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Sample records for comprehensive genetic dissection

  1. Bayesian dissection for genetic architecture of traits associated with ...

    African Journals Online (AJOL)

    PRECIOUS

    2009-12-15

    Dec 15, 2009 ... model selection technique was used to dissect genetic architecture for traits of interest. A total of 28 main-effect ... nutrition elements for rice growth in natural ecosystems. In general ... All materials were sown on 28. April and ...

  2. Genetic dissection of bioenerrgy traits in sorghum

    Energy Technology Data Exchange (ETDEWEB)

    Vermerris, Wilfred; Kresovich, Stephen; Murray, Seth; Pedersen, Jeffery; Rooney, William; Sattler, Scott.

    2012-06-15

    to identify sorghum mutants with altered biomass conversion properties using analysis of leaf segments by near infrared reflectance spectroscopy (NIRS). Approximately 10% of 200 M3 families contained spectral outliers suggestive of cell wall changes, and half of those showed variation in biomass conversion efficiency (Vermerris and Saballos, 2012). Objective 5 The experiments from this objective were completed and the data were published by Saballos et al. (2012) in The Plant Journal. The main findings were: 1) The Bmr2 gene encodes the main 4-coumarate CoA ligase in sorghum; the genetic proof consisted of showing how two independent mutations in this gene both resulted in the same phenotype, and by showing that these mutations were allelic. Reduced Bmr2 activity leads to reduced lignin content and brown vascular tissue. 2) Allele-specific molecular markers were developed so that the inheritance of these recessive alleles can be tracked in sorghum breeding programs aimed at improving biomass conversion. 3) Together with four other bona fide 4CL genes, the Bmr2 gene is a member of a multigene family in sorghum. Based on phylogentic analysis, one of those genes is involved in flavonoid metabolism, the others in monolignol biosynthesis. Enzymatic activities for the enzymes encoded by Bmr2 and itsparalogs were determined. 4) Both bmr2 mutations are missense mutations that result in the substitution of apolar amino acids with polar amino acids. In both cases, these substitutions are in hydrophobic domains, which destabilize the protein, leading to degradation. This is apparent from western blots and activity assays with heterologously expressed enzymes. 5) The plant tries to compensate for the reduced 4CL activity by increasing the expression of Bmr2 and its paralogs. As a result of the higher expression levels of the paralogs, there is enough 4CL activity to minimize negative impacts on growth and development. List of all publications to date in which the funding of this

  3. A Genetic Toolkit for Dissecting Dopamine Circuit Function in Drosophila

    Directory of Open Access Journals (Sweden)

    Tingting Xie

    2018-04-01

    Full Text Available Summary: The neuromodulator dopamine (DA plays a key role in motor control, motivated behaviors, and higher-order cognitive processes. Dissecting how these DA neural networks tune the activity of local neural circuits to regulate behavior requires tools for manipulating small groups of DA neurons. To address this need, we assembled a genetic toolkit that allows for an exquisite level of control over the DA neural network in Drosophila. To further refine targeting of specific DA neurons, we also created reagents that allow for the conversion of any existing GAL4 line into Split GAL4 or GAL80 lines. We demonstrated how this toolkit can be used with recently developed computational methods to rapidly generate additional reagents for manipulating small subsets or individual DA neurons. Finally, we used the toolkit to reveal a dynamic interaction between a small subset of DA neurons and rearing conditions in a social space behavioral assay. : The rapid analysis of how dopaminergic circuits regulate behavior is limited by the genetic tools available to target and manipulate small numbers of these neurons. Xie et al. present genetic tools in Drosophila that allow rational targeting of sparse dopaminergic neuronal subsets and selective knockdown of dopamine signaling. Keywords: dopamine, genetics, behavior, neural circuits, neuromodulation, Drosophila

  4. A genetic dissection of the photophobic response of Paramecium tetraurelia.

    Science.gov (United States)

    Hinrichsen, Robert; Peters, Christian

    2013-05-01

    Paramecium tetraurelia displayed two behavioral responses upon the initiation of a light stimulus at 7 x 10(4) lux. The cells exhibited a photophobic response in the form of behavioral avoiding reactions, followed by an increase in forward swimming velocity that was significantly higher than prior to the light stimulus activation. It was determined that an intensity of approximately 6.5 x 10(3) lux was required to initiate a moderate avoidance behavioral response. Following the avoiding response, a gradual increase in speed occurred as the intensity increased, indicating that increased swimming speeds are dependent on the light intensity. Two mutants, pawnA and Dancer, were utilized since they affect known Ca(2+)-currents of the cell. The use of pawnA cells, which lack voltage-dependent Ca(2+) channel activity, showed that the two responses to light could be genetically separated, in that the cells showed no avoiding reactions, but did increase their swimming speed. The Dancer cells, which display exaggerated Ca(2+) channel activity, exhibited similar initial avoiding responses as the wild type cells, however did not increase their swimming speed as the intensity of the light was increased. This phenotype as replicated in wildtype cells that had been placed in 25 μM 8-Br-cGMP. These data demonstrate that the photophobic light response of Paramecium tetraurelia can be genetically dissected as a means of elucidating the molecular mechanisms of the light response. Copyright © 2013 Elsevier GmbH. All rights reserved.

  5. Genetic dissection of histone deacetylase requirement in tumor cells

    Science.gov (United States)

    Haberland, Michael; Johnson, Aaron; Mokalled, Mayssa H.; Montgomery, Rusty L.; Olson, Eric N.

    2009-01-01

    Histone deacetylase inhibitors (HDACi) represent a new group of drugs currently being tested in a wide variety of clinical applications. They are especially effective in preclinical models of cancer where they show antiproliferative action in many different types of cancer cells. Recently, the first HDACi was approved for the treatment of cutaneous T cell lymphomas. Most HDACi currently in clinical development act by unspecifically interfering with the enzymatic activity of all class I HDACs (HDAC1, 2, 3, and 8), and it is widely believed that the development of isoform-specific HDACi could lead to better therapeutic efficacy. The contribution of the individual class I HDACs to different disease states, however, has so far not been fully elucidated. Here, we use a genetic approach to dissect the involvement of the different class I HDACs in tumor cells. We show that deletion of a single HDAC is not sufficient to induce cell death, but that HDAC1 and 2 play redundant and essential roles in tumor cell survival. Their deletion leads to nuclear bridging, nuclear fragmentation, and mitotic catastrophe, mirroring the effects of HDACi on cancer cells. These findings suggest that pharmacological inhibition of HDAC1 and 2 may be sufficient for anticancer activity, providing an experimental framework for the development of isoform-specific HDAC inhibitors. PMID:19416910

  6. Clinical and genetic aspects of Marfan syndrome and familial thoracic aortic aneurysms and dissections

    NARCIS (Netherlands)

    Hilhorst-Hofstee, Yvonne

    2013-01-01

    This thesis concerns the clinical and genetic aspects of familial thoracic aortic aneurysms and dissections, in particular in Marfan syndrome. It includes the Dutch multidisciplinary guidelines for diagnosis and management of Marfan syndrome. These guidelines contain practical directions for

  7. Dissecting Dissection.

    Science.gov (United States)

    AV Magazine, 1996

    1996-01-01

    This journal features articles covering various aspects of dissection. "Biology--The Study of Life" (George Russell) offers students experiments that do not require using invasive procedures. "Animal Cruelty--Behind the Scenes" (Zoe Weil) describes sources of laboratory animals. "Doing without Dissection" (Juliana…

  8. Genetic Dissection of Behavioral Phenotypes. Lost & Found in Translation

    NARCIS (Netherlands)

    Bruining, H.

    2011-01-01

    This thesis shows that the exploration of human genetic disorders and animal genetic models can bring understanding of the causes and mechanisms of common psychiatric disorders. The first part of the thesis contains studies on genetic behavioral phenotypes in boys with Klinefelter syndrome, a human

  9. Genetic dissection of behavioral flexibility: reversal learning in mice.

    Science.gov (United States)

    Laughlin, Rick E; Grant, Tara L; Williams, Robert W; Jentsch, J David

    2011-06-01

    Behavioral inflexibility is a feature of schizophrenia, attention-deficit/hyperactivity disorder, and behavior addictions that likely results from heritable deficits in the inhibitory control over behavior. Here, we investigate the genetic basis of individual differences in flexibility, measured using an operant reversal learning task. We quantified discrimination acquisition and subsequent reversal learning in a cohort of 51 BXD strains of mice (2-5 mice/strain, n = 176) for which we have matched data on sequence, gene expression in key central nervous system regions, and neuroreceptor levels. Strain variation in trials to criterion on acquisition and reversal was high, with moderate heritability (∼.3). Acquisition and reversal learning phenotypes did not covary at the strain level, suggesting that these traits are effectively under independent genetic control. Reversal performance did covary with dopamine D2 receptor levels in the ventral midbrain, consistent with a similar observed relationship between impulsivity and D2 receptors in humans. Reversal, but not acquisition, is linked to a locus on mouse chromosome 10 with a peak likelihood ratio statistic at 86.2 megabase (p work demonstrates the clear trait independence between, and genetic control of, discrimination acquisition and reversal and illustrates how globally coherent data sets for a single panel of highly related strains can be interrogated and integrated to uncover genetic sources and molecular and neuropharmacological candidates of complex behavioral traits relevant to human psychopathology. Copyright © 2011 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  10. Aortic Dissection in a Healthy Male Athlete: A Unique Case with Comprehensive Literature Review

    Directory of Open Access Journals (Sweden)

    Balraj Singh

    2016-01-01

    Full Text Available A young otherwise healthy 27-year-old male who has been using anabolic steroids for a long time developed Type I aortic dissection associated with heavy weightlifting. The patient did not have a recent history of trauma to the chest, no history of hypertension, and no illicit drug use. He presented with severe chest pain radiating to back and syncopal event with exertion. Initial vitals were significant for blood pressure of 80/50 mmHg, pulse of 80 beats per minute, respirations of 24 per minute, and oxygen saturation of 92% on room air. Physical exam was significant for elevated jugular venous pressure, muffled heart sounds, and cold extremities with diminished pulses in upper and absent pulses in lower extremities. Bedside echocardiogram showed aortic root dilatation and cardiac tamponade. STAT computed tomography (CT scan of chest revealed dissection of ascending aorta. Cardiothoracic surgery was consulted and patient underwent successful repair of ascending aorta. Hemodynamic stress of weightlifting can predispose to aortic dissection. Aortic dissection is a rare but often catastrophic condition if not diagnosed and managed acutely. Although rare, aortic dissection needs to be in the differential when a young weightlifter presents with chest pain as a delay in diagnosis may be fatal.

  11. Genetic dissection reveals two separate retinal substrates for polarization vision in Drosophila.

    Science.gov (United States)

    Wernet, Mathias F; Velez, Mariel M; Clark, Damon A; Baumann-Klausener, Franziska; Brown, Julian R; Klovstad, Martha; Labhart, Thomas; Clandinin, Thomas R

    2012-01-10

    Linearly polarized light originates from atmospheric scattering or surface reflections and is perceived by insects, spiders, cephalopods, crustaceans, and some vertebrates. Thus, the neural basis underlying how this fundamental quality of light is detected is of broad interest. Morphologically unique, polarization-sensitive ommatidia exist in the dorsal periphery of many insect retinas, forming the dorsal rim area (DRA). However, much less is known about the retinal substrates of behavioral responses to polarized reflections. Drosophila exhibits polarotactic behavior, spontaneously aligning with the e-vector of linearly polarized light, when stimuli are presented either dorsally or ventrally. By combining behavioral experiments with genetic dissection and ultrastructural analyses, we show that distinct photoreceptors mediate the two behaviors: inner photoreceptors R7+R8 of DRA ommatidia are necessary and sufficient for dorsal polarotaxis, whereas ventral responses are mediated by combinations of outer and inner photoreceptors, both of which manifest previously unknown features that render them polarization sensitive. Drosophila uses separate retinal pathways for the detection of linearly polarized light emanating from the sky or from shiny surfaces. This work establishes a behavioral paradigm that will enable genetic dissection of the circuits underlying polarization vision. Copyright © 2012 Elsevier Ltd. All rights reserved.

  12. Do Knowledge Arrangements Affect Student Reading Comprehension of Genetics?

    Science.gov (United States)

    Wu, Jen-Yi; Tung, Yu-Neng; Hwang, Bi-Chi; Lin, Chen-Yung; Che-Di, Lee; Chang, Yung-Ta

    2014-01-01

    Various sequences for teaching genetics have been proposed. Three seventh-grade biology textbooks in Taiwan share similar key knowledge assemblages but have different knowledge arrangements. To investigate the influence of knowledge arrangements on student understanding of genetics, we compared students' reading comprehension of the three texts…

  13. Genetic dissection of mammalian ERAD through comparative haploid and CRISPR forward genetic screens

    DEFF Research Database (Denmark)

    Timms, Richard T.; Menzies, Sam A.; Tchasovnikarova, Iva A.

    2016-01-01

    The application of forward genetic screens to cultured human cells represents a powerful method to study gene function. The repurposing of the bacterial CRISPR/Cas9 system provides an effective method to disrupt gene function in mammalian cells, and has been applied to genome-wide screens. Here, we...... compare the efficacy of genome-wide CRISPR/Cas9-mediated forward genetic screens versus gene-trap mutagenesis screens in haploid human cells, which represent the existing ‘gold standard’ method. This head-to-head comparison aimed to identify genes required for the endoplasmic reticulum....../3-associated disulphide reductase. Genome-wide CRISPR/Cas9-mediated screens together with haploid genetic screens provide a powerful addition to the forward genetic toolbox....

  14. Aortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and Dissections

    Directory of Open Access Journals (Sweden)

    Marcelo Cury

    2013-01-01

    Full Text Available There are many genetic syndromes associated with the aortic aneurysmal disease which include Marfan syndrome (MFS, Ehlers-Danlos syndrome (EDS, Loeys-Dietz syndrome (LDS, familial thoracic aortic aneurysms and dissections (TAAD, bicuspid aortic valve disease (BAV, and autosomal dominant polycystic kidney disease (ADPKD. In the absence of familial history and other clinical findings, the proportion of thoracic and abdominal aortic aneurysms and dissections resulting from a genetic predisposition is still unknown. In this study, we propose the review of the current genetic knowledge in the aortic disease, observing, in the results that the causative genes and molecular pathways involved in the pathophysiology of aortic aneurysm disease remain undiscovered and continue to be an area of intensive research.

  15. A new cell culture model to genetically dissect the complete human papillomavirus life cycle.

    Science.gov (United States)

    Bienkowska-Haba, Malgorzata; Luszczek, Wioleta; Myers, Julia E; Keiffer, Timothy R; DiGiuseppe, Stephen; Polk, Paula; Bodily, Jason M; Scott, Rona S; Sapp, Martin

    2018-03-01

    Herein, we describe a novel infection model that achieves highly efficient infection of primary keratinocytes with human papillomavirus type 16 (HPV16). This cell culture model does not depend on immortalization and is amenable to extensive genetic analyses. In monolayer cell culture, the early but not late promoter was active and yielded a spliced viral transcript pattern similar to HPV16-immortalized keratinocytes. However, relative levels of the E8^E2 transcript increased over time post infection suggesting the expression of this viral repressor is regulated independently of other early proteins and that it may be important for the shift from the establishment to the maintenance phase of the viral life cycle. Both the early and the late promoter were strongly activated when infected cells were subjected to differentiation by growth in methylcellulose. When grown as organotypic raft cultures, HPV16-infected cells expressed late E1^E4 and L1 proteins and replication foci were detected, suggesting that they supported the completion of the viral life cycle. As a proof of principle that the infection system may be used for genetic dissection of viral factors, we analyzed E1, E6 and E7 translation termination linker mutant virus for establishment of infection and genome maintenance. E1 but not E6 and E7 was essential to establish infection. Furthermore, E6 but not E7 was required for episomal genome maintenance. Primary keratinocytes infected with wild type HPV16 immortalized, whereas keratinocytes infected with E6 and E7 knockout virus began to senesce 25 to 35 days post infection. The novel infection model provides a powerful genetic tool to study the role of viral proteins throughout the viral life cycle but especially for immediate early events and enables us to compare low- and high-risk HPV types in the context of infection.

  16. A new cell culture model to genetically dissect the complete human papillomavirus life cycle.

    Directory of Open Access Journals (Sweden)

    Malgorzata Bienkowska-Haba

    2018-03-01

    Full Text Available Herein, we describe a novel infection model that achieves highly efficient infection of primary keratinocytes with human papillomavirus type 16 (HPV16. This cell culture model does not depend on immortalization and is amenable to extensive genetic analyses. In monolayer cell culture, the early but not late promoter was active and yielded a spliced viral transcript pattern similar to HPV16-immortalized keratinocytes. However, relative levels of the E8^E2 transcript increased over time post infection suggesting the expression of this viral repressor is regulated independently of other early proteins and that it may be important for the shift from the establishment to the maintenance phase of the viral life cycle. Both the early and the late promoter were strongly activated when infected cells were subjected to differentiation by growth in methylcellulose. When grown as organotypic raft cultures, HPV16-infected cells expressed late E1^E4 and L1 proteins and replication foci were detected, suggesting that they supported the completion of the viral life cycle. As a proof of principle that the infection system may be used for genetic dissection of viral factors, we analyzed E1, E6 and E7 translation termination linker mutant virus for establishment of infection and genome maintenance. E1 but not E6 and E7 was essential to establish infection. Furthermore, E6 but not E7 was required for episomal genome maintenance. Primary keratinocytes infected with wild type HPV16 immortalized, whereas keratinocytes infected with E6 and E7 knockout virus began to senesce 25 to 35 days post infection. The novel infection model provides a powerful genetic tool to study the role of viral proteins throughout the viral life cycle but especially for immediate early events and enables us to compare low- and high-risk HPV types in the context of infection.

  17. Comprehensive QTL mapping survey dissects the complex fruit texture physiology in apple (Malus x domestica Borkh.).

    Science.gov (United States)

    Longhi, Sara; Moretto, Marco; Viola, Roberto; Velasco, Riccardo; Costa, Fabrizio

    2012-02-01

    Fruit ripening is a complex physiological process in plants whereby cell wall programmed changes occur mainly to promote seed dispersal. Cell wall modification also directly regulates the textural properties, a fundamental aspect of fruit quality. In this study, two full-sib populations of apple, with 'Fuji' as the common maternal parent, crossed with 'Delearly' and 'Pink Lady', were used to understand the control of fruit texture by QTL mapping and in silico gene mining. Texture was dissected with a novel high resolution phenomics strategy, simultaneously profiling both mechanical and acoustic fruit texture components. In 'Fuji × Delearly' nine linkage groups were associated with QTLs accounting from 15.6% to 49% of the total variance, and a highly significant QTL cluster for both textural components was mapped on chromosome 10 and co-located with Md-PG1, a polygalacturonase gene that, in apple, is known to be involved in cell wall metabolism processes. In addition, other candidate genes related to Md-NOR and Md-RIN transcription factors, Md-Pel (pectate lyase), and Md-ACS1 were mapped within statistical intervals. In 'Fuji × Pink Lady', a smaller set of linkage groups associated with the QTLs identified for fruit texture (15.9-34.6% variance) was observed. The analysis of the phenotypic variance over a two-dimensional PCA plot highlighted a transgressive segregation for this progeny, revealing two QTL sets distinctively related to both mechanical and acoustic texture components. The mining of the apple genome allowed the discovery of the gene inventory underlying each QTL, and functional profile assessment unravelled specific gene expression patterns of these candidate genes.

  18. Characterization and genetic dissection of resistance to spotted alfalfa aphid (Therioaphis trifolii) in Medicago truncatula

    KAUST Repository

    Kamphuis, L. G.; Lichtenzveig, J.; Peng, K.; Guo, S.-M.; Klingler, John; Siddique, K. H. M.; Gao, L.-L.; Singh, K. B.

    2013-01-01

    Aphids cause significant yield losses in agricultural crops worldwide. Medicago truncatula, a model legume, cultivated pasture species in Australia and close relative of alfalfa (Medicago sativa), was used to study the defence response against Therioaphis trifolii f. maculate [spotted alfalfa aphid (SAA)]. Aphid performance and plant damage were compared among three accessions. A20 is highly susceptible, A17 has moderate resistance, and Jester is strongly resistant. Subsequent analyses using A17 and A20, reciprocal F1s and an A17×A20 recombinant inbred line (RIL) population revealed that this moderate resistance is phloem mediated and involves antibiosis and tolerance but not antixenosis. Electrical penetration graph analysis also identified a novel waveform termed extended potential drop, which occurred following SAA infestation of M. truncatula. Genetic dissection using the RIL population revealed three quantitative trait loci on chromosomes 3, 6, and 7 involved in distinct modes of aphid defence including antibiosis and tolerance. An antibiosis locus resides on linkage group 3 (LG3) and is derived from A17, whereas a plant tolerance and antibiosis locus resides on LG6 and is derived from A20, which exhibits strong temporary tolerance. The loci identified reside in regions harbouring classical resistance genes, and introgression of these loci in current medic cultivars may help provide durable resistance to SAA, while elucidation of their molecular mechanisms may provide valuable insight into other aphid–plant interactions.

  19. Characterization and genetic dissection of resistance to spotted alfalfa aphid (Therioaphis trifolii) in Medicago truncatula

    KAUST Repository

    Kamphuis, L. G.

    2013-09-21

    Aphids cause significant yield losses in agricultural crops worldwide. Medicago truncatula, a model legume, cultivated pasture species in Australia and close relative of alfalfa (Medicago sativa), was used to study the defence response against Therioaphis trifolii f. maculate [spotted alfalfa aphid (SAA)]. Aphid performance and plant damage were compared among three accessions. A20 is highly susceptible, A17 has moderate resistance, and Jester is strongly resistant. Subsequent analyses using A17 and A20, reciprocal F1s and an A17×A20 recombinant inbred line (RIL) population revealed that this moderate resistance is phloem mediated and involves antibiosis and tolerance but not antixenosis. Electrical penetration graph analysis also identified a novel waveform termed extended potential drop, which occurred following SAA infestation of M. truncatula. Genetic dissection using the RIL population revealed three quantitative trait loci on chromosomes 3, 6, and 7 involved in distinct modes of aphid defence including antibiosis and tolerance. An antibiosis locus resides on linkage group 3 (LG3) and is derived from A17, whereas a plant tolerance and antibiosis locus resides on LG6 and is derived from A20, which exhibits strong temporary tolerance. The loci identified reside in regions harbouring classical resistance genes, and introgression of these loci in current medic cultivars may help provide durable resistance to SAA, while elucidation of their molecular mechanisms may provide valuable insight into other aphid–plant interactions.

  20. Overlapping genetic and child-specific nonshared environmental influences on listening comprehension, reading motivation, and reading comprehension.

    Science.gov (United States)

    Schenker, Victoria J; Petrill, Stephen A

    2015-01-01

    This study investigated the genetic and environmental influences on observed associations between listening comprehension, reading motivation, and reading comprehension. Univariate and multivariate quantitative genetic models were conducted in a sample of 284 pairs of twins at a mean age of 9.81 years. Genetic and nonshared environmental factors accounted for statistically significant variance in listening and reading comprehension, and nonshared environmental factors accounted for variance in reading motivation. Furthermore, listening comprehension demonstrated unique genetic and nonshared environmental influences but also had overlapping genetic influences with reading comprehension. Reading motivation and reading comprehension each had unique and overlapping nonshared environmental contributions. Therefore, listening comprehension appears to be related to reading primarily due to genetic factors whereas motivation appears to affect reading via child-specific, nonshared environmental effects. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. Overlapping Genetic and Child-Specific Nonshared Environmental Influences on Listening Comprehension, Reading Motivation, and Reading Comprehension

    Science.gov (United States)

    Schenker, Victoria J.; Petrill, Stephen A.

    2015-01-01

    This study investigated the genetic and environmental influences on observed associations between listening comprehension, reading motivation, and reading comprehension. Univariate and multivariate quantitative genetic models were conducted in a sample of 284 pairs of twins at a mean age of 9.81 years. Genetic and nonshared environmental factors accounted for statistically significant variance in listening and reading comprehension, and nonshared environmental factors accounted for variance in reading motivation. Furthermore, listening comprehension demonstrated unique genetic and nonshared environmental influences but also had overlapping genetic influences with reading comprehension. Reading motivation and reading comprehension each had unique and overlapping nonshared environmental contributions. Therefore, listening comprehension appears to be related to reading primarily due to genetic factors whereas motivation appears to affect reading via child-specific, nonshared environmental effects. PMID:26321677

  2. Genetic dissection of memory for associative and non-associative learning in Caenorhabditis elegans.

    Science.gov (United States)

    Lau, H L; Timbers, T A; Mahmoud, R; Rankin, C H

    2013-03-01

    The distinction between non-associative and associative forms of learning has historically been based on the behavioral training paradigm. Through discovering the molecular mechanisms that mediate learning, we can develop a deeper understanding of the relationships between different forms of learning. Here, we genetically dissect short- and long-term memory for a non-associative form of learning, habituation and an associative form of learning, context conditioning for habituation, in the nematode Caenorhabditis elegans. In short-term chemosensory context conditioning for habituation, worms trained and tested in the presence of either a taste (sodium acetate) or smell (diacetyl) context cue show greater retention of habituation to tap stimuli when compared with animals trained and tested without a salient cue. Long-term memory for olfactory context conditioning was observed 24 h after a training procedure that does not normally induce 24 h memory. Like long-term habituation, this long-term memory was dependent on the transcription factor cyclic AMP-response element-binding protein. Worms with mutations in glr-1 [a non-N-methyl-d-aspartate (NMDA)-type glutamate receptor subunit] showed short-term but not long-term habituation or short- or long-term context conditioning. Worms with mutations in nmr-1 (an NMDA-receptor subunit) showed normal short- and long-term memory for habituation but did not show either short- or long-term context conditioning. Rescue of nmr-1 in the RIM interneurons rescued short- and long-term olfactory context conditioning leading to the hypothesis that these interneurons function to integrate information from chemosensory and mechanosensory systems for associative learning. © 2012 The Authors. Genes, Brain and Behavior © 2012 Blackwell Publishing Ltd and International Behavioural and Neural Genetics Society.

  3. A novel analytical framework for dissecting the genetic architecture of behavioral symptoms in neuropsychiatric disorders.

    Directory of Open Access Journals (Sweden)

    Anthony J Deo

    2010-03-01

    Full Text Available For diagnosis of neuropsychiatric disorders, a categorical classification system is often utilized as a simple way for conceptualizing an often complex clinical picture. This approach provides an unsatisfactory model of mental illness, since in practice patients do not conform to these prototypical diagnostic categories. Family studies show notable familial co-aggregation between schizophrenia and bipolar illness and between schizoaffective disorders and both bipolar disorder and schizophrenia, revealing that mental illness does not conform to such categorical models and is likely to follow a continuum encompassing a spectrum of behavioral symptoms.We introduce an analytic framework to dissect the phenotypic heterogeneity present in complex psychiatric disorders based on the conceptual paradigm of a continuum of psychosis. The approach identifies subgroups of behavioral symptoms that are likely to be phenotypically and genetically homogenous. We have evaluated this approach through analysis of simulated data with simulated behavioral traits and predisposing genetic factors. We also apply this approach to a psychiatric dataset of a genome scan for schizophrenia for which extensive behavioral information was collected for each individual patient and their families. With this approach, we identified significant evidence for linkage among depressed individuals with two distinct symptom profiles, that is individuals with sleep disturbance symptoms with linkage on chromosome 2q13 and also a mutually exclusive group of individuals with symptoms of concentration problems with linkage on chromosome 2q35. In addition we identified a subset of individuals with schizophrenia defined by language disturbances with linkage to chromosome 2p25.1 and a group of patients with a phenotype intermediate between those of schizophrenia and schizoaffective disorder with linkage to chromosome 2p21.The findings presented are novel and demonstrate the efficacy of this

  4. Transitioning from Targeted to Comprehensive Mass Spectrometry Using Genetic Algorithms.

    Science.gov (United States)

    Jaffe, Jacob D; Feeney, Caitlin M; Patel, Jinal; Lu, Xiaodong; Mani, D R

    2016-11-01

    Targeted proteomic assays are becoming increasingly popular because of their robust quantitative applications enabled by internal standardization, and they can be routinely executed on high performance mass spectrometry instrumentation. However, these assays are typically limited to 100s of analytes per experiment. Considerable time and effort are often expended in obtaining and preparing samples prior to targeted analyses. It would be highly desirable to detect and quantify 1000s of analytes in such samples using comprehensive mass spectrometry techniques (e.g., SWATH and DIA) while retaining a high degree of quantitative rigor for analytes with matched internal standards. Experimentally, it is facile to port a targeted assay to a comprehensive data acquisition technique. However, data analysis challenges arise from this strategy concerning agreement of results from the targeted and comprehensive approaches. Here, we present the use of genetic algorithms to overcome these challenges in order to configure hybrid targeted/comprehensive MS assays. The genetic algorithms are used to select precursor-to-fragment transitions that maximize the agreement in quantification between the targeted and the comprehensive methods. We find that the algorithm we used provided across-the-board improvement in the quantitative agreement between the targeted assay data and the hybrid comprehensive/targeted assay that we developed, as measured by parameters of linear models fitted to the results. We also found that the algorithm could perform at least as well as an independently-trained mass spectrometrist in accomplishing this task. We hope that this approach will be a useful tool in the development of quantitative approaches for comprehensive proteomics techniques. Graphical Abstract ᅟ.

  5. Genetic dissection of the Drosophila melanogaster female head transcriptome reveals widespread allelic heterogeneity.

    Science.gov (United States)

    King, Elizabeth G; Sanderson, Brian J; McNeil, Casey L; Long, Anthony D; Macdonald, Stuart J

    2014-05-01

    Modern genetic mapping is plagued by the "missing heritability" problem, which refers to the discordance between the estimated heritabilities of quantitative traits and the variance accounted for by mapped causative variants. One major potential explanation for the missing heritability is allelic heterogeneity, in which there are multiple causative variants at each causative gene with only a fraction having been identified. The majority of genome-wide association studies (GWAS) implicitly assume that a single SNP can explain all the variance for a causative locus. However, if allelic heterogeneity is prevalent, a substantial amount of genetic variance will remain unexplained. In this paper, we take a haplotype-based mapping approach and quantify the number of alleles segregating at each locus using a large set of 7922 eQTL contributing to regulatory variation in the Drosophila melanogaster female head. Not only does this study provide a comprehensive eQTL map for a major community genetic resource, the Drosophila Synthetic Population Resource, but it also provides a direct test of the allelic heterogeneity hypothesis. We find that 95% of cis-eQTLs and 78% of trans-eQTLs are due to multiple alleles, demonstrating that allelic heterogeneity is widespread in Drosophila eQTL. Allelic heterogeneity likely contributes significantly to the missing heritability problem common in GWAS studies.

  6. Genetic dissection of the Drosophila melanogaster female head transcriptome reveals widespread allelic heterogeneity.

    Directory of Open Access Journals (Sweden)

    Elizabeth G King

    2014-05-01

    Full Text Available Modern genetic mapping is plagued by the "missing heritability" problem, which refers to the discordance between the estimated heritabilities of quantitative traits and the variance accounted for by mapped causative variants. One major potential explanation for the missing heritability is allelic heterogeneity, in which there are multiple causative variants at each causative gene with only a fraction having been identified. The majority of genome-wide association studies (GWAS implicitly assume that a single SNP can explain all the variance for a causative locus. However, if allelic heterogeneity is prevalent, a substantial amount of genetic variance will remain unexplained. In this paper, we take a haplotype-based mapping approach and quantify the number of alleles segregating at each locus using a large set of 7922 eQTL contributing to regulatory variation in the Drosophila melanogaster female head. Not only does this study provide a comprehensive eQTL map for a major community genetic resource, the Drosophila Synthetic Population Resource, but it also provides a direct test of the allelic heterogeneity hypothesis. We find that 95% of cis-eQTLs and 78% of trans-eQTLs are due to multiple alleles, demonstrating that allelic heterogeneity is widespread in Drosophila eQTL. Allelic heterogeneity likely contributes significantly to the missing heritability problem common in GWAS studies.

  7. The functional and anatomical dissection of somatosensory subpopulations using mouse genetics

    Directory of Open Access Journals (Sweden)

    Claire E Le Pichon

    2014-04-01

    Full Text Available The word somatosensation comes from joining the Greek word for body (soma with a word for perception (sensation. Somatosensory neurons comprise the largest sensory system in mammals and have nerve endings coursing throughout the skin, viscera, muscle, and bone. Their cell bodies reside in a chain of ganglia adjacent to the dorsal spinal cord (the dorsal root ganglia and at the base of the skull (the trigeminal ganglia. While the neuronal cell bodies are intermingled within the ganglia, the somatosensory system is in reality composed of numerous sub-systems, each specialized to detect distinct stimuli, such as temperature and touch. Historically, somatosensory neurons have been classified using a diverse host of anatomical and physiological parameters, such as the size of the cell body, degree of myelination, histological labeling with markers, specialization of the nerve endings, projection patterns in the spinal cord and brainstem, receptive tuning, and conduction velocity of their action potentials. While useful, the picture that emerged was one of heterogeneity, with many markers at least partially overlapping. More recently, by capitalizing on advances in molecular techniques, researchers have identified specific ion channels and sensory receptors expressed in subsets of sensory neurons. These studies have proved invaluable as they allow genetic access to small subsets of neurons for further molecular dissection. Data being generated from transgenic mice favor the model whereby an array of dedicated neurons is responsible for selectively encoding different modalities. Here we review the current knowledge of the different sensory neuron subtypes in the mouse, the markers used to study them, and the neurogenetic strategies used to define their anatomical projections and functional roles.

  8. From genetics to response to injury: vascular smooth muscle cells in aneurysms and dissections of the ascending aorta.

    Science.gov (United States)

    Michel, Jean-Baptiste; Jondeau, Guillaume; Milewicz, Dianna M

    2018-03-15

    Vascular smooth muscle cells (vSMCs) play a crucial role in both the pathogenesis of Aneurysms and Dissections of the ascending thoracic aorta (TAAD) in humans and in the associated adaptive compensatory responses, since thrombosis and inflammatory processes are absent in the majority of cases. Aneurysms and dissections share numerous characteristics, including aetiologies and histopathological alterations: vSMC disappearance, medial areas of mucoid degeneration, and extracellular matrix (ECM) breakdown. Three aetiologies predominate in TAAD in humans: (i) genetic causes in heritable familial forms, (ii) an association with bicuspid aortic valves, and (iii) a sporadic degenerative form linked to the aortic aging process. Genetic forms include mutations in vSMC genes encoding for molecules of the ECM or the TGF-β pathways, or participating in vSMC tone. On the other hand, aneurysms and dissections, whatever their aetiologies, are characterized by an increase in wall permeability leading to transmural advection of plasma proteins which could interact with vSMCs and ECM components. In this context, blood-borne plasminogen appears to play an important role, because its outward convection through the wall is increased in TAAD, and it could be converted to active plasmin at the vSMC membrane. Active plasmin can induce vSMC disappearance, proteolysis of adhesive proteins, activation of MMPs and release of TGF-β from its ECM storage sites. Conversely, vSMCs could respond to aneurysmal biomechanical and proteolytic injury by an epigenetic phenotypic switch, including constitutional overexpression and nuclear translocation of Smad2 and an increase in antiprotease and ECM protein synthesis. In contrast, such an epigenetic phenomenon is not observed in dissections. In this context, dysfunction of proteins involved in vSMC tone are interesting to study, particularly in interaction with plasma protein transport through the wall and TGF-β activation, to establish the

  9. Genetic dissection of Sharka disease tolerance in peach (P. persica L. Batsch).

    Science.gov (United States)

    Cirilli, Marco; Rossini, Laura; Geuna, Filippo; Palmisano, Francesco; Minafra, Angelantonio; Castrignanò, Tiziana; Gattolin, Stefano; Ciacciulli, Angelo; Babini, Anna Rosa; Liverani, Alessandro; Bassi, Daniele

    2017-11-03

    Plum pox virus (PPV), agent of Sharka disease, is the most important quarantine pathogen of peach (P. persica L. Batsch). Extensive evaluation of peach germplasm has highlighted the lack of resistant sources, while suggesting the presence of a quantitative disease resistance, expressed as reduction in the intensity of symptoms. Unravelling the genetic architecture of peach response to PPV infection is essential for pyramiding resistant genes and for developing more tolerant varieties. For this purpose, a genome-wide association (GWA) approach was applied in a panel of accessions phenotyped for virus susceptibility and genotyped with the IPSC peach 9 K SNP Array, and coupled with an high-coverage resequencing of the tolerant accession 'Kamarat'. Genome-wide association identified three highly significant associated loci on chromosome 2 and 3, accounting for most of the reduction in PPV-M susceptibility within the analysed peach population. The exploration of associated intervals through whole-genome comparison of the tolerant accession 'Kamarat' and other susceptible accessions, including the PPV-resistant wild-related species P. davidiana, allow the identification of allelic variants in promising candidate genes, including an RTM2-like gene already characterized in A. thaliana. The present study is the first effort to identify genetic factors involved in Sharka disease in peach germplasm through a GWA approach. We provide evidence of the presence of quantitative resistant loci in a collection of peach accessions, identifying major loci and highly informative SNPs that could be useful for marker assisted selection. These results could serve as reference bases for future research aimed at the comprehension of genetic mechanism regulating the complex peach-PPV interaction.

  10. Genetic background in nonalcoholic fatty liver disease: A comprehensive review

    Science.gov (United States)

    Macaluso, Fabio Salvatore; Maida, Marcello; Petta, Salvatore

    2015-01-01

    In the Western world, nonalcoholic fatty liver disease (NAFLD) is considered as one of the most significant liver diseases of the twenty-first century. Its development is certainly driven by environmental factors, but it is also regulated by genetic background. The role of heritability has been widely demonstrated by several epidemiological, familial, and twin studies and case series, and likely reflects the wide inter-individual and inter-ethnic genetic variability in systemic metabolism and wound healing response processes. Consistent with this idea, genome-wide association studies have clearly identified Patatin-like phosholipase domain-containing 3 gene variant I148M as a major player in the development and progression of NAFLD. More recently, the transmembrane 6 superfamily member 2 E167K variant emerged as a relevant contributor in both NAFLD pathogenesis and cardiovascular outcomes. Furthermore, numerous case-control studies have been performed to elucidate the potential role of candidate genes in the pathogenesis and progression of fatty liver, although findings are sometimes contradictory. Accordingly, we performed a comprehensive literature search and review on the role of genetics in NAFLD. We emphasize the strengths and weaknesses of the available literature and outline the putative role of each genetic variant in influencing susceptibility and/or progression of the disease. PMID:26494964

  11. Genetic variants in FBN-1 and risk for thoracic aortic aneurysm and dissection.

    Science.gov (United States)

    Iakoubova, Olga A; Tong, Carmen H; Rowland, Charles M; Luke, May M; Garcia, Veronica E; Catanese, Joseph J; Moomiaie, Remo M; Sotonyi, Peter; Ascady, Gyorgy; Nikas, Demitrios; Dedelias, Panagiotis; Tranquilli, Maryann; Elefteriades, John A

    2014-01-01

    A recent genome wide association study (GWAS) by LeMaire et al. found that two single nucleotide polymorphisms (SNPs), rs2118181 and rs10519177 in the FBN-1 gene (encoding Fibrillin-1), were associated with thoracic aortic dissection (TAD), non-dissecting thoracic aortic aneurysm (TAA), and thoracic aortic aneurysm or dissection (TAAD); the largest effect was observed for the association of rs2118181 with TAD. We investigated whether rs2118181 and rs10519177 were associated with TAD, TAA, and TAAD in the Yale study. The genotypes of rs2118181 and rs10519177 were determined for participants in the Yale study: 637 TAAD cases (140 TAD, 497 TAA) and 275 controls from the United States, Hungary, and Greece. The association of the genotypes with TAD, TAA and TAAD were assessed using logistic regression models adjusted for sex, age, study center and hypertension. In the Yale study, rs2118181 was associated with TAD: compared with non-carriers, carriers of the risk allele had an unadjusted odds ratio for TAD of 1.80 (95% CI 1.15-2.80) and they had odds ratio for TAD of 1.87 (95% CI 1.09-3.20) after adjusting for sex, age, study center and hypertension. We did not find significant differences in aortic size, a potential confounder for TAD, between rs2118181 risk variant carriers and non-carriers: mean aortic size was 5.56 (95% CI: 5.37-5.73) for risk variant carriers (CC+CT) and was 5.48 (95% CI: 5.36-5.61) for noncarriers (TT) (p = 0.56). rs2118181 was not associated with TAA or TAAD. rs10519177 was not associated with TAD, TAA, or TAAD in the Yale study. Thus, the Yale study provided further support for the association of the FBN-1 rs2118181SNP with TAD.

  12. Dissecting Genetic Network of Fruit Branch Traits in Upland Cotton by Association Mapping Using SSR Markers.

    Directory of Open Access Journals (Sweden)

    Yongjun Mei

    Full Text Available Genetic architecture of branch traits has large influences on the morphological structure, photosynthetic capacity, planting density, and yield of Upland cotton (Gossypium hirsutum L.. This research aims to reveal the genetic effects of six branch traits, including bottom fruit branch node number (BFBNN, bottom fruit branch length (BFBL, middle fruit branch node number (MFBNN, middle fruit branch length (MFBL, upper fruit branch node number (UFBNN, and upper fruit branch length (UFBL. Association mapping was conducted for these traits of 39 lines and their 178 F1 hybrids in three environments. There were 20 highly significant Quantitative Trait SSRs (QTSs detected by mixed linear model approach analyzing a full genetic model with genetic effects of additive, dominance, epistasis and their environment interaction. The phenotypic variation explained by genetic effects ranged from 32.64 ~ 91.61%, suggesting these branch traits largely influenced by genetic factors.

  13. Dissecting genetic architecture of startle response in Drosophila melanogaster using multi-omics information.

    Science.gov (United States)

    Xue, Angli; Wang, Hongcheng; Zhu, Jun

    2017-09-28

    Startle behavior is important for survival, and abnormal startle responses are related to several neurological diseases. Drosophila melanogaster provides a powerful system to investigate the genetic underpinnings of variation in startle behavior. Since mechanically induced, startle responses and environmental conditions can be readily quantified and precisely controlled. The 156 wild-derived fully sequenced lines of the Drosophila Genetic Reference Panel (DGRP) were used to identify SNPs and transcripts associated with variation in startle behavior. The results validated highly significant effects of 33 quantitative trait SNPs (QTSs) and 81 quantitative trait transcripts (QTTs) directly associated with phenotypic variation of startle response. We also detected QTT variation controlled by 20 QTSs (tQTSs) and 73 transcripts (tQTTs). Association mapping based on genomic and transcriptomic data enabled us to construct a complex genetic network that underlies variation in startle behavior. Based on principles of evolutionary conservation, human orthologous genes could be superimposed on this network. This study provided both genetic and biological insights into the variation of startle response behavior of Drosophila melanogaster, and highlighted the importance of genetic network to understand the genetic architecture of complex traits.

  14. Comprehensive Genetic Database of Expressed Sequence Tags for Coccolithophorids

    Science.gov (United States)

    Ranji, Mohammad; Hadaegh, Ahmad R.

    Coccolithophorids are unicellular, marine, golden-brown, single-celled algae (Haptophyta) commonly found in near-surface waters in patchy distributions. They belong to the Phytoplankton family that is known to be responsible for much of the earth reproduction. Phytoplankton, just like plants live based on the energy obtained by Photosynthesis which produces oxygen. Substantial amount of oxygen in the earth's atmosphere is produced by Phytoplankton through Photosynthesis. The single-celled Emiliana Huxleyi is the most commonly known specie of Coccolithophorids and is known for extracting bicarbonate (HCO3) from its environment and producing calcium carbonate to form Coccoliths. Coccolithophorids are one of the world's primary producers, contributing about 15% of the average oceanic phytoplankton biomass to the oceans. They produce elaborate, minute calcite platelets (Coccoliths), covering the cell to form a Coccosphere and supplying up to 60% of the bulk pelagic calcite deposited on the sea floors. In order to understand the genetics of Coccolithophorid and the complexities of their biochemical reactions, we decided to build a database to store a complete profile of these organisms' genomes. Although a variety of such databases currently exist, (http://www.geneservice.co.uk/home/) none have yet been developed to comprehensively address the sequencing efforts underway by the Coccolithophorid research community. This database is called CocooExpress and is available to public (http://bioinfo.csusm.edu) for both data queries and sequence contribution.

  15. Dissecting high-dimensional phenotypes with bayesian sparse factor analysis of genetic covariance matrices.

    Science.gov (United States)

    Runcie, Daniel E; Mukherjee, Sayan

    2013-07-01

    Quantitative genetic studies that model complex, multivariate phenotypes are important for both evolutionary prediction and artificial selection. For example, changes in gene expression can provide insight into developmental and physiological mechanisms that link genotype and phenotype. However, classical analytical techniques are poorly suited to quantitative genetic studies of gene expression where the number of traits assayed per individual can reach many thousand. Here, we derive a Bayesian genetic sparse factor model for estimating the genetic covariance matrix (G-matrix) of high-dimensional traits, such as gene expression, in a mixed-effects model. The key idea of our model is that we need consider only G-matrices that are biologically plausible. An organism's entire phenotype is the result of processes that are modular and have limited complexity. This implies that the G-matrix will be highly structured. In particular, we assume that a limited number of intermediate traits (or factors, e.g., variations in development or physiology) control the variation in the high-dimensional phenotype, and that each of these intermediate traits is sparse - affecting only a few observed traits. The advantages of this approach are twofold. First, sparse factors are interpretable and provide biological insight into mechanisms underlying the genetic architecture. Second, enforcing sparsity helps prevent sampling errors from swamping out the true signal in high-dimensional data. We demonstrate the advantages of our model on simulated data and in an analysis of a published Drosophila melanogaster gene expression data set.

  16. Genome-wide association studies dissect the genetic networks underlying agronomical traits in soybean.

    Science.gov (United States)

    Fang, Chao; Ma, Yanming; Wu, Shiwen; Liu, Zhi; Wang, Zheng; Yang, Rui; Hu, Guanghui; Zhou, Zhengkui; Yu, Hong; Zhang, Min; Pan, Yi; Zhou, Guoan; Ren, Haixiang; Du, Weiguang; Yan, Hongrui; Wang, Yanping; Han, Dezhi; Shen, Yanting; Liu, Shulin; Liu, Tengfei; Zhang, Jixiang; Qin, Hao; Yuan, Jia; Yuan, Xiaohui; Kong, Fanjiang; Liu, Baohui; Li, Jiayang; Zhang, Zhiwu; Wang, Guodong; Zhu, Baoge; Tian, Zhixi

    2017-08-24

    Soybean (Glycine max [L.] Merr.) is one of the most important oil and protein crops. Ever-increasing soybean consumption necessitates the improvement of varieties for more efficient production. However, both correlations among different traits and genetic interactions among genes that affect a single trait pose a challenge to soybean breeding. To understand the genetic networks underlying phenotypic correlations, we collected 809 soybean accessions worldwide and phenotyped them for two years at three locations for 84 agronomic traits. Genome-wide association studies identified 245 significant genetic loci, among which 95 genetically interacted with other loci. We determined that 14 oil synthesis-related genes are responsible for fatty acid accumulation in soybean and function in line with an additive model. Network analyses demonstrated that 51 traits could be linked through the linkage disequilibrium of 115 associated loci and these links reflect phenotypic correlations. We revealed that 23 loci, including the known Dt1, E2, E1, Ln, Dt2, Fan, and Fap loci, as well as 16 undefined associated loci, have pleiotropic effects on different traits. This study provides insights into the genetic correlation among complex traits and will facilitate future soybean functional studies and breeding through molecular design.

  17. Genetic Dissection of Trabecular Bone Structure with Mouse Intersubspecific Consomic Strains

    Directory of Open Access Journals (Sweden)

    Taro Kataoka

    2017-10-01

    Full Text Available Trabecular bone structure has an important influence on bone strength, but little is known about its genetic regulation. To elucidate the genetic factor(s regulating trabecular bone structure, we compared the trabecular bone structures of two genetically remote mouse strains, C57BL/6J and Japanese wild mouse-derived MSM/Ms. Phenotyping by X-ray micro-CT revealed that MSM/Ms has structurally more fragile trabecular bone than C57BL/6J. Toward identification of genetic determinants for the difference in fragility of trabecular bone between the two mouse strains, we employed phenotype screening of consomic mouse strains in which each C57BL/6J chromosome is substituted by its counterpart from MSM/Ms. The results showed that many chromosomes affect trabecular bone structure, and that the consomic strain B6-Chr15MSM, carrying MSM/Ms-derived chromosome 15 (Chr15, has the lowest values for the parameters BV/TV, Tb.N, and Conn.D, and the highest values for the parameters Tb.Sp and SMI. Subsequent phenotyping of subconsomic strains for Chr15 mapped four novel trabecular bone structure-related QTL (Tbsq1-4 on mouse Chr15. These results collectively indicate that genetic regulation of trabecular bone structure is highly complex, and that even in the single Chr15, the combined action of the four Tbsqs controls the fragility of trabecular bone. Given that Tbsq4 is syntenic to human Chr 12q12-13.3, where several bone-related SNPs are assigned, further study of Tbsq4 should facilitate our understanding of the genetic regulation of bone formation in humans.

  18. Genetic dissection of nonhost resistance of wild lettuce, Lactuca saligna, to downy mildew

    NARCIS (Netherlands)

    Zhang, N.

    2008-01-01

    Lettuce downy mildew is the most destructive disease in lettuce (Lactuca spp.) cultivation and is caused by Bremia lactucae. The successful cross between its host L. sativa and the nonhost, L. saligna, and offers a rare chance to study the genetics of the nonhost resistance. From a set of 29

  19. Dissecting the genetics of rhizomatousness: Towards sustainable food, forage, and bioenergy

    Science.gov (United States)

    Rhizomatousness is a key trait influencing both the perenniality and biomass partitioning of plants. Increased understanding of the genetic control of rhizome growth offers potential towards the creation of more sustainable grain, forage, and bioenergy cropping systems. It is also applicable to th...

  20. Genetic Dissection of Anopheles gambiae Gut Epithelial Responses to Serratia marcescens

    Science.gov (United States)

    Stathopoulos, Stavros; Neafsey, Daniel E.; Lawniczak, Mara K. N.; Muskavitch, Marc A. T.; Christophides, George K.

    2014-01-01

    Genetic variation in the mosquito Anopheles gambiae profoundly influences its ability to transmit malaria. Mosquito gut bacteria are shown to influence the outcome of infections with Plasmodium parasites and are also thought to exert a strong drive on genetic variation through natural selection; however, a link between antibacterial effects and genetic variation is yet to emerge. Here, we combined SNP genotyping and expression profiling with phenotypic analyses of candidate genes by RNAi-mediated silencing and 454 pyrosequencing to investigate this intricate biological system. We identified 138 An. gambiae genes to be genetically associated with the outcome of Serratia marcescens infection, including the peptidoglycan recognition receptor PGRPLC that triggers activation of the antibacterial IMD/REL2 pathway and the epidermal growth factor receptor EGFR. Silencing of three genes encoding type III fibronectin domain proteins (FN3Ds) increased the Serratia load and altered the gut microbiota composition in favor of Enterobacteriaceae. These data suggest that natural genetic variation in immune-related genes can shape the bacterial population structure of the mosquito gut with high specificity. Importantly, FN3D2 encodes a homolog of the hypervariable pattern recognition receptor Dscam, suggesting that pathogen-specific recognition may involve a broader family of immune factors. Additionally, we showed that silencing the gene encoding the gustatory receptor Gr9 that is also associated with the Serratia infection phenotype drastically increased Serratia levels. The Gr9 antibacterial activity appears to be related to mosquito feeding behavior and to mostly rely on changes of neuropeptide F expression, together suggesting a behavioral immune response following Serratia infection. Our findings reveal that the mosquito response to oral Serratia infection comprises both an epithelial and a behavioral immune component. PMID:24603764

  1. The IgA nephropathy Biobank. An important starting point for the genetic dissection of a complex trait

    Directory of Open Access Journals (Sweden)

    Alexopoulos Efstathios

    2005-12-01

    from the study of Mendelian diseases has shown that the genetic dissection of a complex trait is more powerful when combined linkage-based, association-based, and sequence-based approaches are performed. This Biobank continuously expanded contains a sample size of adequately matched IgAN patients and healthy subjects, extended multiplex pedigrees, parent-child trios, thus permitting the combined genetic approaches with collaborative studies.

  2. A comprehensive platform for highly multiplexed mammalian functional genetic screens

    Directory of Open Access Journals (Sweden)

    Cheung-Ong Kahlin

    2011-05-01

    Full Text Available Abstract Background Genome-wide screening in human and mouse cells using RNA interference and open reading frame over-expression libraries is rapidly becoming a viable experimental approach for many research labs. There are a variety of gene expression modulation libraries commercially available, however, detailed and validated protocols as well as the reagents necessary for deconvolving genome-scale gene screens using these libraries are lacking. As a solution, we designed a comprehensive platform for highly multiplexed functional genetic screens in human, mouse and yeast cells using popular, commercially available gene modulation libraries. The Gene Modulation Array Platform (GMAP is a single microarray-based detection solution for deconvolution of loss and gain-of-function pooled screens. Results Experiments with specially constructed lentiviral-based plasmid pools containing ~78,000 shRNAs demonstrated that the GMAP is capable of deconvolving genome-wide shRNA "dropout" screens. Further experiments with a larger, ~90,000 shRNA pool demonstrate that equivalent results are obtained from plasmid pools and from genomic DNA derived from lentivirus infected cells. Parallel testing of large shRNA pools using GMAP and next-generation sequencing methods revealed that the two methods provide valid and complementary approaches to deconvolution of genome-wide shRNA screens. Additional experiments demonstrated that GMAP is equivalent to similar microarray-based products when used for deconvolution of open reading frame over-expression screens. Conclusion Herein, we demonstrate four major applications for the GMAP resource, including deconvolution of pooled RNAi screens in cells with at least 90,000 distinct shRNAs. We also provide detailed methodologies for pooled shRNA screen readout using GMAP and compare next-generation sequencing to GMAP (i.e. microarray based deconvolution methods.

  3. Dissecting genetic architecture of grape proanthocyanidin composition through quantitative trait locus mapping

    Directory of Open Access Journals (Sweden)

    Huang Yung-Fen

    2012-02-01

    Full Text Available Abstract Background Proanthocyanidins (PAs, or condensed tannins, are flavonoid polymers, widespread throughout the plant kingdom, which provide protection against herbivores while conferring organoleptic and nutritive values to plant-derived foods, such as wine. However, the genetic basis of qualitative and quantitative PA composition variation is still poorly understood. To elucidate the genetic architecture of the complex grape PA composition, we first carried out quantitative trait locus (QTL analysis on a 191-individual pseudo-F1 progeny. Three categories of PA variables were assessed: total content, percentages of constitutive subunits and composite ratio variables. For nine functional candidate genes, among which eight co-located with QTLs, we performed association analyses using a diversity panel of 141 grapevine cultivars in order to identify causal SNPs. Results Multiple QTL analysis revealed a total of 103 and 43 QTLs, respectively for seed and skin PA variables. Loci were mainly of additive effect while some loci were primarily of dominant effect. Results also showed a large involvement of pairwise epistatic interactions in shaping PA composition. QTLs for PA variables in skin and seeds differed in number, position, involvement of epistatic interaction and allelic effect, thus revealing different genetic determinisms for grape PA composition in seeds and skin. Association results were consistent with QTL analyses in most cases: four out of nine tested candidate genes (VvLAR1, VvMYBPA2, VvCHI1, VvMYBPA1 showed at least one significant association with PA variables, especially VvLAR1 revealed as of great interest for further functional investigation. Some SNP-phenotype associations were observed only in the diversity panel. Conclusions This study presents the first QTL analysis on grape berry PA composition with a comparison between skin and seeds, together with an association study. Our results suggest a complex genetic control for PA

  4. <Symposium I>Genetic dissection of age-related memory impairment in Drosophila

    OpenAIRE

    Yamazaki, Daisuke; Horiuchi, Junjiro; Saitoe, Minoru

    2010-01-01

    Age-related memory impairment (AMI) is an important phenotype of brain aging. Understandingthe molecular mechanisms underlying AMI is important not only from a scientific viewpoint but also for thedevelopment of therapeutics that may eventually lead to developing drugs to combat memory loss. AMI has beengenerally considered to be an overall or nonspecifi c decay of memory processes that results from dysfunction ofneural networks. However, extensive behavioral genetic characterization of AMI w...

  5. Genetic dissection of nonhost resistance of wild lettuce, Lactuca saligna, to downy mildew

    OpenAIRE

    Zhang, N.

    2008-01-01

    Lettuce downy mildew is the most destructive disease in lettuce (Lactuca spp.) cultivation and is caused by Bremia lactucae. The successful cross between its host L. sativa and the nonhost, L. saligna, and offers a rare chance to study the genetics of the nonhost resistance. From a set of 29 Backcross Inbred Lines (BILs) representing in total 96% of the L. saligna genome, 15 introgressions were identified to contribute to this resistance at one to four tested lettuce developmental stages and ...

  6. Dissecting the genetic architecture of F-1 hybrid sterility in house mice

    Czech Academy of Sciences Publication Activity Database

    Dzúr-Gejdošová, Mária; Šimeček, Petr; Gregorová, Soňa; Bhattacharyya, Tanmoy; Forejt, Jiří

    2012-01-01

    Roč. 66, č. 11 (2012), s. 3321-3335 ISSN 0014-3820 R&D Projects: GA MŠk(CZ) LD11079 Grant - others:AV ČR(CZ) Praemium Academiae Institutional research plan: CEZ:AV0Z50520514 Keywords : hybrid sterility * reproductive isolation * recombination hotspots * chromosome X * chromosome 17 Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.864, year: 2012

  7. Phenotypic Characterization and Genetic Dissection of Growth Period Traits in Soybean (Glycine max Using Association Mapping.

    Directory of Open Access Journals (Sweden)

    Zhangxiong Liu

    Full Text Available The growth period traits are important traits that affect soybean yield. The insights into the genetic basis of growth period traits can provide theoretical basis for cultivated area division, rational distribution, and molecular breeding for soybean varieties. In this study, genome-wide association analysis (GWAS was exploited to detect the quantitative trait loci (QTL for number of days to flowering (ETF, number of days from flowering to maturity (FTM, and number of days to maturity (ETM using 4032 single nucleotide polymorphism (SNP markers with 146 cultivars mainly from Northeast China. Results showed that abundant phenotypic variation was presented in the population, and variation explained by genotype, environment, and genotype by environment interaction were all significant for each trait. The whole accessions could be clearly clustered into two subpopulations based on their genetic relatedness, and accessions in the same group were almost from the same province. GWAS based on the unified mixed model identified 19 significant SNPs distributed on 11 soybean chromosomes, 12 of which can be consistently detected in both planting densities, and 5 of which were pleotropic QTL. Of 19 SNPs, 7 SNPs located in or close to the previously reported QTL or genes controlling growth period traits. The QTL identified with high resolution in this study will enrich our genomic understanding of growth period traits and could then be explored as genetic markers to be used in genomic applications in soybean breeding.

  8. Dissecting the genetic architecture of frost tolerance in Central European winter wheat.

    Science.gov (United States)

    Zhao, Yusheng; Gowda, Manje; Würschum, Tobias; Longin, C Friedrich H; Korzun, Viktor; Kollers, Sonja; Schachschneider, Ralf; Zeng, Jian; Fernando, Rohan; Dubcovsky, Jorge; Reif, Jochen C

    2013-11-01

    Abiotic stress tolerance in plants is pivotal to increase yield stability, but its genetic basis is still poorly understood. To gain insight into the genetic architecture of frost tolerance, this work evaluated a large mapping population of 1739 wheat (Triticum aestivum L.) lines and hybrids adapted to Central Europe in field trials in Germany and fingerprinted the lines with a 9000 single-nucleotide polymorphism array. Additive effects prevailed over dominance effects. A two-dimensional genome scan revealed the presence of epistatic effects. Genome-wide association mapping in combination with a robust cross-validation strategy identified one frost tolerance locus with a major effect located on chromosome 5B. This locus was not in linkage disequilibrium with the known frost loci Fr-B1 and Fr-B2. The use of the detected diagnostic markers on chromosome 5B, however, does not allow prediction of frost tolerance with high accuracy. Application of genome-wide selection approaches that take into account also loci with small effect sizes considerably improved prediction of the genetic variation of frost tolerance in wheat. The developed prediction model is valuable for improving frost tolerance because this trait displays a wide variation in occurrence across years and is therefore a difficult target for conventional phenotypic selection.

  9. A Systematic Genetic Screen to Dissect the MicroRNA Pathway in Drosophila.

    Science.gov (United States)

    Pressman, Sigal; Reinke, Catherine A; Wang, Xiaohong; Carthew, Richard W

    2012-04-01

    A central goal of microRNA biology is to elucidate the genetic program of miRNA function and regulation. However, relatively few of the effectors that execute miRNA repression have been identified. Because such genes may function in many developmental processes, mutations in them are expected to be pleiotropic and thus are discarded in most standard genetic screens. Here, we describe a systematic screen designed to identify all Drosophila genes in ∼40% of the genome that function in the miRNA pathway. To identify potentially pleiotropic genes, the screen analyzed clones of homozygous mutant cells in heterozygous animals. We identified 45 mutations representing 24 genes, and we molecularly characterized 9 genes. These include 4 previously known genes that encode core components of the miRNA pathway, including Drosha, Pasha, Dicer-1, and Ago1. The rest are new genes that function through chromatin remodeling, signaling, and mRNA decapping. The results suggest genetic screens that use clonal analysis can elucidate the miRNA program and that ∼100 genes are required to execute the miRNA program.

  10. Genetic Dissection of a Key Reproductive Barrier Between Nascent Species of House Mice

    Science.gov (United States)

    White, Michael A.; Steffy, Brian; Wiltshire, Tim; Payseur, Bret A.

    2011-01-01

    Reproductive isolation between species is often caused by deleterious interactions among loci in hybrids. Finding the genes involved in these incompatibilities provides insight into the mechanisms of speciation. With recently diverged subspecies, house mice provide a powerful system for understanding the genetics of reproductive isolation early in the speciation process. Although previous studies have yielded important clues about the genetics of hybrid male sterility in house mice, they have been restricted to F1 sterility or incompatibilities involving the X chromosome. To provide a more complete characterization of this key reproductive barrier, we conducted an F2 intercross between wild-derived inbred strains from two subspecies of house mice, Mus musculus musculus and Mus musculus domesticus. We identified a suite of autosomal and X-linked QTL that underlie measures of hybrid male sterility, including testis weight, sperm density, and sperm morphology. In many cases, the autosomal loci were unique to a specific sterility trait and exhibited an effect only when homozygous, underscoring the importance of examining reproductive barriers beyond the F1 generation. We also found novel two-locus incompatibilities between the M. m. musculus X chromosome and M. m. domesticus autosomal alleles. Our results reveal a complex genetic architecture for hybrid male sterility and suggest a prominent role for reproductive barriers in advanced generations in maintaining subspecies integrity in house mice. PMID:21750261

  11. Genetic dissection of a key reproductive barrier between nascent species of house mice.

    Science.gov (United States)

    White, Michael A; Steffy, Brian; Wiltshire, Tim; Payseur, Bret A

    2011-09-01

    Reproductive isolation between species is often caused by deleterious interactions among loci in hybrids. Finding the genes involved in these incompatibilities provides insight into the mechanisms of speciation. With recently diverged subspecies, house mice provide a powerful system for understanding the genetics of reproductive isolation early in the speciation process. Although previous studies have yielded important clues about the genetics of hybrid male sterility in house mice, they have been restricted to F1 sterility or incompatibilities involving the X chromosome. To provide a more complete characterization of this key reproductive barrier, we conducted an F2 intercross between wild-derived inbred strains from two subspecies of house mice, Mus musculus musculus and Mus musculus domesticus. We identified a suite of autosomal and X-linked QTL that underlie measures of hybrid male sterility, including testis weight, sperm density, and sperm morphology. In many cases, the autosomal loci were unique to a specific sterility trait and exhibited an effect only when homozygous, underscoring the importance of examining reproductive barriers beyond the F1 generation. We also found novel two-locus incompatibilities between the M. m. musculus X chromosome and M. m. domesticus autosomal alleles. Our results reveal a complex genetic architecture for hybrid male sterility and suggest a prominent role for reproductive barriers in advanced generations in maintaining subspecies integrity in house mice.

  12. Genetic dissection of acute ethanol responsive gene networks in prefrontal cortex: functional and mechanistic implications.

    Directory of Open Access Journals (Sweden)

    Aaron R Wolen

    Full Text Available Individual differences in initial sensitivity to ethanol are strongly related to the heritable risk of alcoholism in humans. To elucidate key molecular networks that modulate ethanol sensitivity we performed the first systems genetics analysis of ethanol-responsive gene expression in brain regions of the mesocorticolimbic reward circuit (prefrontal cortex, nucleus accumbens, and ventral midbrain across a highly diverse family of 27 isogenic mouse strains (BXD panel before and after treatment with ethanol.Acute ethanol altered the expression of ~2,750 genes in one or more regions and 400 transcripts were jointly modulated in all three. Ethanol-responsive gene networks were extracted with a powerful graph theoretical method that efficiently summarized ethanol's effects. These networks correlated with acute behavioral responses to ethanol and other drugs of abuse. As predicted, networks were heavily populated by genes controlling synaptic transmission and neuroplasticity. Several of the most densely interconnected network hubs, including Kcnma1 and Gsk3β, are known to influence behavioral or physiological responses to ethanol, validating our overall approach. Other major hub genes like Grm3, Pten and Nrg3 represent novel targets of ethanol effects. Networks were under strong genetic control by variants that we mapped to a small number of chromosomal loci. Using a novel combination of genetic, bioinformatic and network-based approaches, we identified high priority cis-regulatory candidate genes, including Scn1b, Gria1, Sncb and Nell2.The ethanol-responsive gene networks identified here represent a previously uncharacterized intermediate phenotype between DNA variation and ethanol sensitivity in mice. Networks involved in synaptic transmission were strongly regulated by ethanol and could contribute to behavioral plasticity seen with chronic ethanol. Our novel finding that hub genes and a small number of loci exert major influence over the ethanol

  13. The role of zebrafish (Danio rerio in dissecting the genetics and neural circuits of executive function

    Directory of Open Access Journals (Sweden)

    Matthew O Parker

    2013-04-01

    Full Text Available Zebrafish have great potential to contribute to our understanding of behavioural genetics and thus to contribute to our understanding of the aetiology of psychiatric disease. However, progress is dependent upon the rate at which behavioural assays addressing complex behavioural phenotypes are designed, reported and validated. Here we critically review existing behavioural assays with particular focus on the use of adult zebrafish to explore executive processes and phenotypes associated with human psychiatric disease. We outline the case for using zebrafish as models to study impulse control and attention, discussing the validity of applying extant rodent assays to zebrafish and evidence for the conservation of relevant neural circuits.

  14. Genetic dissection of black grain rice by the development of a near isogenic line

    OpenAIRE

    Maeda, Hiroaki; Yamaguchi, Takuya; Omoteno, Motoyasu; Takarada, Takeshi; Fujita, Kenji; Murata, Kazumasa; Iyama, Yukihide; Kojima, Yoichiro; Morikawa, Makiko; Ozaki, Hidenobu; Mukaino, Naoyuki; Kidani, Yoshinori; Ebitani, Takeshi

    2014-01-01

    Rice (Oryza sativa L.) can produce black grains as well as white. In black rice, the pericarp of the grain accumulates anthocyanin, which has antioxidant activity and is beneficial to human health. We developed a black rice introgression line in the genetic background of Oryza sativa L. ‘Koshihikari’, which is a leading variety in Japan. We used Oryza sativa L. ‘Hong Xie Nuo’ as the donor parent and backcrossed with ‘Koshihikari’ four times, resulting in a near isogenic line (NIL) for black g...

  15. Computational dissection of human episodic memory reveals mental process-specific genetic profiles

    Science.gov (United States)

    Luksys, Gediminas; Fastenrath, Matthias; Coynel, David; Freytag, Virginie; Gschwind, Leo; Heck, Angela; Jessen, Frank; Maier, Wolfgang; Milnik, Annette; Riedel-Heller, Steffi G.; Scherer, Martin; Spalek, Klara; Vogler, Christian; Wagner, Michael; Wolfsgruber, Steffen; Papassotiropoulos, Andreas; de Quervain, Dominique J.-F.

    2015-01-01

    Episodic memory performance is the result of distinct mental processes, such as learning, memory maintenance, and emotional modulation of memory strength. Such processes can be effectively dissociated using computational models. Here we performed gene set enrichment analyses of model parameters estimated from the episodic memory performance of 1,765 healthy young adults. We report robust and replicated associations of the amine compound SLC (solute-carrier) transporters gene set with the learning rate, of the collagen formation and transmembrane receptor protein tyrosine kinase activity gene sets with the modulation of memory strength by negative emotional arousal, and of the L1 cell adhesion molecule (L1CAM) interactions gene set with the repetition-based memory improvement. Furthermore, in a large functional MRI sample of 795 subjects we found that the association between L1CAM interactions and memory maintenance revealed large clusters of differences in brain activity in frontal cortical areas. Our findings provide converging evidence that distinct genetic profiles underlie specific mental processes of human episodic memory. They also provide empirical support to previous theoretical and neurobiological studies linking specific neuromodulators to the learning rate and linking neural cell adhesion molecules to memory maintenance. Furthermore, our study suggests additional memory-related genetic pathways, which may contribute to a better understanding of the neurobiology of human memory. PMID:26261317

  16. Computational dissection of human episodic memory reveals mental process-specific genetic profiles.

    Science.gov (United States)

    Luksys, Gediminas; Fastenrath, Matthias; Coynel, David; Freytag, Virginie; Gschwind, Leo; Heck, Angela; Jessen, Frank; Maier, Wolfgang; Milnik, Annette; Riedel-Heller, Steffi G; Scherer, Martin; Spalek, Klara; Vogler, Christian; Wagner, Michael; Wolfsgruber, Steffen; Papassotiropoulos, Andreas; de Quervain, Dominique J-F

    2015-09-01

    Episodic memory performance is the result of distinct mental processes, such as learning, memory maintenance, and emotional modulation of memory strength. Such processes can be effectively dissociated using computational models. Here we performed gene set enrichment analyses of model parameters estimated from the episodic memory performance of 1,765 healthy young adults. We report robust and replicated associations of the amine compound SLC (solute-carrier) transporters gene set with the learning rate, of the collagen formation and transmembrane receptor protein tyrosine kinase activity gene sets with the modulation of memory strength by negative emotional arousal, and of the L1 cell adhesion molecule (L1CAM) interactions gene set with the repetition-based memory improvement. Furthermore, in a large functional MRI sample of 795 subjects we found that the association between L1CAM interactions and memory maintenance revealed large clusters of differences in brain activity in frontal cortical areas. Our findings provide converging evidence that distinct genetic profiles underlie specific mental processes of human episodic memory. They also provide empirical support to previous theoretical and neurobiological studies linking specific neuromodulators to the learning rate and linking neural cell adhesion molecules to memory maintenance. Furthermore, our study suggests additional memory-related genetic pathways, which may contribute to a better understanding of the neurobiology of human memory.

  17. Genetic Dissection of Cardiac Remodeling in an Isoproterenol-Induced Heart Failure Mouse Model.

    Directory of Open Access Journals (Sweden)

    Jessica Jen-Chu Wang

    2016-07-01

    Full Text Available We aimed to understand the genetic control of cardiac remodeling using an isoproterenol-induced heart failure model in mice, which allowed control of confounding factors in an experimental setting. We characterized the changes in cardiac structure and function in response to chronic isoproterenol infusion using echocardiography in a panel of 104 inbred mouse strains. We showed that cardiac structure and function, whether under normal or stress conditions, has a strong genetic component, with heritability estimates of left ventricular mass between 61% and 81%. Association analyses of cardiac remodeling traits, corrected for population structure, body size and heart rate, revealed 17 genome-wide significant loci, including several loci containing previously implicated genes. Cardiac tissue gene expression profiling, expression quantitative trait loci, expression-phenotype correlation, and coding sequence variation analyses were performed to prioritize candidate genes and to generate hypotheses for downstream mechanistic studies. Using this approach, we have validated a novel gene, Myh14, as a negative regulator of ISO-induced left ventricular mass hypertrophy in an in vivo mouse model and demonstrated the up-regulation of immediate early gene Myc, fetal gene Nppb, and fibrosis gene Lgals3 in ISO-treated Myh14 deficient hearts compared to controls.

  18. Simultaneous Improvement and Genetic Dissection of Salt Tolerance of Rice (Oryza sativa L. by Designed QTL Pyramiding

    Directory of Open Access Journals (Sweden)

    Yunlong Pang

    2017-07-01

    Full Text Available Breeding of multi-stress tolerant rice varieties with higher grain yields is the best option to enhance the rice productivity of abiotic stresses prone areas. It also poses the greatest challenge to plant breeders to breed rice varieties for such stress prone conditions. Here, we carried out a designed QTL pyramiding experiment to develop high yielding “Green Super Rice” varieties with significantly improved tolerance to salt stress and grain yield. Using the F4 population derived from a cross between two selected introgression lines, we were able to develop six mostly homozygous promising high yielding lines with significantly improved salt tolerance and grain yield under optimal and/or saline conditions in 3 years. Simultaneous mapping using the same breeding population and tunable genotyping-by-sequencing technology, we identified three QTL affecting salt injury score and leaf chlorophyll content. By analyzing 32M SNP data of the grandparents and graphical genotypes of the parents, we discovered 87 positional candidate genes for salt tolerant QTL. According to their functional annotation, we inferred the most likely candidate genes. We demonstrated that designed QTL pyramiding is a powerful strategy for simultaneous improvement and genetic dissection of complex traits in rice.

  19. Genetic Dissection of Maize Embryonic Callus Regenerative Capacity Using Multi-Locus Genome-Wide Association Studies

    Directory of Open Access Journals (Sweden)

    Langlang Ma

    2018-04-01

    Full Text Available The regenerative capacity of the embryonic callus, a complex quantitative trait, is one of the main limiting factors for maize transformation. This trait was decomposed into five traits, namely, green callus rate (GCR, callus differentiating rate (CDR, callus plantlet number (CPN, callus rooting rate (CRR, and callus browning rate (CBR. To dissect the genetic foundation of maize transformation, in this study multi-locus genome-wide association studies (GWAS for the five traits were performed in a population of 144 inbred lines genotyped with 43,427 SNPs. Using the phenotypic values in three environments and best linear unbiased prediction (BLUP values, as a result, a total of 127, 56, 160, and 130 significant quantitative trait nucleotides (QTNs were identified by mrMLM, FASTmrEMMA, ISIS EM-BLASSO, and pLARmEB, respectively. Of these QTNs, 63 QTNs were commonly detected, including 15 across multiple environments and 58 across multiple methods. Allele distribution analysis showed that the proportion of superior alleles for 36 QTNs was <50% in 31 elite inbred lines. Meanwhile, these superior alleles had obviously additive effect on the regenerative capacity. This indicates that the regenerative capacity-related traits can be improved by proper integration of the superior alleles using marker-assisted selection. Moreover, a total of 40 candidate genes were found based on these common QTNs. Some annotated genes were previously reported to relate with auxin transport, cell fate, seed germination, or embryo development, especially, GRMZM2G108933 (WOX2 was found to promote maize transgenic embryonic callus regeneration. These identified candidate genes will contribute to a further understanding of the genetic foundation of maize embryonic callus regeneration.

  20. Genetic dissection of photoperiod response based on GWAS of pre-anthesis phase duration in spring barley.

    Directory of Open Access Journals (Sweden)

    Ahmad M Alqudah

    Full Text Available Heading time is a complex trait, and natural variation in photoperiod responses is a major factor controlling time to heading, adaptation and grain yield. In barley, previous heading time studies have been mainly conducted under field conditions to measure total days to heading. We followed a novel approach and studied the natural variation of time to heading in a world-wide spring barley collection (218 accessions, comprising of 95 photoperiod-sensitive (Ppd-H1 and 123 accessions with reduced photoperiod sensitivity (ppd-H1 to long-day (LD through dissecting pre-anthesis development into four major stages and sub-phases. The study was conducted under greenhouse (GH conditions (LD; 16/8 h; ∼20/∼16°C day/night. Genotyping was performed using a genome-wide high density 9K single nucleotide polymorphisms (SNPs chip which assayed 7842 SNPs. We used the barley physical map to identify candidate genes underlying genome-wide association scans (GWAS. GWAS for pre-anthesis stages/sub-phases in each photoperiod group provided great power for partitioning genetic effects on floral initiation and heading time. In addition to major genes known to regulate heading time under field conditions, several novel QTL with medium to high effects, including new QTL having major effects on developmental stages/sub-phases were found to be associated in this study. For example, highly associated SNPs tagged the physical regions around HvCO1 (barley CONSTANS1 and BFL (BARLEY FLORICAULA/LEAFY genes. Based upon our GWAS analysis, we propose a new genetic network model for each photoperiod group, which includes several newly identified genes, such as several HvCO-like genes, belonging to different heading time pathways in barley.

  1. Mighty Dwarfs: Arabidopsis autoimmune mutants and their usages in genetic dissection of plant immunity

    Directory of Open Access Journals (Sweden)

    Rowan Wersch

    2016-11-01

    Full Text Available Plants lack the adaptive immune system possessed by mammals. Instead they rely on innate immunity to defend against pathogen attacks. Genomes of higher plants encode a large number of plant immune receptors belonging to different protein families, which are involved in the detection of pathogens and activation of downstream defense pathways. Plant immunity is tightly controlled to avoid activation of defense responses in the absence of pathogens, as failure to do so can lead to autoimmunity that compromises plant growth and development. Many autoimmune mutants have been reported, most of which are associated with dwarfism and often spontaneous cell death. In this review, we summarize previously reported Arabidopsis autoimmune mutants, categorizing them based on their functional groups. We also discuss how their obvious morphological phenotypes make them ideal tools for epistatic analysis and suppressor screens, and summarize genetic screens that have been carried out in various autoimmune mutant backgrounds.

  2. Genetic dissection of milk yield traits and mastitis resistance QTL on chromosome 20 in dairy cattle

    DEFF Research Database (Denmark)

    Kadri, Naveen Kumar; Guldbrandtsen, Bernt; Lund, Mogens Sandø

    2015-01-01

    Intense selection to increase milk yield has had negative consequences for mastitis incidence in dairy cattle. Due to low heritability of mastitis resistance and an unfavorable genetic correlation with milk yield, a reduction in mastitis through traditional breeding has been difficult to achieve....... Here, we examined quantitative trait loci (QTL) that segregate for clinical mastitis (CM) and milk yield (MY) on Bos taurus autosome 20 (BTA20) to determine whether both traits are affected by a single polymorphism (pleiotropy) or by multiple closely linked polymorphisms. In the latter...... (RDC) and Danish Jersey cattle (JER) with the goal of determining whether these QTL identified in Holsteins were segregating across breeds. Genotypes for 12,566 animals (5,966 HOL, 5,458 RDC, and 1,142 JER) were determined by using the Illumina Bovine SNP50 BeadChip (50k), which identifies 1,568 single...

  3. Multilayered Genetic and Omics Dissection of Mitochondrial Activity in a Mouse Reference Population

    Science.gov (United States)

    Wu, Yibo; Williams, Evan G.; Dubuis, Sébastien; Mottis, Adrienne; Jovaisaite, Virginija; Houten, Sander M.; Argmann, Carmen A.; Faridi, Pouya; Wolski, Witold; Kutalik, Zoltán; Zamboni, Nicola; Auwerx, Johan; Aebersold, Ruedi

    2014-01-01

    SUMMARY The manner by which genotype and environment affect complex phenotypes is one of the fundamental questions in biology. In this study, we quantified the transcriptome—a subset of the metabolome—and, using targeted proteomics, quantified a subset of the liver proteome from 40 strains of the BXD mouse genetic reference population on two diverse diets. We discovered dozens of transcript, protein, and metabolite QTLs, several of which linked to metabolic phenotypes. Most prominently, Dhtkd1 was identified as a primary regulator of 2-aminoadipate, explaining variance in fasted glucose and diabetes status in both mice and humans. These integrated molecular profiles also allowed further characterization of complex pathways, particularly the mitochondrial unfolded protein response (UPRmt). UPRmt shows strikingly variant responses at the transcript and protein level that are remarkably conserved among C. elegans, mice, and humans. Overall, these examples demonstrate the value of an integrated multilayered omics approach to characterize complex metabolic phenotypes. PMID:25215496

  4. A Genome-wide Combinatorial Strategy Dissects Complex Genetic Architecture of Seed Coat Color in Chickpea.

    Science.gov (United States)

    Bajaj, Deepak; Das, Shouvik; Upadhyaya, Hari D; Ranjan, Rajeev; Badoni, Saurabh; Kumar, Vinod; Tripathi, Shailesh; Gowda, C L Laxmipathi; Sharma, Shivali; Singh, Sube; Tyagi, Akhilesh K; Parida, Swarup K

    2015-01-01

    The study identified 9045 high-quality SNPs employing both genome-wide GBS- and candidate gene-based SNP genotyping assays in 172, including 93 cultivated (desi and kabuli) and 79 wild chickpea accessions. The GWAS in a structured population of 93 sequenced accessions detected 15 major genomic loci exhibiting significant association with seed coat color. Five seed color-associated major genomic loci underlying robust QTLs mapped on a high-density intra-specific genetic linkage map were validated by QTL mapping. The integration of association and QTL mapping with gene haplotype-specific LD mapping and transcript profiling identified novel allelic variants (non-synonymous SNPs) and haplotypes in a MATE secondary transporter gene regulating light/yellow brown and beige seed coat color differentiation in chickpea. The down-regulation and decreased transcript expression of beige seed coat color-associated MATE gene haplotype was correlated with reduced proanthocyanidins accumulation in the mature seed coats of beige than light/yellow brown seed colored desi and kabuli accessions for their coloration/pigmentation. This seed color-regulating MATE gene revealed strong purifying selection pressure primarily in LB/YB seed colored desi and wild Cicer reticulatum accessions compared with the BE seed colored kabuli accessions. The functionally relevant molecular tags identified have potential to decipher the complex transcriptional regulatory gene function of seed coat coloration and for understanding the selective sweep-based seed color trait evolutionary pattern in cultivated and wild accessions during chickpea domestication. The genome-wide integrated approach employed will expedite marker-assisted genetic enhancement for developing cultivars with desirable seed coat color types in chickpea.

  5. Diagnostic and therapeutic implications of genetic heterogeneity in myeloid neoplasms uncovered by comprehensive mutational analysis

    Directory of Open Access Journals (Sweden)

    Sarah M. Choi

    2017-01-01

    Full Text Available While growing use of comprehensive mutational analysis has led to the discovery of innumerable genetic alterations associated with various myeloid neoplasms, the under-recognized phenomenon of genetic heterogeneity within such neoplasms creates a potential for diagnostic confusion. Here, we describe two cases where expanded mutational testing led to amendment of an initial diagnosis of chronic myelogenous leukemia with subsequent altered treatment of each patient. We demonstrate the power of comprehensive testing in ensuring appropriate classification of genetically heterogeneous neoplasms, and emphasize thoughtful analysis of molecular and genetic data as an essential component of diagnosis and management.

  6. Genetic Dissection of Aversive Associative Olfactory Learning and Memory in Drosophila Larvae.

    Science.gov (United States)

    Widmann, Annekathrin; Artinger, Marc; Biesinger, Lukas; Boepple, Kathrin; Peters, Christina; Schlechter, Jana; Selcho, Mareike; Thum, Andreas S

    2016-10-01

    Memory formation is a highly complex and dynamic process. It consists of different phases, which depend on various neuronal and molecular mechanisms. In adult Drosophila it was shown that memory formation after aversive Pavlovian conditioning includes-besides other forms-a labile short-term component that consolidates within hours to a longer-lasting memory. Accordingly, memory formation requires the timely controlled action of different neuronal circuits, neurotransmitters, neuromodulators and molecules that were initially identified by classical forward genetic approaches. Compared to adult Drosophila, memory formation was only sporadically analyzed at its larval stage. Here we deconstruct the larval mnemonic organization after aversive olfactory conditioning. We show that after odor-high salt conditioning larvae form two parallel memory phases; a short lasting component that depends on cyclic adenosine 3'5'-monophosphate (cAMP) signaling and synapsin gene function. In addition, we show for the first time for Drosophila larvae an anesthesia resistant component, which relies on radish and bruchpilot gene function, protein kinase C activity, requires presynaptic output of mushroom body Kenyon cells and dopamine function. Given the numerical simplicity of the larval nervous system this work offers a unique prospect for studying memory formation of defined specifications, at full-brain scope with single-cell, and single-synapse resolution.

  7. Genetic dissection of black grain rice by the development of a near isogenic line.

    Science.gov (United States)

    Maeda, Hiroaki; Yamaguchi, Takuya; Omoteno, Motoyasu; Takarada, Takeshi; Fujita, Kenji; Murata, Kazumasa; Iyama, Yukihide; Kojima, Yoichiro; Morikawa, Makiko; Ozaki, Hidenobu; Mukaino, Naoyuki; Kidani, Yoshinori; Ebitani, Takeshi

    2014-06-01

    Rice (Oryza sativa L.) can produce black grains as well as white. In black rice, the pericarp of the grain accumulates anthocyanin, which has antioxidant activity and is beneficial to human health. We developed a black rice introgression line in the genetic background of Oryza sativa L. 'Koshihikari', which is a leading variety in Japan. We used Oryza sativa L. 'Hong Xie Nuo' as the donor parent and backcrossed with 'Koshihikari' four times, resulting in a near isogenic line (NIL) for black grains. A whole genome survey of the introgression line using DNA markers suggested that three regions, on chromosomes 1, 3 and 4 are associated with black pigmentation. The locus on chromosome 3 has not been identified previously. A mapping analysis with 546 F2 plants derived from a cross between the black rice NIL and 'Koshihikari' was evaluated. The results indicated that all three loci are essential for black pigmentation. We named these loci Kala1, Kala3 and Kala4. The black rice NIL was evaluated for eating quality and general agronomic traits. The eating quality was greatly superior to that of 'Okunomurasaki', an existing black rice variety. The isogenicity of the black rice NIL to 'Koshihikari' was very high.

  8. Genetic Dissection of Aversive Associative Olfactory Learning and Memory in Drosophila Larvae

    Science.gov (United States)

    Widmann, Annekathrin; Artinger, Marc; Biesinger, Lukas; Boepple, Kathrin; Schlechter, Jana; Selcho, Mareike; Thum, Andreas S.

    2016-01-01

    Memory formation is a highly complex and dynamic process. It consists of different phases, which depend on various neuronal and molecular mechanisms. In adult Drosophila it was shown that memory formation after aversive Pavlovian conditioning includes—besides other forms—a labile short-term component that consolidates within hours to a longer-lasting memory. Accordingly, memory formation requires the timely controlled action of different neuronal circuits, neurotransmitters, neuromodulators and molecules that were initially identified by classical forward genetic approaches. Compared to adult Drosophila, memory formation was only sporadically analyzed at its larval stage. Here we deconstruct the larval mnemonic organization after aversive olfactory conditioning. We show that after odor-high salt conditioning larvae form two parallel memory phases; a short lasting component that depends on cyclic adenosine 3’5’-monophosphate (cAMP) signaling and synapsin gene function. In addition, we show for the first time for Drosophila larvae an anesthesia resistant component, which relies on radish and bruchpilot gene function, protein kinase C activity, requires presynaptic output of mushroom body Kenyon cells and dopamine function. Given the numerical simplicity of the larval nervous system this work offers a unique prospect for studying memory formation of defined specifications, at full-brain scope with single-cell, and single-synapse resolution. PMID:27768692

  9. Genetic dissection of host immune response in pneumonia development and progression.

    Science.gov (United States)

    Smelaya, Tamara V; Belopolskaya, Olesya B; Smirnova, Svetlana V; Kuzovlev, Artem N; Moroz, Viktor V; Golubev, Arkadiy M; Pabalan, Noel A; Salnikova, Lyubov E

    2016-10-11

    The role of host genetic variation in pneumonia development and outcome is poorly understood. We studied common polymorphisms in the genes of proinflammatory cytokines (IL6 rs1800795, IL8 rs4073, IL1B rs16944), anti-inflammatory cytokines (IL10 rs1800896, IL4 rs2243250, IL13 rs20541) and toll-like receptors (TLR2 rs5743708 and rs4696480, TLR4 rs4986791, TLR9 rs352139, rs5743836 and rs187084) in patients with community-acquired pneumonia (CAP) (390 cases, 203 controls) and nosocomial pneumonia (355 cases, 216 controls). Experimental data were included in a series of 11 meta-analyses and eight subset analyses related to pneumonia susceptibility and outcome. TLR2 rs5743708 minor genotype appeared to be associated with CAP/Legionnaires' disease/pneumococcal disease. In CAP patients, the IL6 rs1800795-C allele was associated with severe sepsis/septic shock/severe systemic inflammatory response, while the IL10 rs1800896-A allele protected against the development of these critical conditions. To contribute to deciphering of the above results, we performed an in silico analysis and a qualitative synthesis of literature data addressing basal and stimulated genotype-specific expression level. This data together with database information on transcription factors' affinity changes caused by SNPs in putative promoter regions, the results of linkage disequilibrium analysis along with SNPs functional annotations supported assumptions about the complexity underlying the revealed associations.

  10. Genetic Dissection of Aversive Associative Olfactory Learning and Memory in Drosophila Larvae.

    Directory of Open Access Journals (Sweden)

    Annekathrin Widmann

    2016-10-01

    Full Text Available Memory formation is a highly complex and dynamic process. It consists of different phases, which depend on various neuronal and molecular mechanisms. In adult Drosophila it was shown that memory formation after aversive Pavlovian conditioning includes-besides other forms-a labile short-term component that consolidates within hours to a longer-lasting memory. Accordingly, memory formation requires the timely controlled action of different neuronal circuits, neurotransmitters, neuromodulators and molecules that were initially identified by classical forward genetic approaches. Compared to adult Drosophila, memory formation was only sporadically analyzed at its larval stage. Here we deconstruct the larval mnemonic organization after aversive olfactory conditioning. We show that after odor-high salt conditioning larvae form two parallel memory phases; a short lasting component that depends on cyclic adenosine 3'5'-monophosphate (cAMP signaling and synapsin gene function. In addition, we show for the first time for Drosophila larvae an anesthesia resistant component, which relies on radish and bruchpilot gene function, protein kinase C activity, requires presynaptic output of mushroom body Kenyon cells and dopamine function. Given the numerical simplicity of the larval nervous system this work offers a unique prospect for studying memory formation of defined specifications, at full-brain scope with single-cell, and single-synapse resolution.

  11. Dissecting the genetic architecture of F1 hybrid sterility in house mice.

    Science.gov (United States)

    Dzur-Gejdosova, Maria; Simecek, Petr; Gregorova, Sona; Bhattacharyya, Tanmoy; Forejt, Jiri

    2012-11-01

    Hybrid sterility as a postzygotic reproductive isolation mechanism has been studied for over 80 years, yet the first identifications of hybrid sterility genes in Drosophila and mouse are quite recent. To study the genetic architecture of F(1) hybrid sterility between young subspecies of house mouse Mus m. domesticus and M. m. musculus, we conducted QTL analysis of a backcross between inbred strains representing these two subspecies and probed the role of individual chromosomes in hybrid sterility using the intersubspecific chromosome substitution strains. We provide direct evidence that the asymmetry in male infertility between reciprocal crosses is conferred by the middle region of M. m. musculus Chr X, thus excluding other potential candidates such as Y, imprinted genes, and mitochondrial DNA. QTL analysis identified strong hybrid sterility loci on Chr 17 and Chr X and predicted a set of interchangeable autosomal loci, a subset of which is sufficient to activate the Dobzhansky-Muller incompatibility of the strong loci. Overall, our results indicate the oligogenic nature of F(1) hybrid sterility, which should be amenable to reconstruction by proper combination of chromosome substitution strains. Such a prefabricated model system should help to uncover the gene networks and molecular mechanisms underlying hybrid sterility. © 2012 The Author(s). Evolution© 2012 The Society for the Study of Evolution.

  12. Genetic dissection of pheromone processing reveals main olfactory system-mediated social behaviors in mice.

    Science.gov (United States)

    Matsuo, Tomohiko; Hattori, Tatsuya; Asaba, Akari; Inoue, Naokazu; Kanomata, Nobuhiro; Kikusui, Takefumi; Kobayakawa, Reiko; Kobayakawa, Ko

    2015-01-20

    Most mammals have two major olfactory subsystems: the main olfactory system (MOS) and vomeronasal system (VNS). It is now widely accepted that the range of pheromones that control social behaviors are processed by both the VNS and the MOS. However, the functional contributions of each subsystem in social behavior remain unclear. To genetically dissociate the MOS and VNS functions, we established two conditional knockout mouse lines that led to either loss-of-function in the entire MOS or in the dorsal MOS. Mice with whole-MOS loss-of-function displayed severe defects in active sniffing and poor survival through the neonatal period. In contrast, when loss-of-function was confined to the dorsal MOB, sniffing behavior, pheromone recognition, and VNS activity were maintained. However, defects in a wide spectrum of social behaviors were observed: attraction to female urine and the accompanying ultrasonic vocalizations, chemoinvestigatory preference, aggression, maternal behaviors, and risk-assessment behaviors in response to an alarm pheromone. Functional dissociation of pheromone detection and pheromonal induction of behaviors showed the anterior olfactory nucleus (AON)-regulated social behaviors downstream from the MOS. Lesion analysis and neural activation mapping showed pheromonal activation in multiple amygdaloid and hypothalamic nuclei, important regions for the expression of social behavior, was dependent on MOS and AON functions. Identification of the MOS-AON-mediated pheromone pathway may provide insights into pheromone signaling in animals that do not possess a functional VNS, including humans.

  13. Genetic dissection of grain traits in Yamadanishiki, an excellent sake-brewing rice cultivar.

    Science.gov (United States)

    Okada, Satoshi; Suehiro, Miki; Ebana, Kaworu; Hori, Kiyosumi; Onogi, Akio; Iwata, Hiroyoshi; Yamasaki, Masanori

    2017-12-01

    The grain traits of Yamadanishiki, an excellent sake-brewing rice cultivar in Japan, are governed by multiple QTLs, namely, a total of 42 QTLs including six major QTLs. Japanese rice wine (sake) is produced using brewing rice (Oryza sativa L.) that carries traits desirable for sake-brewing, such as a larger grain size and higher white-core expression rate (WCE) compared to cooking rice cultivars. However, the genetic basis for these traits in brewing rice cultivars is still unclear. We performed analyses of quantitative trait locus (QTL) of grain and days to heading over 3 years on populations derived from crosses between Koshihikari, a cooking rice, and Yamadanishiki, an excellent sake-brewing rice. A total of 42 QTLs were detected for the grain traits, and the Yamadanishiki alleles at 16 QTLs contributed to larger grain size. Two major QTLs essential for regulating both 100-grain weight (GWt) and grain width (GWh) were harbored in the same regions on chromosomes 5 and 10. An interaction was noted between the environment and the QTL associated with WCE on chromosome 6, which was detected in two of 3 years. In addition, two QTLs for WCE on chromosomes 3 and 10 overlapped with the QTLs for GWt and GWh, suggesting that QTLs associated with grain size also play an important role in the formation of white-core. Despite differences in the rate of grain growth in both Koshihikari and Yamadanishiki across 2 years, the WCE in Yamadanishiki remained consistent, thus demonstrating that the formation of white-core does not depend on grain filling speed. These data can be informative for programs involved in breeding better cooking and brewing rice cultivars.

  14. Primary cardiac tumors associated with genetic syndromes. A comprehensive review

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Elizabeth; Agarwal, Prachi P. [University of Michigan Health System, University Hospital Division of Cardiothoracic Radiology, Department of Radiology, Ann Arbor, MI (United States); Mahani, Maryam Ghadimi [University of Michigan Health System, University Hospital Division of Cardiothoracic Radiology, Department of Radiology, Ann Arbor, MI (United States); University of Michigan Health System, Section of Pediatric Radiology, C.S. Mott Children' s Hospital, Department of Radiology, Ann Arbor, MI (United States); Lu, Jimmy C.; Dorfman, Adam L. [University of Michigan Health System, Section of Pediatric Radiology, C.S. Mott Children' s Hospital, Department of Radiology, Ann Arbor, MI (United States); C.S. Mott Children' s Hospital, University of Michigan Health System, Section of Pediatric Cardiology, Department of Pediatrics, Ann Arbor, MI (United States); Srinivasan, Ashok [University of Michigan Health System, Division of Neuroradiology, Department of Radiology, Ann Arbor, MI (United States)

    2018-02-15

    Various cardiac tumors occur in the setting of a genetic syndrome such as myxomas in Carney complex and rhabdomyomas in tuberous sclerosis. Tumor biology can be different in syndromic forms, and on imaging children sometimes demonstrate additional manifestations of the underlying syndrome. We discuss the imaging appearance of cardiac tumors occurring in the framework of a genetic syndrome, the findings that suggest an underlying syndrome, and the impact on management. (orig.)

  15. Primary cardiac tumors associated with genetic syndromes. A comprehensive review

    International Nuclear Information System (INIS)

    Lee, Elizabeth; Agarwal, Prachi P.; Mahani, Maryam Ghadimi; Lu, Jimmy C.; Dorfman, Adam L.; Srinivasan, Ashok

    2018-01-01

    Various cardiac tumors occur in the setting of a genetic syndrome such as myxomas in Carney complex and rhabdomyomas in tuberous sclerosis. Tumor biology can be different in syndromic forms, and on imaging children sometimes demonstrate additional manifestations of the underlying syndrome. We discuss the imaging appearance of cardiac tumors occurring in the framework of a genetic syndrome, the findings that suggest an underlying syndrome, and the impact on management. (orig.)

  16. Test Anxiety and a High-Stakes Standardized Reading Comprehension Test: A Behavioral Genetics Perspective

    Science.gov (United States)

    Wood, Sarah G.; Hart, Sara A.; Little, Callie W.; Phillips, Beth M.

    2016-01-01

    Past research suggests that reading comprehension test performance does not rely solely on targeted cognitive processes such as word reading, but also on other nontarget aspects such as test anxiety. Using a genetically sensitive design, we sought to understand the genetic and environmental etiology of the association between test anxiety and…

  17. Genetic dissection of growth, wood basic density and gene expression in interspecific backcrosses of Eucalyptus grandis and E. urophylla

    Science.gov (United States)

    2012-01-01

    Background F1 hybrid clones of Eucalyptus grandis and E. urophylla are widely grown for pulp and paper production in tropical and subtropical regions. Volume growth and wood quality are priority objectives in Eucalyptus tree improvement. The molecular basis of quantitative variation and trait expression in eucalypt hybrids, however, remains largely unknown. The recent availability of a draft genome sequence (http://www.phytozome.net) and genome-wide genotyping platforms, combined with high levels of genetic variation and high linkage disequilibrium in hybrid crosses, greatly facilitate the detection of quantitative trait loci (QTLs) as well as underlying candidate genes for growth and wood property traits. In this study, we used Diversity Arrays Technology markers to assess the genetic architecture of volume growth (diameter at breast height, DBH) and wood basic density in four-year-old progeny of an interspecific backcross pedigree of E. grandis and E. urophylla. In addition, we used Illumina RNA-Seq expression profiling in the E. urophylla backcross family to identify cis- and trans-acting polymorphisms (eQTLs) affecting transcript abundance of genes underlying QTLs for wood basic density. Results A total of five QTLs for DBH and 12 for wood basic density were identified in the two backcross families. Individual QTLs for DBH and wood basic density explained 3.1 to 12.2% of phenotypic variation. Candidate genes underlying QTLs for wood basic density on linkage groups 8 and 9 were found to share trans-acting eQTLs located on linkage groups 4 and 10, which in turn coincided with QTLs for wood basic density suggesting that these QTLs represent segregating components of an underlying transcriptional network. Conclusion This is the first demonstration of the use of next-generation expression profiling to quantify transcript abundance in a segregating tree population and identify candidate genes potentially affecting wood property variation. The QTLs identified in this

  18. Comprehensive bidding strategies with genetic programming/finite state automata

    International Nuclear Information System (INIS)

    Richter, C.W. Jr.; Sheble, G.B.; Ashlock, D.

    1999-01-01

    This research is an extension of the authors' previous work in double auctions aimed at developing bidding strategies for electric utilities which trade electricity competitively. The improvements detailed in this paper come from using data structures which combine genetic programming and finite state automata termed GP-Automata. The strategies developed by the method described here are adaptive--reacting to inputs--whereas the previously developed strategies were only suitable in the particular scenario for which they had been designed. The strategies encoded in the GP-Automata are tested in an auction simulator. The simulator pits them against other distribution companies (distcos) and generation companies (gencos), buying and selling power via double auctions implemented in regional commodity exchanges. The GP-Automata are evolved with a genetic algorithm so that they possess certain characteristics. In addition to designing successful bidding strategies (whose usage would result in higher profits) the resulting strategies can also be designed to imitate certain types of trading behaviors. The resulting strategies can be implemented directly in on-line trading, or can be used as realistic competitors in an off-line trading simulator

  19. Comprehensive Clinical Phenotyping and Genetic Mapping for the Discovery of Autism Susceptibility Genes

    Science.gov (United States)

    2013-03-14

    behavioral teaching strategies and best practice for teaching students with autism spectrum disorders 4.52 Learn strategies for incorporating IEP goals...AFRL-SA-WP-TR-2013-0013 Comprehensive Clinical Phenotyping and Genetic Mapping for the Discovery of Autism Susceptibility Genes...Genetic Mapping for the Discovery of Autism Susceptibility Genes 5a. CONTRACT NUMBER N/A 5b. GRANT NUMBER N/A 5c. PROGRAM ELEMENT NUMBER N/A 6

  20. Pathogenesis Concept Of Extracranial Dissections In Iran

    Directory of Open Access Journals (Sweden)

    Kavian Ghandehari

    2017-02-01

    Full Text Available Background: Dissection of Extracranial Internal Carotid Artery (EICA and Extracranial Vertebral Artery (EVA is an amportant cause of brain infarction with miscellaneous etiologies around the world. Methods: A prospective observational clinical study was conducted in Ghaem Hospital, Mashhad, Iran between 2008-2016. Diagnosis of brain infarction and TIA was made by stroke neurologist. Detection of EICA and EVA dissections were made by performing CT angiography  and MR angiography  or DSA in the suspected patients. Demographic features, clinical manifestations, territorial involvement, pathophysiology and pathogenesis of dissections were assessed in all of the patients. Pathogenesis of dissections was classified as Idiopathic, Trumatic, Postural and Genetic categories. Results: Twenty eight patients (21 males, 7 females were admitted with extracranial arterial dissection. Mean age of males and females with dissection was 39.81± 4.2 and 35.71±6.1 years respectively. Influence of gender on age of the patients was not significant, p>0.05. Among patients with extracranial dissection only 3.6% had atherosclerosis risk factors and 96.4% had no other cause for brain infarction. 100% of extracranial dissections in males occured in carotid territory, while 28.6% of females had dissection in the EVA. The influence of gender in territory of dissection was significant, p<0.05. Idiopathic dissections and genetic susceptibility was found in 10.7% and 3.6% of extracranial dissections respectively. 53.5% of the patienrs had trumatic pathogenesis for extracranial dissections and 32.1% developed dissection due to special neck  postures. Important details in pathophysiology and pathogenesis of extracranial dissections will be presented in the lecture. Conclusion: Stroke patients with extracranial dissections have characteristic demographic and  territorial involvement. Trumatic pathogenesis is the most frequent cause of dissection in Iran followed by neck

  1. Genetic determinism of phenological traits highly affected by climate change in Prunus avium: flowering date dissected into chilling and heat requirements.

    Science.gov (United States)

    Castède, Sophie; Campoy, José Antonio; García, José Quero; Le Dantec, Loïck; Lafargue, Maria; Barreneche, Teresa; Wenden, Bénédicte; Dirlewanger, Elisabeth

    2014-04-01

    The present study investigated the genetic determinism of flowering date (FD), dissected into chilling (CR) and heat (HR) requirements. Elucidation of the genetic determinism of flowering traits is crucial to anticipate the increasing of ecological misalignment of adaptative traits with novel climate conditions in most temperate-fruit species. CR and HR were evaluated over 3 yr and FD over 5 yr in an intraspecific sweet cherry (Prunus avium) F1 progeny, and FD over 6 yr in a different F1 progeny. One quantitative trait locus (QTL) with major effect and high stability between years of evaluation was detected for CR and FD in the same region of linkage group (LG) 4. For HR, no stable QTL was detected. Candidate genes underlying the major QTL on LG4 were investigated and key genes were identified for CR and FD. Phenotypic dissection of FD and year repetitions allowed us to identify CR as the high heritable component of FD and a high genotype × environment interaction for HR. QTLs for CR reported in this study are the first described in this species. Our results provide a foundation for the identification of genes involved in CR and FD in sweet cherry which could be used to develop ideotypes adapted to future climatic conditions. © 2014 INRA. New Phytologist © 2014 New Phytologist Trust.

  2. Genome-wide conserved non-coding microsatellite (CNMS) marker-based integrative genetical genomics for quantitative dissection of seed weight in chickpea.

    Science.gov (United States)

    Bajaj, Deepak; Saxena, Maneesha S; Kujur, Alice; Das, Shouvik; Badoni, Saurabh; Tripathi, Shailesh; Upadhyaya, Hari D; Gowda, C L L; Sharma, Shivali; Singh, Sube; Tyagi, Akhilesh K; Parida, Swarup K

    2015-03-01

    Phylogenetic footprinting identified 666 genome-wide paralogous and orthologous CNMS (conserved non-coding microsatellite) markers from 5'-untranslated and regulatory regions (URRs) of 603 protein-coding chickpea genes. The (CT)n and (GA)n CNMS carrying CTRMCAMV35S and GAGA8BKN3 regulatory elements, respectively, are abundant in the chickpea genome. The mapped genic CNMS markers with robust amplification efficiencies (94.7%) detected higher intraspecific polymorphic potential (37.6%) among genotypes, implying their immense utility in chickpea breeding and genetic analyses. Seventeen differentially expressed CNMS marker-associated genes showing strong preferential and seed tissue/developmental stage-specific expression in contrasting genotypes were selected to narrow down the gene targets underlying seed weight quantitative trait loci (QTLs)/eQTLs (expression QTLs) through integrative genetical genomics. The integration of transcript profiling with seed weight QTL/eQTL mapping, molecular haplotyping, and association analyses identified potential molecular tags (GAGA8BKN3 and RAV1AAT regulatory elements and alleles/haplotypes) in the LOB-domain-containing protein- and KANADI protein-encoding transcription factor genes controlling the cis-regulated expression for seed weight in the chickpea. This emphasizes the potential of CNMS marker-based integrative genetical genomics for the quantitative genetic dissection of complex seed weight in chickpea. © The Author 2014. Published by Oxford University Press on behalf of the Society for Experimental Biology.

  3. [A new teaching mode improves the effect of comprehensive experimental teaching of genetics].

    Science.gov (United States)

    Fenghua, He; Jieqiang, Li; Biyan, Zhu; Feng, Gao

    2015-04-01

    To improve the research atmosphere in genetics experimental teaching and develop students' creativity in research, we carried out a reform in comprehensive experimental teaching which is one of important modules for genetics practice. In our new student-centered teaching mode, they chose research topics, performed experiments and took innovative approaches independently. With the open laboratory and technical platform in our experimental teaching center, students finished their experiments and were required to write a mini-research article. Comprehensive experimental teaching is a scientific research practice before they complete their thesis. Through this teaching practice, students' research skills in experimental design and operation, data analysis and results presentation, as well as their collaboration spirit and innovation consciousness are strengthened.

  4. Comprehensive Genetic Characterization of Intraprostatic Chronic Inflammation and Prostate Cancer in African American Men

    Science.gov (United States)

    2017-09-01

    Response and Eradication of Androgen Receptor Amplification with High-dose Testosterone in Prostate Cancer ." Eur Urol 71(6): 997-998. Case Report...34 Prostate -specific Antigen Response and Eradication of Androgen Receptor Amplification with High-dose Testosterone in Prostate Cancer ." Eur Urol 71...AWARD NUMBER: W81XWH-15-1-0379 TITLE: Comprehensive genetic characterization of intraprostatic chronic inflammation and prostate cancer in

  5. Comprehensive Clinical Phenotyping & Genetic Mapping for the Discovery of Autism Susceptibility Genes

    Science.gov (United States)

    2012-12-05

    teaching students with autism spectrum disorders 4.52 Learn strategies for incorporating IEP goals and district standard into daily teaching...W403 Columbus, OH 43205 Final Report Comprehensive Clinical Phenotyping & Genetic Mapping for the Discovery of Autism Susceptibility Genes...QFOXGHDUHDFRGH 1.0 Summary In 2006, the Central Ohio Registry for Autism (CORA) was initiated as a collaboration between Wright-Patterson Air

  6. Genetic diversity and relationship of Hedychium from Northeast India as dissected using PCA analysis and hierarchical clustering.

    Science.gov (United States)

    Basak, Supriyo; Ramesh, Aadi Moolam; Kesari, Vigya; Parida, Ajay; Mitra, Sudip; Rangan, Latha

    2014-12-01

    Molecular genetic fingerprints of eleven Hedychium species from Northeast India were developed using PCR based markers. Fifteen inter-simple sequence repeats (ISSRs) and five amplified fragment length polymorphism (AFLP) primers produced 547 polymorphic fragments. Positive correlation (r = 0.46) was observed between the mean genetic similarity and genetic diversity parameters at the inter-species level. AFLP and ISSR markers were able to group the species according to its altitude and intensity of flower aroma. Cophenetic correlation coefficients between the dendrogram and the original similarity matrix were significant for ISSR (r = 0.89) compared to AFLP (r = 0.83) markers. This genetic characterization of Hedychium from Northeast India contributes to the knowledge of genetic structure of the species and can be used to define strategies for their conservation and management.

  7. Dissecting the genetic and metabolic mechanisms of adaptation to the knockout of a major metabolic enzyme in Escherichia coli

    DEFF Research Database (Denmark)

    Long, Christopher P.; Gonzalez, Jacqueline E.; Feist, Adam M.

    2018-01-01

    Unraveling the mechanisms of microbial adaptive evolution following genetic or environmental challenges is of fundamental interest in biological science and engineering. When the challenge is the loss of a metabolic enzyme, adaptive responses can also shed significant insight into metabolic...

  8. Dissection of Genetic Factors underlying Wheat Kernel Shape and Size in an Elite × Nonadapted Cross using a High Density SNP Linkage Map

    Directory of Open Access Journals (Sweden)

    Ajay Kumar

    2016-03-01

    Full Text Available Wheat kernel shape and size has been under selection since early domestication. Kernel morphology is a major consideration in wheat breeding, as it impacts grain yield and quality. A population of 160 recombinant inbred lines (RIL, developed using an elite (ND 705 and a nonadapted genotype (PI 414566, was extensively phenotyped in replicated field trials and genotyped using Infinium iSelect 90K assay to gain insight into the genetic architecture of kernel shape and size. A high density genetic map consisting of 10,172 single nucleotide polymorphism (SNP markers, with an average marker density of 0.39 cM/marker, identified a total of 29 genomic regions associated with six grain shape and size traits; ∼80% of these regions were associated with multiple traits. The analyses showed that kernel length (KL and width (KW are genetically independent, while a large number (∼59% of the quantitative trait loci (QTL for kernel shape traits were in common with genomic regions associated with kernel size traits. The most significant QTL was identified on chromosome 4B, and could be an ortholog of major rice grain size and shape gene or . Major and stable loci also were identified on the homeologous regions of Group 5 chromosomes, and in the regions of (6A and (7A genes. Both parental genotypes contributed equivalent positive QTL alleles, suggesting that the nonadapted germplasm has a great potential for enhancing the gene pool for grain shape and size. This study provides new knowledge on the genetic dissection of kernel morphology, with a much higher resolution, which may aid further improvement in wheat yield and quality using genomic tools.

  9. Dissection of Genetic Factors underlying Wheat Kernel Shape and Size in an Elite × Nonadapted Cross using a High Density SNP Linkage Map.

    Science.gov (United States)

    Kumar, Ajay; Mantovani, E E; Seetan, R; Soltani, A; Echeverry-Solarte, M; Jain, S; Simsek, S; Doehlert, D; Alamri, M S; Elias, E M; Kianian, S F; Mergoum, M

    2016-03-01

    Wheat kernel shape and size has been under selection since early domestication. Kernel morphology is a major consideration in wheat breeding, as it impacts grain yield and quality. A population of 160 recombinant inbred lines (RIL), developed using an elite (ND 705) and a nonadapted genotype (PI 414566), was extensively phenotyped in replicated field trials and genotyped using Infinium iSelect 90K assay to gain insight into the genetic architecture of kernel shape and size. A high density genetic map consisting of 10,172 single nucleotide polymorphism (SNP) markers, with an average marker density of 0.39 cM/marker, identified a total of 29 genomic regions associated with six grain shape and size traits; ∼80% of these regions were associated with multiple traits. The analyses showed that kernel length (KL) and width (KW) are genetically independent, while a large number (∼59%) of the quantitative trait loci (QTL) for kernel shape traits were in common with genomic regions associated with kernel size traits. The most significant QTL was identified on chromosome 4B, and could be an ortholog of major rice grain size and shape gene or . Major and stable loci also were identified on the homeologous regions of Group 5 chromosomes, and in the regions of (6A) and (7A) genes. Both parental genotypes contributed equivalent positive QTL alleles, suggesting that the nonadapted germplasm has a great potential for enhancing the gene pool for grain shape and size. This study provides new knowledge on the genetic dissection of kernel morphology, with a much higher resolution, which may aid further improvement in wheat yield and quality using genomic tools. Copyright © 2016 Crop Science Society of America.

  10. Genetic dissection of a cell-autonomous neurodegenerative disorder: lessons learned from mouse models of Niemann-Pick disease type C

    Directory of Open Access Journals (Sweden)

    Manuel E. Lopez

    2013-09-01

    Full Text Available Understanding neurodegenerative disease progression and its treatment requires the systematic characterization and manipulation of relevant cell types and molecular pathways. The neurodegenerative lysosomal storage disorder Niemann-Pick disease type C (NPC is highly amenable to genetic approaches that allow exploration of the disease biology at the organismal, cellular and molecular level. Although NPC is a rare disease, genetic analysis of the associated neuropathology promises to provide insight into the logic of disease neural circuitry, selective neuron vulnerability and neural-glial interactions. The ability to control the disorder cell-autonomously and in naturally occurring spontaneous animal models that recapitulate many aspects of the human disease allows for an unparalleled dissection of the disease neurobiology in vivo. Here, we review progress in mouse-model-based studies of NPC disease, specifically focusing on the subtype that is caused by a deficiency in NPC1, a sterol-binding late endosomal membrane protein involved in lipid trafficking. We also discuss recent findings and future directions in NPC disease research that are pertinent to understanding the cellular and molecular mechanisms underlying neurodegeneration in general.

  11. Dynamics and ethics of comprehensive preimplantation genetic testing: a review of the challenges.

    Science.gov (United States)

    Hens, Kristien; Dondorp, Wybo; Handyside, Alan H; Harper, Joyce; Newson, Ainsley J; Pennings, Guido; Rehmann-Sutter, Christoph; de Wert, Guido

    2013-01-01

    Genetic testing of preimplantation embryos has been used for preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Microarray technology is being introduced in both these contexts, and whole genome sequencing of blastomeres is also expeted to become possible soon. The amount of extra information such tests will yield may prove to be beneficial for embryo selection, will also raise various ethical issues. We present an overview of the developments and an agenda-setting exploration of the ethical issues. The paper is a joint endeavour by the presenters at an explorative 'campus meeting' organized by the European Society of Human Reproduction and Embryology in cooperation with the department of Health, Ethics & Society of the Maastricht University (The Netherlands). The increasing amount and detail of information that new screening techniques such as microarrays and whole genome sequencing offer does not automatically coincide with an increasing understanding of the prospects of an embryo. From a technical point of view, the future of comprehensive embryo testing may go together with developments in preconception carrier screening. From an ethical point of view, the increasing complexity and amount of information yielded by comprehensive testing techniques will lead to challenges to the principle of reproductive autonomy and the right of the child to an open future, and may imply a possible larger responsibility of the clinician towards the welfare of the future child. Combinations of preconception carrier testing and embryo testing may solve some of these ethical questions but could introduce others. As comprehensive testing techniques are entering the IVF clinic, there is a need for a thorough rethinking of traditional ethical paradigms regarding medically assisted reproduction.

  12. Comprehensive preimplantation genetic screening and sperm deoxyribonucleic acid fragmentation from three males carrying balanced chromosome rearrangements.

    Science.gov (United States)

    Ramos, Laia; Daina, Gemma; Del Rey, Javier; Ribas-Maynou, Jordi; Fernández-Encinas, Alba; Martinez-Passarell, Olga; Boada, Montserrat; Benet, Jordi; Navarro, Joaquima

    2015-09-01

    To assess whether preimplantation genetic screening can successfully identify cytogenetically normal embryos in couples carrying balanced chromosome rearrangements in addition to increased sperm DNA fragmentation. Comprehensive preimplantation genetic screening was performed on three couples carrying chromosome rearrangements. Sperm DNA fragmentation was assessed for each patient. Academic center. One couple with the male partner carrying a chromosome 2 pericentric inversion and two couples with the male partners carrying a Robertsonian translocation (13:14 and 14:21, respectively). A single blastomere from each of the 18 cleavage-stage embryos obtained was analysed by metaphase comparative genomic hybridization. Single- and double-strand sperm DNA fragmentation was determined by the alkaline and neutral Comet assays. Single- and double-strand sperm DNA fragmentation values and incidence of chromosome imbalances in the blastomeres were analyzed. The obtained values of single-strand sperm DNA fragmentation were between 47% and 59%, and the double-strand sperm DNA fragmentation values were between 43% and 54%. No euploid embryos were observed in the couple showing the highest single-strand sperm DNA fragmentation. However, euploid embryos were observed in the other two couples: embryo transfer was performed, and pregnancy was achieved by the couple showing the lowest sperm DNA fragmentation values. Preimplantation genetic screening enables the detection of euploid embryos in couples affected by balanced chromosome rearrangements and increased sperm DNA fragmentation. Even though sperm DNA fragmentation may potentially have clinical consequences on fertility, comprehensive preimplantation genetic screening allows for the identification and transfer of euploid embryos. Copyright © 2015. Published by Elsevier Inc.

  13. Genetic Dissection of Sympatric Populations of Brown Planthopper, Nilaparvata lugens (Stål, Using DALP-PCR Molecular Markers

    Directory of Open Access Journals (Sweden)

    M. A. Latif

    2012-01-01

    Full Text Available Direct amplified length polymorphism (DALP combines the advantages of a high-resolution fingerprint method and also characterizing the genetic polymorphisms. This molecular method was also found to be useful in brown planthopper, Nilaparvata lugens species complex for the analysis of genetic polymorphisms. A total of 11 populations of Nilaparvata spp. were collected from 6 locations from Malaysia. Two sympatric populations of brown planthopper, N. lugens, one from rice and the other from a weed grass (Leersia hexandra, were collected from each of five locations. N. bakeri was used as an out group. Three oligonucleotide primer pairs, DALP231/DALPR′5, DALP234/DALPR′5, and DALP235/DALPR′5 were applied in this study. The unweighted pair group method with arithmetic mean (UPGMA dendrogram based on genetic distances for the 11 populations of Nilaparvata spp. revealed that populations belonging to the same species and the same host type clustered together irrespective of their geographical localities of capture. The populations of N. lugens formed into two distinct clusters, one was insects with high esterase activities usually captured from rice and the other was with low esterase activities usually captured from L. hexandra. N. bakeri, an out group, was the most isolated group. Analyses of principal components, molecular variance, and robustness also supported greatly to the findings of cluster analysis.

  14. Genetic Dissection of Sympatric Populations of Brown Planthopper, Nilaparvata lugens (Stål), Using DALP-PCR Molecular Markers

    Science.gov (United States)

    Latif, M. A.; Rafii, M. Y.; Mazid, M. S.; Ali, M. E.; Ahmed, F.; Omar, M. Y.; Tan, S. G.

    2012-01-01

    Direct amplified length polymorphism (DALP) combines the advantages of a high-resolution fingerprint method and also characterizing the genetic polymorphisms. This molecular method was also found to be useful in brown planthopper, Nilaparvata lugens species complex for the analysis of genetic polymorphisms. A total of 11 populations of Nilaparvata spp. were collected from 6 locations from Malaysia. Two sympatric populations of brown planthopper, N. lugens, one from rice and the other from a weed grass (Leersia hexandra), were collected from each of five locations. N. bakeri was used as an out group. Three oligonucleotide primer pairs, DALP231/DALPR′5, DALP234/DALPR′5, and DALP235/DALPR′5 were applied in this study. The unweighted pair group method with arithmetic mean (UPGMA) dendrogram based on genetic distances for the 11 populations of Nilaparvata spp. revealed that populations belonging to the same species and the same host type clustered together irrespective of their geographical localities of capture. The populations of N. lugens formed into two distinct clusters, one was insects with high esterase activities usually captured from rice and the other was with low esterase activities usually captured from L. hexandra. N. bakeri, an out group, was the most isolated group. Analyses of principal components, molecular variance, and robustness also supported greatly to the findings of cluster analysis. PMID:22593700

  15. An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.

    Directory of Open Access Journals (Sweden)

    Tobias Eisenberger

    Full Text Available Renal cysts are clinically and genetically heterogeneous conditions. Autosomal dominant polycystic kidney disease (ADPKD is the most frequent life-threatening genetic disease and mainly caused by mutations in PKD1. The presence of six PKD1 pseudogenes and tremendous allelic heterogeneity make molecular genetic testing challenging requiring laborious locus-specific amplification. Increasing evidence suggests a major role for PKD1 in early and severe cases of ADPKD and some patients with a recessive form. Furthermore it is becoming obvious that clinical manifestations can be mimicked by mutations in a number of other genes with the necessity for broader genetic testing. We established and validated a sequence capture based NGS testing approach for all genes known for cystic and polycystic kidney disease including PKD1. Thereby, we demonstrate that the applied standard mapping algorithm specifically aligns reads to the PKD1 locus and overcomes the complication of unspecific capture of pseudogenes. Employing careful and experienced assessment of NGS data, the method is shown to be very specific and equally sensitive as established methods. An additional advantage over conventional Sanger sequencing is the detection of copy number variations (CNVs. Sophisticated bioinformatic read simulation increased the high analytical depth of the validation study and further demonstrated the strength of the approach. We further raise some awareness of limitations and pitfalls of common NGS workflows when applied in complex regions like PKD1 demonstrating that quality of NGS needs more than high coverage of the target region. By this, we propose a time- and cost-efficient diagnostic strategy for comprehensive molecular genetic testing of polycystic kidney disease which is highly automatable and will be of particular value when therapeutic options for PKD emerge and genetic testing is needed for larger numbers of patients.

  16. An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.

    Science.gov (United States)

    Eisenberger, Tobias; Decker, Christian; Hiersche, Milan; Hamann, Ruben C; Decker, Eva; Neuber, Steffen; Frank, Valeska; Bolz, Hanno J; Fehrenbach, Henry; Pape, Lars; Toenshoff, Burkhard; Mache, Christoph; Latta, Kay; Bergmann, Carsten

    2015-01-01

    Renal cysts are clinically and genetically heterogeneous conditions. Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent life-threatening genetic disease and mainly caused by mutations in PKD1. The presence of six PKD1 pseudogenes and tremendous allelic heterogeneity make molecular genetic testing challenging requiring laborious locus-specific amplification. Increasing evidence suggests a major role for PKD1 in early and severe cases of ADPKD and some patients with a recessive form. Furthermore it is becoming obvious that clinical manifestations can be mimicked by mutations in a number of other genes with the necessity for broader genetic testing. We established and validated a sequence capture based NGS testing approach for all genes known for cystic and polycystic kidney disease including PKD1. Thereby, we demonstrate that the applied standard mapping algorithm specifically aligns reads to the PKD1 locus and overcomes the complication of unspecific capture of pseudogenes. Employing careful and experienced assessment of NGS data, the method is shown to be very specific and equally sensitive as established methods. An additional advantage over conventional Sanger sequencing is the detection of copy number variations (CNVs). Sophisticated bioinformatic read simulation increased the high analytical depth of the validation study and further demonstrated the strength of the approach. We further raise some awareness of limitations and pitfalls of common NGS workflows when applied in complex regions like PKD1 demonstrating that quality of NGS needs more than high coverage of the target region. By this, we propose a time- and cost-efficient diagnostic strategy for comprehensive molecular genetic testing of polycystic kidney disease which is highly automatable and will be of particular value when therapeutic options for PKD emerge and genetic testing is needed for larger numbers of patients.

  17. Recommendations for Genetic Variation Data Capture in Developing Countries to Ensure a Comprehensive Worldwide Data Collection

    Science.gov (United States)

    Patrinos, George P; Al Aama, Jumana; Al Aqeel, Aida; Al-Mulla, Fahd; Borg, Joseph; Devereux, Andrew; Felice, Alex E; Macrae, Finlay; Marafie, Makia J; Petersen, Michael B; Qi, Ming; Ramesar, Rajkumar S; Zlotogora, Joel; Cotton, Richard GH

    2011-01-01

    Developing countries have significantly contributed to the elucidation of the genetic basis of both common and rare disorders, providing an invaluable resource of cases due to large family sizes, consanguinity, and potential founder effects. Moreover, the recognized depth of genomic variation in indigenous African populations, reflecting the ancient origins of humanity on the African continent, and the effect of selection pressures on the genome, will be valuable in understanding the range of both pathological and nonpathological variations. The involvement of these populations in accurately documenting the extant genetic heterogeneity is more than essential. Developing nations are regarded as key contributors to the Human Variome Project (HVP; http://www.humanvariomeproject.org), a major effort to systematically collect mutations that contribute to or cause human disease and create a cyber infrastructure to tie databases together. However, biomedical research has not been the primary focus in these countries even though such activities are likely to produce economic and health benefits for all. Here, we propose several recommendations and guidelines to facilitate participation of developing countries in genetic variation data documentation, ensuring an accurate and comprehensive worldwide data collection. We also summarize a few well-coordinated genetic data collection initiatives that would serve as paradigms for similar projects. Hum Mutat 31:1–8, 2010. © 2010 Wiley-Liss, Inc. PMID:21089065

  18. Genetic dissection of maize plant architecture with an ultra-high density bin map based on recombinant inbred lines.

    Science.gov (United States)

    Zhou, Zhiqiang; Zhang, Chaoshu; Zhou, Yu; Hao, Zhuanfang; Wang, Zhenhua; Zeng, Xing; Di, Hong; Li, Mingshun; Zhang, Degui; Yong, Hongjun; Zhang, Shihuang; Weng, Jianfeng; Li, Xinhai

    2016-03-03

    Plant architecture attributes, such as plant height, ear height, and internode number, have played an important role in the historical increases in grain yield, lodging resistance, and biomass in maize (Zea mays L.). Analyzing the genetic basis of variation in plant architecture using high density QTL mapping will be of benefit for the breeding of maize for many traits. However, the low density of molecular markers in existing genetic maps has limited the efficiency and accuracy of QTL mapping. Genotyping by sequencing (GBS) is an improved strategy for addressing a complex genome via next-generation sequencing technology. GBS has been a powerful tool for SNP discovery and high-density genetic map construction. The creation of ultra-high density genetic maps using large populations of advanced recombinant inbred lines (RILs) is an efficient way to identify QTL for complex agronomic traits. A set of 314 RILs derived from inbreds Ye478 and Qi319 were generated and subjected to GBS. A total of 137,699,000 reads with an average of 357,376 reads per individual RIL were generated, which is equivalent to approximately 0.07-fold coverage of the maize B73 RefGen_V3 genome for each individual RIL. A high-density genetic map was constructed using 4183 bin markers (100-Kb intervals with no recombination events). The total genetic distance covered by the linkage map was 1545.65 cM and the average distance between adjacent markers was 0.37 cM with a physical distance of about 0.51 Mb. Our results demonstrated a relatively high degree of collinearity between the genetic map and the B73 reference genome. The quality and accuracy of the bin map for QTL detection was verified by the mapping of a known gene, pericarp color 1 (P1), which controls the color of the cob, with a high LOD value of 80.78 on chromosome 1. Using this high-density bin map, 35 QTL affecting plant architecture, including 14 for plant height, 14 for ear height, and seven for internode number were detected

  19. Genetic dissection of powdery mildew resistance in interspecific half-sib grapevine families using SNP-based maps.

    Science.gov (United States)

    Teh, Soon Li; Fresnedo-Ramírez, Jonathan; Clark, Matthew D; Gadoury, David M; Sun, Qi; Cadle-Davidson, Lance; Luby, James J

    2017-01-01

    Quantitative trait locus (QTL) identification in perennial fruit crops is impeded largely by their lengthy generation time, resulting in costly and labor-intensive maintenance of breeding programs. In a grapevine (genus Vitis ) breeding program, although experimental families are typically unreplicated, the genetic backgrounds may contain similar progenitors previously selected due to their contribution of favorable alleles. In this study, we investigated the utility of joint QTL identification provided by analyzing half-sib families. The genetic control of powdery mildew was studied using two half-sib F 1 families, namely GE0711/1009 (MN1264 × MN1214; N  = 147) and GE1025 (MN1264 × MN1246; N  = 125) with multiple species in their ancestry. Maternal genetic maps consisting of 1077 and 1641 single nucleotide polymorphism (SNP) markers, respectively, were constructed using a pseudo-testcross strategy. Ratings of field resistance to powdery mildew were obtained based on whole-plant evaluation of disease severity. This 2-year analysis uncovered two QTLs that were validated on a consensus map in these half-sib families with improved precision relative to the parental maps. Examination of haplotype combinations based on the two QTL regions identified strong association of haplotypes inherited from 'Seyval blanc', through MN1264, with powdery mildew resistance. This investigation also encompassed the use of microsatellite markers to establish a correlation between 206-bp (UDV-015b) and 357-bp (VViv67) fragment sizes with resistance-carrying haplotypes. Our work is one of the first reports in grapevine demonstrating the use of SNP-based maps and haplotypes for QTL identification and tagging of powdery mildew resistance in half-sib families.

  20. Metabolome-genome-wide association study dissects genetic architecture for generating natural variation in rice secondary metabolism

    Science.gov (United States)

    Matsuda, Fumio; Nakabayashi, Ryo; Yang, Zhigang; Okazaki, Yozo; Yonemaru, Jun-ichi; Ebana, Kaworu; Yano, Masahiro; Saito, Kazuki

    2015-01-01

    Plants produce structurally diverse secondary (specialized) metabolites to increase their fitness for survival under adverse environments. Several bioactive compounds for new drugs have been identified through screening of plant extracts. In this study, genome-wide association studies (GWAS) were conducted to investigate the genetic architecture behind the natural variation of rice secondary metabolites. GWAS using the metabolome data of 175 rice accessions successfully identified 323 associations among 143 single nucleotide polymorphisms (SNPs) and 89 metabolites. The data analysis highlighted that levels of many metabolites are tightly associated with a small number of strong quantitative trait loci (QTLs). The tight association may be a mechanism generating strains with distinct metabolic composition through the crossing of two different strains. The results indicate that one plant species produces more diverse phytochemicals than previously expected, and plants still contain many useful compounds for human applications. PMID:25267402

  1. Dissecting Biological Dark Matter: Single Cell Genetic Analysis of TM7, a Rare and Uncultivated Microbe from the Human Mouth

    Energy Technology Data Exchange (ETDEWEB)

    Fenner, Marsha W; Marcy, Yann; Ouverney, Cleber; Bik, Elisabeth M.; Losekann, Tina; Ivanova, Natalia; Martin, H. Garcia; Szeto, E.; Platt, Darren; Hugenholtz, Philip; Relman, David A.; Quake, Stephen R.

    2007-07-01

    We have developed a microfluidic device that allows the isolation and genome amplification of individual microbial cells, thereby enabling organism-level genomic analysis of complex microbial ecosystems without the need for culture. This device was used to perform a directed survey of the human subgingival crevice and to isolate bacteria having rod-like morphology. Several isolated microbes had a 16S rRNA sequence that placed them in candidate phylum TM7, which has no cultivated or sequenced members. Genome amplification from individual TM7 cells allowed us to sequence and assemble >1,000 genes, providing insight into the physiology of members of this phylum. This approach enables single-cell genetic analysis of any uncultivated minority member of a microbial community.

  2. Genetic Dissection of Bioenergy-Related Traits in Sweet Sorghum (Sorghum bicolor) under Danish Agro-Climatic Conditions

    DEFF Research Database (Denmark)

    Mocoeur, Anne Raymonde Joelle

    Sorghum (Sorghum bicolor (L.) Moench), a C4 African originated grass, ranks 5th most important crop worldwide, feeding over 500 million people in tropical regions as it withstands a wide panel of biotic and abiotic stresses. The small and simple diploid genome of sorghum was elected as the third...... plant for sequencing in 2009 promoting it as a C4 model plant. Among the very diverse genetic resources available for sorghum, sweet sorghum plants; amassing large quantities of juice-rich and sugar-rich stem, grain and vegetative biomass; have been enlightened as bioenergy crop as it can produced from...... a single plant food, feed and fuel. Sweet sorghum has gained interest in Europe to replace maize, for biogas and bioenergy productions, but this versatile crop is sensitive to chilling temperatures and little breeding efforts have been done toward its cold acclimation. The state-of-art of using...

  3. Genetic dissection of milk yield traits and mastitis resistance quantitative trait loci on chromosome 20 in dairy cattle.

    Science.gov (United States)

    Kadri, Naveen K; Guldbrandtsen, Bernt; Lund, Mogens S; Sahana, Goutam

    2015-12-01

    Intense selection to increase milk yield has had negative consequences for mastitis incidence in dairy cattle. Due to low heritability of mastitis resistance and an unfavorable genetic correlation with milk yield, a reduction in mastitis through traditional breeding has been difficult to achieve. Here, we examined quantitative trait loci (QTL) that segregate for clinical mastitis and milk yield on Bos taurus autosome 20 (BTA20) to determine whether both traits are affected by a single polymorphism (pleiotropy) or by multiple closely linked polymorphisms. In the latter but not the former situation, undesirable genetic correlation could potentially be broken by selecting animals that have favorable variants for both traits. First, we performed a within-breed association study using a haplotype-based method in Danish Holstein cattle (HOL). Next, we analyzed Nordic Red dairy cattle (RDC) and Danish Jersey cattle (JER) with the goal of determining whether these QTL identified in Holsteins were segregating across breeds. Genotypes for 12,566 animals (5,966 HOL, 5,458 RDC, and 1,142 JER) were determined by using the Illumina Bovine SNP50 BeadChip (50K; Illumina, San Diego, CA), which identifies 1,568 single nucleotide polymorphisms on BTA20. Data were combined, phased, and clustered into haplotype states, followed by within- and across-breed haplotype-based association analyses using a linear mixed model. Association signals for both clinical mastitis and milk yield peaked in the 26- to 40-Mb region on BTA20 in HOL. Single-variant association analyses were carried out in the QTL region using whole sequence level variants imputed from references of 2,036 HD genotypes (BovineHD BeadChip; Illumina) and 242 whole-genome sequences. The milk QTL were also segregating in RDC and JER on the BTA20-targeted region; however, an indication of differences in the causal factor(s) was observed across breeds. A previously reported F279Y mutation (rs385640152) within the growth hormone

  4. Genetic dissection of the Arabidopsis spaceflight transcriptome: Are some responses dispensable for the physiological adaptation of plants to spaceflight?

    Directory of Open Access Journals (Sweden)

    Anna-Lisa Paul

    Full Text Available Experimentation on the International Space Station has reached the stage where repeated and nuanced transcriptome studies are beginning to illuminate the structural and metabolic differences between plants grown in space compared to plants on the Earth. Genes that are important in establishing the spaceflight responses are being identified, their roles in spaceflight physiological adaptation are increasingly understood, and the fact that different genotypes adapt differently is recognized. However, the basic question of whether these spaceflight responses are actually required for survival has yet to be posed, and the fundamental notion that spaceflight responses may be non-adaptive has yet to be explored. Therefore the experiments presented here were designed to ask if portions of the plant spaceflight response can be genetically removed without causing loss of spaceflight survival and without causing increased stress responses. The CARA experiment compared the spaceflight transcriptome responses in the root tips of two Arabidopsis ecotypes, Col-0 and WS, as well as that of a PhyD mutant of Col-0. When grown with the ambient light of the ISS, phyD plants displayed a significantly reduced spaceflight transcriptome response compared to Col-0, suggesting that altering the activity of a single gene can actually improve spaceflight adaptation by reducing the transcriptome cost of physiological adaptation. The WS genotype showed an even simpler spaceflight transcriptome response in the ambient light of the ISS, more broadly indicating that the plant genotype can be manipulated to reduce the cost of spaceflight adaptation, as measured by transcriptional response. These differential genotypic responses suggest that genetic manipulation could further reduce, or perhaps eliminate the metabolic cost of spaceflight adaptation. When plants were germinated and then left in the dark on the ISS, the WS genotype actually mounted a larger transcriptome response

  5. A High Precision Comprehensive Evaluation Method for Flood Disaster Loss Based on Improved Genetic Programming

    Institute of Scientific and Technical Information of China (English)

    ZHOU Yuliang; LU Guihua; JIN Juliang; TONG Fang; ZHOU Ping

    2006-01-01

    Precise comprehensive evaluation of flood disaster loss is significant for the prevention and mitigation of flood disasters. Here, one of the difficulties involved is how to establish a model capable of describing the complex relation between the input and output data of the system of flood disaster loss. Genetic programming (GP) solves problems by using ideas from genetic algorithm and generates computer programs automatically. In this study a new method named the evaluation of the grade of flood disaster loss (EGFD) on the basis of improved genetic programming (IGP) is presented (IGPEGFD). The flood disaster area and the direct economic loss are taken as the evaluation indexes of flood disaster loss. Obviously that the larger the evaluation index value, the larger the corresponding value of the grade of flood disaster loss is. Consequently the IGP code is designed to make the value of the grade of flood disaster be an increasing function of the index value. The result of the application of the IGP-EGFD model to Henan Province shows that a good function expression can be obtained within a bigger searched function space; and the model is of high precision and considerable practical significance.Thus, IGP-EGFD can be widely used in automatic modeling and other evaluation systems.

  6. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

    Directory of Open Access Journals (Sweden)

    Masakazu Kohda

    2016-01-01

    Full Text Available Mitochondrial disorders have the highest incidence among congenital metabolic disorders characterized by biochemical respiratory chain complex deficiencies. It occurs at a rate of 1 in 5,000 births, and has phenotypic and genetic heterogeneity. Mutations in about 1,500 nuclear encoded mitochondrial proteins may cause mitochondrial dysfunction of energy production and mitochondrial disorders. More than 250 genes that cause mitochondrial disorders have been reported to date. However exact genetic diagnosis for patients still remained largely unknown. To reveal this heterogeneity, we performed comprehensive genomic analyses for 142 patients with childhood-onset mitochondrial respiratory chain complex deficiencies. The approach includes whole mtDNA and exome analyses using high-throughput sequencing, and chromosomal aberration analyses using high-density oligonucleotide arrays. We identified 37 novel mutations in known mitochondrial disease genes and 3 mitochondria-related genes (MRPS23, QRSL1, and PNPLA4 as novel causative genes. We also identified 2 genes known to cause monogenic diseases (MECP2 and TNNI3 and 3 chromosomal aberrations (6q24.3-q25.1, 17p12, and 22q11.21 as causes in this cohort. Our approaches enhance the ability to identify pathogenic gene mutations in patients with biochemically defined mitochondrial respiratory chain complex deficiencies in clinical settings. They also underscore clinical and genetic heterogeneity and will improve patient care of this complex disorder.

  7. Phenotypic evaluation and genetic dissection of resistance to Phytophthora sojae in the Chinese soybean mini core collection.

    Science.gov (United States)

    Huang, Jing; Guo, Na; Li, Yinghui; Sun, Jutao; Hu, Guanjun; Zhang, Haipeng; Li, Yanfei; Zhang, Xing; Zhao, Jinming; Xing, Han; Qiu, Lijuan

    2016-06-18

    Phytophthora root and stem rot (PRR) caused by Phytophthora sojae is one of the most serious diseases affecting soybean (Glycine max (L.) Merr.) production all over the world. The most economical and environmentally-friendly way to control the disease is the exploration and utilization of resistant varieties. We screened a soybean mini core collection composed of 224 germplasm accessions for resistance against eleven P. sojae isolates. Soybean accessions from the Southern and Huanghuai regions, especially the Hubei, Jiangsu, Sichuan and Fujian provinces, had the most varied and broadest spectrum of resistance. Based on gene postulation, Rps1b, Rps1c, Rps4, Rps7 and novel resistance genes were identified in resistant accessions. Consequently, association mapping of resistance to each isolate was performed with 1,645 single nucleotide polymorphism (SNP) markers. A total of 14 marker-trait associations for Phytophthora resistance were identified. Among them, four were located in known PRR resistance loci intervals, five were located in other disease resistance quantitative trait locus (QTL) regions, and five associations unmasked novel loci for PRR resistance. In addition, we also identified candidate genes related to resistance. This is the first P. sojae resistance evaluation conducted using the Chinese soybean mini core collection, which is a representative sample of Chinese soybean cultivars. The resistance reaction analyses provided an excellent database of resistant resources and genetic variations for future breeding programs. The SNP markers associated with resistance will facilitate marker-assisted selection (MAS) in breeding programs for resistance to PRR, and the candidate genes may be useful for exploring the mechanism underlying P. sojae resistance.

  8. A Chromosome Segment Substitution Library of Weedy Rice for Genetic Dissection of Complex Agronomic and Domestication Traits.

    Directory of Open Access Journals (Sweden)

    Prasanta K Subudhi

    Full Text Available Chromosome segment substitution lines (CSSLs are a powerful alternative for locating quantitative trait loci (QTL, analyzing gene interactions, and providing starting materials for map-based cloning projects. We report the development and characterization of a CSSL library of a U.S. weedy rice accession 'PSRR-1' with genome-wide coverage in an adapted rice cultivar 'Bengal' background. The majority of the CSSLs carried a single defined weedy rice segment with an average introgression segment of 2.8 % of the donor genome. QTL mapping results for several agronomic and domestication traits from the CSSL population were compared with those obtained from two recombinant inbred line (RIL populations involving the same weedy rice accession. There was congruence of major effect QTLs between both types of populations, but new and additional QTLs were detected in the CSSL population. Although, three major effect QTLs for plant height were detected on chromosomes 1, 4, and 8 in the CSSL population, the latter two escaped detection in both RIL populations. Since this was observed for many traits, epistasis may play a major role for the phenotypic variation observed in weedy rice. High levels of shattering and seed dormancy in weedy rice might result from an accumulation of many small effect QTLs. Several CSSLs with desirable agronomic traits (e.g. longer panicles, longer grains, and higher seed weight identified in this study could be useful for rice breeding. Since weedy rice is a reservoir of genes for many weedy and agronomic attributes, the CSSL library will serve as a valuable resource to discover latent genetic diversity for improving crop productivity and understanding the plant domestication process through cloning and characterization of the underlying genes.

  9. Genetic Dissection of Dual Roles for the Transcription Factor six7 in Photoreceptor Development and Patterning in Zebrafish.

    Directory of Open Access Journals (Sweden)

    Mailin Sotolongo-Lopez

    2016-04-01

    Full Text Available The visual system of a particular species is highly adapted to convey detailed ecological and behavioral information essential for survival. The consequences of structural mutations of opsins upon spectral sensitivity and environmental adaptation have been studied in great detail, but lacking is knowledge of the potential influence of alterations in gene regulatory networks upon the diversity of cone subtypes and the variation in the ratio of rods and cones observed in numerous diurnal and nocturnal species. Exploiting photoreceptor patterning in cone-dominated zebrafish, we uncovered two independent mechanisms by which the sine oculis homeobox homolog 7 (six7 regulates photoreceptor development. In a genetic screen, we isolated the lots-of-rods-junior (ljrp23ahub mutation that resulted in an increased number and uniform distribution of rods in otherwise normal appearing larvae. Sequence analysis, genome editing using TALENs and knockdown strategies confirm ljrp23ahub as a hypomorphic allele of six7, a teleost orthologue of six3, with known roles in forebrain patterning and expression of opsins. Based on the lack of predicted protein-coding changes and a deletion of a conserved element upstream of the transcription start site, a cis-regulatory mutation is proposed as the basis of the reduced expression of six7 in ljrp23ahub. Comparison of the phenotypes of the hypomorphic and knock-out alleles provides evidence of two independent roles in photoreceptor development. EdU and PH3 labeling show that the increase in rod number is associated with extended mitosis of photoreceptor progenitors, and TUNEL suggests that the lack of green-sensitive cones is the result of cell death of the cone precursor. These data add six7 to the small but growing list of essential genes for specification and patterning of photoreceptors in non-mammalian vertebrates, and highlight alterations in transcriptional regulation as a potential source of photoreceptor variation

  10. Aortic dissection

    Science.gov (United States)

    ... Connective tissue disorders (such as Marfan syndrome and Ehlers-Danlos syndrome) and rare genetic disorders Heart surgery or procedures ... If you have been diagnosed with Marfan or Ehlers-Danlos syndrome, making sure you regularly follow-up with your ...

  11. Comprehensive allelotype and genetic anaysis of 466 human nervous system tumors

    DEFF Research Database (Denmark)

    von Deimling, A; Fimmers, R; Schmidt, M C

    2000-01-01

    Brain tumors pose a particular challenge to molecular oncology. Many different tumor entities develop in the nervous system and some of them appear to follow distinct pathogenic routes. Molecular genetic alterations have increasingly been reported in nervous system neoplasms. However......, a considerable number of affected genes remain to be identified. We present here a comprehensive allelotype analysis of 466 nervous system tumors based on loss of heterozygosity (LOH) studies with 129 microsatellite markers that span the genome. Specific alterations of the EGFR, CDK4, CDKN2A, TP53, DMBT1, NF2...... may provide a valuable framework for future studies to delineate molecular pathways in many types of human central nervous system tumors....

  12. Systems Level Dissection of Anaerobic Methane Cycling: Quantitative Measurements of Single Cell Ecophysiology, Genetic Mechanisms, and Microbial Interactions

    Energy Technology Data Exchange (ETDEWEB)

    Orphan, Victoria [California Inst. of Technology (CalTech), Pasadena, CA (United States); Tyson, Gene [University of Queensland, Brisbane Australia; Meile, Christof [University of Georgia, Athens, Georgia; McGlynn, Shawn [California Inst. of Technology (CalTech), Pasadena, CA (United States); Yu, Hang [California Inst. of Technology (CalTech), Pasadena, CA (United States); Chadwick, Grayson [California Inst. of Technology (CalTech), Pasadena, CA (United States); Marlow, Jeffrey [California Inst. of Technology (CalTech), Pasadena, CA (United States); Trembath-Reichert, Elizabeth [California Inst. of Technology (CalTech), Pasadena, CA (United States); Dekas, Anne [California Inst. of Technology (CalTech), Pasadena, CA (United States); Hettich, Robert [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Pan, Chongle [Oak Ridge National Lab. (ORNL), Oak Ridge, TN (United States); Ellisman, Mark [University of California San Diego; Hatzenpichler, Roland [California Inst. of Technology (CalTech), Pasadena, CA (United States); Skennerton, Connor [California Inst. of Technology (CalTech), Pasadena, CA (United States); Scheller, Silvan [California Inst. of Technology (CalTech), Pasadena, CA (United States)

    2017-12-25

    The global biological CH4 cycle is largely controlled through coordinated and often intimate microbial interactions between archaea and bacteria, the majority of which are still unknown or have been only cursorily identified. Members of the methanotrophic archaea, aka ‘ANME’, are believed to play a major role in the cycling of methane in anoxic environments coupled to sulfate, nitrate, and possibly iron and manganese oxides, frequently forming diverse physical and metabolic partnerships with a range of bacteria. The thermodynamic challenges overcome by the ANME and their bacterial partners and corresponding slow rates of growth are common characteristics in anaerobic ecosystems, and, in stark contrast to most cultured microorganisms, this type of energy and resource limited microbial lifestyle is likely the norm in the environment. While we have gained an in-depth systems level understanding of fast-growing, energy-replete microorganisms, comparatively little is known about the dynamics of cell respiration, growth, protein turnover, gene expression, and energy storage in the slow-growing microbial majority. These fundamental properties, combined with the observed metabolic and symbiotic versatility of methanotrophic ANME, make these cooperative microbial systems a relevant (albeit challenging) system to study and for which to develop and optimize culture-independent methodologies, which enable a systems-level understanding of microbial interactions and metabolic networks. We used an integrative systems biology approach to study anaerobic sediment microcosms and methane-oxidizing bioreactors and expanded our understanding of the methanotrophic ANME archaea, their interactions with physically-associated bacteria, ecophysiological characteristics, and underlying genetic basis for cooperative microbial methane-oxidation linked with different terminal electron acceptors. Our approach is inherently multi-disciplinary and multi-scaled, combining transcriptional and

  13. Genetic dissection of the maize kernel development process via conditional QTL mapping for three developing kernel-related traits in an immortalized F2 population.

    Science.gov (United States)

    Zhang, Zhanhui; Wu, Xiangyuan; Shi, Chaonan; Wang, Rongna; Li, Shengfei; Wang, Zhaohui; Liu, Zonghua; Xue, Yadong; Tang, Guiliang; Tang, Jihua

    2016-02-01

    Kernel development is an important dynamic trait that determines the final grain yield in maize. To dissect the genetic basis of maize kernel development process, a conditional quantitative trait locus (QTL) analysis was conducted using an immortalized F2 (IF2) population comprising 243 single crosses at two locations over 2 years. Volume (KV) and density (KD) of dried developing kernels, together with kernel weight (KW) at different developmental stages, were used to describe dynamic changes during kernel development. Phenotypic analysis revealed that final KW and KD were determined at DAP22 and KV at DAP29. Unconditional QTL mapping for KW, KV and KD uncovered 97 QTLs at different kernel development stages, of which qKW6b, qKW7a, qKW7b, qKW10b, qKW10c, qKV10a, qKV10b and qKV7 were identified under multiple kernel developmental stages and environments. Among the 26 QTLs detected by conditional QTL mapping, conqKW7a, conqKV7a, conqKV10a, conqKD2, conqKD7 and conqKD8a were conserved between the two mapping methodologies. Furthermore, most of these QTLs were consistent with QTLs and genes for kernel development/grain filling reported in previous studies. These QTLs probably contain major genes associated with the kernel development process, and can be used to improve grain yield and quality through marker-assisted selection.

  14. A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

    Science.gov (United States)

    Morgan, Sarah; Shatunov, Aleksey; Sproviero, William; Jones, Ashley R; Shoai, Maryam; Hughes, Deborah; Al Khleifat, Ahmad; Malaspina, Andrea; Morrison, Karen E; Shaw, Pamela J; Shaw, Christopher E; Sidle, Katie; Orrell, Richard W; Fratta, Pietro; Hardy, John; Pittman, Alan; Al-Chalabi, Ammar

    2017-06-01

    Amyotrophic lateral sclerosis is a progressive neurodegenerative disease of motor neurons. About 25 genes have been verified as relevant to the disease process, with rare and common variation implicated. We used next generation sequencing and repeat sizing to comprehensively assay genetic variation in a panel of known amyotrophic lateral sclerosis genes in 1126 patient samples and 613 controls. About 10% of patients were predicted to carry a pathological expansion of the C9orf72 gene. We found an increased burden of rare variants in patients within the untranslated regions of known disease-causing genes, driven by SOD1, TARDBP, FUS, VCP, OPTN and UBQLN2. We found 11 patients (1%) carried more than one pathogenic variant (P = 0.001) consistent with an oligogenic basis of amyotrophic lateral sclerosis. These findings show that the genetic architecture of amyotrophic lateral sclerosis is complex and that variation in the regulatory regions of associated genes may be important in disease pathogenesis. © The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain.

  15. Mobile Genome Express (MGE: A comprehensive automatic genetic analyses pipeline with a mobile device.

    Directory of Open Access Journals (Sweden)

    Jun-Hee Yoon

    Full Text Available The development of next-generation sequencing (NGS technology allows to sequence whole exomes or genome. However, data analysis is still the biggest bottleneck for its wide implementation. Most laboratories still depend on manual procedures for data handling and analyses, which translates into a delay and decreased efficiency in the delivery of NGS results to doctors and patients. Thus, there is high demand for developing an automatic and an easy-to-use NGS data analyses system. We developed comprehensive, automatic genetic analyses controller named Mobile Genome Express (MGE that works in smartphones or other mobile devices. MGE can handle all the steps for genetic analyses, such as: sample information submission, sequencing run quality check from the sequencer, secured data transfer and results review. We sequenced an Actrometrix control DNA containing multiple proven human mutations using a targeted sequencing panel, and the whole analysis was managed by MGE, and its data reviewing program called ELECTRO. All steps were processed automatically except for the final sequencing review procedure with ELECTRO to confirm mutations. The data analysis process was completed within several hours. We confirmed the mutations that we have identified were consistent with our previous results obtained by using multi-step, manual pipelines.

  16. Mobile Genome Express (MGE): A comprehensive automatic genetic analyses pipeline with a mobile device.

    Science.gov (United States)

    Yoon, Jun-Hee; Kim, Thomas W; Mendez, Pedro; Jablons, David M; Kim, Il-Jin

    2017-01-01

    The development of next-generation sequencing (NGS) technology allows to sequence whole exomes or genome. However, data analysis is still the biggest bottleneck for its wide implementation. Most laboratories still depend on manual procedures for data handling and analyses, which translates into a delay and decreased efficiency in the delivery of NGS results to doctors and patients. Thus, there is high demand for developing an automatic and an easy-to-use NGS data analyses system. We developed comprehensive, automatic genetic analyses controller named Mobile Genome Express (MGE) that works in smartphones or other mobile devices. MGE can handle all the steps for genetic analyses, such as: sample information submission, sequencing run quality check from the sequencer, secured data transfer and results review. We sequenced an Actrometrix control DNA containing multiple proven human mutations using a targeted sequencing panel, and the whole analysis was managed by MGE, and its data reviewing program called ELECTRO. All steps were processed automatically except for the final sequencing review procedure with ELECTRO to confirm mutations. The data analysis process was completed within several hours. We confirmed the mutations that we have identified were consistent with our previous results obtained by using multi-step, manual pipelines.

  17. Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.

    Directory of Open Access Journals (Sweden)

    Christina M Lill

    Full Text Available More than 800 published genetic association studies have implicated dozens of potential risk loci in Parkinson's disease (PD. To facilitate the interpretation of these findings, we have created a dedicated online resource, PDGene, that comprehensively collects and meta-analyzes all published studies in the field. A systematic literature screen of -27,000 articles yielded 828 eligible articles from which relevant data were extracted. In addition, individual-level data from three publicly available genome-wide association studies (GWAS were obtained and subjected to genotype imputation and analysis. Overall, we performed meta-analyses on more than seven million polymorphisms originating either from GWAS datasets and/or from smaller scale PD association studies. Meta-analyses on 147 SNPs were supplemented by unpublished GWAS data from up to 16,452 PD cases and 48,810 controls. Eleven loci showed genome-wide significant (P < 5 × 10(-8 association with disease risk: BST1, CCDC62/HIP1R, DGKQ/GAK, GBA, LRRK2, MAPT, MCCC1/LAMP3, PARK16, SNCA, STK39, and SYT11/RAB25. In addition, we identified novel evidence for genome-wide significant association with a polymorphism in ITGA8 (rs7077361, OR 0.88, P  =  1.3 × 10(-8. All meta-analysis results are freely available on a dedicated online database (www.pdgene.org, which is cross-linked with a customized track on the UCSC Genome Browser. Our study provides an exhaustive and up-to-date summary of the status of PD genetics research that can be readily scaled to include the results of future large-scale genetics projects, including next-generation sequencing studies.

  18. Comprehension and Data-Sharing Behavior of Direct-To-Consumer Genetic Test Customers.

    Science.gov (United States)

    McGrath, Scott P; Coleman, Jason; Najjar, Lotfollah; Fruhling, Ann; Bastola, Dhundy R

    2016-01-01

    The aim of this study was to evaluate current direct-to-consumer (DTC) genetic customers' ability to interpret and comprehend test results and to determine if honest brokers are needed. One hundred and twenty-two customers of the DTC genetic testing company 23andMe were polled in an online survey. The subjects were asked about their personal test results and to interpret the results of two mock test cases (type 2 diabetes and multiple sclerosis), where results were translated into disease probability for an individual compared to the public. When asked to evaluate the risk, 72.1% correctly assessed the first case and 77% were correct on the second case. Only 23.8% of those surveyed were able to interpret both cases correctly. x03C7;2 and logistic regression were used to interpret the results. Participants who took the time to read the DTC test-provided supplemental material were 3.93 times (p = 0.040) more likely to correctly interpret the test results than those who did not. The odds for correctly interpreting the test cases were 3.289 times (p = 0.011) higher for those who made more than USD 50,000 than those who made less. Survey results were compared to the Health Information National Trends Survey (HINTS) phase 4 cycle 3 data to evaluate national trends. Most of the subjects were able to correctly interpret the test cases, yet a majority did not share their results with a health-care professional. As the market for DTC genetic testing grows, test comprehension will become more critical. Involving more health professionals in this process may be necessary to ensure proper interpretations. © 2016 S. Karger AG, Basel.

  19. The Problems of Dissection.

    Science.gov (United States)

    Davis, Pat

    1997-01-01

    Describes some problems of classroom dissection including the cruelty that animals destined for the laboratory suffer. Discusses the multilevel approach that the National Anti-Vivisection Society (NAVS) has developed to address the problems of animal dissection such as offering a dissection hotline, exhibiting at science teacher conferences, and…

  20. Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.

    Science.gov (United States)

    Woon, See-Tarn; Ameratunga, Rohan

    2016-01-01

    New Zealand is a developed geographically isolated country in the South Pacific with a population of 4.4 million. Genetic diagnosis is the standard of care for most patients with primary immunodeficiency disorders (PIDs). Since 2005, we have offered a comprehensive genetic testing service for PIDs and other immune-related disorders with a published sequence. Here we present results for this program, over the first decade, between 2005 and 2014. We undertook testing in 228 index cases and 32 carriers during this time. The three most common test requests were for X-linked lymphoproliferative (XLP), tumour necrosis factor receptor associated periodic syndrome (TRAPS) and haemophagocytic lymphohistiocytosis (HLH). Of the 32 suspected XLP cases, positive diagnoses were established in only 2 patients. In contrast, genetic defects in 8 of 11 patients with suspected X-linked agammaglobulinemia (XLA) were confirmed. Most XLA patients were initially identified from absence of B cells. Overall, positive diagnoses were made in about 23% of all tests requested. The diagnostic rate was lowest for several conditions with locus heterogeneity. Thorough clinical characterisation of patients can assist in prioritising which genes should be tested. The clinician-driven customised comprehensive genetic service has worked effectively for New Zealand. Next generation sequencing will play an increasing role in disorders with locus heterogeneity.

  1. Cervical artery dissection following a turbulent flight.

    LENUS (Irish Health Repository)

    Quinn, Colin

    2012-01-31

    BACKGROUND: Cervical artery dissection is a common cause of stroke in young patients without vascular risk factors and may affect the carotid or vertebral arteries. The risk of spontaneous dissection is higher in those with genetic predisposing factors while other cases may be precipitated by an event involving head or neck movement or associated with direct neck trauma. CASE REPORT: We present the case of a previously well young woman with a history of migraine who developed internal carotid artery dissection following a turbulent short-haul commercial flight while restrained using a seatbelt. DISCUSSION: We propose that repetitive flexion-hyperextension neck movements encountered during the flight were the most likely precipitant of carotid artery dissection in this case and review the therapeutic options available.

  2. Phenotypic Dissection of Bone Mineral Density Reveals Skeletal Site Specificity and Facilitates the Identification of Novel Loci in the Genetic Regulation of Bone Mass Attainment

    NARCIS (Netherlands)

    J.P. Kemp (John); M.C. Medina-Gomez (Carolina); K. Estrada Gil (Karol); B. St Pourcain (Beate); D.H.M. Heppe (Denise); N.M. Warrington (Nicole); L. Oei (Ling); S.M. Ring (Susan); C.J. Kruithof (Claudia); N.J. Timpson (Nicholas); L.E. Wolber (Lisa); S. Reppe (Sjur); K.M. Gautvik (Kaare); E. Grundberg (Elin); B. Ge (Bing); B.C.J. van der Eerden (Bram); J. van de Peppel (Jeroen); M.A. Hibbs (Matthew); C.L. Ackert-Bicknell (Cheryl); K. Choi (Kunho); D.L. Koller (Daniel); M.J. Econs (Michael); F.M. Williams (Frances); T. Foroud (Tatiana); M.C. Zillikens (Carola); C. Ohlsson (Claes); A. Hofman (Albert); A.G. Uitterlinden (André); G. Davey-Smith (George); V.W.V. Jaddoe (Vincent); J.H. Tobias (Jon); F. Rivadeneira Ramirez (Fernando); D.M. Evans (David)

    2014-01-01

    textabstractHeritability of bone mineral density (BMD) varies across skeletal sites, reflecting different relative contributions of genetic and environmental influences. To quantify the degree to which common genetic variants tag and environmental factors influence BMD, at different sites, we

  3. The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency.

    Science.gov (United States)

    Rubinstein, Wendy S; Maglott, Donna R; Lee, Jennifer M; Kattman, Brandi L; Malheiro, Adriana J; Ovetsky, Michael; Hem, Vichet; Gorelenkov, Viatcheslav; Song, Guangfeng; Wallin, Craig; Husain, Nora; Chitipiralla, Shanmuga; Katz, Kenneth S; Hoffman, Douglas; Jang, Wonhee; Johnson, Mark; Karmanov, Fedor; Ukrainchik, Alexander; Denisenko, Mikhail; Fomous, Cathy; Hudson, Kathy; Ostell, James M

    2013-01-01

    The National Institutes of Health Genetic Testing Registry (GTR; available online at http://www.ncbi.nlm.nih.gov/gtr/) maintains comprehensive information about testing offered worldwide for disorders with a genetic basis. Information is voluntarily submitted by test providers. The database provides details of each test (e.g. its purpose, target populations, methods, what it measures, analytical validity, clinical validity, clinical utility, ordering information) and laboratory (e.g. location, contact information, certifications and licenses). Each test is assigned a stable identifier of the format GTR000000000, which is versioned when the submitter updates information. Data submitted by test providers are integrated with basic information maintained in National Center for Biotechnology Information's databases and presented on the web and through FTP (ftp.ncbi.nih.gov/pub/GTR/_README.html).

  4. Simulation Optimization by Genetic Search: A Comprehensive Study with Applications to Production Management

    National Research Council Canada - National Science Library

    Yunker, James

    2003-01-01

    In this report, a relatively new simulation optimization technique, the genetic search, is compared to two more established simulation techniques-the pattern search and the response surface methodology search...

  5. HGV&TB: a comprehensive online resource on human genes and genetic variants associated with tuberculosis

    OpenAIRE

    Sahajpal, Ruchika; Kandoi, Gaurav; Dhiman, Heena; Raj, Sweety; Scaria, Vinod; Bhartiya, Deeksha; Hasija, Yasha

    2014-01-01

    Abstract Tuberculosis (TB) is an infectious disease caused by fastidious pathogen Mycobacterium tuberculosis. TB has emerged as one of the major causes of mortality in the developing world. Role of host genetic factors that modulate disease susceptibility have not been studied widely. Recent studies have reported few genetic loci that provide impetus to this area of research. The availability of tools has enabled genome-wide scans for disease susceptibility loci associated with infectious dis...

  6. Cervical Artery Dissection and Choosing Appropriate Therapy.

    Science.gov (United States)

    Lau, Jonathan T; Hunt, John S; Bruner, David I; Austin, Andrea L

    2017-08-01

    Cervical artery dissection is a common cause of stroke in young adults. This may result from head and neck trauma; it can also occur spontaneously or secondary to genetic connective tissue or vascular disorders. Neurologic symptoms arise as a result of thromboembolism and hypoperfusion causing cerebral ischemia. We present a case of a previously healthy male who was found to have a cervical internal carotid artery dissection and the decision to use antiplatelet therapy instead of anticoagulation to prevent stroke. Data is lacking regarding the efficacy of one therapy over the other.

  7. Cervical Artery Dissection and Choosing Appropriate Therapy

    Directory of Open Access Journals (Sweden)

    Jonathan T. Lau

    2017-07-01

    Full Text Available Cervical artery dissection is a common cause of stroke in young adults. This may result from head and neck trauma; it can also occur spontaneously or secondary to genetic connective tissue or vascular disorders. Neurologic symptoms arise as a result of thromboembolism and hypoperfusion causing cerebral ischemia. We present a case of a previously healthy male who was found to have a cervical internal carotid artery dissection and the decision to use antiplatelet therapy instead of anticoagulation to prevent stroke. Data is lacking regarding the efficacy of one therapy over the other.

  8. Comprehensive genetic analysis of early host body reactions to the bioactive and bio-inert porous scaffolds.

    Directory of Open Access Journals (Sweden)

    Tomo Ehashi

    Full Text Available To design scaffolds for tissue regeneration, details of the host body reaction to the scaffolds must be studied. Host body reactions have been investigated mainly by immunohistological observations for a long time. Despite of recent dramatic development in genetic analysis technologies, genetically comprehensive changes in host body reactions are hardly studied. There is no information about host body reactions that can predict successful tissue regeneration in the future. In the present study, porous polyethylene scaffolds were coated with bioactive collagen or bio-inert poly(2-methacryloyloxyethyl phosphorylcholine-co-n-butyl methacrylate (PMB and were implanted subcutaneously and compared the host body reaction to those substrates by normalizing the result using control non-coat polyethylene scaffold. The comprehensive analyses of early host body reactions to the scaffolds were carried out using a DNA microarray assay. Within numerous genes which were expressed differently among these scaffolds, particular genes related to inflammation, wound healing, and angiogenesis were focused upon. Interleukin (IL-1β and IL-10 are important cytokines in tissue responses to biomaterials because IL-1β promotes both inflammation and wound healing and IL-10 suppresses both of them. IL-1β was up-regulated in the collagen-coated scaffold. Collagen-specifically up-regulated genes contained both M1- and M2-macrophage-related genes. Marked vessel formation in the collagen-coated scaffold was occurred in accordance with the up-regulation of many angiogenesis-inducible factors. The DNA microarray assay provided global information regarding the host body reaction. Interestingly, several up-regulated genes were detected even on the very bio-inert PMB-coated surfaces and those genes include inflammation-suppressive and wound healing-suppressive IL-10, suggesting that not only active tissue response but also the inert response may relates to these genetic

  9. Comprehensive Genetic Analysis of Early Host Body Reactions to the Bioactive and Bio-Inert Porous Scaffolds

    Science.gov (United States)

    Ehashi, Tomo; Takemura, Taro; Hanagata, Nobutaka; Minowa, Takashi; Kobayashi, Hisatoshi; Ishihara, Kazuhiko; Yamaoka, Tetsuji

    2014-01-01

    To design scaffolds for tissue regeneration, details of the host body reaction to the scaffolds must be studied. Host body reactions have been investigated mainly by immunohistological observations for a long time. Despite of recent dramatic development in genetic analysis technologies, genetically comprehensive changes in host body reactions are hardly studied. There is no information about host body reactions that can predict successful tissue regeneration in the future. In the present study, porous polyethylene scaffolds were coated with bioactive collagen or bio-inert poly(2-methacryloyloxyethyl phosphorylcholine-co-n-butyl methacrylate) (PMB) and were implanted subcutaneously and compared the host body reaction to those substrates by normalizing the result using control non-coat polyethylene scaffold. The comprehensive analyses of early host body reactions to the scaffolds were carried out using a DNA microarray assay. Within numerous genes which were expressed differently among these scaffolds, particular genes related to inflammation, wound healing, and angiogenesis were focused upon. Interleukin (IL)-1β and IL-10 are important cytokines in tissue responses to biomaterials because IL-1β promotes both inflammation and wound healing and IL-10 suppresses both of them. IL-1β was up-regulated in the collagen-coated scaffold. Collagen-specifically up-regulated genes contained both M1- and M2-macrophage-related genes. Marked vessel formation in the collagen-coated scaffold was occurred in accordance with the up-regulation of many angiogenesis-inducible factors. The DNA microarray assay provided global information regarding the host body reaction. Interestingly, several up-regulated genes were detected even on the very bio-inert PMB-coated surfaces and those genes include inflammation-suppressive and wound healing-suppressive IL-10, suggesting that not only active tissue response but also the inert response may relates to these genetic regulations. PMID:24454803

  10. Life cycle assessment of genetically modified products as a basis for a comprehensive assessment of possible environmental effects

    International Nuclear Information System (INIS)

    Kloepffer, W.; Renner, I.; Schmidt, E.; Tappeser, B.; Gensch, C.O.; Gaugitsch, H.

    2001-01-01

    In the preceding project 'Life Cycle Assessment of genetically modified products as a basis for a comprehensive assessment of possible environmental effects' for the first time the risks of deliberate release of genetically modified organisms (GMOs) into the environment have been taken into account in a Life Cycle Assessment (LCA). This was performed by a risk assessment in addition to a quantitative impact assessment. As from a methodological perspective this was not satisfactory, the Federal Environment Agency commissioned the C.A.U. GmbH and the Institute of Applied Ecology Freiburg to further develop the impact assessment methodology for the risks of GMOs. Any further development of the methodology of impact assessment in LCAs has to be performed on the basis of the standard EN/ISO 14042. There are 2 options for taking into account risks of deliberate release of GMOs: 1. allocation of the potential effects resulting from the genetic modification on human beings and the environment to existing categories of the impact assessment and attempt to quantify within those existing methods of characterization; 2. development of a new category, e.g. 'effects of genetically modified crop plants'. In order to asses the possibilities under option 1 various models of characterization within the categories human toxicity, ecotoxicity and land use (appropriation of environmental space) have been analyzed. The risks of GMOs identified and dealt with in the preceding study were allocated to these categories. It seemed to be impossible to integrate the risks in existing models of characterization for human toxicity and ecotoxicity, as these are based on exposure and impact factors. The development of a factor for exposure seems possible for GMOs, however a suitable impact factor is not possible to generate. In addition it was analyzed if in other impact categories which are difficult to quantify any solutions for operationalization exist. This does not seem to be the case. As a

  11. Genetic and environmental dissections of sub-phenotypes of metabolic syndrome in the chinese population: a twin-based heritability study

    DEFF Research Database (Denmark)

    Duan, Haiping; Pang, Zengchang; Zhang, Dongfeng

    2011-01-01

    contains 654 twins collected in the Qingdao municipality. A total of 10 phenotypes covering anthropometric measurements, plasma glucose levels, lipids, blood pressures etc. were examined. Univariate and bivariate structural equation models were fitted for assessing the genetic and environmental...... contributions. Results: The AE model combining additive genetic (A) and unique environmental (E) factors produced the best fit for all phenotypes except for triglyceride. Modest to high heritability estimates were obtained in univariate analysis ranging from 0.5 for total cholesterol to 0.78 for weight...

  12. Genetic correlations between brain volumes and the WAIS-III dimensions of verbal comprehension, working memory, perceptual organization, and processing speed

    DEFF Research Database (Denmark)

    Posthuma, Daniëlle; Baare, Wim F.C.; Hulshoff Pol, Hilleke E.

    2003-01-01

    We recently showed that the correlation of gray and white matter volume with full scale IQ and the Working Memory dimension are completely mediated by common genetic factors (Posthuma et al., 2002). Here we examine whether the other WAIS III dimensions (Verbal Comprehension, Perceptual Organization...... to Working Memory capacity (r = 0.27). This phenotypic correlation is completely due to a common underlying genetic factor. Processing Speed was genetically related to white matter volume (r(g) = 0.39). Perceptual Organization was both genetically (r(g) = 0.39) and environmentally (r(e) = -0.71) related...

  13. Genetic dissection of hybrid incompatibilities between Drosophila simulans and D. mauritiana. II. Mapping hybrid male sterility loci on the third chromosome.

    Science.gov (United States)

    Tao, Yun; Zeng, Zhao-Bang; Li, Jian; Hartl, Daniel L; Laurie, Cathy C

    2003-08-01

    Hybrid male sterility (HMS) is a rapidly evolving mechanism of reproductive isolation in Drosophila. Here we report a genetic analysis of HMS in third-chromosome segments of Drosophila mauritiana that were introgressed into a D. simulans background. Qualitative genetic mapping was used to localize 10 loci on 3R and a quantitative trait locus (QTL) procedure (multiple-interval mapping) was used to identify 19 loci on the entire chromosome. These genetic incompatibilities often show dominance and complex patterns of epistasis. Most of the HMS loci have relatively small effects and generally at least two or three of them are required to produce complete sterility. Only one small region of the third chromosome of D. mauritiana by itself causes a high level of infertility when introgressed into D. simulans. By comparison with previous studies of the X chromosome, we infer that HMS loci are only approximately 40% as dense on this autosome as they are on the X chromosome. These results are consistent with the gradual evolution of hybrid incompatibilities as a by-product of genetic divergence in allopatric populations.

  14. DOG-SPOT database for comprehensive management of dog genetic research data

    Directory of Open Access Journals (Sweden)

    Sutter Nathan B

    2010-12-01

    Full Text Available Abstract Research laboratories studying the genetics of companion animals have no database tools specifically designed to aid in the management of the many kinds of data that are generated, stored and analyzed. We have developed a relational database, "DOG-SPOT," to provide such a tool. Implemented in MS-Access, the database is easy to extend or customize to suit a lab's particular needs. With DOG-SPOT a lab can manage data relating to dogs, breeds, samples, biomaterials, phenotypes, owners, communications, amplicons, sequences, markers, genotypes and personnel. Such an integrated data structure helps ensure high quality data entry and makes it easy to track physical stocks of biomaterials and oligonucleotides.

  15. Comprehensive analyses of imprinted differentially methylated regions reveal epigenetic and genetic characteristics in hepatoblastoma

    International Nuclear Information System (INIS)

    Rumbajan, Janette Mareska; Aoki, Shigehisa; Kohashi, Kenichi; Oda, Yoshinao; Hata, Kenichiro; Saji, Tsutomu; Taguchi, Tomoaki; Tajiri, Tatsuro; Soejima, Hidenobu; Joh, Keiichiro; Maeda, Toshiyuki; Souzaki, Ryota; Mitsui, Kazumasa; Higashimoto, Ken; Nakabayashi, Kazuhiko; Yatsuki, Hitomi; Nishioka, Kenichi; Harada, Ryoko

    2013-01-01

    Aberrant methylation at imprinted differentially methylated regions (DMRs) in human 11p15.5 has been reported in many tumors including hepatoblastoma. However, the methylation status of imprinted DMRs in imprinted loci scattered through the human genome has not been analyzed yet in any tumors. The methylation statuses of 33 imprinted DMRs were analyzed in 12 hepatoblastomas and adjacent normal liver tissue by MALDI-TOF MS and pyrosequencing. Uniparental disomy (UPD) and copy number abnormalities were investigated with DNA polymorphisms. Among 33 DMRs analyzed, 18 showed aberrant methylation in at least 1 tumor. There was large deviation in the incidence of aberrant methylation among the DMRs. KvDMR1 and IGF2-DMR0 were the most frequently hypomethylated DMRs. INPP5Fv2-DMR and RB1-DMR were hypermethylated with high frequencies. Hypomethylation was observed at certain DMRs not only in tumors but also in a small number of adjacent histologically normal liver tissue, whereas hypermethylation was observed only in tumor samples. The methylation levels of long interspersed nuclear element-1 (LINE-1) did not show large differences between tumor tissue and normal liver controls. Chromosomal abnormalities were also found in some tumors. 11p15.5 and 20q13.3 loci showed the frequent occurrence of both genetic and epigenetic alterations. Our analyses revealed tumor-specific aberrant hypermethylation at some imprinted DMRs in 12 hepatoblastomas with additional suggestion for the possibility of hypomethylation prior to tumor development. Some loci showed both genetic and epigenetic alterations with high frequencies. These findings will aid in understanding the development of hepatoblastoma

  16. Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.

    Directory of Open Access Journals (Sweden)

    John P Kemp

    2014-06-01

    Full Text Available Heritability of bone mineral density (BMD varies across skeletal sites, reflecting different relative contributions of genetic and environmental influences. To quantify the degree to which common genetic variants tag and environmental factors influence BMD, at different sites, we estimated the genetic (rg and residual (re correlations between BMD measured at the upper limbs (UL-BMD, lower limbs (LL-BMD and skull (SK-BMD, using total-body DXA scans of ∼ 4,890 participants recruited by the Avon Longitudinal Study of Parents and their Children (ALSPAC. Point estimates of rg indicated that appendicular sites have a greater proportion of shared genetic architecture (LL-/UL-BMD rg = 0.78 between them, than with the skull (UL-/SK-BMD rg = 0.58 and LL-/SK-BMD rg = 0.43. Likewise, the residual correlation between BMD at appendicular sites (r(e = 0.55 was higher than the residual correlation between SK-BMD and BMD at appendicular sites (r(e = 0.20-0.24. To explore the basis for the observed differences in rg and re, genome-wide association meta-analyses were performed (n ∼ 9,395, combining data from ALSPAC and the Generation R Study identifying 15 independent signals from 13 loci associated at genome-wide significant level across different skeletal regions. Results suggested that previously identified BMD-associated variants may exert site-specific effects (i.e. differ in the strength of their association and magnitude of effect across different skeletal sites. In particular, variants at CPED1 exerted a larger influence on SK-BMD and UL-BMD when compared to LL-BMD (P = 2.01 × 10(-37, whilst variants at WNT16 influenced UL-BMD to a greater degree when compared to SK- and LL-BMD (P = 2.31 × 10(-14. In addition, we report a novel association between RIN3 (previously associated with Paget's disease and LL-BMD (rs754388: β = 0.13, SE = 0.02, P = 1.4 × 10(-10. Our results suggest that BMD at different skeletal sites is under a mixture of shared and

  17. Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.

    Science.gov (United States)

    Kemp, John P; Medina-Gomez, Carolina; Estrada, Karol; St Pourcain, Beate; Heppe, Denise H M; Warrington, Nicole M; Oei, Ling; Ring, Susan M; Kruithof, Claudia J; Timpson, Nicholas J; Wolber, Lisa E; Reppe, Sjur; Gautvik, Kaare; Grundberg, Elin; Ge, Bing; van der Eerden, Bram; van de Peppel, Jeroen; Hibbs, Matthew A; Ackert-Bicknell, Cheryl L; Choi, Kwangbom; Koller, Daniel L; Econs, Michael J; Williams, Frances M K; Foroud, Tatiana; Zillikens, M Carola; Ohlsson, Claes; Hofman, Albert; Uitterlinden, André G; Davey Smith, George; Jaddoe, Vincent W V; Tobias, Jonathan H; Rivadeneira, Fernando; Evans, David M

    2014-06-01

    Heritability of bone mineral density (BMD) varies across skeletal sites, reflecting different relative contributions of genetic and environmental influences. To quantify the degree to which common genetic variants tag and environmental factors influence BMD, at different sites, we estimated the genetic (rg) and residual (re) correlations between BMD measured at the upper limbs (UL-BMD), lower limbs (LL-BMD) and skull (SK-BMD), using total-body DXA scans of ∼ 4,890 participants recruited by the Avon Longitudinal Study of Parents and their Children (ALSPAC). Point estimates of rg indicated that appendicular sites have a greater proportion of shared genetic architecture (LL-/UL-BMD rg = 0.78) between them, than with the skull (UL-/SK-BMD rg = 0.58 and LL-/SK-BMD rg = 0.43). Likewise, the residual correlation between BMD at appendicular sites (r(e) = 0.55) was higher than the residual correlation between SK-BMD and BMD at appendicular sites (r(e) = 0.20-0.24). To explore the basis for the observed differences in rg and re, genome-wide association meta-analyses were performed (n ∼ 9,395), combining data from ALSPAC and the Generation R Study identifying 15 independent signals from 13 loci associated at genome-wide significant level across different skeletal regions. Results suggested that previously identified BMD-associated variants may exert site-specific effects (i.e. differ in the strength of their association and magnitude of effect across different skeletal sites). In particular, variants at CPED1 exerted a larger influence on SK-BMD and UL-BMD when compared to LL-BMD (P = 2.01 × 10(-37)), whilst variants at WNT16 influenced UL-BMD to a greater degree when compared to SK- and LL-BMD (P = 2.31 × 10(-14)). In addition, we report a novel association between RIN3 (previously associated with Paget's disease) and LL-BMD (rs754388: β = 0.13, SE = 0.02, P = 1.4 × 10(-10)). Our results suggest that BMD at different skeletal sites is under a mixture of shared and

  18. Virtual reality haptic dissection.

    Science.gov (United States)

    Erolin, Caroline; Wilkinson, Caroline; Soames, Roger

    2011-12-01

    This project aims to create a three-dimensional digital model of the human hand and wrist which can be virtually 'dissected' through a haptic interface. Tissue properties will be added to the various anatomical structures to replicate a realistic look and feel. The project will explore the role of the medical artist, and investigate cross-discipline collaborations in the field of virtual anatomy. The software will be used to train anatomy students in dissection skills, before experience on a real cadaver. The effectiveness of the software will be evaluated and assessed both quantitatively as well as qualitatively.

  19. Dissecting the Contributions of Cooperating Gene Mutations to Cancer Phenotypes and Drug Responses with Patient-Derived iPSCs

    Directory of Open Access Journals (Sweden)

    Chan-Jung Chang

    2018-05-01

    Full Text Available Summary: Connecting specific cancer genotypes with phenotypes and drug responses constitutes the central premise of precision oncology but is hindered by the genetic complexity and heterogeneity of primary cancer cells. Here, we use patient-derived induced pluripotent stem cells (iPSCs and CRISPR/Cas9 genome editing to dissect the individual contributions of two recurrent genetic lesions, the splicing factor SRSF2 P95L mutation and the chromosome 7q deletion, to the development of myeloid malignancy. Using a comprehensive panel of isogenic iPSCs—with none, one, or both genetic lesions—we characterize their relative phenotypic contributions and identify drug sensitivities specific to each one through a candidate drug approach and an unbiased large-scale small-molecule screen. To facilitate drug testing and discovery, we also derive SRSF2-mutant and isogenic normal expandable hematopoietic progenitor cells. We thus describe here an approach to dissect the individual effects of two cooperating mutations to clinically relevant features of malignant diseases. : Papapetrou and colleagues develop a comprehensive panel of isogenic iPSC lines with SRSF2 P95L mutation and chr7q deletion. They use these cells to identify cellular phenotypes contributed by each genetic lesion and therapeutic vulnerabilities specific to each one and develop expandable hematopoietic progenitor cell lines to facilitate drug discovery. Keywords: induced pluripotent stem cells, myelodysplastic syndrome, CRISPR/Cas9, gene editing, mutational cooperation, splicing factor mutations, spliceosomal mutations, SRSF2, chr7q deletion

  20. Selective neck dissection: a review of the evidence.

    Science.gov (United States)

    Pagedar, Nitin A; Gilbert, Ralph W

    2009-01-01

    The management of regional metastatic disease in patients with oral cancer is a topic of controversy. Comprehensive neck dissection has been the mainstay of treatment historically, but clinicians have sought alternatives to limit the morbidity of the classic radical neck dissection. This article will review evidence on the applicability of selective neck dissection in two settings: as primary treatment of the clinically positive neck and as salvage treatment of recurrent neck disease after radiotherapy. In the text, for each article cited we supply the level of evidence thereof according to the Oxford Centre for Evidence-based medicine.

  1. Genetic Dissection of Nutrition-Induced Plasticity in Insulin/Insulin-Like Growth Factor Signaling and Median Life Span in a Drosophila Multiparent Population.

    Science.gov (United States)

    Stanley, Patrick D; Ng'oma, Enoch; O'Day, Siri; King, Elizabeth G

    2017-06-01

    The nutritional environments that organisms experience are inherently variable, requiring tight coordination of how resources are allocated to different functions relative to the total amount of resources available. A growing body of evidence supports the hypothesis that key endocrine pathways play a fundamental role in this coordination. In particular, the insulin/insulin-like growth factor signaling (IIS) and target of rapamycin (TOR) pathways have been implicated in nutrition-dependent changes in metabolism and nutrient allocation. However, little is known about the genetic basis of standing variation in IIS/TOR or how diet-dependent changes in expression in this pathway influence phenotypes related to resource allocation. To characterize natural genetic variation in the IIS/TOR pathway, we used >250 recombinant inbred lines (RILs) derived from a multiparental mapping population, the Drosophila Synthetic Population Resource, to map transcript-level QTL of genes encoding 52 core IIS/TOR components in three different nutritional environments [dietary restriction (DR), control (C), and high sugar (HS)]. Nearly all genes, 87%, were significantly differentially expressed between diets, though not always in ways predicted by loss-of-function mutants. We identified cis ( i.e. , local) expression QTL (eQTL) for six genes, all of which are significant in multiple nutrient environments. Further, we identified trans ( i.e. , distant) eQTL for two genes, specific to a single nutrient environment. Our results are consistent with many small changes in the IIS/TOR pathways. A discriminant function analysis for the C and DR treatments identified a pattern of gene expression associated with the diet treatment. Mapping the composite discriminant function scores revealed a significant global eQTL within the DR diet. A correlation between the discriminant function scores and the median life span ( r = 0.46) provides evidence that gene expression changes in response to diet are

  2. A Geometric Dissection Problem

    Indian Academy of Sciences (India)

    Home; Journals; Resonance – Journal of Science Education; Volume 7; Issue 7. A Geometric Dissection Problem. M N Deshpande. Think It Over Volume 7 Issue 7 July 2002 pp 91-91. Fulltext. Click here to view fulltext PDF. Permanent link: https://www.ias.ac.in/article/fulltext/reso/007/07/0091-0091. Author Affiliations.

  3. Imaging in aortic dissection

    International Nuclear Information System (INIS)

    Yu-Qing Liu, M.D.

    1995-01-01

    Aortic dissection (AD) is a catastrophic aortic disease. Imaging techniques play an invaluable role in the diagnostic evaluation and management of patients with AD. Major signs of AD with different imaging modalities are described in this article with a pertinent discussion on guidelines for the optimized approach of imaging study (13 refs.)

  4. Imaging in aortic dissection

    Energy Technology Data Exchange (ETDEWEB)

    Yu-Qing Liu, M D [Chinese Academy of Medical Sciences, Beijing, BJ (China). Dept. of Radiology, Fu Wai Hospital and Cardiovascular Inst.

    1996-12-31

    Aortic dissection (AD) is a catastrophic aortic disease. Imaging techniques play an invaluable role in the diagnostic evaluation and management of patients with AD. Major signs of AD with different imaging modalities are described in this article with a pertinent discussion on guidelines for the optimized approach of imaging study (13 refs.).

  5. Mastectomy using ultrasonic dissection

    DEFF Research Database (Denmark)

    Galatius, Hanne; Okholm, Mette; Hoffmann, Jack

    2003-01-01

    on seroma formation and other complications: 59 patients with operable breast cancer underwent modified radical mastectomy, performed in 30 of them with an Ultracision Harmonic scalpel and in 29 with scissors and electrocautery. In all cases a standard level II axillary dissection was performed...

  6. Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

    Science.gov (United States)

    Paththinige, C S; Sirisena, N D; Dissanayake, Vhw

    2017-06-02

    Hypercholesterolemia is a strong determinant of mortality and morbidity associated with cardiovascular diseases and a major contributor to the global disease burden. Mutations in four genes (LDLR, APOB, PCSK9 and LDLRAP1) account for the majority of cases with familial hypercholesterolemia. However, a substantial proportion of adults with hypercholesterolemia do not have a mutation in any of these four genes. This indicates the probability of having other genes with a causative or contributory role in the pathogenesis of hypercholesterolemia and suggests a polygenic inheritance of this condition. Here in, we review the recent evidence of association of the genetic variants with hypercholesterolemia and the three lipid traits; total cholesterol (TC), HDL-cholesterol (HDL-C) and LDL-cholesterol (LDL-C), their biological pathways and the associated pathogenetic mechanisms. Nearly 80 genes involved in lipid metabolism (encoding structural components of lipoproteins, lipoprotein receptors and related proteins, enzymes, lipid transporters, lipid transfer proteins, and activators or inhibitors of protein function and gene transcription) with single nucleotide variants (SNVs) that are recognized to be associated with hypercholesterolemia and serum lipid traits in genome-wide association studies and candidate gene studies were identified. In addition, genome-wide association studies in different populations have identified SNVs associated with TC, HDL-C and LDL-C in nearly 120 genes within or in the vicinity of the genes that are not known to be involved in lipid metabolism. Over 90% of the SNVs in both these groups are located outside the coding regions of the genes. These findings indicates that there might be a considerable number of unrecognized processes and mechanisms of lipid homeostasis, which when disrupted, would lead to hypercholesterolemia. Knowledge of these molecular pathways will enable the discovery of novel treatment and preventive methods as well as

  7. Genetic dissection of hybrid incompatibilities between Drosophila simulans and D. mauritiana. I. Differential accumulation of hybrid male sterility effects on the X and autosomes.

    Science.gov (United States)

    Tao, Yun; Chen, Sining; Hartl, Daniel L; Laurie, Cathy C

    2003-08-01

    The genetic basis of hybrid incompatibility in crosses between Drosophila mauritiana and D. simulans was investigated to gain insight into the evolutionary mechanisms of speciation. In this study, segments of the D. mauritiana third chromosome were introgressed into a D. simulans genetic background and tested as homozygotes for viability, male fertility, and female fertility. The entire third chromosome was covered with partially overlapping segments. Many segments were male sterile, while none were female sterile or lethal, confirming previous reports of the rapid evolution of hybrid male sterility (HMS). A statistical model was developed to quantify the HMS accumulation. In comparison with previous work on the X chromosome, we estimate that the X has approximately 2.5 times the density of HMS factors as the autosomes. We also estimate that the whole genome contains approximately 15 HMS "equivalents"-i.e., 15 times the minimum number of incompatibility factors necessary to cause complete sterility. Although some caveats for the quantitative estimate of a 2.5-fold density difference are described, this study supports the notion that the X chromosome plays a special role in the evolution of reproductive isolation. Possible mechanisms of a "large X" effect include selective fixation of new mutations that are recessive or partially recessive and the evolution of sex-ratio distortion systems.

  8. Genetic variation in the TP53 pathway and bladder cancer risk. a comprehensive analysis.

    Directory of Open Access Journals (Sweden)

    Silvia Pineda

    Full Text Available Germline variants in TP63 have been consistently associated with several tumors, including bladder cancer, indicating the importance of TP53 pathway in cancer genetic susceptibility. However, variants in other related genes, including TP53 rs1042522 (Arg72Pro, still present controversial results. We carried out an in depth assessment of associations between common germline variants in the TP53 pathway and bladder cancer risk.We investigated 184 tagSNPs from 18 genes in 1,058 cases and 1,138 controls from the Spanish Bladder Cancer/EPICURO Study. Cases were newly-diagnosed bladder cancer patients during 1998-2001. Hospital controls were age-gender, and area matched to cases. SNPs were genotyped in blood DNA using Illumina Golden Gate and TaqMan assays. Cases were subphenotyped according to stage/grade and tumor p53 expression. We applied classical tests to assess individual SNP associations and the Least Absolute Shrinkage and Selection Operator (LASSO-penalized logistic regression analysis to assess multiple SNPs simultaneously.Based on classical analyses, SNPs in BAK1 (1, IGF1R (5, P53AIP1 (1, PMAIP1 (2, SERINPB5 (3, TP63 (3, and TP73 (1 showed significant associations at p-value≤0.05. However, no evidence of association, either with overall risk or with specific disease subtypes, was observed after correction for multiple testing (p-value≥0.8. LASSO selected the SNP rs6567355 in SERPINB5 with 83% of reproducibility. This SNP provided an OR = 1.21, 95%CI 1.05-1.38, p-value = 0.006, and a corrected p-value = 0.5 when controlling for over-estimation.We found no strong evidence that common variants in the TP53 pathway are associated with bladder cancer susceptibility. Our study suggests that it is unlikely that TP53 Arg72Pro is implicated in the UCB in white Europeans. SERPINB5 and TP63 variation deserve further exploration in extended studies.

  9. The root hair assay facilitates the use of genetic and pharmacological tools in order to dissect multiple signalling pathways that lead to programmed cell death.

    Directory of Open Access Journals (Sweden)

    Joanna Kacprzyk

    Full Text Available The activation of programmed cell death (PCD is often a result of complex signalling pathways whose relationship and intersection are not well understood. We recently described a PCD root hair assay and proposed that it could be used to rapidly screen genetic or pharmacological modulators of PCD. To further assess the applicability of the root hair assay for studying multiple signalling pathways leading to PCD activation we have investigated the crosstalk between salicylic acid, autophagy and apoptosis-like PCD (AL-PCD in Arabidopsis thaliana. The root hair assay was used to determine rates of AL-PCD induced by a panel of cell death inducing treatments in wild type plants treated with chemical modulators of salicylic acid synthesis or autophagy, and in genetic lines defective in autophagy or salicylic acid signalling. The assay demonstrated that PCD induced by exogenous salicylic acid or fumonisin B1 displayed a requirement for salicylic acid signalling and was partially dependent on the salicylic acid signal transducer NPR1. Autophagy deficiency resulted in an increase in the rates of AL-PCD induced by salicylic acid and fumonisin B1, but not by gibberellic acid or abiotic stress. The phenylalanine ammonia lyase-dependent salicylic acid synthesis pathway contributed only to death induced by salicylic acid and fumonisin B1. 3-Methyladenine, which is commonly used as an inhibitor of autophagy, appeared to influence PCD induction in all treatments suggesting a possible secondary, non-autophagic, effect on a core component of the plant PCD pathway. The results suggest that salicylic acid signalling is negatively regulated by autophagy during salicylic acid and mycotoxin-induced AL-PCD. However, this crosstalk does not appear to be directly involved in PCD induced by gibberellic acid or abiotic stress. This study demonstrates that the root hair assay is an effective tool for relatively rapid investigation of complex signalling pathways leading to

  10. Breed-specific hematological phenotypes in the dog: a natural resource for the genetic dissection of hematological parameters in a mammalian species.

    Directory of Open Access Journals (Sweden)

    Jennifer Lawrence

    Full Text Available Remarkably little has been published on hematological phenotypes of the domestic dog, the most polymorphic species on the planet. Information on the signalment and complete blood cell count of all dogs with normal red and white blood cell parameters judged by existing reference intervals was extracted from a veterinary database. Normal hematological profiles were available for 6046 dogs, 5447 of which also had machine platelet concentrations within the reference interval. Seventy-five pure breeds plus a mixed breed control group were represented by 10 or more dogs. All measured parameters except mean corpuscular hemoglobin concentration (MCHC varied with age. Concentrations of white blood cells (WBCs, neutrophils, monocytes, lymphocytes, eosinophils and platelets, but not red blood cell parameters, all varied with sex. Neutering status had an impact on hemoglobin concentration, mean corpuscular hemoglobin (MCH, MCHC, and concentrations of WBCs, neutrophils, monocytes, lymphocytes and platelets. Principal component analysis of hematological data revealed 37 pure breeds with distinctive phenotypes. Furthermore, all hematological parameters except MCHC showed significant differences between specific individual breeds and the mixed breed group. Twenty-nine breeds had distinctive phenotypes when assessed in this way, of which 19 had already been identified by principal component analysis. Tentative breed-specific reference intervals were generated for breeds with a distinctive phenotype identified by comparative analysis. This study represents the first large-scale analysis of hematological phenotypes in the dog and underlines the important potential of this species in the elucidation of genetic determinants of hematological traits, triangulating phenotype, breed and genetic predisposition.

  11. Genetic correlations between brain volumes and the WAIS-III dimensions of verbal comprehension, working memory, perceptual organization, and processing speed

    NARCIS (Netherlands)

    Posthuma, D.; Baare, W.F.C.; Hulshoff Pol, H.E.; Kahn, R.S.; Boomsma, D.I.; de Geus, E.J.C.

    2003-01-01

    We recently showed that the correlation of gray and white matter volume with full scale IQ and the Working Memory dimension are completely mediated by common genetic factors (Posthuma et al., 2002). Here we examine whether the other WAIS III dimensions (Verbal Comprehension, Perceptual Organization,

  12. Vertebral basilar artery dissections

    International Nuclear Information System (INIS)

    Zimmerman, R.A.; Bilaniuk, L.T.; Hackney, D.B.; Grossman, R.I.; Goldberg, H.I.; Atlas, S.W.

    1988-01-01

    Eleven patients (ten male, one female; range, 2-56 years) presented with posterior circulation ischemic symptoms and were evaluated with computed tomography (CT) (eta=11), arteriography (eta=11), and magnetic resonance (MR) imaging (eta=6). Angiography showed dissection of a vertebral artery (eta=8), a basilar artery (eta=1), or a combination of both (eta=2). On CT and/or MR images, infarctions were demonstrated in ten of 11 cases. Most frequently involved were the thalmus (eta=7), cerebellum (eta=6), occipital lobes (eta=4), and pons (eta=3). The site of infarction did not correlate with the side or site of angiographic abnormality. In six cases evaluated by all modalities, MR imaging showed more extensive and widespread infarction than did CT and also showed whether or not the infarcts were hemorrhagic. MR imaging was able to demonstrate the presence of intramural dissecting hematoma prior to angiography and to indicate whether or not flow was reconstituted on follow-up examination

  13. Cervicocephalic arterial dissection

    International Nuclear Information System (INIS)

    Suyama, Kazuhiko; Hayashi, Kentaro; Nagata, Izumi

    2008-01-01

    The authors review the clinical and neuroradiological features of cervicocephalic arterial dissection, which is occasionally seen in young adults, with special reference to the differences in the region of occurrence of these lesions between patients in Western countries and Japan. In Western countries, the cervical internal carotid artery is the most common site of occurrence of these lesions; however, in Japan, these lesions have been frequently reported to occure in the intracranial vertebral artery. Most clinical manifestations of cervical arterial dissection are non-hemorrhagic events such as headaches associated with arterial dissection or cerebral ischemia caused by a distal embolism following thrombus formation in the cervical lesion. On the other hand, a subarachnoid hemorrhage and cerebral infarction are frequently observed in intracranial arterial dissections. Non-invasive procedures, including MR imaging, are useful for demonstrating characteristic features of this condition such as the presence of an intimal flap or a double lumen, and for monitoring the chronological changes in the lesions, which may regress spontaneously. Since the pathological mechanisms underlying the progression and/or the regression of this condition are still unknown, the clinical evidence indicating the optimal therapeutic strategies has not yet been reported. Nevertheless, conservative therapy, including antithrombotic treatment, is widely used for the treatment of non-hemorrhagic lesions, which generally results in good clinical outcomes. Further, surgical intervention is essential for the treatment of lesions with a subarachnoid hemorrhage to prevent fatal rebleeding, and it is also required for the treatment of certain non-hemorrhagic lesions. Recent advancements in surgical procedures, especially endovascular treatments, may therefore be helpful in the management of similar complicated vascular conditions. (author)

  14. Genetic correlations between brain volumes and the WAIS-III dimensions of verbal comprehension, working memory, perceptual organization, and processing speed

    DEFF Research Database (Denmark)

    Posthuma, Daniëlle; Baare, Wim F.C.; Hulshoff Pol, Hilleke E.

    2003-01-01

    We recently showed that the correlation of gray and white matter volume with full scale IQ and the Working Memory dimension are completely mediated by common genetic factors (Posthuma et al., 2002). Here we examine whether the other WAIS III dimensions (Verbal Comprehension, Perceptual Organization......, Processing Speed) are also related to gray and white matter volume, and whether any of the dimensions are related to cerebellar volume. Two overlapping samples provided 135 subjects from 60 extended twin families for whom both MRI scans and WAIS III data were available. All three brain volumes are related...... to Working Memory capacity (r = 0.27). This phenotypic correlation is completely due to a common underlying genetic factor. Processing Speed was genetically related to white matter volume (r(g) = 0.39). Perceptual Organization was both genetically (r(g) = 0.39) and environmentally (r(e) = -0.71) related...

  15. Genetic correlations between brain volumes and the WAIS-III dimensions of verbal comprehension, working memory, perceptual organization, and processing speed.

    Science.gov (United States)

    Posthuma, Daniëlle; Baaré, Wim F C; Hulshoff Pol, Hilleke E; Kahn, René S; Boomsma, Dorret I; De Geus, Eco J C

    2003-04-01

    We recently showed that the correlation of gray and white matter volume with full scale IQ and the Working Memory dimension are completely mediated by common genetic factors (Posthuma et al., 2002). Here we examine whether the other WAIS III dimensions (Verbal Comprehension, Perceptual Organization, Processing Speed) are also related to gray and white matter volume, and whether any of the dimensions are related to cerebellar volume. Two overlapping samples provided 135 subjects from 60 extended twin families for whom both MRI scans and WAIS III data were available. All three brain volumes are related to Working Memory capacity (r = 0.27). This phenotypic correlation is completely due to a common underlying genetic factor. Processing Speed was genetically related to white matter volume (r(g) = 0.39). Perceptual Organization was both genetically (r(g) = 0.39) and environmentally (r(e) = -0.71) related to cerebellar volume. Verbal Comprehension was not related to any of the three brain volumes. It is concluded that brain volumes are genetically related to intelligence which suggests that genes that influence brain volume may also be important for intelligence. It is also noted however, that the direction of causation (i.e., do genes influence brain volume which in turn influences intelligence, or alternatively, do genes influence intelligence which in turn influences brain volume), or the presence or absence of pleiotropy has not been resolved yet.

  16. Genetics in primary health care and the National Policy on Comprehensive Care for People with Rare Diseases in Brazil: opportunities and challenges for professional education.

    Science.gov (United States)

    Melo, Débora Gusmão; de Paula, Pamela Karen; de Araujo Rodrigues, Stephania; da Silva de Avó, Lucimar Retto; Germano, Carla Maria Ramos; Demarzo, Marcelo Marcos Piva

    2015-07-01

    As discoveries regarding the genetic contribution to disease have grown rapidly, health care professionals are expected to incorporate genetic and genomic perspectives into health education and practice. Genetic competencies common to all health professionals have been identified by the US National Coalition for Health Professional Education in Genetics (NCHPEG), which defined the knowledge, skills, and attitudes required to achieve these competencies. The aim of this study is to analyze genetic competencies of primary health care professionals in Brazil. It is a descriptive survey study, whereby doctors, nurses, and dentists were invited to participate by answering a questionnaire including 11 issues based on competencies established by the NCHPEG. Data were presented as percentages. Differences between groups of participants were assessed by the Fisher exact test, with the level of significance set at p < 0.05. Results showed that concerning knowledge, about 80 % of the participants recognized basic genetics terminology, but practitioners had difficulty in identifying patterns of inheritance. Regarding clinical skills, practitioners were able to recognize facial dysmorphias and identify situations where referral of patients to specialists was necessary. Nevertheless, there were challenges in the process of valuing and gathering information about family history. Regarding attitudes, 68.9 % of the participants thought about the comprehensiveness of care but faced challenges in counselling parents. The results of this study may contribute to developing an ongoing education program for primary health care professionals, leading to a strategy to overcome the challenges of including genetics in the Brazilian Unified Health System.

  17. al mena: a comprehensive resource of human genetic variants integrating genomes and exomes from Arab, Middle Eastern and North African populations.

    Science.gov (United States)

    Koshy, Remya; Ranawat, Anop; Scaria, Vinod

    2017-10-01

    Middle East and North Africa (MENA) encompass very unique populations, with a rich history and encompasses characteristic ethnic, linguistic and genetic diversity. The genetic diversity of MENA region has been largely unknown. The recent availability of whole-exome and whole-genome sequences from the region has made it possible to collect population-specific allele frequencies. The integration of data sets from this region would provide insights into the landscape of genetic variants in this region. We integrated genetic variants from multiple data sets systematically, available from this region to create a compendium of over 26 million genetic variations. The variants were systematically annotated and their allele frequencies in the data sets were computed and available as a web interface which enables quick query. As a proof of principle for application of the compendium for genetic epidemiology, we analyzed the allele frequencies for variants in transglutaminase 1 (TGM1) gene, associated with autosomal recessive lamellar ichthyosis. Our analysis revealed that the carrier frequency of selected variants differed widely with significant interethnic differences. To the best of our knowledge, al mena is the first and most comprehensive repertoire of genetic variations from the Arab, Middle Eastern and North African region. We hope al mena would accelerate Precision Medicine in the region.

  18. Imaging of thoracic aortic dissection

    International Nuclear Information System (INIS)

    Vu, F.H.; Young, N.; Soo, Y.S.

    1994-01-01

    Acute thoracic aortic dissection has a high mortality rate if untreated, so the diagnosis must be rapidly made. Multiple imaging techniques are often used. This retrospective study from 1988 to 1993 assesses the usefulness in diagnosis of chest X-rays, computed tomography (CT) scanning, aortography, magnetic resonance imaging (MRI), trans-thoracic (TTE) and trans-oesophageal (TOE) echocardiography. Forty-two patients with a final clinical diagnosis of dissection were studied. The diagnosis was confirmed in 16 (13 at surgery and three at autopsy). Three died with dissection given as the only cause of death. Chest X-ray abnormalities were seen in all 19 patients with surgery or death from dissection, with a widened mediastinum and/or dilated aorta being present in 17. In the group of 16 patients with surgery or autopsy proof, CT scans found dissections in 9 out of 12 patients studied and correctly classified the type in only five. Aortography was preformed in five, with accurate depiction of dissection and type in all. TTE found dissections in three of eight patients imaged by this method. MRI and TOE were preformed each on two patients, with accurate depiction of dissection and type in each. Because of the relatively low sensitivity of CT scanning in defining aortic dissections Westmead Hospital is currently assessing the use of TOE as the prime imaging modality prior to surgical intervention. 17 refs., 4 tabs., 4 figs

  19. Genetic dissection of drought tolerance in potato

    NARCIS (Netherlands)

    Anithakumari, A.M.

    2011-01-01

    Drought is the most important cause of crop and yield loss around the world. Breeding for

    drought tolerance is not straightforward, as drought is a complex trait. A better understanding

    of the expression of drought traits, the genes underlying the traits and the way these

  20. Automatic Dissection Of Plantlets

    Science.gov (United States)

    Batchelor, B. G.; Harris, I. P.; Marchant, J. A.; Tillett, R. D.

    1989-03-01

    Micropropagation is a technique used in horticulture for generating a monoclonal colony of plants. A tiny plantlet is cut into several parts, each of which is then replanted. At the moment, the cutting is performed manually. Automating this task would have significant economic benefits. A robot designed to dissect plants would need to be equipped with intelligent visual sensing. This article is concerned with the image acquisition and processing techniques which such a machine might use. A program, which can calculate where to cut a plant with an "open" structure, is presented. This is expressed in the ProVision language, which is described in another article presented at this conference. (Article 1002-65)

  1. Genomic dissection and prioritizing of candidate genes of QTL for ...

    Indian Academy of Sciences (India)

    Genomic dissection and prioritizing of candidate genes of QTL for regulating spontaneous arthritis on chromosome 1 in mice deficient for interleukin-1 receptor antagonist. Yanhong Cao, Jifei Zhang, Yan Jiao, Jian Yan, Feng Jiao, XiaoYun Liu, Robert W. Williams, Karen A. Hasty,. John M. Stuart and Weikuan Gu. J. Genet.

  2. Cine MRI of dissecting aneurysm

    International Nuclear Information System (INIS)

    Takaki, Hajime

    1991-01-01

    Cine MRI was performed in 25 cases of aortic dissection and comparative study among cine MRI, spin-echo static MRI, contrast-enhanced CT and intravenous digital subtraction angiography (IVDSA) was made. Cine MRI accurately detected aortic dissection. It was most accurate among various diagnostic methods in demonstration of entry site of dissection. Take-off of renal artery and its relation to true and false channels was also accurately demonstrated by cine MRI. The above results suggest that cine MRI can be an important diagnostic modality with almost equal diagnostic quality to those of conventional angiography. However, further technical improvement to shorten the imaging time seems necessary to replace angiography. (author)

  3. Biomedicine: an ontological dissection.

    Science.gov (United States)

    Baronov, David

    2008-01-01

    Though ubiquitous across the medical social sciences literature, the term "biomedicine" as an analytical concept remains remarkably slippery. It is argued here that this imprecision is due in part to the fact that biomedicine is comprised of three interrelated ontological spheres, each of which frames biomedicine as a distinct subject of investigation. This suggests that, depending upon one's ontological commitment, the meaning of biomedicine will shift. From an empirical perspective, biomedicine takes on the appearance of a scientific enterprise and is defined as a derivative category of Western science more generally. From an interpretive perspective, biomedicine represents a symbolic-cultural expression whose adherence to the principles of scientific objectivity conceals an ideological agenda. From a conceptual perspective, biomedicine represents an expression of social power that reflects structures of power and privilege within capitalist society. No one perspective exists in isolation and so the image of biomedicine from any one presents an incomplete understanding. It is the mutually-conditioning interrelations between these ontological spheres that account for biomedicine's ongoing development. Thus, the ontological dissection of biomedicine that follows, with particular emphasis on the period of its formal crystallization in the latter nineteenth and early twentieth century, is intended to deepen our understanding of biomedicine as an analytical concept across the medical social sciences literature.

  4. Spontaneous Arterial Dissection.

    Science.gov (United States)

    Brandt, Tobias; Caplan, Louis

    2001-09-01

    There is no controlled study for the best treatment or management of cervico-cerebral artery dissection (CAD). Rationale initial empiric treatment in acute CAD to prevent secondary embolism is partial thromboplastin time (PTT)-guided anticoagulation by intravenous heparin followed by anticoagulation with warfarin. Carotid surgery for treatment of CAD is not recommended anymore with the possible exception of persisting severe stenosis of the proximal internal carotid artery (ICA). There could be use of carotid angioplasty by balloon dilatation and stenting in selected cases of severe cerebral hemodynamic impairment by bilateral CAD. Duration of secondary prophylaxis by anticoagulation is best guided by Doppler sonography follow-up, and should be continued until normalization of blood flow or until at least 1 year after the vessel is occluded. There is no evidence that pseudoaneurysms increase the risk for embolic complication, and there is no evidence for surgery or continuation of anticoagulation in patients with pseudoaneurysms. Caution should be recommended for exercises that involve excessive head movements (eg, bungee jumping, trampoline jumping, and chiropractic maneuvers). The patient should be informed that recurrent rate is low in nonfamilial cases. Doppler sonography is a low-cost and high-sensitivity method for patients at risk.

  5. Talking about death: implementing peer discussion as a coping mechanism to overcome fears about dissection, death, and dying.

    Science.gov (United States)

    Kotzé, Sanet Henriët; Mole, Calvin Gerald

    2013-01-01

    Many studies have reported on the perceptions of medical students toward dissection. It is important to understand the feelings and symptoms experienced during dissection so that they can be adequately handled. Prior to dissection, first year students are given lectures on aspects of dissection, death and dying, and death rituals in various cultures. Two separate questionnaires, one given during the first week of dissection and another given one month into the program were then completed anonymously by dissection groups. The questions were designed to be open-ended, thereby encouraging group discussion amongst students. The questionnaires were used to determine the perception of students to dissection and to discover if these perceptions change during the dissection program. The first questionnaire revealed that students do experience fears and anxiety prior to and at the beginning of dissection; however, most of these fears dissipated by the time of the second questionnaire. One month into dissection students cited talking to peers as their main coping mechanism and fewer students mentioned emotional detachment from their cadaver as a coping mechanism, as was the case in the first questionnaire. Dissection was perceived as a positive experience by our student cohort and most students cited the main advantage of dissection as the ability to visualize organs in three dimensions. The comprehensive answers received from the students indicated that thorough discussion of feelings amongst peers occurred, introducing students to an important coping mechanism at an early stage of their learning. Copyright © 2012 American Association of Anatomists.

  6. Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.

    Science.gov (United States)

    Tsangaris, E; Klaassen, R; Fernandez, C V; Yanofsky, R; Shereck, E; Champagne, J; Silva, M; Lipton, J H; Brossard, J; Michon, B; Abish, S; Steele, M; Ali, K; Dower, N; Athale, U; Jardine, L; Hand, J P; Odame, I; Canning, P; Allen, C; Carcao, M; Beyene, J; Roifman, C M; Dror, Y

    2011-09-01

    Inherited bone marrow failure syndromes (IBMFSs) often have substantial phenotypic overlap, thus genotyping is often critical for establishing a diagnosis. To determine the genetic characteristics and mutation profiles of IBMFSs, a comprehensive population-based study that prospectively enrols all typical and atypical cases without bias is required. The Canadian Inherited Marrow Failure Study is such a study, and was used to extract clinical and genetic information for patients enrolled up to May 2010. Among the 259 primary patients with IBMFS enrolled in the study, the most prevalent categories were Diamond-Blackfan anaemia (44 patients), Fanconi anaemia (39) and Shwachman-Diamond syndrome (35). The estimated incidence of the primary IBMFSs was 64.5 per 10(6) births, with Fanconi anaemia having the highest incidence (11.4 cases per 10(6) births). A large number of patients (70) had haematological and non-haematological features that did not fulfil the diagnostic criteria of any specific IBMFS category. Disease-causing mutations were identified in 53.5% of the 142 patients tested, and in 16 different genes. Ten novel mutations in SBDS, RPL5, FANCA, FANCG, MPL and G6PT were identified. The most common mutations were nonsense (31 alleles) and splice site (28). Genetic heterogeneity of most IBMFSs was evident; however, the most commonly mutated gene was SBDS, followed by FANCA and RPS19. From this the largest published comprehensive cohort of IBMFSs, it can be concluded that recent advances have led to successful genotyping of about half of the patients. Establishing a genetic diagnosis is still challenging and there is a critical need to develop novel diagnostic tools.

  7. A Comprehensive tRNA Deletion Library Unravels the Genetic Architecture of the tRNA Pool

    Science.gov (United States)

    Bloom-Ackermann, Zohar; Navon, Sivan; Gingold, Hila; Towers, Ruth; Pilpel, Yitzhak; Dahan, Orna

    2014-01-01

    Deciphering the architecture of the tRNA pool is a prime challenge in translation research, as tRNAs govern the efficiency and accuracy of the process. Towards this challenge, we created a systematic tRNA deletion library in Saccharomyces cerevisiae, aimed at dissecting the specific contribution of each tRNA gene to the tRNA pool and to the cell's fitness. By harnessing this resource, we observed that the majority of tRNA deletions show no appreciable phenotype in rich medium, yet under more challenging conditions, additional phenotypes were observed. Robustness to tRNA gene deletion was often facilitated through extensive backup compensation within and between tRNA families. Interestingly, we found that within tRNA families, genes carrying identical anti-codons can contribute differently to the cellular fitness, suggesting the importance of the genomic surrounding to tRNA expression. Characterization of the transcriptome response to deletions of tRNA genes exposed two disparate patterns: in single-copy families, deletions elicited a stress response; in deletions of genes from multi-copy families, expression of the translation machinery increased. Our results uncover the complex architecture of the tRNA pool and pave the way towards complete understanding of their role in cell physiology. PMID:24453985

  8. Autism genetic database (AGD: a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites

    Directory of Open Access Journals (Sweden)

    Talebizadeh Zohreh

    2009-09-01

    Full Text Available Abstract Background Autism is a highly heritable complex neurodevelopmental disorder, therefore identifying its genetic basis has been challenging. To date, numerous susceptibility genes and chromosomal abnormalities have been reported in association with autism, but most discoveries either fail to be replicated or account for a small effect. Thus, in most cases the underlying causative genetic mechanisms are not fully understood. In the present work, the Autism Genetic Database (AGD was developed as a literature-driven, web-based, and easy to access database designed with the aim of creating a comprehensive repository for all the currently reported genes and genomic copy number variations (CNVs associated with autism in order to further facilitate the assessment of these autism susceptibility genetic factors. Description AGD is a relational database that organizes data resulting from exhaustive literature searches for reported susceptibility genes and CNVs associated with autism. Furthermore, genomic information about human fragile sites and noncoding RNAs was also downloaded and parsed from miRBase, snoRNA-LBME-db, piRNABank, and the MIT/ICBP siRNA database. A web client genome browser enables viewing of the features while a web client query tool provides access to more specific information for the features. When applicable, links to external databases including GenBank, PubMed, miRBase, snoRNA-LBME-db, piRNABank, and the MIT siRNA database are provided. Conclusion AGD comprises a comprehensive list of susceptibility genes and copy number variations reported to-date in association with autism, as well as all known human noncoding RNA genes and fragile sites. Such a unique and inclusive autism genetic database will facilitate the evaluation of autism susceptibility factors in relation to known human noncoding RNAs and fragile sites, impacting on human diseases. As a result, this new autism database offers a valuable tool for the research

  9. Effective Therapeutic Intervention and Comprehensive Genetic Analysis of mTOR Signaling in PEComa : A Case Report

    NARCIS (Netherlands)

    Weeber, Fleur; Koudijs, Marco J; Hoogstraat, Marlous; Besselink, Nicolle J M; VAN Lieshout, Stef; Nijman, Isaac J; Cuppen, Edwin; Offerhaus, G Johan; Voest, Emile E

    BACKGROUND/AIM: Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal neoplasms. The exact genetic alterations underlying the pathophysiology of PEComas are largely unknown, although it has been shown that activation of the Mammalian target of rapamycin (mTOR) signaling pathway plays a

  10. A comprehensive study of tumor necrosis factor-alpha genetic polymorphisms, its expression in skin and relation to histopathological features in psoriasis

    Directory of Open Access Journals (Sweden)

    Nikhil N Moorchung

    2015-01-01

    Full Text Available Background: Tumor necrosis factor-alpha (TNFα is an important inflammatory mediator in psoriasis and several genetic polymorphisms of this cytokine have been reported. Majority of studies have focused on the increased G- A polymorphism at the -308 position in psoriasis. There has been no comprehensive study evaluating the genetic polymorphisms, TNFα expression in the skin and histopathology. We are undertaking this study to outline TNFα genetic polymorphisms, its skin expression and histopathological correlation to help determine its role at the genetic and protein level. Materials and Methods : 112 patients of psoriasis and 243 healthy controls were included in this prospective study. 5 ml of peripheral blood was collected to study the TNFα genetic polymorphisms by polymerase chain reaction and restriction fragment length polymorphism analysis. Histopathological analysis of biopsies from the 112 patients were done using visual analogue scale and correlated with the findings. 61 of these cases were analyzed for TNFα expression by immunohistochemistry. The results of study were statistically analyzed using SPSS 13.0 statistical package program. Results: A strong association of TNFα -308 G/A polymorphism in psoriasis cases was detected. The A allele of the TNFα -308 G/A polymorphism occurs rarely in the Indian population, however there is an over representation of this allele in psoriatic patients. There was no association seen between TNFα genotype and histopathological severity of psoriasis. Conclusion: The study emphasized the central role of TNFα in the pathogenesis of psoriasis. TNFα genotyping may be helpful in identifying subjects in whom anti-TNFα therapeutic strategies may be tried.

  11. Brachial plexus endoscopic dissection and correlation with open dissection.

    Science.gov (United States)

    Lafosse, T; Masmejean, E; Bihel, T; Lafosse, L

    2015-12-01

    Shoulder endoscopy is evolving and becoming extra-articular. More and more procedures are taking place in the area of the brachial plexus (BP). We carried out an anatomical study to describe the endoscopic anatomy of the BP and the technique used to dissect and expose the BP endoscopically. Thirteen fresh cadavers were dissected. We first performed an endoscopic dissection of the BP, using classical extra-articular shoulder arthroscopy portals. Through each portal, we dissected as many structures as possible and identified them. We then did an open dissection to corroborate the endoscopic findings and to look for damage to the neighboring structures. In the supraclavicular area, we were able to expose the C5, C6 and C7 roots, and the superior and middle trunks in 11 of 13 specimens through two transtrapezial portals by following the suprascapular nerve. The entire infraclavicular portion of the BP (except the medial cord and its branches) was exposed in 11 of 13 specimens. The approach to the infraclavicular portion of the BP led directly to the lateral and posterior cords, but the axillary artery hid the medial cord. The musculocutaneous nerve was the first nerve encountered when dissecting medially from the anterior aspect of the coracoid process. The axillary nerve was the first nerve encountered when following the anterior border of the subscapularis medially from the posterior aspect of the coracoid process. Knowledge of the endoscopic anatomy of the BP is mandatory to expose and protect this structure while performing advanced arthroscopic shoulder procedures. Copyright © 2015 SFCM. Published by Elsevier Masson SAS. All rights reserved.

  12. Trends in lignin modification: a comprehensive analysis of the effects of genetic manipulations/mutations on lignification and vascular integrity

    Science.gov (United States)

    Anterola, Aldwin M.; Lewis, Norman G.

    2002-01-01

    A comprehensive assessment of lignin configuration in transgenic and mutant plants is long overdue. This review thus undertook the systematic analysis of trends manifested through genetic and mutational manipulations of the various steps associated with monolignol biosynthesis; this included consideration of the downstream effects on organized lignin assembly in the various cell types, on vascular function/integrity, and on plant growth and development. As previously noted for dirigent protein (homologs), distinct and sophisticated monolignol forming metabolic networks were operative in various cell types, tissues and organs, and form the cell-specific guaiacyl (G) and guaiacyl-syringyl (G-S) enriched lignin biopolymers, respectively. Regardless of cell type undergoing lignification, carbon allocation to the different monolignol pools is apparently determined by a combination of phenylalanine availability and cinnamate-4-hydroxylase/"p-coumarate-3-hydroxylase" (C4H/C3H) activities, as revealed by transcriptional and metabolic profiling. Downregulation of either phenylalanine ammonia lyase or cinnamate-4-hydroxylase thus predictably results in reduced lignin levels and impaired vascular integrity, as well as affecting related (phenylpropanoid-dependent) metabolism. Depletion of C3H activity also results in reduced lignin deposition, albeit with the latter being derived only from hydroxyphenyl (H) units, due to both the guaiacyl (G) and syringyl (S) pathways being blocked. Apparently the cells affected are unable to compensate for reduced G/S levels by increasing the amounts of H-components. The downstream metabolic networks for G-lignin enriched formation in both angiosperms and gymnosperms utilize specific cinnamoyl CoA O-methyltransferase (CCOMT), 4-coumarate:CoA ligase (4CL), cinnamoyl CoA reductase (CCR) and cinnamyl alcohol dehydrogenase (CAD) isoforms: however, these steps neither affect carbon allocation nor H/G designations, this being determined by C4H/C3H

  13. Endoluminal treatment of aortic dissection

    Energy Technology Data Exchange (ETDEWEB)

    Chavan, Ajay; Lotz, Joachim; Galanski, Michael [Department of Diagnostic Radiology, Hannover Medical School, Carl Neuberg Strasse 1, 30625, Hannover (Germany); Oelert, Frank; Haverich, Axel; Karck, Matthias [Department of Thoracic and Cardiovascular Surgery, Hannover Medical School, Carl Neuberg Strasse 1, 30625, Hannover (Germany)

    2003-11-01

    Aortic dissection is most often a catastrophic medical emergency which, if untreated, can be potentially fatal. The intention of therapy in patients with aortic dissection is to prevent aortic rupture or aneurysm formation as well as to relieve branch vessel ischaemia. Patients with aortic dissection are often poor candidates for anaesthesia and surgery and the surgical procedure itself is challenging requiring thoracotomy, aortic cross clamping, blood transfusion as well as prolonged hospital stay in some cases. Operative mortality is especially high in patients with critical mesenteric or renal ischaemia. The past decade has experienced the emergence of a number of interventional radiological or minimally invasive techniques which have significantly improved the management of patients with aortic dissection. These include stent grafting for entry site closure to prevent aneurysmatic widening of the false lumen as well as percutaneous techniques such as balloon fenestration of the intimal flap and aortic true lumen stenting to alleviate branch vessel ischaemia. False lumen thrombosis following entry closure with stent grafts has been observed in 86-100% of patients, whereas percutaneous interventions are able to effectively relieve organ ischaemia in approximately 90% of the cases. In the years to come, it is to be expected that these endoluminal techniques will become the method of choice for treating most type-B dissections and will assist in significantly reducing the number of open surgical procedures required for type-A dissections. The intention of this article is to provide an overview of the current status of these endoluminal techniques based on our own experience as well as on a review of the relevant literature. (orig.)

  14. Endoluminal treatment of aortic dissection

    International Nuclear Information System (INIS)

    Chavan, Ajay; Lotz, Joachim; Galanski, Michael; Oelert, Frank; Haverich, Axel; Karck, Matthias

    2003-01-01

    Aortic dissection is most often a catastrophic medical emergency which, if untreated, can be potentially fatal. The intention of therapy in patients with aortic dissection is to prevent aortic rupture or aneurysm formation as well as to relieve branch vessel ischaemia. Patients with aortic dissection are often poor candidates for anaesthesia and surgery and the surgical procedure itself is challenging requiring thoracotomy, aortic cross clamping, blood transfusion as well as prolonged hospital stay in some cases. Operative mortality is especially high in patients with critical mesenteric or renal ischaemia. The past decade has experienced the emergence of a number of interventional radiological or minimally invasive techniques which have significantly improved the management of patients with aortic dissection. These include stent grafting for entry site closure to prevent aneurysmatic widening of the false lumen as well as percutaneous techniques such as balloon fenestration of the intimal flap and aortic true lumen stenting to alleviate branch vessel ischaemia. False lumen thrombosis following entry closure with stent grafts has been observed in 86-100% of patients, whereas percutaneous interventions are able to effectively relieve organ ischaemia in approximately 90% of the cases. In the years to come, it is to be expected that these endoluminal techniques will become the method of choice for treating most type-B dissections and will assist in significantly reducing the number of open surgical procedures required for type-A dissections. The intention of this article is to provide an overview of the current status of these endoluminal techniques based on our own experience as well as on a review of the relevant literature. (orig.)

  15. Virtual reality haptic human dissection.

    Science.gov (United States)

    Needham, Caroline; Wilkinson, Caroline; Soames, Roger

    2011-01-01

    This project aims to create a three-dimensional digital model of the human hand and wrist which can be virtually 'dissected' through a haptic interface. Tissue properties will be added to the various anatomical structures to replicate a realistic look and feel. The project will explore the role of the medical artist and investigate the cross-discipline collaborations required in the field of virtual anatomy. The software will be used to train anatomy students in dissection skills before experience on a real cadaver. The effectiveness of the software will be evaluated and assessed both quantitatively as well as qualitatively.

  16. Comprehensive genetic study of fatty acids helps explain the role of noncoding inflammatory bowel disease associated SNPs and fatty acid metabolism in disease pathogenesis.

    Science.gov (United States)

    Jezernik, Gregor; Potočnik, Uroš

    2018-03-01

    Fatty acids and their derivatives play an important role in inflammation. Diet and genetics influence fatty acid profiles. Abnormalities of fatty acid profiles have been observed in inflammatory bowel diseases (IBD), a group of complex diseases defined by chronic gastrointestinal inflammation. IBD associated fatty acid profile abnormalities were observed independently of nutritional status or disease activity, suggesting a common genetic background. However, no study so far has attempted to look for overlap between IBD loci and fatty acid associated loci or investigate the genetics of fatty acid profiles in IBD. To this end, we conducted a comprehensive genetic study of fatty acid profiles in IBD using iCHIP, a custom microarray platform designed for deep sequencing of immune-mediated disease associated loci. This study identifies 10 loci associated with fatty acid profiles in IBD. The most significant associations were a locus near CBS (p = 7.62 × 10 -8 ) and a locus in LRRK2 (p = 1.4 × 10 -7 ). Of note, this study replicates the FADS gene cluster locus, previously associated with both fatty acid profiles and IBD pathogenesis. Furthermore, we identify 18 carbon chain trans-fatty acids (p = 1.12 × 10 -3 ), total trans-fatty acids (p = 4.49 × 10 -3 ), palmitic acid (p = 5.85 × 10 -3 ) and arachidonic acid (p = 8.58 × 10 -3 ) as significantly associated with IBD pathogenesis. Copyright © 2018 Elsevier Ltd. All rights reserved.

  17. Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing.

    Directory of Open Access Journals (Sweden)

    Xiaochen Yang

    Full Text Available The genetic etiology of hereditary breast cancer has not been fully elucidated. Although germline mutations of high-penetrance genes such as BRCA1/2 are implicated in development of hereditary breast cancers, at least half of all breast cancer families are not linked to these genes. To identify a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population, we performed an analysis of germline mutations in 2,165 coding exons of 152 genes associated with hereditary cancer using next-generation sequencing (NGS in 99 breast cancer patients from families of cancer patients regardless of cancer types. Forty-two deleterious germline mutations were identified in 21 genes of 34 patients, including 18 (18.2% BRCA1 or BRCA2 mutations, 3 (3% TP53 mutations, 5 (5.1% DNA mismatch repair gene mutations, 1 (1% CDH1 mutation, 6 (6.1% Fanconi anemia pathway gene mutations, and 9 (9.1% mutations in other genes. Of seven patients who carried mutations in more than one gene, 4 were BRCA1/2 mutation carriers, and their average onset age was much younger than patients with only BRCA1/2 mutations. Almost all identified high-penetrance gene mutations in those families fulfill the typical phenotypes of hereditary cancer syndromes listed in the National Comprehensive Cancer Network (NCCN guidelines, except two TP53 and three mismatch repair gene mutations. Furthermore, functional studies of MSH3 germline mutations confirmed the association between MSH3 mutation and tumorigenesis, and segregation analysis suggested antagonism between BRCA1 and MSH3. We also identified a lot of low-penetrance gene mutations. Although the clinical significance of those newly identified low-penetrance gene mutations has not been fully appreciated yet, these new findings do provide valuable epidemiological information for the future studies. Together, these findings highlight the importance of genetic testing based on NCCN guidelines and a multi-gene analysis

  18. Immunostaining of dissected zebrafish embryonic heart.

    Science.gov (United States)

    Yang, Jingchun; Xu, Xiaolei

    2012-01-10

    Zebrafish embryo becomes a popular in vivo vertebrate model for studying cardiac development and human heart diseases due to its advantageous embryology and genetics. About 100-200 embryos are readily available every week from a single pair of adult fish. The transparent embryos that develop ex utero make them ideal for assessing cardiac defects. The expression of any gene can be manipulated via morpholino technology or RNA injection. Moreover, forward genetic screens have already generated a list of mutants that affect different perspectives of cardiogenesis. Whole mount immunostaining is an important technique in this animal model to reveal the expression pattern of the targeted protein to a particular tissue. However, high resolution images that can reveal cellular or subcellular structures have been difficult, mainly due to the physical location of the heart and the poor penetration of the antibodies. Here, we present a method to address these bottlenecks by dissecting heart first and then conducting the staining process on the surface of a microscope slide. To prevent the loss of small heart samples and to facilitate solution handling, we restricted the heart samples within a circle on the surface of the microscope slides drawn by an immEdge pen. After the staining, the fluorescence signals can be directly observed by a compound microscope. Our new method significantly improves the penetration for antibodies, since a heart from an embryonic fish only consists of few cell layers. High quality images from intact hearts can be obtained within a much reduced procession time for zebrafish embryos aged from day 2 to day 6. Our method can be potentially extended to stain other organs dissected from either zebrafish or other small animals. Copyright © 2012 Journal of Visualized Experiments

  19. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.

    Science.gov (United States)

    Stenson, Peter D; Mort, Matthew; Ball, Edward V; Shaw, Katy; Phillips, Andrew; Cooper, David N

    2014-01-01

    The Human Gene Mutation Database (HGMD®) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. By June 2013, the database contained over 141,000 different lesions detected in over 5,700 different genes, with new mutation entries currently accumulating at a rate exceeding 10,000 per annum. HGMD was originally established in 1996 for the scientific study of mutational mechanisms in human genes. However, it has since acquired a much broader utility as a central unified disease-oriented mutation repository utilized by human molecular geneticists, genome scientists, molecular biologists, clinicians and genetic counsellors as well as by those specializing in biopharmaceuticals, bioinformatics and personalized genomics. The public version of HGMD (http://www.hgmd.org) is freely available to registered users from academic institutions/non-profit organizations whilst the subscription version (HGMD Professional) is available to academic, clinical and commercial users under license via BIOBASE GmbH.

  20. Animal Rights Activism Threatens Dissection.

    Science.gov (United States)

    Holden, Constance

    1990-01-01

    Discussed is the movement against the use of dissections in science laboratories. Examples of protests across the United States are included. Compared is the plight of using animals in a biology classroom and the demise of the teaching of evolution in some areas. (KR)

  1. Dissecting spontaneous cerebrospinal fluid collection.

    Science.gov (United States)

    Champagne, Pierre-Olivier; Decarie, Jean-Claude; Crevier, Louis; Weil, Alexander G

    2018-04-01

    Hydrocephalus is a common condition in the pediatric population known to have many causes and presentation patterns. We report from the analysis of 2 cases the existence of a new complication of pediatric hydrocephalus. Naming this entity "dissecting intraparenchymal cerebrospinal fluid collection", we advance a hypothesis regarding its pathophysiology and discuss its clinical implications and management. Copyright © 2018 Elsevier Ltd. All rights reserved.

  2. Combined M-FISH and CGH analysis allows comprehensive description of genetic alterations in neuroblastoma cell lines.

    Science.gov (United States)

    Van Roy, N; Van Limbergen, H; Vandesompele, J; Van Gele, M; Poppe, B; Salwen, H; Laureys, G; Manoel, N; De Paepe, A; Speleman, F

    2001-10-01

    Cancer cell lines are essential gene discovery tools and have often served as models in genetic and functional studies of particular tumor types. One of the future challenges is comparison and interpretation of gene expression data with the available knowledge on the genomic abnormalities in these cell lines. In this context, accurate description of these genomic abnormalities is required. Here, we show that a combination of M-FISH with banding analysis, standard FISH, and CGH allowed a detailed description of the genetic alterations in 16 neuroblastoma cell lines. In total, 14 cryptic chromosome rearrangements were detected, including a balanced t(2;4)(p24.3;q34.3) translocation in cell line NBL-S, with the 2p24 breakpoint located at about 40 kb from MYCN. The chromosomal origin of 22 marker chromosomes and 41 cytogenetically undefined translocated segments was determined. Chromosome arm 2 short arm translocations were observed in six cell lines (38%) with and five (31%) without MYCN amplification, leading to partial chromosome arm 2p gain in all but one cell line and loss of material in the various partner chromosomes, including 1p and 11q. These 2p gains were often masked in the GGH profiles due to MYCN amplification. The commonly overrepresented region was chromosome segment 2pter-2p22, which contains the MYCN gene, and five out of eleven 2p breakpoints clustered to the interface of chromosome bands 2p16 and 2p21. In neuroblastoma cell line SJNB-12, with double minutes (dmins) but no MYCN amplification, the dmins were shown to be derived from 16q22-q23 sequences. The ATBF1 gene, an AT-binding transcription factor involved in normal neurogenesis and located at 16q22.2, was shown to be present in the amplicon. This is the first report describing the possible implication of ATBF1 in neuroblastoma cells. We conclude that a combined approach of M-FISH, cytogenetics, and CGH allowed a more complete and accurate description of the genetic alterations occurring in the

  3. Draft genome of the medaka fish: a comprehensive resource for medaka developmental genetics and vertebrate evolutionary biology.

    Science.gov (United States)

    Takeda, Hiroyuki

    2008-06-01

    The medaka Oryzias latipes is a small egg-laying freshwater teleost, and has become an excellent model system for developmental genetics and evolutionary biology. The medaka genome is relatively small in size, approximately 800 Mb, and the genome sequencing project was recently completed by Japanese research groups, providing a high-quality draft genome sequence of the inbred Hd-rR strain of medaka. In this review, I present an overview of the medaka genome project including genome resources, followed by specific findings obtained with the medaka draft genome. In particular, I focus on the analysis that was done by taking advantage of the medaka system, such as the sex chromosome differentiation and the regional history of medaka species using single nucleotide polymorphisms as genomic markers.

  4. [Modern treatment of type B dissections

    DEFF Research Database (Denmark)

    Klitfod, L.; Baekgaard, N.; Just, S.

    2008-01-01

    Rapid classification is essential in the management of aortic dissections, as Type A dissections require surgery, while the optimal treatment of Type B dissections is controversial. Medical treatment with antihypertensive medication and analgesics has so far been the main treatment of uncomplicated...... Type B dissections, while surgery has been reserved for complications and persistent pain in spite of medical treatment. Endovascular techniques are less invasive than open repair and show promising early results Udgivelsesdato: 2008/9/8...

  5. Genetics

    International Nuclear Information System (INIS)

    Hubitschek, H.E.

    1975-01-01

    Progress is reported on the following research projects: genetic effects of high LET radiations; genetic regulation, alteration, and repair; chromosome replication and the division cycle of Escherichia coli; effects of radioisotope decay in the DNA of microorganisms; initiation and termination of DNA replication in Bacillus subtilis; mutagenesis in mouse myeloma cells; lethal and mutagenic effects of near-uv radiation; effect of 8-methoxypsoralen on photodynamic lethality and mutagenicity in Escherichia coli; DNA repair of the lethal effects of far-uv; and near uv irradiation of bacterial cells

  6. Dissecting the within-Africa ancestry of populations of African descent in the Americas.

    Science.gov (United States)

    Stefflova, Klara; Dulik, Matthew C; Barnholtz-Sloan, Jill S; Pai, Athma A; Walker, Amy H; Rebbeck, Timothy R

    2011-01-06

    The ancestry of African-descended Americans is known to be drawn from three distinct populations: African, European, and Native American. While many studies consider this continental admixture, few account for the genetically distinct sources of ancestry within Africa--the continent with the highest genetic variation. Here, we dissect the within-Africa genetic ancestry of various populations of the Americas self-identified as having primarily African ancestry using uniparentally inherited mitochondrial DNA. We first confirmed that our results obtained using uniparentally-derived group admixture estimates are correlated with the average autosomal-derived individual admixture estimates (hence are relevant to genomic ancestry) by assessing continental admixture using both types of markers (mtDNA and Y-chromosome vs. ancestry informative markers). We then focused on the within-Africa maternal ancestry, mining our comprehensive database of published mtDNA variation (∼5800 individuals from 143 African populations) that helped us thoroughly dissect the African mtDNA pool. Using this well-defined African mtDNA variation, we quantified the relative contributions of maternal genetic ancestry from multiple W/WC/SW/SE (West to South East) African populations to the different pools of today's African-descended Americans of North and South America and the Caribbean. Our analysis revealed that both continental admixture and within-Africa admixture may be critical to achieving an adequate understanding of the ancestry of African-descended Americans. While continental ancestry reflects gender-specific admixture processes influenced by different socio-historical practices in the Americas, the within-Africa maternal ancestry reflects the diverse colonial histories of the slave trade. We have confirmed that there is a genetic thread connecting Africa and the Americas, where each colonial system supplied their colonies in the Americas with slaves from African colonies they controlled

  7. Type A dissection following endovascular repair of type B dissection

    International Nuclear Information System (INIS)

    Juszkat, R.; Zabicki, M.; Jemielity, M.; Buczkowski, P.; Urbanowicz, T.

    2009-01-01

    Background: We present a patient, who was treated with thoracic stentgraft implantation, because of acute type B aortic dissection (according to Stanford classification). The endovascular procedure was performed without any complications. Case Report: The patient was discharged in the 3 rd postprocedural day and was transferred to another hospital for further recovery. Nine days after the procedure, the patient was readmitted in cardiogenic shock to the Cardiac Surgery Department. The patient was immediately operated on, after dissection of the ascending aorta and pericardial tamponade had been diagnosed in transthoracic echocardiography. Conclusions: Total replacement of the aortic arch and its ascending part was performed successfully. The surgery was carried out in deep hypothermia with temporary circulatory arrest. The patient was discharged from the Cardiac Surgery Unit 15 days after the surgery, and transferred to another unit for further recovery. (authors)

  8. Chronic type B aortic dissection in association with Hemolyticuremic syndrome in a child

    OpenAIRE

    Gera, D. N.; Ghuge, P. P.; Gandhi, S.; Vanikar, A. V.; Shrimali, J. D.; Kute, V. B.; Trivedi, H. L.

    2013-01-01

    Aortic dissection (AD) is a potentially life-threatening medical emergency usually encountered in the elderly. Here, we report a 9-year-old child who was incidentally detected to have asymptomatic chronic type B dissecting aneurysm of aorta when he presented with relapse of Hemolytic uremic syndrome (HUS) without any genetic abnormalities like Marfan or Ehler-Danlos syndrome. To the best of our knowledge, this is the first case of AD associated with HUS in a child without any known associated...

  9. Comprehensive genetic assessment of the human embryo: can empiric application of microarray comparative genomic hybridization reduce multiple gestation rate by single fresh blastocyst transfer?

    Science.gov (United States)

    Sills, Eric Scott; Yang, Zhihong; Walsh, David J; Salem, Shala A

    2012-09-01

    The unacceptable multiple gestation rate currently associated with in vitro fertilization (IVF) would be substantially alleviated if the routine practice of transferring more than one embryo were reconsidered. While transferring a single embryo is an effective method to reduce the clinical problem of multiple gestation, rigid adherence to this approach has been criticized for negatively impacting clinical pregnancy success in IVF. In general, single embryo transfer is viewed cautiously by IVF patients although greater acceptance would result from a more effective embryo selection method. Selection of one embryo for fresh transfer on the basis of chromosomal normalcy should achieve the dual objective of maintaining satisfactory clinical pregnancy rates and minimizing the multiple gestation problem, because embryo aneuploidy is a major contributing factor in implantation failure and miscarriage in IVF. The initial techniques for preimplantation genetic screening unfortunately lacked sufficient sensitivity and did not yield the expected results in IVF. However, newer molecular genetic methods could be incorporated with standard IVF to bring the goal of single embryo transfer within reach. Aiming to make multiple embryo transfers obsolete and unnecessary, and recognizing that array comparative genomic hybridization (aCGH) will typically require an additional 12 h of laboratory time to complete, we propose adopting aCGH for mainstream use in clinical IVF practice. As aCGH technology continues to develop and becomes increasingly available at lower cost, it may soon be considered unusual for IVF laboratories to select a single embryo for fresh transfer without regard to its chromosomal competency. In this report, we provide a rationale supporting aCGH as the preferred methodology to provide a comprehensive genetic assessment of the single embryo before fresh transfer in IVF. The logistics and cost of integrating aCGH with IVF to enable fresh embryo transfer are also

  10. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  11. Comprehensive genetic assessment of a functional TLR9 promoter polymorphism: no replicable association with asthma or asthma-related phenotypes

    Directory of Open Access Journals (Sweden)

    Celedón Juan C

    2011-02-01

    Full Text Available Abstract Background Prior studies suggest a role for a variant (rs5743836 in the promoter of toll-like receptor 9 (TLR9 in asthma and other inflammatory diseases. We performed detailed genetic association studies of the functional variant rs5743836 with asthma susceptibility and asthma-related phenotypes in three independent cohorts. Methods rs5743836 was genotyped in two family-based cohorts of children with asthma and a case-control study of adult asthmatics. Association analyses were performed using chi square, family-based and population-based testing. A luciferase assay was performed to investigate whether rs5743836 genotype influences TLR9 promoter activity. Results Contrary to prior reports, rs5743836 was not associated with asthma in any of the three cohorts. Marginally significant associations were found with FEV1 and FVC (p = 0.003 and p = 0.008, respectively in one of the family-based cohorts, but these associations were not significant after correcting for multiple comparisons. Higher promoter activity of the CC genotype was demonstrated by luciferase assay, confirming the functional importance of this variant. Conclusion Although rs5743836 confers regulatory effects on TLR9 transcription, this variant does not appear to be an important asthma-susceptibility locus.

  12. Spatiotemporally regulated proteolysis to dissect the role of vegetative proteins during Bacillus subtilis sporulation: cell-specific requirement of σH and σA.

    Science.gov (United States)

    Riley, Eammon P; Trinquier, Aude; Reilly, Madeline L; Durchon, Marine; Perera, Varahenage R; Pogliano, Kit; Lopez-Garrido, Javier

    2018-04-01

    Sporulation in Bacillus subtilis is a paradigm of bacterial development, which involves the interaction between a larger mother cell and a smaller forespore. The mother cell and the forespore activate different genetic programs, leading to the production of sporulation-specific proteins. A critical gap in our understanding of sporulation is how vegetative proteins, made before sporulation initiation, contribute to spore formation. Here we present a system, spatiotemporally regulated proteolysis (STRP), which enables the rapid, developmentally regulated degradation of target proteins, thereby providing a suitable method to dissect the cell- and developmental stage-specific role of vegetative proteins. STRP has been used to dissect the role of two major vegetative sigma factors, σ H and σ A , during sporulation. The results suggest that σ H is only required in predivisional cells, where it is essential for sporulation initiation, but that it is dispensable during subsequent steps of spore formation. However, evidence has been provided that σ A plays different roles in the mother cell, where it replenishes housekeeping functions, and in the forespore, where it plays an unexpected role in promoting spore germination and outgrowth. Altogether, the results demonstrate that STRP has the potential to provide a comprehensive molecular dissection of every stage of sporulation, germination and outgrowth. © 2018 John Wiley & Sons Ltd.

  13. Dynamic CT in dissecting aortic aneurysm

    International Nuclear Information System (INIS)

    Fujita, Nobuyuki; Matsuoka, Yosuke; Mizuo, Hideyo; Shirato, Hiroki; Irie, Goro

    1985-01-01

    especially about the branching of major vessels Eight cases of aortic dissection were analysed to evaluate detectability of the branching of major vessels from a ture or false lumen, by dynamic CT. Although recognition of the branching is easy when the direct continuity to a dissected lumen is demonstrated, but without visualization of direct continuity or with no information about dissected lumens, it is sometimes difficult or leads us to misdiagnosis. The diagnostic accuracy is 100% when direct continuity to a dissected lumen is demonstrated, or dynamic CT revealed branching pattern distinctly. Dynamic CT is useful for a diagnosis of dissecting aneurysm and branching pattern of major vessels. (author)

  14. Spontaneous Dissection of the Superior Mesenteric Artery

    International Nuclear Information System (INIS)

    Sheldon, Patrick J.; Esther, James B.; Sheldon, Elana L.; Sparks, Steven R.; Brophy, David P.; Oglevie, Steven B.

    2001-01-01

    Spontaneous dissection of the superior mesenteric artery (SMA) is a rare occurrence, especially when not associated with aortic dissection. Currently, only 28 cases appear to have been reported. Due to the scarcity of cases in the literature, the natural history of isolated, spontaneous SMA dissection is unclear. CT has been reported to be useful for the initial diagnosis of SMA dissection [2-5]. We present two recent cases of spontaneous SMA dissection in which enhanced spiral CT was instrumental in following the disease process and guiding clinical decision making

  15. [Pregnancy and coronary artery dissection].

    Science.gov (United States)

    Martínez-Quintana, Efrén; Rodríguez-González, Fayna

    2015-01-01

    Acute myocardial infarction during pregnancy is associated with high maternal and fetal mortality. Coronary atherosclerosis is the most common cause due to an increase in the age of the patients and the association with cardiovascular risk factors such as smoking, hypertension, diabetes mellitus, preeclampsia, and the existence of family history of coronary disease. However, thrombosis, coronary dissection or coronary vasospasms are other causes that may justify it. We report the case of a 33 weeks pregnant first-time mother, without cardiovascular risk factors, who presented an acute coronary event in the context of atherosclerotic disease and coronary dissection after percutaneous coronary intervention. Copyright © 2014 Sociedad Española de Arteriosclerosis. Published by Elsevier España. All rights reserved.

  16. Comprehensive Care

    Science.gov (United States)

    ... Comprehensive Care Share this page Facebook Twitter Email Comprehensive Care Understand the importance of comprehensive MS care ... In this article A complex disease requires a comprehensive approach Today multiple sclerosis (MS) is not a ...

  17. Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform.

    Science.gov (United States)

    Lim, Byung Chan; Lee, Seungbok; Shin, Jong-Yeon; Kim, Jong-Il; Hwang, Hee; Kim, Ki Joong; Hwang, Yong Seung; Seo, Jeong-Sun; Chae, Jong Hee

    2011-11-01

    Duchenne muscular dystrophy or Becker muscular dystrophy might be a suitable candidate disease for application of next-generation sequencing in the genetic diagnosis because the complex mutational spectrum and the large size of the dystrophin gene require two or more analytical methods and have a high cost. The authors tested whether large deletions/duplications or small mutations, such as point mutations or short insertions/deletions of the dystrophin gene, could be predicted accurately in a single platform using next-generation sequencing technology. A custom solution-based target enrichment kit was designed to capture whole genomic regions of the dystrophin gene and other muscular-dystrophy-related genes. A multiplexing strategy, wherein four differently bar-coded samples were captured and sequenced together in a single lane of the Illumina Genome Analyser, was applied. The study subjects were 25 16 with deficient dystrophin expression without a large deletion/duplication and 9 with a known large deletion/duplication. Nearly 100% of the exonic region of the dystrophin gene was covered by at least eight reads with a mean read depth of 107. Pathogenic small mutations were identified in 15 of the 16 patients without a large deletion/duplication. Using these 16 patients as the standard, the authors' method accurately predicted the deleted or duplicated exons in the 9 patients with known mutations. Inclusion of non-coding regions and paired-end sequence analysis enabled accurate identification by increasing the read depth and providing information about the breakpoint junction. The current method has an advantage for the genetic diagnosis of Duchenne muscular dystrophy and Becker muscular dystrophy wherein a comprehensive mutational search may be feasible using a single platform.

  18. New paradigms in the management of acute type B aortic dissection.

    Science.gov (United States)

    Parisi, Rosario; Secco, Gioel Gabrio; Fattori, Rossella

    2015-11-01

    Type B aortic dissection is a relatively uncommon and multifaceted disease, whose management is ongoing debated. Its wide range of clinical presentations and anatomical features hamper the early identification and medical management. In the past few years, the introduction of endovascular techniques opened new paradigms in comprehension and management of aortic diseases. Aim of this review is to discuss contemporary therapeutic approaches of acute type B aortic dissections highlighting the growing role of thoracic endovascular aortic repair (TEVAR) in focusing its complex physiopathology. Prompt medical therapy followed by endovascular repair should be considered as the gold standard in complicated acute type B aortic dissection. Moreover, recent findings also suggest a potential benefit in case of uncomplicated cases. Management of acute type B aortic dissection is progressively shifting into endovascular approach. However, further studies are warranted to define the optimal treatment strategy in each subset of patients and anatomical features.

  19. Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH.

    Directory of Open Access Journals (Sweden)

    Shin Hayashi

    Full Text Available The CASK gene (Xp11.4 is highly expressed in the mammalian nervous system and plays several roles in neural development and synaptic function. Loss-of-function mutations of CASK are associated with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH, especially in females. Here, we present a comprehensive investigation of 41 MICPCH patients, analyzed by mutational search of CASK and screening of candidate genes using an SNP array, targeted resequencing and whole-exome sequencing (WES. In total, we identified causative or candidate genomic aberrations in 37 of the 41 cases (90.2%. CASK aberrations including a rare mosaic mutation in a male patient, were found in 32 cases, and a mutation in ITPR1, another known gene in which mutations are causative for MICPCH, was found in one case. We also found aberrations involving genes other than CASK, such as HDAC2, MARCKS, and possibly HS3ST5, which may be associated with MICPCH. Moreover, the targeted resequencing screening detected heterozygous variants in RELN in two cases, of uncertain pathogenicity, and WES analysis suggested that concurrent mutations of both DYNC1H1 and DCTN1 in one case could lead to MICPCH. Our results not only identified the etiology of MICPCH in nearly all the investigated patients but also suggest that MICPCH is a genetically heterogeneous condition, in which CASK inactivating mutations appear to account for the majority of cases.

  20. Chronic type B aortic dissection in association with Hemolyticuremic syndrome in a child.

    Science.gov (United States)

    Gera, D N; Ghuge, P P; Gandhi, S; Vanikar, A V; Shrimali, J D; Kute, V B; Trivedi, H L

    2013-11-01

    Aortic dissection (AD) is a potentially life-threatening medical emergency usually encountered in the elderly. Here, we report a 9-year-old child who was incidentally detected to have asymptomatic chronic type B dissecting aneurysm of aorta when he presented with relapse of Hemolytic uremic syndrome (HUS) without any genetic abnormalities like Marfan or Ehler-Danlos syndrome. To the best of our knowledge, this is the first case of AD associated with HUS in a child without any known associated genetic or inherited risk factors.

  1. Chronic type B aortic dissection in association with Hemolyticuremic syndrome in a child

    Directory of Open Access Journals (Sweden)

    D N Gera

    2013-01-01

    Full Text Available Aortic dissection (AD is a potentially life-threatening medical emergency usually encountered in the elderly. Here, we report a 9-year-old child who was incidentally detected to have asymptomatic chronic type B dissecting aneurysm of aorta when he presented with relapse of Hemolytic uremic syndrome (HUS without any genetic abnormalities like Marfan or Ehler-Danlos syndrome. To the best of our knowledge, this is the first case of AD associated with HUS in a child without any known associated genetic or inherited risk factors.

  2. Spontaneous coronary dissection: case report

    OpenAIRE

    Couto, Gustavo J. Ventura; Deslandes, Alexandre de O.; Santos, Paulo César de Souza; Cruz, Alexandre de Araújo; Saraiva, Roberto Santos

    2007-01-01

    O objetivo do trabalho é demonstrar o caso de um homem de 62 anos, com quadro de dissecção coronariana espontânea, localizada em 1/3 inicial de coronária circunflexa esquerda, tratado cirurgicamente com revascularização miocárdica. A operação realizada com sucesso demonstra, nesse caso, ser o único meio possível de cura.The purpose of the paper is to demonstrate the case of a 62-year-old man, with spontaneous coronary dissection of the left circumflex artery, treated surgically by myocardial ...

  3. Evaluation of Educator & Student Use of & Attitudes toward Dissection & Dissection Alternatives

    Science.gov (United States)

    Osenkowski, Pamela; Green, Che; Tjaden, Anne; Cunniff, Peggy

    2015-01-01

    Animal dissection has been routinely practiced in American biology classrooms for decades. With technological advancements, more states adopting student choice measures, and increased awareness about ethical concerns surrounding dissection, many useful dissection alternatives have been developed. To understand the current use of animal dissection…

  4. Educational Paradigm Change to Dissect to Prosect or to Game (Simulation) That Is the Question?

    Science.gov (United States)

    Ross, Cory

    2015-01-01

    There is no question that a thorough knowledge and understanding of the gross architecture of the human body underlies sound medical practice and, therefore, comprises an early curricular goal. Thus, the exploration of palpable human anatomy in the dissection laboratory addresses the pivotal goal of establishing a comprehension of the three…

  5. Medical Students' Attitudinal Changes towards Cadaver Dissection ...

    African Journals Online (AJOL)

    Background: Recently, not only the medical school curriculum but also medical students' attitude towards cadaver-based learning of anatomy has changed. This investigation is therefore designed to analyse students' attitudes towards human cadaveric dissection before and after exposure to dissection. Methods: A ...

  6. Aortic Dissection Type A in Alpine Skiers

    Directory of Open Access Journals (Sweden)

    Thomas Schachner

    2013-01-01

    Full Text Available Patients and Methods. 140 patients with aortic dissection type A were admitted for cardiac surgery. Seventy-seven patients experienced their dissection in the winter season (from November to April. We analyzed cases of ascending aortic dissection associated with alpine skiing. Results. In 17 patients we found skiing-related aortic dissections. Skiers were taller (180 (172–200 cm versus 175 (157–191 cm, and heavier (90 (68–125 kg versus 80 (45–110 kg, than nonskiers. An extension of aortic dissection into the aortic arch, the descending thoracic aorta, and the abdominal aorta was found in 91%, 74%, and 69%, respectively, with no significant difference between skiers and nonskiers. Skiers experienced RCA ostium dissection requiring CABG in 17.6% while this was true for 5% of nonskiers (. Hospital mortality of skiers was 6% versus 13% in nonskiers (. The skiers live at an altitude of 170 (0–853 m.a.s.l. and experience their dissection at 1602 (1185–3105; m.a.s.l. In 82% symptom start was during recreational skiing without any trauma. Conclusion. Skiing associated aortic dissection type A is usually nontraumatic. The persons affected live at low altitudes and practice an outdoor sport at unusual high altitude at cold temperatures. Postoperative outcome is good.

  7. Aortic Dissection Type A in Alpine Skiers

    Science.gov (United States)

    Schachner, Thomas; Fischler, Nikolaus; Dumfarth, Julia; Bonaros, Nikolaos; Krapf, Christoph; Schobersberger, Wolfgang; Grimm, Michael

    2013-01-01

    Patients and Methods. 140 patients with aortic dissection type A were admitted for cardiac surgery. Seventy-seven patients experienced their dissection in the winter season (from November to April). We analyzed cases of ascending aortic dissection associated with alpine skiing. Results. In 17 patients we found skiing-related aortic dissections. Skiers were taller (180 (172–200) cm versus 175 (157–191) cm, P = 0.008) and heavier (90 (68–125) kg versus 80 (45–110) kg, P = 0.002) than nonskiers. An extension of aortic dissection into the aortic arch, the descending thoracic aorta, and the abdominal aorta was found in 91%, 74%, and 69%, respectively, with no significant difference between skiers and nonskiers. Skiers experienced RCA ostium dissection requiring CABG in 17.6% while this was true for 5% of nonskiers (P = 0.086). Hospital mortality of skiers was 6% versus 13% in nonskiers (P = 0.399). The skiers live at an altitude of 170 (0–853) m.a.s.l. and experience their dissection at 1602 (1185–3105; P < 0.001) m.a.s.l. In 82% symptom start was during recreational skiing without any trauma. Conclusion. Skiing associated aortic dissection type A is usually nontraumatic. The persons affected live at low altitudes and practice an outdoor sport at unusual high altitude at cold temperatures. Postoperative outcome is good. PMID:23971024

  8. Beyond Dissection: Innovative Tools for Biology Education.

    Science.gov (United States)

    Larson, Sandra, Ed.

    This catalog lists resources available for classroom use in teaching about anatomy and physiology which are alternatives to dissection. The entries are provided under three main categories: (1) Whole Animal Dissection/Vivisection; (2) Animal Organ or System Anatomy and Physiology; and (3) Other, including animal behavior, biotechnology,…

  9. Quality of life after planned neck dissection

    International Nuclear Information System (INIS)

    Iwae, Shigemichi; Hirayama, Yuji; Komatsu, Hirokazu

    2009-01-01

    We evaluated the effect of planned neck dissection (PND) after concurrent chemoradiotherapy (CCRT) on quality of life (QOL) by using a self-administered neck dissection questionnaire and an arm abduction test. Subjects are fourteen patients who had undergone CCRT followed by planned selective neck dissection for the treatment of mesopharyngeal and hypopharyngeal cancer. The findings of the survey were compared with thirty-two patients who had undergone CCRT alone. Patients without PND had better scores on measures of pain, constriction, numbness and appearance of the neck, but had no advantage about arm abduction. After PND, the patients who had dissected dominant hand side had lower satisfaction compared with those who had dissected non-dominant hand side. (author)

  10. [Ultrasound dissection in laparoscopic cholecystectomy].

    Science.gov (United States)

    Horstmann, R; Kern, M; Joosten, U; Hohlbach, G

    1993-01-01

    An ultrasound dissector especially developed for laparoscopic surgery was used during laparoscopic cholecystectomy on 34 patients. The ultrasound power, the volume of suction and irrigation could be determined individually at the generator and activated during the operation with a foot pedal. With the dissector it was possible to fragmentate, emulgate and aspirate simultaneously fat tissue as well as infected edematous structures. The cystic artery and cystic duct, small vessels, lymphatic and connective tissue were not damaged. Therefore this system seems to be excellent for the preparation of Calot's trigonum and blunt dissection of the gallbladder out of its bed, particularly in fatty, acute or chronic infected tissue. No complications were observed within the peri- and postoperative period.

  11. Dissecting the host response to a gamma-herpesvirus

    DEFF Research Database (Denmark)

    Doherty, P C; Christensen, Jan Pravsgaard; Belz, G T

    2001-01-01

    The murine gamma-herpesvirus 68 (MHV-68) provides a unique experimental model for dissecting immunity to large DNA viruses that persist in B lymphocytes. The analysis is greatly facilitated by the availability of genetically disrupted (-/-) mice that lack key host-response elements, and by the fact...... cells, which is apparently MHC independent, could represent some sort of 'smoke screen' used by MHV-68 to subvert immunity. Although MHV-68 is neither Epstein-Barr virus nor human herpesvirus-8, the results generated from this system suggest possibilities that may usefully be addressed with these human...

  12. Impact of Genetic Counseling and Connexin-26 and Connexin-30 Testing on Deaf Identity and Comprehension of Genetic Test Results in a Sample of Deaf Adults: A Prospective, Longitudinal Study

    Science.gov (United States)

    Palmer, Christina G. S.; Boudreault, Patrick; Baldwin, Erin E.; Sinsheimer, Janet S.

    2014-01-01

    Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community. This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants' deaf identity and understanding of their genetic test results. Connexin-26 and Connexin-30 genetic testing was offered to participants in the context of linguistically and culturally appropriate genetic counseling. Questionnaire data collected from 209 deaf adults at four time points (baseline, immediately following pre-test genetic counseling, 1-month following genetic test result disclosure, and 6-months after result disclosure) were analyzed. Four deaf identity orientations (hearing, marginal, immersion, bicultural) were evaluated using subscales of the Deaf Identity Development Scale-Revised. We found evidence that participants understood their specific genetic test results following genetic counseling, but found no evidence of change in deaf identity based on genetic counseling or their genetic test results. This study demonstrated that culturally and linguistically appropriate genetic counseling can improve deaf clients' understanding of genetic test results, and the formation of deaf identity was not directly related to genetic counseling or Connexin-26 and Connexin-30 genetic test results. PMID:25375116

  13. Mutants dissecting development and behaviour in drosophila

    International Nuclear Information System (INIS)

    Joshi, Adita; Chandrashekaran, Shanti; Sharma, R.P.

    2005-01-01

    We have traced in this paper the progress in Drosophila genetics research from the 1960s, at the IARI, spearheaded by the visionary insight of M. S. Swaminathan. The work started with the study of indirect effect of radiation and the synergistic interaction of physical and chemical mutagens on chromosomal and genetic changes. This paved the way for the study of single gene mutants in dissecting developmental and behavioural processes. New genes discovered by us have been shown to encode conserved cell signalling molecules controlling developmental and behavioural pathways. With the complete sequencing of the Drosophila genome, in the year 2000, mounting evidence for the homology between Drosophila and human genes controlling genetic disorders became available. This has led to the fly becoming an indispensable tool for studying human diseases as well as a model to test for drugs and pharmaceuticals against human diseases and complex behavioural processes. For example wingless in Drosophila belongs to the conserved Wnt gene family and aberrant WNT signalling is linked to a range of human diseases, most notably cancer. Inhibition as well as activation of WNT signalling form the basis of an effective therapy for some cancers as well as several other clinical conditions. Recent experiments have shown that WNTs might also normally participate in self-renewal, proliferation or differentiation of stem cells and altering WNT signalling might be beneficial to the use of stem cells for therapeutic means. Likewise, the stambhA mutant of Drosophila which was discovered for its temperature-dependent paralytic behaviour is the fly homologue of Phospholipase Cβ. Phospholipase C mediated G protein signalling plays a central role in vital processes controlling epilepsy, vision, taste, and olfaction in animals. Proteins of the G-signalling pathway are of intense research interest since many human diseases involve defects in G-protein signalling pathways. In fact, approximately 50

  14. The genetic architecture of leaf number and its genetic relationship to flowering time in maize.

    Science.gov (United States)

    Li, Dan; Wang, Xufeng; Zhang, Xiangbo; Chen, Qiuyue; Xu, Guanghui; Xu, Dingyi; Wang, Chenglong; Liang, Yameng; Wu, Lishuan; Huang, Cheng; Tian, Jinge; Wu, Yaoyao; Tian, Feng

    2016-04-01

    The number of leaves and their distributions on plants are critical factors determining plant architecture in maize (Zea mays), and leaf number is frequently used as a measure of flowering time, a trait that is key to local environmental adaptation. Here, using a large set of 866 maize-teosinte BC2 S3 recombinant inbred lines genotyped by using 19,838 single nucleotide polymorphism markers, we conducted a comprehensive genetic dissection to assess the genetic architecture of leaf number and its genetic relationship to flowering time. We demonstrated that the two components of total leaf number, the number of leaves above (LA) and below (LB) the primary ear, were under relatively independent genetic control and might be subject to differential directional selection during maize domestication and improvement. Furthermore, we revealed that flowering time and leaf number are commonly regulated at a moderate level. The pleiotropy of the genes ZCN8, dlf1 and ZmCCT on leaf number and flowering time were validated by near-isogenic line analysis. Through fine mapping, qLA1-1, a major-effect locus that specifically affects LA, was delimited to a region with severe recombination suppression derived from teosinte. This study provides important insights into the genetic basis of traits affecting plant architecture and adaptation. The genetic independence of LA from LB enables the optimization of leaf number for ideal plant architecture breeding in maize. © 2015 The Authors. New Phytologist © 2015 New Phytologist Trust.

  15. Perceptions of cadaveric dissection in anatomy teaching.

    Science.gov (United States)

    Naz, Saima; Nazir, Ghazala; Iram, Samia; Mohammad, Malik; Umair; Qari, Iftikhar Hussain; Mohammad, Shaheen

    2011-01-01

    Anatomy professors world over are lamenting about medical students' lack of interest in dissections and its diminishing utilisation in medical studies. The objective of our study was to find out the reasons why some of the Pakistani medical students were avoiding dissections. We conducted this study in 5 medical colleges of Pakistan from Dec 2010-Oct 2011. Questionnaires were prepared and administered to more than 500 Pakistani medical students, at least 6 months after their first cadaver dissecting session. Mostly 1st and 2nd year medical students participated in this study. Around 43% students have actually performed dissections in some form, whereas around 57% had never touched the cadaver. Further evaluation of these results revealed that out of 57% of students, 45% avoided dissection due to bad smell of formaldehyde, 37% due to moral/ethical grounds, 22% due to low motivation and respect of human body, 19.4% due to anxiety, 18.6% due to religious reason, 16% due to fear, asthma and emotional reaction, 9.4% due to toxic chemical, 8.6% due to laziness and 7% due to nightmares. In spite of availability of required number of cadavers in all 5 medical colleges and a clear realisation amongst the students that dissecting cadaver is an effective way of learning anatomy; majority of students were not very keen and had therefore not performed dissection even once.

  16. Animal Rights Groups Target High School Dissection.

    Science.gov (United States)

    Trotter, Andrew

    1992-01-01

    Two groups leading the charge against dissection are People for the Ethical Treatment of Animals (PETA) and the Student Action Corps for Animals (SACA). Protests by student and community members remain the movement's strongest weapon. (MLF)

  17. Dissecting aortic aneurysm in maintenance hemodialysis patients

    Directory of Open Access Journals (Sweden)

    Ounissi M

    2009-01-01

    Full Text Available The dissecting aortic aneurysm (DAA is a rare pathology that may result in fatal outcome. We report follow up of three cases of DAA patients undergoing maintenance hemo-dialysis who were managed conservatively.

  18. Spontaneous aortic dissecting hematoma in two dogs.

    Science.gov (United States)

    Boulineau, Theresa Marie; Andrews-Jones, Lydia; Van Alstine, William

    2005-09-01

    This report describes 2 cases of spontaneous aortic dissecting hematoma in young Border Collie and Border Collie crossbred dogs. Histology was performed in one of the cases involving an unusual splitting of the elastin present within the wall of the aorta, consistent with elastin dysplasia as described in Marfan syndrome in humans. The first case involved a young purebred Border Collie that died suddenly and the second case involved a Border Collie crossbred dog that died after a 1-month history of seizures. Gross lesions included pericardial tamponade with dissection of the ascending aorta in the former case and thoracic cavity hemorrhage, mediastinal hematoma, and aortic dissection in the latter. Histologic lesions in the case of the Border Collie crossbred dog included a dissecting hematoma of the ascending aorta with elastin dysplasia and right axillary arterial intimal proliferation.

  19. CT diagnosis of acute aortic dissection

    International Nuclear Information System (INIS)

    Ogawa, Noriko; Kobayashi, Takeshi

    1989-01-01

    Sixteen (47.5%) of 35 patients with acute aortic dissection showed a non-opacified crescent in the aorta on an initial contrast CT. Seven of these 16 patients underwent cineangiography soon after the initial CT, and in all 7 patients, neither an intimal tear nor an intimal flap was obtained. All but one of above 16 patients were followed by CT. Mean duration of follow-up was 9.6 months. In 10 of 15 patients with non-opacified false lumen, the false lumen remained non-opacified until the last examination. Moreover, in 6 of these 10 patients, the false lumen shrunk, and in the other 3, it disappeared completely on follow-up CT. On the other hand, in remaining 5 of these 15 patients who were initially diagnosed to have non-opacified false lumen, the false lumen became opacified and enlarged in size on follow-up CT performed in the first 14 weeks. Moreover, in 4 of these 5 patients, the false lumen became opacified in the only first 6 weeks. No matter how intensive care should be paid at least for the first 6 weeks, it seems that patients with aortic dissection which have non-opacified false lumen had good prognosis in comparison to patients with ordinary aortic dissections which have opacified false lumen. We believe aortic dissection with non-opacified false lumen may consist of two type of aortic dissection, one has no intimal tear, the other has some intimal tears and a thrombosed false lumen. In conclusion, CT is the most useful modality in diagnosing acute aortic dissection. The reasons are the incidence of acute aortic dissection with non-opacified false lumen was high, patients with non-opacified false lumen had good prognosis, and it was difficult to diagnose aortic dissection with non-opacified false lumen by conventional cineangiography and/or DSA. (author)

  20. Counter Traction Makes Endoscopic Submucosal Dissection Easier

    OpenAIRE

    Oyama, Tsuneo

    2012-01-01

    Poor counter traction and poor field of vision make endoscopic submucosal dissection (ESD) difficult. Good counter traction allows dissections to be performed more quickly and safely. Position change, which utilizes gravity, is the simplest method to create a clear field of vision. It is useful especially for esophageal and colon ESD. The second easiest method is clip with line method. Counter traction made by clip with line accomplishes the creation of a clear field of vision and suitable co...

  1. Recurrent post-partum coronary artery dissection

    Directory of Open Access Journals (Sweden)

    Resnic Frederic S

    2010-10-01

    Full Text Available Abstract Coronary artery dissection is a rare but well-described cause for myocardial infarction during the post-partum period. Dissection of multiple coronary arteries is even less frequent. Here we present a case of recurrent post-partum coronary artery dissections. This unusual presentation poses unique problems for management. A 35 year-old female, gravida 3 para 2, presented with myocardial infarction 9 weeks and 3 days post-partum. Cardiac catheterization demonstrated left anterior descending (LAD dissection but an otherwise normal coronary anatomy. The lesion was treated with four everolimus eluting stents. Initially the patient made an unremarkable recovery until ventricular fibrillation arrest occurred on the following day. Unsynchronized cardioversion restored a normal sinus rhythm and repeat catheterization revealed new right coronary artery (RCA dissection. A wire was passed distally, but it was unclear whether this was through the true or false lumen and no stents could be placed. However, improvement of distal RCA perfusion was noted on angiogram. Despite failure of interventional therapy the patient was therefore treated conservatively. Early operation after myocardial infarction has a significantly elevated risk of mortality and the initial dissection had occurred within 24 hours. This strategy proved successful as follow-up transthoracic echocardiography after four months demonstrated a preserved left ventricular ejection fraction of 55-60% without regional wall motion abnormalities. The patient remained asymptomatic from a cardiac point of view.

  2. Magnetic resonance diagnosis of aortic dissection

    International Nuclear Information System (INIS)

    Mukohara, Nobuhiko; Yoshida, Yutaka; Nakamura, Kazuo

    1986-01-01

    Magnetic resonance imaging (MRI) was performed in thirty-one patients with aortic dissection to evaluate its usefulness in diagnosing the site of communicating orifice between the true and false lumens and the presence of retrograde dissection. 1. MRI revealed the site of the entry as a defect in the intimal flap in the images of 12 of 15 patients (80 %). 2. The site of the communicating orifice between the true and false lumens in the abdominal aorta could be determined in six of eight patients (75 %). 3. MRI diagnosis of retrograde dissection was successful in three patients. 4. Cross-sectional analysis of the abdominal aorta based on the location of the true lumen revealed that the celiac and superior mesenteric arteries tended to arise from the true lumen when the latter was situated in the anterior part of the abdominal aorta. The right and left renal arteries arose from the true lumen when it was positioned anterolaterally. In conclusion, MRI was a useful diagnostic method for aortic dissection, especially for determining the site of entry in the thoracic aorta. The changes in signal intensity in the false lumen provided useful information for locating the communicating orifice between the true and false lumens and for diagnosis of retrograde dissection. Cross-sectional analysis of dissection in the abdominal aorta was useful for predicting the branching of the main arteries from the true or false lumen. (author)

  3. The Effect of Animal Dissections on Student Acquisition of Knowledge of and Attitudes toward the Animals Dissected.

    Science.gov (United States)

    McCollum, Terry L.

    A conflict exists over the use of animals in the classroom. One aspect of this use involved the dissection of animals. Animal protection advocates report that dissections constitute abuse of the animals dissected. The advocates state that what is learned by dissection could be more effectively learned by other means. Some science educators state…

  4. Evaluating dissection in the gross anatomy course: Correlation between quality of laboratory dissection and students outcomes.

    Science.gov (United States)

    Nwachukwu, Chika; Lachman, Nirusha; Pawlina, Wojciech

    2015-01-01

    Anatomy learned by active exploration through dissection has many proven benefits including improvement of anatomic knowledge. Decreased laboratory time may affect the quality of dissection and ultimately lower student performance in anatomy translating to lower knowledge acquisition. The aim of this study was to determine whether the quality of students' dissection in teams correlates with their performance in the gross anatomy course. Quality of dissections for each team enrolled in a gross anatomy course at Mayo Medical School was evaluated biweekly using a five-point rubric based on course learning objectives. Assessment of anatomic knowledge was based on sequential laboratory practice practical examination scores, achievements on daily audience response system (ARS) quizzes, and final practical, written, and National Board of Medical Examiners(®) (NBME(®) ) Gross Anatomy and Embryology Subject Examinations. Twelve teams comprising 48 students were included in the study. There was a positive correlation between dissection quality and practice practical examination score (R = 0.83) and a negative correlation between dissection quality and ARS quizzes (R = -0.985). Dissection teams with a passing score on their dissection evaluations (>70%) performed better on their final examinations. Based on an end of course survey, students agreed that dissection evaluations should continue to be a part of the course. This study showed that better quality of dissection was associated with higher scores on practice practical examinations, final practical, written, and NBME examinations. The study demonstrated a positive correlation between dissection evaluations, accompanied by formative feedback during the course, and higher scores on final course assessments. © 2014 American Association of Anatomists.

  5. Identification and Management of Iatrogenic Aortocoronary Dissection

    Directory of Open Access Journals (Sweden)

    Shao-Ping Nie, MD, PhD, FESC, FSCAI

    2016-05-01

    Full Text Available Iatrogenic aortocoronary dissection (IACD is a rare but potentially life-threatening complication during coronary catheterizations. Although the incidence was relatively low, the dissection often leads to procedure failure with increased risk of myocardial infarction and death. IACD is mainly caused by disruption of intima at the ostia of left or right coronary artery during interventional procedures, and appears as luminal filling defects or persistence of contrast (“extraluminal cap” or intimal tear outside the coronary lumen. Dissection could disseminate antegradely and lead to subtotal or total occlusion of the coronary lumen. Similarly, it could extend retrogradely into the sinus of Valsalva and cusp, or even the ascending aorta, aortic arch, or descending aorta, leading to hemodynamic collapse. Early identification and prompt management is crucial to the prognosis of patients with IACD. Immediate bail-out stenting should be performed as rapidly as possible in most cases of severe dissection, even when significant propagation has already occurred. Surgery should only be considered when stenting failed to seal the dissection and the patients had hemodynamic compromise.

  6. GENETIC ANALYSIS OF ABSCISIC ACID BIOSYNTHESIS

    Energy Technology Data Exchange (ETDEWEB)

    MCCARTY D R

    2012-01-10

    The carotenoid cleavage dioxygenases (CCD) catalyze synthesis of a variety of apo-carotenoid secondary metabolites in plants, animals and bacteria. In plants, the reaction catalyzed by the 11, 12, 9-cis-epoxy carotenoid dioxygenase (NCED) is the first committed and key regulated step in synthesis of the plant hormone, abscisic acid (ABA). ABA is a key regulator of plant stress responses and has critical functions in normal root and seed development. The molecular mechanisms responsible for developmental control of ABA synthesis in plant tissues are poorly understood. Five of the nine CCD genes present in the Arabidopsis genome encode NCED's involved in control of ABA synthesis in the plant. This project is focused on functional analysis of these five AtNCED genes as a key to understanding developmental regulation of ABA synthesis and dissecting the role of ABA in plant development. For this purpose, the project developed a comprehensive set of gene knockouts in the AtNCED genes that facilitate genetic dissection of ABA synthesis. These mutants were used in combination with key molecular tools to address the following specific objectives: (1) the role of ABA synthesis in root development; (2) developmental control of ABA synthesis in seeds; (3) analysis of ATNCED over-expressers; (4) preliminary crystallography of the maize VP14 protein.

  7. Dissecting and Targeting Latent Metastasis

    Science.gov (United States)

    2014-09-01

    Option in Brain Metastasis Manuel Valiente,1 Anna C. Obenauf,1 Xin Jin,1 Qing Chen,1 Xiang H.-F. Zhang,1,8 Derek J. Lee,1 Jamie E. Chaft,2 Mark G. Kris,2...of poor response to tamoxifen therapy in recurrent breast cancer. J. Natl. Cancer Inst. 87, 751–756. Francia, G., Cruz -Munoz, W., Man, S., Xu, P... Manuel Valiente1, Xin Jin1†, Ekrem Emrah Er1, Ruzeen Patwa1, Ke Xu3 and Joan Massagué1 1 Cancer Biology and Genetics Program, 2 Department of

  8. Renal Infarction from Type B Aortic Dissection

    Directory of Open Access Journals (Sweden)

    Marit Tweet

    2017-07-01

    Full Text Available History of present illness: A 69-year-old-female with a medical history of hypertension presented to the emergency department (ED complaining of sudden onset of lower back and abdominal pain. Eight hours prior to presentation she reported turning to grab something on another counter and felt a sudden onset sharp pain in her lower back. She began to notice ill-defined abdominal pain, although she denied any shortness of breath, chest pain, numbness, weakness, or urologic symptoms. Her vital signs on presentation to the ED were temperature 36.5˚C, blood pressure 143/88, heart rate 84, respiratory rate 14, and oxygen saturation 93% on room air. On arrival, the patient was in significant discomfort and was rolling on the bed due to pain. Although she appeared to be in moderate distress she had minimal, if any, tenderness on abdominal exam, and only mild left lower back tenderness to palpation. This disconnect between the patient’s apparent discomfort and the lack of physical exam findings prompted the ordering of a computed tomography angiography (CTA of the abdomen/pelvis with greatest suspicion for abdominal aortic aneurysm. Significant findings: Initial abdominal images demonstrated a dissection flap; therefore, a CTA of the chest was also obtained. These images revealed a Stanford type B aortic dissection beginning just distal to the left subclavian artery and extending to the origin of the inferior mesenteric artery. The right renal artery arose from the true lumen of the dissection while the left renal artery arose from the false lumen. This case is interesting as imaging shows the lack of perfusion to the left kidney, residing in the retroperitoneum, which correlates with her non-descript abdominal and left flank pain. Discussion: Aortic dissection is defined as a tear within the wall of the aorta that allows blood to track between intima and media layers. A dissection is classified as Stanford Type A if it involves any portion of the

  9. Diagnostic imaging of acute aortic dissection

    International Nuclear Information System (INIS)

    Ohya, Tohru; Kumazaki, Tatsuo

    1991-01-01

    One hundred and nineteen patients with aortic dissection who underwent diagnostic imaging were reviewed and angiographic findings as well as those of CT were analysed. Thirty eight cases (43.1%) had non-contrast opacified false lumen, the type of which we call 'thrombosed type aortic dissection'. A comparative study of the thrombosed type with the patent type of false lumens was made particularly from the stand point of the characteristic diagnostic imagings (CT and angiography). At the same time, the pitfalls of these imagings in thrombosed type aortic dissection were studied. At the onset the average age of thrombosed type was 62.3 years old, while that of the patent type was 57.3. A statistical significance between the two groups was p<0.05. Thrombosed type in all cases was caused by atherosclerosis, whereas patent type was caused by the Marfan's syndrome in 11 cases. Other clinical findings, such as initial symptoms and blood pressure revealed no significant differences between the two groups. Pre-contrast CT in acute thrombosed type aortic dissection showed 'hyperdense crescent sign' in 89.4%. However, in 3 cases with thrombosed type in which the pre-contrast CT showed 'hyperdense crescent sign' contrast-enhanced CT detected no clear evidence of aortic dissection in the same site. This was due to obscurity induced by contrast medium. Angiographic findings of thrombosed type were classified into 3 groups: normal type, stenosed true lumen type and ulcer-like projection type. The incidence of normal type was estimated to be 48.4%, whereas stenosed true lumen type was 24.2% and ulcer-like projection was 27.7%. The present study concluded that thrombosed type is not rare in acute aortic dissection and contrast-enhanced CT as well as pre-contrast CT, is of great value in diagnosing thrombosed type. 'Hyperdense crescent sign' in pre-contrast CT is characteristic of intramural hematoma. (author)

  10. An electronic instructor for gross anatomy dissection.

    Science.gov (United States)

    Josephson, Eleanor M; Moore, Larry J

    2006-01-01

    Gross anatomy is time consuming to teach and to learn. Because the process of dissection takes up so much student time, assistance in the form of an in-lab instructional DVD program might improve student performance. The DVD could be viewed with a portable device by individual dissection groups at their tables. Groups could dissect at their own pace, with access to step-by-step demonstrations and answers to frequently asked anatomical questions. We created an instructional DVD program demonstrating dissection of the canine ventral neck and thoracic limb. The effect on student exam scores of using the DVD versus not using it was measured in a controlled, two-sample study using incoming first-year veterinary students as volunteers. Volunteers were told the study was of two different dissection methods; the DVD was not specifically mentioned until after the students were separated into two groups (Blue/DVD group and Orange/No DVD group), and then only to volunteers in the Blue group. Except for the DVD, the two groups had the same resources. The difference in scores on an exam given after a single dissection period did not differ sufficiently to conclude that DVD use raised the mean score; however, 73% of the DVD group scored 60% or higher, while only 38% of the No DVD group scored 60% or higher. The difference in mean scores overall was 2.3 points out of a possible 49, suggesting that the DVD helped students, especially those with lower scores, to earn two to three more points than they would have otherwise.

  11. Genetic dissection of the maize (Zea mays L.) MAMP response

    Science.gov (United States)

    Microbe-associated molecular patterns (MAMPs) are highly conserved molecules commonly found in microbes which can be recognized by plant pattern recognition receptors (PRRs). Recognition triggers a suite of responses including production of reactive oxygen species (ROS) and nitric oxide (NO) and ex...

  12. Genetic dissection of chlorophyll content at different growth stages in ...

    Indian Academy of Sciences (India)

    57 were registered by Henan in 2006 (Hai and Kang 2007) and by state (China) ... autumn of 2006, the lines were grown in a plot with four 2-m rows spaced 25 ..... 1255–1264. Wang F. H., Wang G. X., Li X. Y., Huang J. L. and Zheng J. K. 2008.

  13. Quantitative trait loci mapping and genetic dissection for lint ...

    Indian Academy of Sciences (India)

    2014-08-01

    Aug 1, 2014 ... hirsutum, as parents to construct a mapping populations in upland ... that could be candidate markers affecting cotton fibre development. .... F2:3 family line seeds were harvested. ... long). All activities were performed as per the normal mana- ... times, and the QTL with a LOD value of more than the LOD.

  14. Genetic dissection reveals effects of interaction between high ...

    Indian Academy of Sciences (India)

    2013-04-15

    Apr 15, 2013 ... Wheat quality is mainly influenced by protein and starch, which are responsible for ... Starch contains two components: amylose and amy- lopectin. .... (Voorrips 2002). The QTL analysis was performed and the main effect QTL.

  15. Dissection of genetic architecture of grain chalk using NIR spectroscopy

    Science.gov (United States)

    Chalk is a major quality characteristic that causes grain breakage during milling and loss of crop value. In this study, we sought to elucidate the quantitatively inherited grain chalk trait in rice and to conduct genome-wide association mapping to identify SNPs and candidate genes associated with ...

  16. Genetic Dissection of Tropodithietic Acid Biosynthesis by Marine Roseobacters

    DEFF Research Database (Denmark)

    Geng, Haifeng; Bruhn, Jesper Bartholin; Nielsen, Kristian Fog

    2008-01-01

    by the bacteria, and mutation in any one of these results in a loss of antibiotic activity (Tda(-)) and pigment production. Unexpectedly, six of the genes, referred to as tdaA-F, could not be found on the annotated TM1040 genome and were instead located on a previously unidentified plasmid (ca. 130 kb; pSTM3......The symbiotic association between the roseobacter Silicibacter sp. strain TM1040 and the dinoflagellate Pfiesteria piscicida involves bacterial chemotaxis to dinoflagellate-produced dimethylsulfoniopropionate (DMSP), DMSP demethylation, and ultimately a biofilm on the surface of the host. Biofilm...... formation is coincident with the production of an antibiotic and a yellow-brown pigment. In this report, we demonstrate that the antibiotic is a sulfur-containing compound, tropodithietic acid (TDA). Using random transposon insertion mutagenesis, 12 genes were identified as critical for TDA biosynthesis...

  17. Molecular dissection of white pine genetic resistance to Cronartium ribicola

    Science.gov (United States)

    Jun-Jun Liu; Richard Sniezko

    2011-01-01

    Pinus monticola (Dougl. ex D. Don.) maintains a complex defence system that detects white pine blister rust pathogen (Cronartium ribicola J.C.Fisch.) and activates resistance responses. A thorough understanding of how it functions at the molecular level would provide us new strategies for creating forest trees with durable disease resistance. Our research focuses on...

  18. Coronary artery dissection following chest trauma

    Directory of Open Access Journals (Sweden)

    Manoj K Agarwala

    2016-01-01

    Full Text Available Chest trauma has a high rate of mortality. Coronary dissection causing myocardial infarction (MI following blunt chest trauma is rare. We describe the case of an anterior MI following blunt chest trauma. A 39-year-old male was received in our hospital following a motorcycle accident. The patient was asymptomatic before the accident. The patient underwent craniotomy for evacuation of hematoma. He developed severe chest pain and an electrocardiogram (ECG revealed anterior ST segment elevation following surgery. Acute coronary event was medically managed; subsequently, coronary angiogram was performed that showed dissection in the left anterior coronary artery, which was stented.

  19. Molecular dissection of Norrie disease.

    Science.gov (United States)

    Berger, W

    1998-01-01

    Norrie disease (ND) is a severe form of congenital blindness accompanied by mental retardation and/or deafness in at least one third of the patients. This article summarizes advances in the molecular genetic analysis of this disease during the last 13 years, including mapping and cloning of the human gene and the generation and characterization of a mouse model. Genetic linkage studies and physical mapping strategies have assigned the ND locus to the proximal short arm of the human X chromosome. The identification of chromosomal rearrangements in several patients, such as microdeletions, enabled the isolation of the ND gene by a positional cloning approach. Numerous point mutations in this gene have been identified in three distinct clinical entities: (1) ND, (2) familial and sporadic exudative vitreoretinopathy, and (3) retinopathy of prematurity. The gene encodes a relatively small protein, consisting of 133 amino acids. The function of the gene product is yet unknown, although homologies with known proteins and molecular modelling data suggest a role in the regulation of cell interaction or differentiation processes. A mouse model has been generated to shed more light on early pathogenic events involved in ND and allelic disorders. The mouse homologous protein is highly identical (94%) to the human polypeptide. The gene is expressed in the neuronal layers of the mouse retina, the cerebellum and olfactory epithelium. Mutant mice show snowflake-like opacities within the vitreous, dysgenesis of the ganglion cell layer and occasionally degeneration of photoreceptor cells. The mouse phenotype does not include phthisis bulbi and, overall, resembles a mild form of ND. Electrophysiological studies revealed a severely altered electroretinogram b-wave. These results suggest a primary defect in the inner neuronal layers of the retina. Defects in the vitreous and photoreceptor cell layer are most likely secondary effects. Further histological, functional and molecular

  20. Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

    Science.gov (United States)

    Feliubadaló, Lídia; Lopez-Doriga, Adriana; Castellsagué, Ester; del Valle, Jesús; Menéndez, Mireia; Tornero, Eva; Montes, Eva; Cuesta, Raquel; Gómez, Carolina; Campos, Olga; Pineda, Marta; González, Sara; Moreno, Victor; Brunet, Joan; Blanco, Ignacio; Serra, Eduard; Capellá, Gabriel; Lázaro, Conxi

    2013-01-01

    Next-generation sequencing (NGS) is changing genetic diagnosis due to its huge sequencing capacity and cost-effectiveness. The aim of this study was to develop an NGS-based workflow for routine diagnostics for hereditary breast and ovarian cancer syndrome (HBOCS), to improve genetic testing for BRCA1 and BRCA2. A NGS-based workflow was designed using BRCA MASTR kit amplicon libraries followed by GS Junior pyrosequencing. Data analysis combined Variant Identification Pipeline freely available software and ad hoc R scripts, including a cascade of filters to generate coverage and variant calling reports. A BRCA homopolymer assay was performed in parallel. A research scheme was designed in two parts. A Training Set of 28 DNA samples containing 23 unique pathogenic mutations and 213 other variants (33 unique) was used. The workflow was validated in a set of 14 samples from HBOCS families in parallel with the current diagnostic workflow (Validation Set). The NGS-based workflow developed permitted the identification of all pathogenic mutations and genetic variants, including those located in or close to homopolymers. The use of NGS for detecting copy-number alterations was also investigated. The workflow meets the sensitivity and specificity requirements for the genetic diagnosis of HBOCS and improves on the cost-effectiveness of current approaches. PMID:23249957

  1. Dissecting the hypothalamic pathways that underlie innate behaviors.

    Science.gov (United States)

    Zha, Xi; Xu, Xiaohong

    2015-12-01

    Many complex behaviors that do not require learning are displayed and are termed innate. Although traditionally the subject matter of ethology, innate behaviors offer a unique entry point for neuroscientists to dissect the physiological mechanisms governing complex behaviors. Since the last century, converging evidence has implicated the hypothalamus as the central brain area that controls innate behaviors. Recent studies using cutting-edge tools have revealed that genetically-defined populations of neurons residing in distinct hypothalamic nuclei and their associated neural pathways regulate the initiation and maintenance of diverse behaviors including feeding, sleep, aggression, and parental care. Here, we review the newly-defined hypothalamic pathways that regulate each innate behavior. In addition, emerging general principles of the neural control of complex behaviors are discussed.

  2. Acute Type II Aortic Dissection with Severe Aortic Regurgitation and Chronic Descending Aortic Dissection in Pregnant Patient with Marfan Syndrome.

    Science.gov (United States)

    Lee, Seok-Soo; Jung, Tae-Eun; Lee, Dong Hyup

    2012-12-01

    Aortic dilatation and dissection are severe complications during pregnancy that can be fatal to both the mother and the fetus. The risks of these complications are especially high in pregnant patients with Marfan syndrome; however, incidents of descending aortic dissection are very rare. This case report involves a successful Bentall procedure for and recovery from a rare aortic dissection in a pregnant Marfan patient who developed acute type II aortic dissection with severe aortic regurgitation and chronic descending aortic dissection immediately after Cesarean section. Regular follow-up will be needed to monitor the descending aortic dissection.

  3. Global Distribution of Dissected Duricrust on Mars

    Science.gov (United States)

    Mustard, J. F.; Cooper, C. D.

    2000-01-01

    Evidence for dissected duricrust was identified in high resolution MOC images. Analysis of all available images was used to map the global distribution of this terrain. It is apparently restricted to two latitude bands: 30-60 deg. N and 30-60 deg. S.

  4. Partial axillary dissection in early breast cancer

    African Journals Online (AJOL)

    Tarek Abdel Halim El-Fayoumi

    ORIGINAL ARTICLE. Partial axillary dissection in early breast cancer. Tarek Abdel Halim El-Fayoumi *. Department of General Surgery, Faculty of Medicine, Alexandria University, Egypt. Received 16 October 2012; accepted 7 January 2013. Available online 7 March 2013. KEYWORDS. Breast cancer;. Axillary lymph nodes.

  5. Dissection in Pre-college Education

    OpenAIRE

    Buyukmihci, NC

    2017-01-01

    This paper discusses the educational and ethical issues surrounding dissection of non-human animals in pre-college education. It argues that this exercise has no benefits to students that could possibly be outweighed by the death of healthy animals killed for this purpose.

  6. Squid Dissection: From Pen to Ink.

    Science.gov (United States)

    Brown, Cindy; Kisiel, Jim

    2003-01-01

    Introduces students to dissection, which is an important part of scientific discovery. Students not only gain an understanding of the anatomy of a squid, but also develop a sense of responsibility and respect for the animal that they are using as a learning tool. (Author/SOE)

  7. Shoulder complaints after nerve sparing neck dissections

    NARCIS (Netherlands)

    van Wilgen, CP; Dijkstra, PU; van der Laan, BFAM; Plukker, JTM; Roodenburg, JLN

    The purpose of the study was to analyse the prevalence of shoulder complaints after nerve sparing neck dissection at least I year after surgery, and to analyse the influence of radiation therapy on shoulder complaints. Patients were interviewed for shoulder complaints, and patients filled out the

  8. Thrombosed false channel in acute aortic dissections

    International Nuclear Information System (INIS)

    Alerci, M.; Dore, R.; Kluzer, A.; Digiulio, G.; D'Andrea, F.; De Agostini, A.

    1987-01-01

    Three cases are reported of acute dissection with complete thrombosis of the false channel, which is a very uncommonevent in DeBakey's I and II type aortic dissections. The 3 patients entered hospital because of severe thoracic pain without any ECG sign of myocardial infarction. Emergency CT showed evidence of pericardial effusion suggesting hemopericardium, enlargement of the ascending aorta and a peripheral semilunar filling defect which caused a slight deformation of the true channel. On precontrast scans, only one case showed inward displacement of peripheral calcifications and high-density aortic wall. No tipical signs of aortic dissection were reported, expect in the first patient - where a double contrast filled lumen, separated by an intimal flap was seen. CT findings are individually discussed. It is emphasized that in all patients more than one CT sign was present at a time. The correct evaluation of these signs together with the clinacal data could lead to the right diagnosis of aortic dissection in spite of the lack of a f???

  9. Electrocautery causes more ischemic peritoneal tissue damage than ultrasonic dissection.

    NARCIS (Netherlands)

    Broek, R.P.G ten; Wilbers, J.; Goor, H. van

    2011-01-01

    BACKGROUND: Minimizing peritoneal tissue injury during abdominal surgery has the benefit of reducing postoperative inflammatory response, pain, and adhesion formation. Ultrasonic dissection seems to reduce tissue damage. This study aimed to compare electrocautery and ultrasonic dissection in terms

  10. Acute headache and persistent headache attributed to cervical artery dissection

    DEFF Research Database (Denmark)

    Schytz, Henrik W; Ashina, Messoud; Magyari, Melinda

    2014-01-01

    for Headache or facial or neck pain attributed to cervical carotid or vertebral artery dissection or Headache attributed to intracranial arterial dissection. Six months after dissection five of 19 patients still reported persistent headache attributed to dissection. The study demonstrates that the ICHD......The criteria for headache attributed to cervical artery dissection have been changed in the new third edition of the International Classification of Headache Disorders (ICHD-III beta). We have retrospectively investigated 19 patients diagnosed from 2001 to 2006 with cervical artery dissection......-III beta criteria for cervical artery dissection are useful for classifying patients at the first encounter. We show for the first time that persistent headache attributed to arterial dissection is frequent....

  11. DISSECT: a new mnemonic-based approach to the categorization of aortic dissection.

    Science.gov (United States)

    Dake, M D; Thompson, M; van Sambeek, M; Vermassen, F; Morales, J P

    2013-08-01

    Classification systems for aortic dissection provide important guides to clinical decision-making, but the relevance of traditional categorization schemes is being questioned in an era when endovascular techniques are assuming a growing role in the management of this frequently complex and catastrophic entity. In recognition of the expanding range of interventional therapies now used as alternatives to conventional treatment approaches, the Working Group on Aortic Diseases of the DEFINE Project developed a categorization system that features the specific anatomic and clinical manifestations of the disease process that are most relevant to contemporary decision-making. The DISSECT classification system is a mnemonic-based approach to the evaluation of aortic dissection. It guides clinicians through an assessment of six critical characteristics that facilitate optimal communication of the most salient details that currently influence the selection of a therapeutic option, including those findings that are key when considering an endovascular procedure, but are not taken into account by the DeBakey or Stanford categorization schemes. The six features of aortic dissection include: duration of disease; intimal tear location; size of the dissected aorta; segmental extent of aortic involvement; clinical complications of the dissection, and thrombus within the aortic false lumen. In current clinical practice, endovascular therapy is increasingly considered as an alternative to medical management or open surgical repair in select cases of type B aortic dissection. Currently, endovascular aortic repair is not used for patients with type A aortic dissection, but catheter-based techniques directed at peripheral branch vessel ischemia that may complicate type A dissection are considered valuable adjunctive interventions, when indicated. The use of a new system for categorization of aortic dissection, DISSECT, addresses the shortcomings of well-known established schemes devised

  12. Partial axillary dissection in early breast cancer

    Directory of Open Access Journals (Sweden)

    Tarek Abdel Halim El-Fayoumi

    2013-09-01

    Full Text Available Background: In order to reduce the probability of later clinical involvement of the axilla and at establishing a sound basis for adjuvant treatment planning axillary dissection is an important operative procedure. So, partial axillary dissection has been applied to decrease the morbidity and postoperative axillary complications.Aim of the work was to study the reliability of partial axillary lymph node dissection in patients with breast carcinoma with clinically negative axilla. Methods: Eighteen patients underwent modified radical mastectomy, while the other two patients who were fulfilling the criteria for conservative breast surgery underwent lumpectomy. All patients did complete axillary lymph nodes dissection. Intraoperative leveling of the axilla was performed and level I axillary lymph nodes were identified according to their relation to pectoralis minor muscle; then they were subjected to intraoperative pathological examination by frozen section examination followed by complete axillary clearance. Then post operative histopathological examination of the tumor and all lymph nodes was done. Results: By intraoperative pathological examination; five patients (25% were found positive for malignant invasion, while 15 patients (75% were pathologically free. While paraffin section showed six patients (30% with malignant invasion, and 14 patients (70% were pathologically free. There was a false negative rate of 5% in level I axillary lymph nodes by intraoperative pathological examination which was positive for metastasis by paraffin section that revealed microinvasion in one lymph node out of 8 in level I. Only two cases out of 20 were found positive for metastasis in level II and III. Conclusion: Partial axillary lymph node dissection is a minimally invasive, feasible and sufficient technique that can predict the axillary lymph node status. KEYWORDS: Breast cancer, Axillary lymph nodes clearance

  13. Emotional response of undergraduates to cadaver dissection.

    Science.gov (United States)

    Wisenden, Patricia A; Budke, Katherine J; Klemetson, Chelsea J; Kurtti, Tana R; Patel, Chandi M; Schwantz, Trenda L; Wisenden, Brian D

    2018-03-01

    The most effective way to learn human anatomy is through cadaver dissection. Historically, cadaver dissection has been the provenance of professional schools. Increasingly, cadaver-based courses in human anatomy are shifting to the undergraduate level, which creates both problems and opportunities because of differences between undergraduate and graduate student populations. Anxiety associated with dissecting cadavers can create a barrier to learning, and ultimately, entry into the health and medical sciences for some demographic subpopulations of undergraduates. We surveyed 76 students in 2007 and 51 students in 2009 at four times in the semester to investigate the timing and sociodemographic predictors of anxiety over cadaver dissection. We followed this with a second survey of 44 students in 2014 to test the effect of humanization of cadaver donors (providing information about donor occupation and cause of death) to reduce student anxiety. Students experienced anxiety upon first exposure to cadaver dissection. Female students experienced greater anxiety than male students upon first exposure to cadavers but this effect was short-lived. Self-identified non-white, non-Christian students experienced sustained anxiety throughout the semester, likely because cadaver stress compounded social and financial stressors unique to international students. Humanization was effective in reducing anxiety in non-white, non-Christian students but had the unexpected effect of increasing anxiety in female students. We recommend that humanizing information be offered to students who seek it out, but not forced upon students for whom the information would only add to their stress. Clin. Anat. 31:224-230, 2018. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  14. Positive family history of aortic dissection dramatically increases dissection risk in family members.

    Science.gov (United States)

    Ma, Wei-Guo; Chou, Alan S; Mok, Salvior C M; Ziganshin, Bulat A; Charilaou, Paris; Zafar, Mohammad A; Sieller, Richard S; Tranquilli, Maryann; Rizzo, John A; Elefteriades, John A

    2017-08-01

    Although family members of patients with aortic dissection (AoD) are believed to be at higher risk of AoD, the prognostic value of family history (FH) of aortic dissection (FHAD) in family members of patients with AoD has not been studied rigorously. We seek examine how much a positive FHAD increases the risk of developing new aortic dissection (AoD) among first-degree relatives. Patients with AoD at our institution were analyzed for information of FHAD. Positive FHAD referred to that AoD occurred in index patient and one or more first-degree relatives. Negative FHAD was defined as the condition in which only one case of AoD (the index patient) occurred in the family. The age at AoD, exposure years in adulthood before AoD, and annual probability of AoD among first-degree relatives were compared between patients with negative and positive FHADs. FHAD was positive in 32 and negative in 68 among the 100 AoD patients with detailed family history information. Mean age at dissection was 59.9±14.7years. Compared to negative FHAD, patients with positive FHAD dissected at significantly younger age (54.7±16.8 vs 62.4±13.0years, p=0.013), had more AoD events in first-degree relatives (2.3±0.6 vs 1.0±0.0, pfamily members, with a higher annual probability of aortic dissection, a shorter duration of "exposure time" before dissection occurs and a lower mean age at time of dissection. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  15. Optogenetic dissection of amygdala functioning

    Directory of Open Access Journals (Sweden)

    Ryan eLalumiere

    2014-03-01

    Full Text Available Studies of amygdala functioning have occupied a significant place in the history of understanding how the brain controls behavior and cognition. Early work on the amygdala placed this small structure as a key component in the regulation of emotion and affective behavior. Over time, our understanding of its role in brain processes has expanded, as we have uncovered amygdala influences on memory, reward behavior, and overall functioning in many other brain regions. Studies have indicated that the amygdala has widespread connections with a variety of brain structures, from the prefrontal cortex to regions of the brainstem, that explain its powerful influence on other parts of the brain and behaviors mediated by those regions. Thus, many optogenetic studies have focused on harnessing the powers of this technique to elucidate the functioning of the amygdala in relation to motivation, fear, and memory as well as to determine how the amygdala regulates activity in other structures. For example, studies using optogenetics have examined how specific circuits within amygdala nuclei regulate anxiety. Other work has provided insight into how the basolateral and central amygdala nuclei regulate memory processing underlying aversive learning. Many experiments have taken advantage of optogenetics’ ability to target either genetically distinct subpopulations of neurons or the specific projections from the amygdala to other brain regions. Findings from such studies have provided evidence that particular patterns of activity in basolateral amygdala glutamatergic neurons are related to memory consolidation processes, while other work has indicated the critical nature of amygdala inputs to the prefrontal cortex and nucleus accumbens in regulating behavior dependent on those downstream structures. This review will examine the recent discoveries on amygdala functioning made through experiments using optogenetics, placing these findings in the context of the major

  16. Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.

    Science.gov (United States)

    Borràs, Nina; Batlle, Javier; Pérez-Rodríguez, Almudena; López-Fernández, María Fernanda; Rodríguez-Trillo, Ángela; Lourés, Esther; Cid, Ana Rosa; Bonanad, Santiago; Cabrera, Noelia; Moret, Andrés; Parra, Rafael; Mingot-Castellano, María Eva; Balda, Ignacia; Altisent, Carme; Pérez-Montes, Rocío; Fisac, Rosa María; Iruín, Gemma; Herrero, Sonia; Soto, Inmaculada; de Rueda, Beatriz; Jiménez-Yuste, Víctor; Alonso, Nieves; Vilariño, Dolores; Arija, Olga; Campos, Rosa; Paloma, María José; Bermejo, Nuria; Berrueco, Rubén; Mateo, José; Arribalzaga, Karmele; Marco, Pascual; Palomo, Ángeles; Sarmiento, Lizheidy; Iñigo, Belén; Nieto, María Del Mar; Vidal, Rosa; Martínez, María Paz; Aguinaco, Reyes; César, Jesús María; Ferreiro, María; García-Frade, Javier; Rodríguez-Huerta, Ana María; Cuesta, Jorge; Rodríguez-González, Ramón; García-Candel, Faustino; Cornudella, Rosa; Aguilar, Carlos; Vidal, Francisco; Corrales, Irene

    2017-12-01

    Molecular diagnosis of patients with von Willebrand disease is pending in most populations due to the complexity and high cost of conventional molecular analyses. The need for molecular and clinical characterization of von Willebrand disease in Spain prompted the creation of a multicenter project (PCM-EVW-ES) that resulted in the largest prospective cohort study of patients with all types of von Willebrand disease. Molecular analysis of relevant regions of the VWF , including intronic and promoter regions, was achieved in the 556 individuals recruited via the development of a simple, innovative, relatively low-cost protocol based on microfluidic technology and next-generation sequencing. A total of 704 variants (237 different) were identified along VWF , 155 of which had not been previously recorded in the international mutation database. The potential pathogenic effect of these variants was assessed by in silico analysis. Furthermore, four short tandem repeats were analyzed in order to evaluate the ancestral origin of recurrent mutations. The outcome of genetic analysis allowed for the reclassification of 110 patients, identification of 37 asymptomatic carriers (important for genetic counseling) and re-inclusion of 43 patients previously excluded by phenotyping results. In total, 480 patients were definitively diagnosed. Candidate mutations were identified in all patients except 13 type 1 von Willebrand disease, yielding a high genotype-phenotype correlation. Our data reinforce the capital importance and usefulness of genetics in von Willebrand disease diagnostics. The progressive implementation of molecular study as the first-line test for routine diagnosis of this condition will lead to increasingly more personalized and effective care for this patient population. Copyright© 2017 Ferrata Storti Foundation.

  17. Acute Type II Aortic Dissection with Severe Aortic Regurgitation and Chronic Descending Aortic Dissection in Pregnant Patient with Marfan Syndrome

    OpenAIRE

    Lee, Seok-Soo; Jung, Tae-Eun; Lee, Dong Hyup

    2012-01-01

    Aortic dilatation and dissection are severe complications during pregnancy that can be fatal to both the mother and the fetus. The risks of these complications are especially high in pregnant patients with Marfan syndrome; however, incidents of descending aortic dissection are very rare. This case report involves a successful Bentall procedure for and recovery from a rare aortic dissection in a pregnant Marfan patient who developed acute type II aortic dissection with severe aortic regurgitat...

  18. Familial Thoracic Aortic Aneurysm with Dissection Presenting as Flash Pulmonary Edema in a 26-Year-Old Man

    Directory of Open Access Journals (Sweden)

    Sabry Omar

    2014-01-01

    Full Text Available We are reporting a case of familial thoracic aortic aneurysm and dissection in a 26-year-old man with no significant past medical history and a family history of dissecting aortic aneurysm in his mother at the age of 40. The patient presented with cough, shortness of breath, and chest pain. Chest X-ray showed bilateral pulmonary infiltrates. CT scan of the chest showed a dissection of the ascending aorta. The patient underwent aortic dissection repair and three months later he returned to our hospital with new complaints of back pain. CT angiography showed a new aortic dissection extending from the left carotid artery through the bifurcation and into the iliac arteries. The patient underwent replacement of the aortic root, ascending aorta, total aortic arch, and aortic valve. The patient recovered well postoperatively. Genetic studies of the patient and his children revealed no mutations in ACTA2, TGFBR1, TGFBR2, TGFB2, MYH11, MYLK, SMAD3, or FBN1. This case report focuses on a patient with familial TAAD and discusses the associated genetic loci and available screening methods. It is important to recognize potential cases of familial TAAD and understand the available screening methods since early diagnosis allows appropriate management of risk factors and treatment when necessary.

  19. Comprehensive genetic analyses reveal evolutionary distinction of a mouse (Zapus hudsonius preblei) proposed for delisting from the US Endangered Species Act.

    Science.gov (United States)

    King, Tim L; Switzer, John F; Morrison, Cheryl L; Eackles, Michael S; Young, Colleen C; Lubinski, Barbara A; Cryan, Paul

    2006-12-01

    Zapus hudsonius preblei, listed as threatened under the US Endangered Species Act (ESA), is one of 12 recognized subspecies of meadow jumping mice found in North America. Recent morphometric and phylogenetic comparisons among Z. h. preblei and neighbouring conspecifics questioned the taxonomic status of selected subspecies, resulting in a proposal to delist the Z. h. preblei from the ESA. We present additional analyses of the phylogeographic structure within Z. hudsonius that calls into question previously published data (and conclusions) and confirms the original taxonomic designations. A survey of 21 microsatellite DNA loci and 1380 base pairs from two mitochondrial DNA (mtDNA) regions (control region and cytochrome b) revealed that each Z. hudsonius subspecies is genetically distinct. These data do not support the null hypothesis of a homogeneous gene pool among the five subspecies found within the southwestern portion of the species' range. The magnitude of the observed differentiation was considerable and supported by significant findings for nearly every statistical comparison made, regardless of the genome or the taxa under consideration. Structuring of nuclear multilocus genotypes and subspecies-specific mtDNA haplotypes corresponded directly with the disjunct distributions of the subspecies investigated. Given the level of correspondence between the observed genetic population structure and previously proposed taxonomic classification of subspecies (based on the geographic separation and surveys of morphological variation), we conclude that the nominal subspecies surveyed in this study do not warrant synonymy, as has been proposed for Z. h. preblei, Z. h. campestris, and Z. h. intermedius.

  20. Students as teachers in an anatomy dissection course.

    Science.gov (United States)

    Salomäki, Tiina; Laakkonen, Juha; Ruohoniemi, Mirja

    2014-01-01

    One way to improve students' learning outcomes and well-being is to change teaching practices to allow students to become more active participants. We used an anatomy dissection course to test a cooperative group work method in which first-year veterinary students took turns leading their peer group and were each responsible for teaching the anatomy of a particular topographic region. The important blood vessels, lymphatic system, and nerves of each region of the body were covered. Students felt that exploration of the entire topographic region helped them to acquire a comprehensive understanding of the respiratory apparatus and the cardiovascular and nervous systems. Assigning individual tasks to each group member resulted in sharing the workload equally. Open-ended comments revealed that support from other group members was important for the students' learning experience, but the results also offered insight into a lack of constructive criticism. While teaching was considered challenging, and even a stress factor that hindered learning for some students, group work was generally held to be supportive of learning. The results suggest that more thorough instruction of students in their group work and in their individual tasks is required. Some students experienced difficulty in expressing their concerns openly and in seeking guidance from teachers, demonstrating the need for further investigation regarding students' self-regulation skills. Comments from the open-ended responses suggest that use of a cooperative learning method in anatomy dissection courses not only deepens student understanding of a subject but also offers first-year students an opportunity to practice the generic skills that will be needed in their future profession.

  1. Counter traction makes endoscopic submucosal dissection easier.

    Science.gov (United States)

    Oyama, Tsuneo

    2012-11-01

    Poor counter traction and poor field of vision make endoscopic submucosal dissection (ESD) difficult. Good counter traction allows dissections to be performed more quickly and safely. Position change, which utilizes gravity, is the simplest method to create a clear field of vision. It is useful especially for esophageal and colon ESD. The second easiest method is clip with line method. Counter traction made by clip with line accomplishes the creation of a clear field of vision and suitable counter traction thereby making ESD more efficient and safe. The author published this method in 2002. The name ESD was not established in those days; the name cutting endoscopic mucosal resection (EMR) or EMR with hook knife was used. The other traction methods such as external grasping forceps, internal traction, double channel scope, and double scopes method are introduced in this paper. A good strategy for creating counter traction makes ESD easier.

  2. Effective imaging of carotid artery dissection

    International Nuclear Information System (INIS)

    Obradovis, G.

    1997-01-01

    Angiography has been the gold standard in the diagnosis of arterial dissection for many years. With recent advances in techniques, particularly in MRI it may be worthy to re-evaluate the imaging methods available in obtaining the most information to maxims the patients' level of management. Assessing the imaging methods used in four patients with clinically suspected carotid artery dissection may reveal the most appropriate clinical pathway in managing these types of patients. In today's economic environment, we are striving for the most cost-effective imaging methods combined with the least invasive and safest. We must also review the cost benefit analysis of CT, angiography (DSA), Doppler Ultrasound and MRI/MRA. It is not within the scope of this paper to argue the merits of each imaging method, but purely to present some of the benefits in using non-invasive techniques if the clinical indications warrant them and they are available. (author)

  3. Development and validation of concurrent preimplantation genetic diagnosis for single gene disorders and comprehensive chromosomal aneuploidy screening without whole genome amplification.

    Science.gov (United States)

    Zimmerman, Rebekah S; Jalas, Chaim; Tao, Xin; Fedick, Anastasia M; Kim, Julia G; Pepe, Russell J; Northrop, Lesley E; Scott, Richard T; Treff, Nathan R

    2016-02-01

    To develop a novel and robust protocol for multifactorial preimplantation genetic testing of trophectoderm biopsies using quantitative polymerase chain reaction (qPCR). Prospective and blinded. Not applicable. Couples indicated for preimplantation genetic diagnosis (PGD). None. Allele dropout (ADO) and failed amplification rate, genotyping consistency, chromosome screening success rate, and clinical outcomes of qPCR-based screening. The ADO frequency on a single cell from a fibroblast cell line was 1.64% (18/1,096). When two or more cells were tested, the ADO frequency dropped to 0.02% (1/4,426). The rate of amplification failure was 1.38% (55/4,000) overall, with 2.5% (20/800) for single cells and 1.09% (35/3,200) for samples that had two or more cells. Among 152 embryos tested in 17 cases by qPCR-based PGD and CCS, 100% were successfully given a diagnosis, with 0% ADO or amplification failure. Genotyping consistency with reference laboratory results was >99%. Another 304 embryos from 43 cases were included in the clinical application of qPCR-based PGD and CCS, for which 99.7% (303/304) of the embryos were given a definitive diagnosis, with only 0.3% (1/304) having an inconclusive result owing to recombination. In patients receiving a transfer with follow-up, the pregnancy rate was 82% (27/33). This study demonstrates that the use of qPCR for PGD testing delivers consistent and more reliable results than existing methods and that single gene disorder PGD can be run concurrently with CCS without the need for additional embryo biopsy or whole genome amplification. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  4. Clinical analysis of neck dissection patients

    International Nuclear Information System (INIS)

    Sato, Katsuro; Takahashi, Sugata

    2008-01-01

    Neck dissection is a highly important surgical procedure in the treatment of squamous cell carcinoma (SCC) of the head and neck since the control of the nodal disease is highly important in these patients. In this paper, 131 patients (210 necks) treated in our department were analyzed. The most frequent primary lesion site was the oral cavity, followed by larynx, hypopharynx and mesopharynx, and treatment of metastatic nodes was considered important especially in patients with SCC in those regions. As the surgical procedure for neck dissection, (modified) radical neck dissection was chosen for higher N stage cases, although it was also applied to lower N stage cases. Postoperative irradiation was performed for 70% of the patients, and control of the neck was considered good as recurrent neck disease occurred in 8% of the patients, and only 20% of those died of recurrent neck disease. The most common primary site showing cervical recurrence was the oral cavity, and control of neck disease is considered important, especially in patients with SCC of the oral cavity. Patients with ≤number of pN 1 receiving postoperative irradiation, and patients with pN (-) and ≤number of pN 1 without postoperative irradiation showed significantly higher survival rates. Postoperative irradiation should be done for patients with ≥number of pN 2, and follow-up without postoperative treatment should be considered for the cases of ≤number of pN 1. Further consideration of patient selection with regard to the area of dissection and the indication for postoperative irradiation without decreasing the survival rate is needed to further improve the treatment of head and neck SCCs. (author)

  5. Whole vitreous humor dissection for vitreodynamic analysis.

    Science.gov (United States)

    Murali, Karthik; Kashani, Amir H; Humayun, Mark S

    2015-05-24

    The authors propose an effective technique to isolate whole, intact vitreous core and cortex from post mortem enucleated porcine eyes. While previous studies have shown the results of such dissections, the detailed steps have not been described, precluding researchers outside the field from replicating their methods. Other studies harvest vitreous either through aspiration, which does not maintain the vitreous structure anatomy, or through partial dissection, which only isolates the vitreous core. The proposed method isolates the whole vitreous body, with the vitreous core and cortex intact, while maintaining vitreous anatomy and structural integrity. In this method, a full thickness scleral flap in an enucleated porcine eye is first created and through this, the choroid tissue can be separated from the sclera. The scleral flap is then expanded and the choroid is completely separated from the sclera. Finally the choroid-retina tissue is peeled off the vitreous to leave an isolated intact vitreous body. The proposed vitreous dissection technique can be used to study physical properties of the vitreous humor. In particular, this method has significance for experimental studies involving drug delivery, vitreo-retinal oxygen transport, and intraocular convection.

  6. Acute aortic dissection: be aware of misdiagnosis

    Directory of Open Access Journals (Sweden)

    Asteri Theodora

    2009-02-01

    Full Text Available Abstract Background Acute aortic dissection (AAD is a life-threatening condition requiring immediate assessment and therapy. A patient suffering from AAD often presents with an insignificant or irrelevant medical history, giving rise to possible misdiagnosis. The aim of this retrospective study is to address the problem of misdiagnosing AD and the different imaging studies used. Methods From January 2000 to December 2004, 49 patients (41 men and 8 women, aged from 18–75 years old presented to the Emergency Department of our hospital for different reasons and finally diagnosed with AAD. Fifteen of those patients suffered from arterial hypertension, one from giant cell arteritis and another patient from Marfan's syndrome. The diagnosis of AAD was made by chest X-ray, contrast enhanced computed tomography (CT, transthoracic echocardiography (TTE and coronary angiography. Results Initial misdiagnosis occurred in fifteen patients (31% later found to be suffering from AAD. The misdiagnosis was myocardial infarction in 12 patients and cerebral infarction in another three patients. Conclusion Aortic dissection may present with a variety of clinical manifestations, like syncope, chest pain, anuria, pulse deficits, abdominal pain, back pain, or acute congestive heart failure. Nearly a third of the patients found to be suffering from AD, were initially otherwise diagnosed. Key in the management of acute aortic dissection is to maintain a high level of suspicion for this diagnosis.

  7. Assessment of stent edge dissections by fractional flow reserve.

    Science.gov (United States)

    Chung, Ju-Hyun; Ann, Soe Hee; Koo, Bon-Kwon; Nam, Chang-Wook; Doh, Joon-Hyung; Singh, Gillian Balbir; Kim, Hyung Il; Shin, Eun-Seok

    2015-04-15

    Edge dissections after intervention have been studied with imaging techniques, however, functional assessment has not been studied yet. We investigated the relationship between fractional flow reserve (FFR) and the angiographic type of stent edge dissections and tried to assess the use of FFR-guided management for edge dissection. 51 edge dissections assessed by FFR were included in this prospective observational study. FFR was measured for each type of edge dissection and compared with quantitative coronary angiographic findings. Clinical outcomes were evaluated based on FFR measurements. Edge dissections were classified as type A (47.1%; 24/51), type B (41.2%; 21/51), type C (2.0%; 1/51) and type D (9.8%; 5/51). Mean FFR in type A dissection was 0.87 ± 0.09, in type B 0.86 ± 0.07, in type C 0.72 and in type D 0.57 ± 0.08. All type C and D dissections (6/51) had FFR ≤ 0.8 and were treated with additional stents. Among the 45 type A and B dissections, 8 had a FFR ≤ 0.8 (17.8%), and 50% received additional stenting. All dissections with FFR >0.8 were left untreated except one long dissection case. There was no death, myocardial infarction or target lesion revascularization during hospitalization or the follow-up period (median 152 days; IQR 42-352 days). FFR correlates well with an angiographic type of edge dissection. Angiographic findings are sufficient for deciding the treatment of severe dissections such as types C and D, while FFR-guided management may be safe and effective for mild edge dissections such as types A and B. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  8. MRI and MR angiography of vertebral artery dissection

    International Nuclear Information System (INIS)

    Mascalchi, M.; Bianchi, M.C.; Mangiafico, S.; Ferrito, G.; Puglioli, M.; Marin, E.; Mugnai, S.; Canapicchi, R.; Quilici, N.; Inzitari, D.

    1997-01-01

    A review of 4,500 angiograms yielded 11 patients with dissection of the vertebral arteries who had MRI and (in 4 patients) MR angiography (MRA) in the acute phase of stroke. One patient with incidental discovery at arteriography of asymptomatic vertebral artery dissection and two patients with acute strokes with MRI and MRA findings consistent with vertebral artery dissection were included. Dissection occurred after neck trauma or chiropractic manipulation in 4 patients and was spontaneous in 10. Dissection involved the extracranial vertebral artery in 9 patients, the extra-intracranial junction in 1, and the intracranial artery in 4. MRI demonstrated infarcts in the brain stem, cerebellum, thalamus or temporo-occipital regions in 7 patients with extra- or extra-intracranial dissections and a solitary lateral medullary infarct in 4 patients (3 with intracranial and 1 with extra-intracranial dissection). In 2 patients no brain abnormality related to vertebral artery dissection was found and in one MRI did not show subarachnoid haemorrhage revealed by CT. Intramural dissecting haematoma appeared as crescentic or rounded high signal on T1-weighted images in 10 patients examined 3-20 days after the onset of symptoms. The abnormal vessel stood out in the low signal cerebrospinal fluid in intracranial dissections, whereas it was more difficult to detect in extracranial dissections because of the intermediate-to-high signal of the normal perivascular structures and slow flow proximal and distal to the dissection. In two patients examined within 36 h of the onset, mural thickening was of intermediate signal intensity on T1-weighted images and high signal on spin-density and T2-weighted images. MRA showed abrupt stenosis in 2 patients and disappearance of flow signal at and distal to the dissection in 5. Follow-up arteriography, MRI or MRA showed findings consistent with occlusion of the dissected vessel in 6 of 8 patients. (orig.). With 7 figs., 3 tabs

  9. Behaviour genetics of Drosophila: Non-sexual behaviour

    Indian Academy of Sciences (India)

    Unknown

    netic and molecular studies helped to reveal the genetic basis of circadian time keeping and rhythmic behaviours. In ... methods of behavioural analysis from psychology and ethology. ... new properties of neurons, they help to dissect neuronal.

  10. Dissection and Flat-mounting of the Threespine Stickleback Branchial Skeleton.

    Science.gov (United States)

    Ellis, Nicholas A; Miller, Craig T

    2016-05-07

    The posterior pharyngeal segments of the vertebrate head give rise to the branchial skeleton, the primary site of food processing in fish. The morphology of the fish branchial skeleton is matched to a species' diet. Threespine stickleback fish (Gasterosteus aculeatus) have emerged as a model system to study the genetic and developmental basis of evolved differences in a variety of traits. Marine populations of sticklebacks have repeatedly colonized countless new freshwater lakes and creeks. Adaptation to the new diet in these freshwater environments likely underlies a series of craniofacial changes that have evolved repeatedly in independently derived freshwater populations. These include three major patterning changes to the branchial skeleton: reductions in the number and length of gill raker bones, increases in pharyngeal tooth number, and increased branchial bone lengths. Here we describe a detailed protocol to dissect and flat-mount the internal branchial skeleton in threespine stickleback fish. Dissection of the entire three-dimensional branchial skeleton and mounting it flat into a largely two-dimensional prep allows for the easy visualization and quantification of branchial skeleton morphology. This dissection method is inexpensive, fast, relatively easy, and applicable to a wide variety of fish species. In sticklebacks, this efficient method allows the quantification of skeletal morphology in genetic crosses to map genomic regions controlling craniofacial patterning.

  11. Mining literature for a comprehensive pathway analysis: A case study for retrieval of homocysteine related genes for genetic and epigenetic studies

    Directory of Open Access Journals (Sweden)

    Mahajan Anubha

    2006-01-01

    Full Text Available Abstract Homocysteine is an independent risk factor for cardiovascular diseases. It is also known to be associated with a variety of complex disorders. While there are a large number of independent studies implicating homocysteine in isolated pathways, the mechanism of homocysteine induced adverse effects are not clear. Homocysteine-induced modulation of gene expression through alteration of methylation status or by hitherto unknown mechanisms is predicted to lead to several pathological conditions either directly or indirectly. In the present manuscript, using literature mining approach, we have identified the genes that are modulated directly or indirectly by an elevated level of homocysteine. These genes were then placed in appropriate pathways in an attempt to understand the molecular basis of homocysteine induced complex disorders and to provide a resource for selection of genes for polymorphism screening and analysis of mutations as well as epigenetic modifications in relation to hyperhomocysteinemia. We have identified 135 genes in 1137 abstracts that either modulate the levels of homocysteine or are modulated by elevated levels of homocysteine. Mapping the genes to their respective pathways revealed that an elevated level of homocysteine leads to the atherosclerosis either by directly affecting lipid metabolism and transport or via oxidative stress and/or Endoplasmic Reticulum (ER stress. Elevated levels of homocysteine also decreases the bioavailability of nitric oxide and modulates the levels of other metabolites including S-adenosyl methionine and S-adenosyl homocysteine which may result in cardiovascular or neurological disorders. The ER stress emerges as the common pathway that relates to apoptosis, atherosclerosis and neurological disorders and is modulated by levels of homocysteine. The comprehensive network collated has lead to the identification of genes that are modulated by homocysteine indicating that homocysteine exerts its

  12. Genetics of aggression.

    Science.gov (United States)

    Anholt, Robert R H; Mackay, Trudy F C

    2012-01-01

    Aggression mediates competition for food, mating partners, and habitats and, among social animals, establishes stable dominance hierarchies. In humans, abnormal aggression is a hallmark of neuropsychiatric disorders and can be elicited by environmental factors acting on an underlying genetic susceptibility. Identifying the genetic architecture that predisposes to aggressive behavior in people is challenging because of difficulties in quantifying the phenotype, genetic heterogeneity, and uncontrolled environmental conditions. Studies on mice have identified single-gene mutations that result in hyperaggression, contingent on genetic background. These studies can be complemented by systems genetics approaches in Drosophila melanogaster, in which mutational analyses together with genome-wide transcript analyses, artificial selection studies, and genome-wide analysis of epistasis have revealed that a large segment of the genome contributes to the manifestation of aggressive behavior with widespread epistatic interactions. Comparative genomic analyses based on the principle of evolutionary conservation are needed to enable a complete dissection of the neurogenetic underpinnings of this universal fitness trait.

  13. Late sequelae of whiplash injury with dissection of cervical arteries.

    Science.gov (United States)

    Hauser, Vital; Zangger, Peter; Winter, Yaroslav; Oertel, Wolfgang; Kesselring, Jürg

    2010-01-01

    The objective of our study was to estimate the incidence of posttraumatic dissections of cervical arteries in patients with whiplash injury acquired in a car accident. We performed a retrospective analysis of medical records of 500 patients with whiplash injury acquired in car accidents between 1996 and 2005 and searched for dissections of cervical arteries occurring within 12 months after injury. Eight cases of cervical arterial dissection occurred within 12 months following whiplash injury. In 7 cases (87.5%), the dissection was complicated by brain infarction. The incidence of posttraumatic dissections after whiplash injuries was much higher than the overall incidence of cervical arterial dissections in the general population (1.6 vs. 0.0041%). The risk of cerebrovascular events was still increased 4-12 months after whiplash injury (0.6 vs. 0.003075% in the general population). There is an increased risk of posttraumatic dissection and cerebrovascular events within 12 months after whiplash injury. Car accident is an important risk factor for arterial dissections. The victims of car accidents should be screened for arterial dissections. The results of this study should be more thoroughly investigated in a prospective trial of car accident victims as a risk factor for arterial dissections. Copyright © 2010 S. Karger AG, Basel.

  14. MR imaging of the entry, the abdominal communicating orifice, and the retrograde dissection in aortic dissections

    International Nuclear Information System (INIS)

    Yoshida, Y.; Mukohara, N.; Nakamura, K.; Sugimura, K.; Kono, M.

    1986-01-01

    MR imaging (1.5 T) was performed on 41 patients with aortic dissection. Entries were clearly visualized on the MR images as partial defects of the intimal flap in 18 of 21 patients (85.7%). In eight of ten patients, the locations of abdominal communicating orifices corresponded to the lowest signal intensities of the false lumina. Retrograde disections were diagnosed in all six patients from gradual increases in signal intensities of the false lumina toward the heart. MR imaging was very useful in diagnosing entries of the thoracic aorta, abdominal communicating orifices between true and false lumina, and retrograde dissections

  15. Comprehensive multilevel in vivo and in vitro analysis of heart rate fluctuations in mice by ECG telemetry and electrophysiology.

    Science.gov (United States)

    Fenske, Stefanie; Pröbstle, Rasmus; Auer, Franziska; Hassan, Sami; Marks, Vanessa; Pauza, Danius H; Biel, Martin; Wahl-Schott, Christian

    2016-01-01

    The normal heartbeat slightly fluctuates around a mean value; this phenomenon is called physiological heart rate variability (HRV). It is well known that altered HRV is a risk factor for sudden cardiac death. The availability of genetic mouse models makes it possible to experimentally dissect the mechanism of pathological changes in HRV and its relation to sudden cardiac death. Here we provide a protocol that allows for a comprehensive multilevel analysis of heart rate (HR) fluctuations. The protocol comprises a set of techniques that include in vivo telemetry and in vitro electrophysiology of intact sinoatrial network preparations or isolated single sinoatrial node (SAN) cells. In vitro preparations can be completed within a few hours, with data acquisition within 1 d. In vivo telemetric ECG requires 1 h for surgery and several weeks for data acquisition and analysis. This protocol is of interest to researchers investigating cardiovascular physiology and the pathophysiology of sudden cardiac death.

  16. CT and MR angiographic findings in dissection of cervical vessels

    International Nuclear Information System (INIS)

    Link, J.; Brinkmann, G.; Heuser, K.; Heller, M.

    1996-01-01

    Purpose: To determine the usefulness of CT angiography (CTA) and MR angiography (MRA) for evaluation of dissection in cervical vessels. Material and methods: Dissection of cervical vessels was revealed by conventional angiography in 4 patients (two female, two male) of 30-62 years of age. Dissection was located in the carotid artery (n=3) and in the vertebral artery (n=1). In two patients CTA and in two patients MRA was performed. Results: Diagnosis of dissection was possible by CTA (internal carotid artery: n=2) and by MRA (internal carotid artery and vertebral artery). Imaging of the dissection membrane of the vessel wall was possible in one case with MRA. Conclusion: CT and MR angiography was successful for detection of typical morphology of dissection in all cases. If results in a greater number can be obtained it seems to be conceivable that both methods can be used in primary diagnosis. (orig.) [de

  17. Spontaneous Coronary Artery Dissection following Topical Hormone Replacement Therapy

    Directory of Open Access Journals (Sweden)

    Alexander L. Pan

    2012-01-01

    Full Text Available Spontaneous coronary artery dissection is a rare condition, usually presenting as an acute coronary syndrome, and is often seen in states associated with high systemic estrogen levels such as pregnancy or oral contraceptive use. While topical hormonal replacement therapy may result in increased estrogen levels similar to those documented with oral contraceptive use, there are no reported cases of spontaneous coronary dissection with topical hormonal replacement therapy. We describe a 53-year-old female who developed two spontaneous coronary dissections while on topical hormonal replacement therapy. The patient had no other risk factors for coronary dissection. After withdrawal from topical hormonal therapy, our patient has done well and has not had recurrent coronary artery dissections over a one-year follow-up period. The potential contributory role of topical hormonal therapy as a cause of spontaneous coronary dissection should be recognized.

  18. Aortic dissection. Basic aspects and endovascular management

    International Nuclear Information System (INIS)

    Jaramillo, Nicolas I; Alviar, Carlos I

    2005-01-01

    Treatment of thoracic aortic pathology is complicated by the morbidity associated to the surgical procedure and to the frailty of an elderly and difficult population. Surgical operation in this kind of population frequently bears a significant incidence of death and long-term disability. In an effort to reduce the incidence of negative outcomes, minimally invasive techniques in the form of endovascular stenting have been introduced during the past decade. The technology, originally described by Parodi, and initially designed for its use in abdominal aortic aneurysms, has been adapted for the treatment of thoracic aortic aneurysms. Furthermore, an improved understanding of the pathophysiology and the natural history of thoracic aortic disease as well as the analysis of the outcomes have facilitated our treatment decisions in terms of the timing for an appropriate intervention. Treatment of thoracic aortic dissection using endovascular Stent is one of the more recent advances in this condition and is receiving increasing attention, as it is a less invasive alternative to an open surgical repair. Although this technology is still innovative, significant improvements have been made lately in the design and deployment of the endovascular Stent-grafts. These prostheses have been increasingly used to treat aneurysms, dissections and traumatic ruptures, as well as giant penetrating ulcers and intramural hematomas of the descending thoracic aorta with good early and mid-term outcomes. The rareness, complexity and severity of the pathology and the theoretically high risk of complications should render the surgeon extremely cautious especially with young patients. Conceptually, the endo luminal treatment in the acute phase seems to be the solution and will probably become a preferred therapy while technical refinement is under way. Worldwide experience is growing and with this a better understanding of the indications and limitations of this innovative therapy will be

  19. Contemporary Management of Acute Type B Dissection.

    Science.gov (United States)

    Scott, A J; Bicknell, C D

    2016-03-01

    Growing confidence in thoracic endovascular aortic repair (TEVAR) for the management of acute type B aortic dissection has resulted in controversies regarding optimum patient selection and the timing of intervention. In this review a clinical vignette to present a practical perspective on the contemporary management of acute type B dissection (ABAD) in a specialist vascular centre with particular focus on areas of debate is used. This is a narrative clinical review. Aggressive anti-impulse therapy is the cornerstone of management of all patients with ABAD. However, 20-30% of patients develop complicated ABAD defined by the presence of malperfusion syndromes, acute aortic dilatation, dissection extension, or persistent pain and hypotension. These complicated patients typically require intervention, and non-randomised series suggest TEVAR to be an effective alternative to open repair with a lower morbidity. There is considerable interest and controversy surrounding the use of TEVAR in uncomplicated ABAD patients for whom the intervention-free survival at 6 years is less than 50% for patients managed with anti-impulse therapy. Data regarding this question are sparse, but two randomised trials (ADSORB and INSTEAD) both demonstrated a higher rate of favourable aortic remodelling in patients managed with TEVAR than medical therapy alone. However, it is unclear whether this positive remodelling translates into a reduction in long-term mortality sufficient to balance the early perioperative hazards of endografting. Despite increasing adeptness at endovascular stenting, the long-term outcomes of patients with ABAD leave significant room for improvement. In particular, the optimum management of patients with uncomplicated disease is unclear and guidance from trials powered for long-term mortality is awaited. Until then, the principals of management of ABAD remain aggressive medical therapy for all patients, with TEVAR primarily reserved for those who develop complications

  20. NCI Dictionary of Genetics Terms

    Science.gov (United States)

    A dictionary of more than 150 genetics-related terms written for healthcare professionals. This resource was developed to support the comprehensive, evidence-based, peer-reviewed PDQ cancer genetics information summaries.

  1. Aortic dissection presenting as a febrile disease and atrial fibrillation

    OpenAIRE

    Blas-Macedo, Jorge; Márquez-Ramírez, Dolores; Gómez-Dominguez, José de Jesús

    2007-01-01

    Aortic dissection is a cardiovascular emergency. Its main manifestation is severe chest pain, and approximately 50% of patients present with an elevated systemic blood pressure. Rare reported physical findings include a pulsatile sterno-clavicular joint, dysphagia or testicular tenderness. The absence of sudden onset of pain lowers the likelihood of aortic dissection. We describe a patient in whom aortic dissection was accompanied by fever, nightsweats, suprasternal pain and atrial fibrillati...

  2. The risk for type B aortic dissection in Marfan syndrome.

    Science.gov (United States)

    den Hartog, Alexander W; Franken, Romy; Zwinderman, Aeilko H; Timmermans, Janneke; Scholte, Arthur J; van den Berg, Maarten P; de Waard, Vivian; Pals, Gerard; Mulder, Barbara J M; Groenink, Maarten

    2015-01-27

    Aortic dissections involving the descending aorta are a major clinical problem in patients with Marfan syndrome. The purpose of this study was to identify clinical parameters associated with type B aortic dissection and to develop a risk model to predict type B aortic dissection in patients with Marfan syndrome. Patients with the diagnosis of Marfan syndrome and magnetic resonance imaging or computed tomographic imaging of the aorta were followed for a median of 6 years for the occurrence of type B dissection or the combined end point of type B aortic dissection, distal aortic surgery, and death. A model using various clinical parameters as well as genotyping was developed to predict the risk for type B dissection in patients with Marfan syndrome. Between 1998 and 2013, 54 type B aortic dissections occurred in 600 patients with Marfan syndrome (mean age 36 ± 14 years, 52% male). Independent variables associated with type B aortic dissection were prior prophylactic aortic surgery (hazard ratio: 2.1; 95% confidence interval: 1.2 to 3.8; p = 0.010) and a proximal descending aorta diameter ≥27 mm (hazard ratio: 2.2; 95% confidence interval: 1.1 to 4.3; p = 0.020). In the risk model, the 10-year occurrence of type B aortic dissection in low-, moderate-, and high-risk patients was 6%, 19%, and 34%, respectively. Angiotensin II receptor blocker therapy was associated with fewer type B aortic dissections (hazard ratio: 0.3; 95% confidence interval: 0.1 to 0.9; p = 0.030). Patients with Marfan syndrome with prior prophylactic aortic surgery are at substantial risk for type B aortic dissection, even when the descending aorta is only slightly dilated. Angiotensin II receptor blocker therapy may be protective in the prevention of type B aortic dissections. Copyright © 2015 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  3. Doing Dissections Differently: A Structured, Peer-Assisted Learning Approach to Maximizing Learning in Dissections

    Science.gov (United States)

    Hall, Emma R.; Davis, Rachel C.; Weller, Renate; Powney, Sonya; Williams, Sarah B.

    2013-01-01

    Areas of difficulty faced by our veterinary medicine students, with respect to their learning in dissection classes, were identified. These challenges were both general adult-learning related and specific to the discipline of anatomy. Our aim was to design, implement, and evaluate a modified reciprocal peer-assisted/team-based learning…

  4. Background Music in the Dissection Laboratory: Impact on Stress Associated with the Dissection Experience

    Science.gov (United States)

    Anyanwu, Emeka G.

    2015-01-01

    Notable challenges, such as mental distress, boredom, negative moods, and attitudes, have been associated with learning in the cadaver dissection laboratory (CDL). The ability of background music (BM) to enhance the cognitive abilities of students is well documented. The present study was designed to investigate the impact of BM in the CDL and on…

  5. Biology teachers' dissection practices and the influences that lead to their adoption: An exploratory research

    Science.gov (United States)

    Milano, Regina Nicole

    The lack of resolution in the on-going animal dissection debate inspired this mixed methods study to identify Connecticut secondary biology teachers' dissection practices and the influences that lead to their adoption. Qualitative findings indicate past experiences, managing objections to dissection, school culture, goals of biology teaching and ethics as major influences on dissection practices with 58.4% (n=7) of the sample dissecting and 41.6% not dissecting (n=5). Quantitative findings reveal gender, standards and curriculum, advantages of dissection and experiences as a student as major influences on dissection practices with 71.9% (n=92) of the sample dissecting and 28.1% (n=36) not dissecting. The study concludes that dissection policies are necessary and imminent in Connecticut school districts. Furthermore, it advises teacher-initiated, qualitative and quantitative assessments to expose disparities between student dissection perspectives and their own, prior to conducting dissection. Finally, it provides suggestions for addressing potential differences including administrative involvement.

  6. Thoracic aortic aneurysms and dissections: endovascular treatment.

    Science.gov (United States)

    Baril, Donald T; Cho, Jae S; Chaer, Rabih A; Makaroun, Michel S

    2010-01-01

    The treatment of thoracic aortic disease has changed radically with the advances made in endovascular therapy since the concept of thoracic endovascular aortic repair was first described 15 years ago. Currently, there is a diverse array of endografts that are commercially available to treat the thoracic aorta. Multiple studies, including industry-sponsored and single-institution reports, have demonstrated excellent outcomes of thoracic endovascular aortic repair for the treatment of thoracic aortic aneurysms, with less reported perioperative morbidity and mortality in comparison with conventional open repair. Additionally, similar outcomes have been demonstrated for the treatment of type B dissections. However, the technology remains relatively novel, and larger studies with longer term outcomes are necessary to more fully evaluate the role of endovascular therapy for the treatment of thoracic aortic disease. This review examines the currently available thoracic endografts, preoperative planning for thoracic endovascular aortic repair, and outcomes of thoracic endovascular aortic repair for the treatment of both thoracic aortic aneurysms and type B aortic dissections. Mt Sinai J Med 77:256-269, 2010. (c) 2010 Mount Sinai School of Medicine.

  7. Diagnosis of Aortic Dissection in Emergency Department Patients is Rare

    Directory of Open Access Journals (Sweden)

    Scott M. Alter

    2015-10-01

    Full Text Available Introduction: Aortic dissection is a rare event. While the most frequent symptom is chest pain, that is a common emergency department (ED chief complaint and other diseases causing chest pain occur much more often. Furthermore, 20% of dissections are without chest pain and 6% are painless. For these reasons, diagnosing dissections may be challenging. Our goal was to determine the number of total ED and atraumatic chest pain patients for every aortic dissection diagnosed by emergency physicians. Methods: Design: Retrospective cohort. Setting: 33 suburban and urban New York and New Jersey EDs with annual visits between 8,000 and 80,000. Participants: Consecutive patients seen by emergency physicians from 1-1-1996 through 12-31-2010. Observations: We identified aortic dissection and atraumatic chest pain patients using the International Classification of Diseases 9th Revision and Clinical Modification codes. We then calculated the number of total ED and atraumatic chest pain patients for every aortic dissection, along with 95% confidence intervals (CIs. Results: From a database of 9.5 million ED visits, we identified 782 aortic dissections or one for every 12,200 (95% CI [11,400-13,100] visits. The mean age of dissection patients was 66±16 years and 38% were female. There were 763,000 (8% with atraumatic chest pain diagnoses. Thus, there is one dissection for every 980 (95% CI [910-1,050] atraumatic chest pain patients. Conclusion: The diagnosis of aortic dissections by emergency physicians is rare and challenging. An emergency physician seeing 3,000 to 4,000 patients a year would diagnose an aortic dissection approximately every three to four years.

  8. Using systems and structure biology tools to dissect cellular phenotypes.

    Science.gov (United States)

    Floratos, Aris; Honig, Barry; Pe'er, Dana; Califano, Andrea

    2012-01-01

    The Center for the Multiscale Analysis of Genetic Networks (MAGNet, http://magnet.c2b2.columbia.edu) was established in 2005, with the mission of providing the biomedical research community with Structural and Systems Biology algorithms and software tools for the dissection of molecular interactions and for the interaction-based elucidation of cellular phenotypes. Over the last 7 years, MAGNet investigators have developed many novel analysis methodologies, which have led to important biological discoveries, including understanding the role of the DNA shape in protein-DNA binding specificity and the discovery of genes causally related to the presentation of malignant phenotypes, including lymphoma, glioma, and melanoma. Software tools implementing these methodologies have been broadly adopted by the research community and are made freely available through geWorkbench, the Center's integrated analysis platform. Additionally, MAGNet has been instrumental in organizing and developing key conferences and meetings focused on the emerging field of systems biology and regulatory genomics, with special focus on cancer-related research.

  9. Diagnostic imaging of acute aortic dissection; Evaluation of thrombosed type aortic dissection by CT and angiography

    Energy Technology Data Exchange (ETDEWEB)

    Ohya, Tohru; Kumazaki, Tatsuo (Nippon Medical School, Tokyo (Japan))

    1991-01-01

    One hundred and nineteen patients with aortic dissection who underwent diagnostic imaging were reviewed and angiographic findings as well as those of CT were analysed. Thirty eight cases (43.1%) had non-contrast opacified false lumen, the type of which we call 'thrombosed type aortic dissection'. A comparative study of the thrombosed type with the patent type of false lumens was made particularly from the stand point of the characteristic diagnostic imagings (CT and angiography). At the same time, the pitfalls of these imagings in thrombosed type aortic dissection were studied. At the onset the average age of thrombosed type was 62.3 years old, while that of the patent type was 57.3. A statistical significance between the two groups was p<0.05. Thrombosed type in all cases was caused by atherosclerosis, whereas patent type was caused by the Marfan's syndrome in 11 cases. Other clinical findings, such as initial symptoms and blood pressure revealed no significant differences between the two groups. Pre-contrast CT in acute thrombosed type aortic dissection showed 'hyperdense crescent sign' in 89.4%. However, in 3 cases with thrombosed type in which the pre-contrast CT showed 'hyperdense crescent sign' contrast-enhanced CT detected no clear evidence of aortic dissection in the same site. This was due to obscurity induced by contrast medium. Angiographic findings of thrombosed type were classified into 3 groups: normal type, stenosed true lumen type and ulcer-like projection type. The incidence of normal type was estimated to be 48.4%, whereas stenosed true lumen type was 24.2% and ulcer-like projection was 27.7%. The present study concluded that thrombosed type is not rare in acute aortic dissection and contrast-enhanced CT as well as pre-contrast CT, is of great value in diagnosing thrombosed type. 'Hyperdense crescent sign' in pre-contrast CT is characteristic of intramural hematoma. (author).

  10. Spontaneous carotid artery dissection causing a juvenile cerebral infarction

    Energy Technology Data Exchange (ETDEWEB)

    Trattnig, S.; Huebsch, P.; Schindler, E.

    1988-11-01

    The case of a 19-year-old patient is presented who was admitted with aphasia and hemiparesis due to basal ganglia infarction as a result of spontaneous dissection of the internal carotid artery. The difficulties in diagnosing this disease with CT and MRI in the acute stage are demonstrated. Angiography is still imperative in order to ascertain that a carotid dissection has occurred.

  11. Reaction of Medical Students to Experiences in Dissection Room ...

    African Journals Online (AJOL)

    Conclusion: The present study findings show that smell of the dissection room, touch and fear of cadaver were the commonest cause of their symptoms experienced while study in dissection room for the majority of students. Thus, instructors are should give awareness raising education before the commencement of the ...

  12. THE IMPACT OF DIAGNOSTIC DISCREPANCIES IN AORTIC DISSECTION MANAGEMENT

    Directory of Open Access Journals (Sweden)

    Abdalla Hassan

    2016-01-01

    Full Text Available Aortic dissection is uncommon with high mortality rate if untreated. We report a challenging case of long segment aortic dissection in which the dissection type was very difficult to identify due to limitations of the available imaging studies. 66-year-old male presented to us with 3 days history of chest pain and difficulty breathing. He is known to be hypertensive. In the emergency room, patient has systolic blood pressure >190. Chest X-ray showed widening of mediastinum. CT angiography of chest and abdomen showed an acute dissection of the thoracic aorta extending from the mid ascending aorta to the infra-renal aorta suggestive of Stanford type A aortic dissection. Transthoracic and Trans-esophageal echocardiography revealed a partially calcified intimal flap in the distal portion of the arch and in the descending thoracic aorta suggestive of Stanford type B aortic dissection. Medical treatment started, and repeated CT angiography was obtained and it confirmed type B aortic dissection. One week after discharge, patient was readmitted with severe neck pain and difficulty breathing. CT chest without contrast showed grossly stable appearance of type A dissection consistent with the first CT angiography. Cardiothoracic surgery immediately reevaluated the situation and recommended surgical intervention.

  13. Arterial occlusion to treat basilar artery dissecting aneurysm

    NARCIS (Netherlands)

    Cui, Qing Ke; Liu, Wei Dong; Liu, Peng; Li, Xue Yuan; Zhang, Lian Qun; Ma, Long Jia; Ren, Yun Fei; Wu, Ya Ping; Wang, Zhi Gang

    2015-01-01

    Object: To explore the clinical feasibility of employing occlusion to treat basilar artery dissecting aneurysm. Methods: One patient, male and 46 years old, suffered transient numbness and weakness on the right limbs. Cerebral angiography indicated basilar artery dissecting aneurysm. The patient

  14. Intramural Esophageal Dissection after Endoscopy: A Case Report

    International Nuclear Information System (INIS)

    Han, Ki Tae; Kim, Song Soo; Kim, Jin Hwan

    2011-01-01

    Intramural esophageal dissection (IED) is an uncommon disorder characterized by a separation between the esophageal mucosa and submucosa with or without perforation. IED is usually related with an abrupt increase in intraesophageal pressure, history of recent instrumentation, and a coagulation disorder. We report a case of IED showing extensive dissection into the wall of the stomach, which successfully subsided by conservative treatment.

  15. CrossFit-related cervical internal carotid artery dissection.

    Science.gov (United States)

    Lu, Albert; Shen, Peter; Lee, Paul; Dahlin, Brian; Waldau, Ben; Nidecker, Anna E; Nundkumar, Anoop; Bobinski, Matthew

    2015-08-01

    CrossFit is a high-intensity strength and conditioning program that has gained popularity over the past decade. Potential injuries associated with CrossFit training have been suggested in past reports. We report three cases of cervical carotid dissection that are associated with CrossFit workouts. Patient 1 suffered a distal cervical internal carotid artery (ICA) dissection near the skull base and a small infarct in Wernicke's area. He was placed on anticoagulation and on follow-up has near complete recovery. Patient 2 suffered a proximal cervical ICA dissection that led to arterial occlusion and recurrent middle cerebral artery territory infarcts and significant neurological sequelae. Patient 3 had a skull base ICA dissection that led to a partial Horner's syndrome but no cerebral infarct. While direct causality cannot be proven, intense CrossFit workouts may have led to the ICA dissections in these patients.

  16. Genetic analysis of Schizosaccharomyces pombe

    DEFF Research Database (Denmark)

    Ekwall, Karl; Thon, Genevieve

    2017-01-01

    In this introduction we discuss some basic genetic tools and techniques that are used with the fission yeast Schizosaccharomyces pombe. Genes commonly used for selection or as reporters are discussed, with an emphasis on genes that permit counterselection, intragenic complementation, or colony......-color assays. S. pombe is most stable as a haploid organism. We describe its mating-type system, how to perform genetic crosses and methods for selecting and propagating diploids. We discuss the relative merits of tetrad dissection and random spore preparation in strain construction and genetic analyses...

  17. Aortic dissection presenting with secondary pulmonary hypertension caused by compression of the pulmonary artery by dissecting hematoma: a case report

    International Nuclear Information System (INIS)

    Kim, Dong Hun; Ryu, Sang Wan; Choi, Yong Sun; Ahn, Byoung Hee

    2004-01-01

    The rupture of an acute dissection of the ascending aorta into the space surrounding the pulmonary artery is an uncommon occurrence. No previous cases of transient pulmonary hypertension caused by a hematoma surrounding the pulmonary artery have been documented in the literature. Herein, we report a case of acute aortic dissection presenting as secondary pulmonary hypertension

  18. IV DSA in the diagnosis and follow-up of dissection of the thoracic aorta

    Energy Technology Data Exchange (ETDEWEB)

    Hendrickx, P.; Luska, G.; Laas, J.; Haverich, A.

    1986-05-01

    Intravenous DSA was performed in 53 patients with suspected dissection of the thoracic aorta and in 13 patients following surgery for aortic dissection. In 36 patients, the suspected diagnosis could be excluded definitely and, in 14 cases out of 17, a dissection was correctly diagnosed. All 11 type B dissections were correctly diagnosed. Of six type A dissections, only three were adequately demonstrated by IV DSA. In type B dissections, IV DSA is reliable, but in type A dissection with massive aortic insufficiency or pericardial tamponade the findings are not reliable. In all 13 patients who had surgery for dissection, IV DSA proved suitable for showing the anastomosis and progress of the disease.

  19. Pulmonary artery dissection in eight dogs with patent ductus arteriosus.

    Science.gov (United States)

    Scansen, Brian A; Simpson, Elaine M; López-Alvarez, Jordi; Thomas, William P; Bright, Janice M; Eason, Bryan D; Rush, John E; Dukes-McEwan, Joanna; Green, Henry W; Cunningham, Suzanne M; Visser, Lance C; Kent, Agnieszka M; Schober, Karsten E

    2015-06-01

    To describe a series of dogs with pulmonary artery dissection and patent ductus arteriosus (PDA). Eight dogs. Retrospective case series. Pulmonary artery dissection was diagnosed in 8 dogs, 3 were Weimaraners. Four dogs presented in left-sided congestive heart failure, 4 presented for murmur evaluation and without clinical signs, and 1 presented in right-sided congestive heart failure. In 7 dogs the dissection was first documented concurrent with a diagnosis of uncorrected PDA. In the other dog, with pulmonary valve stenosis and PDA, the dissection was observed on autopsy examination 17 months after balloon pulmonary valvuloplasty and ductal closure. Median age at presentation for the 7 dogs with antemortem diagnosis of pulmonary artery dissection was 3.5 years (range, 1.5-4 years). Three dogs had the PDA surgically ligated, 2 dogs did not undergo PDA closure, 1 dog failed transcatheter occlusion of the PDA with subsequent surgical ligation, 1 dog underwent successful transcatheter device occlusion of the PDA, and 1 dog had the PDA closed by transcatheter coil delivery 17 months prior to the diagnosis of pulmonary artery dissection. The 2 dogs that did not have the PDA closed died 1 and 3 years after diagnosis due to heart failure. Pulmonary artery dissection is a potential complication of PDA in dogs, the Weimaraner breed may be at increased risk, presentation is often in mature dogs, and closure of the PDA can be performed and appears to improve outcome. Copyright © 2014 Elsevier B.V. All rights reserved.

  20. Review of patients with dysphasia after a neck dissection

    International Nuclear Information System (INIS)

    Yokoyama, Junkichi

    2007-01-01

    The most useful modality for treating neck metastasis is a neck dissection. A neck dissection was previously performed as a radical neck dissection. However, disabilities in shoulder movement and swallowing function often occur after this procedure. Recently, a functional neck dissection has therefore been performed in order to avoid such postoperative complications. The current study for dysphasia after a neck dissection investigates patients with primary unknown neck metastasis and neck recurrence after chemoradiation. Eleven cases of dysphasia occurred after a neck dissection between 2003 and 2006. These cases resected the lower cranial nerves (IX, X, XII), or paralysis of these nerves occurred despite their preservation after surgery. Patients with dysphasia underwent rehabilitation to regain their swallowing function. However, rehabilitation was unsuccessful and the patients were thus required to undergo further surgery. A neck dissection with resection of the lower cranial nerves (IX, X, XII) may sometimes result in dysphasia. Consequently, surgery to prevent dysphasia should be performed simultaneously so that timely postoperative therapy can be carried out. (author)

  1. Neurorehabilitation in stroke produced by vertebral artery dissection: case presentation

    Directory of Open Access Journals (Sweden)

    Stanescu Ioana

    2018-02-01

    Full Text Available Arterial dissections are a common cause of stroke in the young (mean age 44 to 46 years. Primary lesion is a tear of the arterial intima, which promotes platelet aggregation, thrombus formation, which further produced vessel stenosis / occlusion, distal embolism or vessel wall rupture. Vertebral artery (VA dissection appear most commonly in extracranial segments V2 and V3, and could be spontaneous (with underlying predispositions or triggered by various traumatisms. Clinicaly, VA dissection produces an ischemic stroke or transient ischemic attack , preceded by local symptoms such as neck pain or headache. The diagnosis is confirmed by neurovascular imaging. Treatment of symptomatic VA dissections respect indications of treatment in ischemic strokes. Prognosis is mostly favorable in extracranial dissections. We present the case of a left VA dissection in V2 segment, produced by physical effort (swimming, which causes 2 ischemic lesions, one in the territory of the left posterior cerebral artery and the other in the territory of the left posterolateral chorroidal artery. Patient’s treatment included antiplatelet agents, statines, and an adapted physical rehabilitation program. At three months he showed significant clinical improvement with regain of autonomy and partial recanalisation at angio-MRI of the V2 segment of the dissected artery.

  2. Pulmonary Artery Dissection: A Fatal Complication of Pulmonary Hypertension

    Directory of Open Access Journals (Sweden)

    Chuanchen Zhang

    2016-01-01

    Full Text Available Pulmonary artery dissection is extremely rare but it is a really life-threatening condition when it happens. Most patients die suddenly from major bleeding or tamponade caused by direct rupture into mediastinum or retrograde into the pericardial sac. What we are reporting is a rare case of a 46-year-old female patient whose pulmonary artery dissection involves both the pulmonary valve and right pulmonary artery. The patient had acute chest pain and severe dyspnea, and the diagnosis of pulmonary artery dissection was confirmed by ultrasonography and CT angiography. Moreover, its etiology, clinical manifestations, and management are also discussed in this article.

  3. Pseudo-dissection of ascending aorta in inferior myocardial infarction.

    Directory of Open Access Journals (Sweden)

    Grahame K. Goode

    2011-06-01

    Full Text Available Acute aortic dissection is a cardiac emergency which can present as inferior myocardial infarction. It has high morbidity and mortality requiring prompt diagnosis and treatment. Rapid advances in noninvasive imaging modalities have facilitated the early diagnosis of this condition and in ruling out this potentially catastrophic illness. We report an interesting case of a 57 year- old -man who presented with inferior myocardial infarction requiring thrombolysis and temporary pacing wire for complete heart block. An echocardiogram was highly suspicious of aortic dissection. CT scan confirmed that the malposition of the temporary pacing wire through the aorta mimicked aortic dissection.

  4. Dissecting Time- from Tumor-Related Gene Expression Variability in Bilateral Breast Cancer

    Directory of Open Access Journals (Sweden)

    Maurizio Callari

    2018-01-01

    Full Text Available Metachronous (MBC and synchronous bilateral breast tumors (SBC are mostly distinct primaries, whereas paired primaries and their local recurrences (LRC share a common origin. Intra-pair gene expression variability in MBC, SBC, and LRC derives from time/tumor microenvironment-related and tumor genetic background-related factors and pairs represents an ideal model for trying to dissect tumor-related from microenvironment-related variability. Pairs of tumors derived from women with SBC (n = 18, MBC (n = 11, and LRC (n = 10 undergoing local-regional treatment were profiled for gene expression; similarity between pairs was measured using an intraclass correlation coefficient (ICC computed for each gene and compared using analysis of variance (ANOVA. When considering biologically unselected genes, the highest correlations were found for primaries and paired LRC, and the lowest for MBC pairs. By instead limiting the analysis to the breast cancer intrinsic genes, correlations between primaries and paired LRC were enhanced, while lower similarities were observed for SBC and MBC. Focusing on stromal-related genes, the ICC values decreased for MBC and were significantly different from SBC. These findings indicate that it is possible to dissect intra-pair gene expression variability into components that are associated with genetic origin or with time and microenvironment by using specific gene subsets.

  5. Esophageal Stricture Prevention after Endoscopic Submucosal Dissection

    Directory of Open Access Journals (Sweden)

    Deepanshu Jain

    2016-05-01

    Full Text Available Advances in diagnostic modalities and improvement in surveillance programs for Barrett esophagus has resulted in an increase in the incidence of superficial esophageal cancers (SECs. SEC, due to their limited metastatic potential, are amenable to non-invasive treatment modalities. Endoscopic ultrasound, endoscopic mucosal resection, and endoscopic submucosal dissection (ESD are some of the new modalities that gastroenterologists have used over the last decade to diagnose and treat SEC. However, esophageal stricture (ES is a very common complication and a major cause of morbidity post-ESD. In the past few years, there has been a tremendous effort to reduce the incidence of ES among patients undergoing ESD. Steroids have shown the most consistent results over time with minimal complications although the preferred mode of delivery is debatable, with both systemic and local therapy having pros and cons for specific subgroups of patients. Newer modalities such as esophageal stents, autologous cell sheet transplantation, polyglycolic acid, and tranilast have shown promising results but the depth of experience with these methods is still limited. We have summarized case reports, prospective single center studies, and randomized controlled trials describing the various methods intended to reduce the incidence of ES after ESD. Indications, techniques, outcomes, limitations, and reported complications are discussed.

  6. Dissecting the risky-choice framing effect

    Directory of Open Access Journals (Sweden)

    Ellen Peters

    2008-08-01

    Full Text Available Using five variants of the Asian Disease Problem, we dissected the risky-choice framing effect by requiring each participant to provide preference ratings for the full decision problem and also to provide attractiveness ratings for each of the component parts, i.e., the sure-thing option and the risky option. Consistent with previous research, more risky choices were made by respondents receiving negatively framed versions of the decision problems than by those receiving positively framed versions. However, different processes were evident for those scoring high and low on numeracy. Whereas the choices of the less numerate showed a large effect of frame above and beyond any influence of their evaluations of the separate options, the choices of the highly numerate were almost completely accounted for by their attractiveness ratings of the separate options. These results are consistent with an increased tendency of the highly numerate to integrate complex numeric information in the construction of their preferences and a tendency for the less numerate to respond more superficially to non-numeric sources of information.

  7. [Thoracic aortic dissection revealed by systemic cholesterol embolism].

    Science.gov (United States)

    Braem, L; Paule, P; Héno, P; Morand, J J; Mafart, B; La Folie, T; Varlet, P; Mioulet, D; Fourcade, L

    2006-10-01

    Systemic cholesterol embolism is a rare complication of atherosclerosis, and has various presentations. Arterial catheterisms are a common cause. However, the association with an aortic dissection has been exceptionally reported. We report the observation of a 70 year-old man, with coronary artery disease, hypertension, diabetes and dyslipidemia. Six months before hospitalization, a coronary angioplasty was performed due to recurrent angina. The association of purpuric lesions on the feet, with acute renal failure confirmed cholesterol embolism syndrome. Transoesophageal echocardiography showed a dissection of the descending thoracic aorta associated with complex atheroma. The evolution was marked by the pulpar necrosis of a toe and by a worsening of the renal failure, requiring definitive hemodialysis. Further echographic control highlighted the rupture of the intimal veil of the dissection. Cholesterol embolism syndrome may reveal an aortic dissection in patients without thoracic symptoms. In such cases, transoesophageal echocardiography is a useful and non-invasive examination.

  8. Perception to Cadaver Dissection and Views on Anatomy as a ...

    African Journals Online (AJOL)

    However, literature on medical students' perceptions on cadaver dissection and their ... Bachelor of Medicine and Bachelor of Surgery at the new school of Medicine, Kenya ... training and counseling to make the experience better for students.

  9. An interesting case report of vertebral artery dissection following polytrauma

    Directory of Open Access Journals (Sweden)

    Vikas Acharya

    2016-01-01

    Conclusion: Our report displays select images related to this case report and emphasizes the consideration of routine imaging in head and neck traumatic injuries to diagnose internal carotid and/or vertebral artery dissections much earlier.

  10. Comprehensive Psychiatric Evaluation

    Science.gov (United States)

    ... Facts for Families Guide Facts for Families - Vietnamese Comprehensive Psychiatric Evaluation No. 52; Updated October 2017 Evaluation ... with serious emotional and behavioral problems need a comprehensive psychiatric evaluation. Comprehensive psychiatric evaluations usually require a ...

  11. Children's hypertext comprehension

    NARCIS (Netherlands)

    Segers, P.C.J.; Segers, E.; Broek, P. van den

    2017-01-01

    The present chapter gives an overview of the literature on hypertext comprehension, children's hypertext comprehension and individual variation therein, ending with a perspective for future research. Hypertext comprehension requires the reader to make bridging inferences between the different parts

  12. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 91; Issue 2. Genomic dissection and prioritizing of candidate genes of QTL for regulating spontaneous arthritis on chromosome 1 in mice deficient for interleukin-1 receptor antagonist. Yanhong Cao Jifei Zhang Yan Jiao Jian Yan Feng Jiao Xiaoyun Liu Robert W. Williams Karen ...

  13. An unusual case of uterine cotyledonoid dissecting leiomyoma with adenomyosis.

    Science.gov (United States)

    Shimizu, Ai; Tanaka, Hoshihito; Iwasaki, Sari; Wakui, Yukio; Ikeda, Hitoshi; Suzuki, Akira

    2016-08-04

    Cotyledonoid dissecting leiomyoma is a rare variant of uterine smooth muscle tumor with an unusual growth pattern that shows intramural dissection within uterine myometrium and often a placenta-like appearance in its extrauterine components. We present a unique case of cotyledonoid dissecting leiomyoma with adenomyosis. A 40-year-old Japanese female presented with prolonged menorrhagia and severe anemia. She had a pelvic mass followed-up for 6 years with a diagnosis of leiomyoma. However, increase in tumor size and cystic changes with hemorrhage were found by magnetic resonance imaging, and total abdominal hysterectomy with bilateral salpingectomy was performed. Macroscopically, the placenta-like exophytic mass protruding from the posterior uterine wall was composed of multiple nodules containing numerous hemorrhagic cysts. The mass showed continuity as a white multinodular dissecting mass infiltrating the posterolateral myometrium. Microscopically, both extra-and intrauterine portions of the mass were composed of nodules that contained swirled neoplastic smooth muscle cells with marked hyalinized degeneration, as observed in cotyledonoid dissecting leiomyomas of conventional type. In addition, numerous non-neoplastic glands of endometrial type surrounded by abundant endometrium-like stromal cells and non-neoplastic smooth muscle cells were found in the tumor, suggesting that it involved a part of concomitant adenomyosis originating from the nontumoral myometrium. Thus far, over 30 cases of cotyledonoid dissecting leiomyoma have been reported, none of which have described the presence of adenomyosis within the tumor. The present case suggested that cotyledonoid dissecting leiomyoma might have a unique clinical presentation involving concomitant uterine adenomyosis. It is critical for pathologists, gynecologists, and radiologists to be cognizant of cotyledonoid dissecting leiomyoma variants for timely and appropriate diagnosis and treatment.

  14. Spontaneous carotid artery dissection causing a juvenile cerebral infarction

    International Nuclear Information System (INIS)

    Trattnig, S.; Huebsch, P.; Schindler, E.

    1988-01-01

    The case of a 19-year-old patient is presented who was admitted with aphasia and hemiparesis due to basal ganglia infarction as a result of spontaneous dissection of the internal carotid artery. The difficulties in diagnosing this disease with CT and MRI in the acute stage are demonstrated. Angiography is still imperative in order to ascertain that a carotid dissection has occurred. (orig.) [de

  15. Cerebral Ischemia Due to Traumatic Carotid Artery Dissection: Case Report

    OpenAIRE

    Deniz Kamacı Şener; Özlem Taşkapılıoğlu; Nermin Kelebek Girgin; Bahattin Hakyemez; Mustafa Bakar; Yakup Tomak

    2012-01-01

    Blunt injury to the neck region may lead to carotid artery dissection and cerebral ischemia. Blunt injury to carotid artery is not frequent but determination of the presence of trauma in the history of stroke patients will provide early diagnosis and treatment of them. In this article, a case with cerebral ischemia resulting from traumatic carotid artery dissection is presented and clinical findings, diagnostic procedures and choice of treatment are discussed in the light of the literature.

  16. Cerebral Ischemia Due to Traumatic Carotid Artery Dissection: Case Report

    Directory of Open Access Journals (Sweden)

    Deniz Kamacı Şener

    2012-12-01

    Full Text Available Blunt injury to the neck region may lead to carotid artery dissection and cerebral ischemia. Blunt injury to carotid artery is not frequent but determination of the presence of trauma in the history of stroke patients will provide early diagnosis and treatment of them. In this article, a case with cerebral ischemia resulting from traumatic carotid artery dissection is presented and clinical findings, diagnostic procedures and choice of treatment are discussed in the light of the literature.

  17. Descending thoracic aorta dissection associated with esophageal carcinoma

    Directory of Open Access Journals (Sweden)

    Kaushik Saha

    2013-01-01

    Full Text Available The association of aortic dissection with a malignancy is a rare finding and previous reports are usually those of primary aortic sarcomas. A 45-year-old male presented to us with chest pain and dysphagia for 1 month with a background history of obstructive airway disease and uncontrolled hypertension. In this report we present a case of typical descending aorta dissection with associated esophageal carcinoma.

  18. False coronary dissection with the new Monorail angioplasty balloon catheter.

    Science.gov (United States)

    Esplugas, E; Cequier, A R; Sabaté, X; Jara, F

    1990-01-01

    During percutaneous transluminal coronary angioplasty, the appearance of persistent staining in the vessel by contrast media suggests coronary dissection. We report seven patients in whom a false image of severe coronary dissection was observed during angioplasty performed with the new Monorail balloon catheter. This image emerges at the moment of balloon inflation, is distally located to the balloon, and disappears with balloon catheter deflation. No complications were associated with the appearance of this image.

  19. Intraoperative monitoring of marginal mandibular nerve during neck dissection.

    Science.gov (United States)

    Tirelli, Giancarlo; Bergamini, Pier Riccardo; Scardoni, Alessandro; Gatto, Annalisa; Boscolo Nata, Francesca; Marcuzzo, Alberto Vito

    2018-05-01

    The purpose of this study was to assess the efficacy of intraoperative nerve integrity monitoring (NIM) to prevent marginal mandibular nerve injuries during neck dissection. This prospective study compared 36 patients undergoing NIM-assisted neck dissection from July 2014 to March 2015 to a cohort of 35 patients subjected to neck dissection over an identical period of time before the technique was introduced. We also assessed possible correlations between marginal mandibular nerve injuries and other factors, such as anthropometric measurements, presence of clinical neck metastases, type of neck dissection, and site of primary tumor. The incidence of marginal mandibular nerve paralyses was significantly lower among the group of patients undergoing NIM-assisted neck dissection (P = .021). There was no significant difference in the duration of the procedure, and the technique resulted in a limited increase of cost. No other factor seemed to influence the onset of marginal mandibular nerve palsy. In our opinion, NIM is a valuable aid for preventing marginal mandibular nerve injuries during neck dissection. © 2018 Wiley Periodicals, Inc.

  20. The outcome of laparoscopic cholecystectomy by ultrasonic dissection.

    LENUS (Irish Health Repository)

    Sasi, Walid

    2010-04-01

    Electrocautery remains the main energy form used for dissection in laparoscopic cholecystectomy. However, due to its many risks the search continues for safer and more efficient forms of energy. This chapter assesses the outcomes of dissection using ultrasonic energy as compared to monopolar electrocautery during laparoscopic cholecystectomy. Studies included are trials of prospectively randomized adult patients with symptomatic gallstone disease subject either ultrasonic or monopolar electrocautery dissection during laparoscopic cholecystectomy. Seven trials were included in this review, with a total patient number of 695 randomized to two dissection methods: 340 in the electrocautery group and 355 in the ultrasonic group. Ultrasonic dissection is shown to be superior to monopolar electrocautery in laparoscopic cholecystectomy. Disadvantages include a difficult maneuvering technique and overall cost. Appropriate training programs may be implemented to overcome the first disadvantage, and it might be argued that given the combined cost of factors associated with standard clip and cautery technique, cost issues may be outweighed by the benefits of ultrasonic dissection. However, this necessitates further cost-benefit analysis.

  1. Rare Presentation of Left Lower Lobe Pulmonary Artery Dissection

    Directory of Open Access Journals (Sweden)

    René Hako

    2017-01-01

    Full Text Available Background. Pulmonary arterial dissection with chronic pulmonary arterial hypertension as its major cause is a very rare but life-threatening condition. In most cases the main pulmonary trunk is the affected site usually without involvement of its branches. Segmental or lobar pulmonary artery dissection is extremely rare. Case Presentation. We report a unique case of left lower lobe pulmonary artery dissection in a 70-year-old male, with confirmed chronic pulmonary hypertension. To confirm dissection MDCT pulmonary angiography was used. Multiplanar reformation (MPR images in sagittal, coronal, oblique sagittal, and curved projections were generated. This case report presents morphologic CT features of rare chronic left lobar pulmonary artery dissection associated with chronic pulmonary hypertension at a place of localised pulmonary artery calcification. CT pulmonary angiography excluded signs of thromboembolism and potential motion or flow artefacts. Conclusion. To the best of our knowledge, no case of lower lobe pulmonary artery dissection with flap calcification has been reported yet. CT imaging of the chest is a key diagnostic tool that is able to detect an intimal flap and a false lumen within the pulmonary arterial tree and is preferred in differential diagnosis of rare complications of sustained pulmonary arterial hypertension.

  2. Symptomatic isolated middle cerebral artery dissection: High resolution MR findings

    Energy Technology Data Exchange (ETDEWEB)

    Byon, Jung Hee; Kwak, Hyo Sung; Chung, Gyung Ho; Hwang, Seung Bae [Dept. of Radiology, Chonbuk National University Medical School, Jeonju (Korea, Republic of)

    2015-11-15

    To perform high-resolution magnetic resonance imaging (HRMRI) and determine clinical features of patients with acute symptomatic middle cerebral artery (MCA) dissection. Thirteen patients with acute symptomatic MCA dissection underwent HRMRI within 3 days after initial clinical onset. They also underwent routine brain MR imaging. HRMRI examinations included time-of-flight MR angiography (MRA), T2-weighted, T1-weighted, proton-density-weighted, and three-dimensional magnetization-prepared rapid acquisition gradient-echo (MPRAGE) sequences. Conventional angiography and MRA were used as reference standard to establish the diagnosis of MCA dissection. The angiographic findings and HRMRI findings such as intimal flap, double lumen, and intramural hematoma were analyzed in this study. All patients presented cerebral ischemia (median National Institutes of Health Stroke Scale score = 4, range = 0-18). String sign was seen on MRA in seven patients. However, double lumen was seen in all patients on HRMRI by intimal flap. High signal lesion on MPRAGE sequences around the dissection lumen due to intramural hematoma was seen in three patients. HRMRI can be used to easily detect the wall structure of MCA such as the intimal flap and double lumen in patients with acute symptomatic MCA dissection. MPRAGE can detect hemorrhage in false lumen of MCA dissection.

  3. Silent Aortic Dissection Presenting as Transient Locked-In Syndrome

    Science.gov (United States)

    Nadour, Wadih; Goldwasser, Brian; Biederman, Robert W.; Taffe, Kevin

    2008-01-01

    Acute aortic dissection is a medical emergency. Without prompt recognition and treatment, the mortality rate is high. An atypical presentation makes timely diagnosis difficult, especially if the patient is experiencing no characteristic pain. Many patients with aortic dissection are reported to have presented with various neurologic manifestations, but none with only a presentation of transient locked-in syndrome. Herein, we report a case of completely painless aortic dissection in a woman who presented with a transient episode of anarthria, quadriplegia, and preserved consciousness. On physical examination, she had a 40-point difference in blood pressure between her left and right arms, and a loud diastolic murmur. The diagnosis of acute aortic dissection was reached via a combination of radiography, computed tomography, echocardiography, and a high index of clinical suspicion. The patient underwent emergency surgery and ultimately experienced a successful outcome. To our knowledge, this is the 1st report of aortic dissection that presented solely as locked-in syndrome. We suggest that silent aortic dissection be added to the differential diagnosis for transient locked-in syndrome. PMID:18941610

  4. Consumption coagulopathy in acute aortic dissection: principles of management.

    Science.gov (United States)

    Liu, Yuyong; Han, Lu; Li, Jiachen; Gong, Ming; Zhang, Hongjia; Guan, Xinliang

    2017-06-12

    The effect of acute aortic dissection itself on coagulopathy or surgery-related coagulopathy has never been specifically studied. The aim of the present study was to perioperatively describe consumption coagulopathy in patients with acute aortic dissection. Sixty-six patients with acute type A aortic dissection were enrolled in this study from January 2015 to September 2016. Thirty-six patients with thoracic aortic aneurysms were used as a control group during the same period. Consumption coagulopathy was evaluated using standard laboratory tests, enzyme-linked immunosorbent assay and thromboelastograghy at five perioperative time-points. A significant reduction in clotting factors and fibrinogen was observed at the onset of acute aortic dissection. Enzyme-linked immunosorbent assay and thromboelastograghy also revealed a persistent systemic activation of the coagulation system and the consumption of clotting factors. In contrast, although platelet counts were consistently low, we did not find that platelet function was more impaired in the acute aortic dissection group than the control group. After surgery, clotting factors and fibrinogen were more impaired than platelet function. Thus, we proposed that hemostatic therapy should focus on the rapid and sufficient supplementation of clotting factors and fibrinogen to improve consumption coagulopathy in patients with acute aortic dissection.

  5. Medical Student Dissection of CadaversImproves Performance on Practical Exams, but not Dissection-Relevant Questions in the NBME Gross Anatomy and Embryology Final Exam

    Directory of Open Access Journals (Sweden)

    Leslie Sargent Jones

    2001-03-01

    Full Text Available We have examined whether cadaver dissection by first year medical students (MIs affected their performance in two test measures: the NBME Gross Anatomy and Embryology Subject Exam (dissection-relevant questions only, and practical exams given at the end of each major section within the course. The dissections for the entire course were divided into 18 regional dissection units and each student was assigned to dissect one third of the regional units; the other two-thirds of the material was learned from the partner-prosected cadavers. Performance for each student on the exams was then assessed as a function of the regions those students actually dissected. While the results indicated a small performance advantage for MIs answering questions on material they had dissected on the NBME Subject Exam questions relevant to dissection (78-88% of total exam, the results were not statistically significant. However, a similar, small performance advantage on the course practical exams was highly significant.

  6. Harmonic Scalpel versus Electrocautery Dissection in Modified Radical Mastectomy for Breast Cancer: A Meta-Analysis.

    Science.gov (United States)

    Huang, Jinbo; Yu, Yinghua; Wei, Changyuan; Qin, Qinghong; Mo, Qinguo; Yang, Weiping

    2015-01-01

    Despite the common use of conventional electrocautery in modified radical mastectomy for breast cancer, the harmonic scalpel is recently emerging as a dominant surgical instrument for dissection and haemostasis, which is thought to reduce the morbidity, such as seroma and blood loss. But the results of published trials are inconsistent. So we made the meta-analysis to assess the intraoperative and postoperative endpoints among women undergoing modified radical mastectomy with harmonic scalpel or electrocautery. A comprehensive literature search of case-control studies from PubMed, MEDLINE, EMBASE and Cochrane Library databases involving modified radical mastectomy with harmonic scalpel or electrocautery was performed. We carried out a meta-analysis of primary endpoints including postoperative drainage, seroma development, intraoperative blood loss and secondly endpoints including operative time and wound complications. We used odds ratios (ORs) with 95% confidence intervals (CIs) to evaluate the effect size for categorical outcomes and standardised mean differences (SMDs) for continuous outcomes. A total of 11 studies with 702 patients were included for this meta-analysis. There was significant difference in total postoperative drainage (SMD: -0.74 [95%CI: -1.31, -0.16]; Pelectrocautery in modified radical mastectomy for breast cancer. No difference was found as for operative time between harmonic scalpel dissection and standard electrocautery (SMD: 0.04 [95%CI: -0.41, 0.50]; P = 0.85). Compared to standard electrocautery, harmonic scalpel dissection presents significant advantages in decreasing postoperative drainage, seroma development, intraoperative blood loss and wound complications in modified radical mastectomy for breast cancer, without increasing operative time. Harmonic scalpel can be recommended as a preferential surgical instrument in modified radical mastectomy.

  7. Internal carotid artery dissection in a patient with Ehlers-Danlos syndrome type IV: diagnosis and management

    Directory of Open Access Journals (Sweden)

    Michel Nasser

    2013-06-01

    Full Text Available Ehlers-Danlos syndrome (EDS type IV, also known as vascular EDS, is an inherited connective tissue disorder with an estimated prevalence of 1/100,000 to 1/250,000. In EDS type IV, vascular complications may affect all anatomical areas, with a preference for large- and medium-sized arteries. Dissections of the vertebral and carotid arteries in their extra- and intra-cranial segments are typical. The authors report the case of a patient with EDS type IV for whom the diagnosis was established based on clinical signs and who developed internal carotid artery dissection at the age of 44 years. In the absence of a specific treatment for EDS type IV, medical interventions should focus on symptomatic relief, prophylactic measures, and genetic counseling. Invasive imaging techniques are contraindicated, and a conservative approach to vascular complications is usually recommended.

  8. Dissection of vertebrate hematopoiesis using zebrafish thrombopoietin

    Czech Academy of Sciences Publication Activity Database

    Svoboda, Ondřej; Stachura, D.L.; Machoňová, Olga; Pajer, Petr; Brynda, Jiří; Zon, L.I.; Traver, D.; Bartůněk, Petr

    2014-01-01

    Roč. 124, č. 2 (2014), s. 220-228 ISSN 0006-4971 R&D Projects: GA ČR GAP305/10/0953 Grant - others:NIH(US) K01-DK087814-01A1; NIH(US) R01-DK074482 Keywords : Zebrafish * hematopoiesis * progenitors * thrombopoietin * erythropoietin Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 10.452, year: 2014

  9. Dissecting the mechanisms of Notch induced hyperplasia

    Czech Academy of Sciences Publication Activity Database

    Djiane, A.; Krejčí, Alena; Bernard, F.; Fexová, S.; Millen, K.; Bray, S. J.

    2013-01-01

    Roč. 32, č. 1 (2013), s. 60-71 ISSN 0261-4189 Grant - others:MRC Programme(GB) G0800034/1; Wellcome Trust(GB) WT083576MA Institutional support: RVO:60077344 Keywords : chromatin immunoprecipitation * Drosophila * gene expression Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 10.748, year: 2013 http://www.nature.com/emboj/journal/v32/n1/pdf/emboj2012326a.pdf

  10. Spontaneous vertebral dissection: Clinical, conventional angiographic, CT, and MR findings

    Energy Technology Data Exchange (ETDEWEB)

    Provenzale, J.M.; Morgenlander, J.C. [Duke Univ. Medical Center, Durham, NC (United States); Gress, D. [Univ. of California, San Francisco, CA (United States)

    1996-03-01

    The purpose of this study was to determine if typical clinical and neuroradiologic patterns exist in patients with spontaneous vertebral artery (VA) dissection. The medical records and neuroradiologic examinations of 14 patients with spontaneous VA dissection were reviewed. The medical records were examined to exclude patients with a history of trauma and to record evidence of a nontratimatic precipitating event ({open_quotes}trivial trauma{close_quotes}) and presence of possible risk factors such as hypertension. All patients under-went conventional angiography, 13 either CT or MRI (II both CT and MRI), and 3 MRA. Conventional arteriograrris were evaluated for dissection site, evidence of fibromuscular dysplasia, luminal stenosis or occlusion, and pseudoaneurysm formation, CT examinations for the presence of infarction or subarachnoid hemorrhage, MR examinations for the presence of infarction or arterial signal abnormality, and MR angiograms for abnormality of the arterial signal column. Seven patients had precipitating events within 24 h of onset of symptoms that may have been causative of dissection and five had hypertension. At catheter angiography, two patients had dissections in two arteries (both VAs in one patient, VA and internal carotid artery in one patient), giving a total of 15 VAs with dissection. Dissection sites included V1 in four patients, V2 in one patient, V3 in three patients, V4 in six patients, and both V3 and V4 in one patient. Luminal stenosis was present in 13 VAs, occlusion in 2, pseudoaneurysm in 1, and evidence of fibromuscular dysplasia in 1. Posterior circulation infarcts were found on CT or MR in five patients. Subarachnoid hemorrhage was found on CT in two patients and by lumbar puncture alone in two patients. Abnormal periarterial signal on MRI was seen in three patients. MRA demonstrated absent VA signal in one patient, pseudoaneurysm in one, and a false-negative examination in one.

  11. Monopolar electrodissection versus cold dissection tonsillectomy among children

    International Nuclear Information System (INIS)

    Bukhari, Manal A.; Al-Ammar, Ahmed Y.

    2007-01-01

    To compare cold dissection to monopolar tonsillectomy in terms of operative time, intraoperative bleeding, post operative bleeding. The study included 100 children who underwent tonsillectomy between January 2002 and January 2004. This study was carried out at King Abdul-Aziz University Hospital, Riyadh, Kingdom of Saudi Arabia. Patients were randomly selected to have either the right or left tonsils removed by either technique (cold dissection or monopolar dissection technique). We compared both techniques in each side on the same patient. There was no significant difference in operative time between both sides by either technique, however, when the patients were grouped into 3 minute groups, the result showed that a greater number of patients were operated up on <-3 minutes by diathermy procedure compared to dissection method (44 versus 67) (p=0.0011). Blood loss was minimal with the diathermy technique, averaging 25.37 ml compared to 88.5 for cold dissection tonsillectomy. There was a significant increase in postoperative pain on the first postoperative day in the diathermy group compared to the cold dissection group (27% versus 12%) (p=0.0151). However, there was no significant difference in pain between both sides in the first 24 hours and from the 2nd to 10th postoperative days. Monopolar dissection tonsillectomy is a safe technique. It significantly reduces the operative time and intraoperative blood loss. However, it causes more pain on the 1st postoperative day, while on the rest of the days until the 10th postoperative day, there was no significant difference in pain between two sides. (author)

  12. Endoscopic submucosal dissection for early Barrett's neoplasia.

    Science.gov (United States)

    Barret, Maximilien; Cao, Dalhia Thao; Beuvon, Frédéric; Leblanc, Sarah; Terris, Benoit; Camus, Marine; Coriat, Romain; Chaussade, Stanislas; Prat, Frédéric

    2016-04-01

    The possible benefit of endoscopic submucosal dissection (ESD) for early neoplasia arising in Barrett's esophagus remains controversial. We aimed to assess the efficacy and safety of ESD for the treatment of early Barrett's neoplasia. All consecutive patients undergoing ESD for the resection of a visible lesion in a Barrett's esophagus, either suspicious of submucosal infiltration or exceeding 10 mm in size, between February 2012 and January 2015 were prospectively included. The primary endpoint was the rate of curative resection of carcinoma, defined as histologically complete resection of adenocarcinomas without poor histoprognostic factors. Thirty-five patients (36 lesions) with a mean age of 66.2 ± 12 years, a mean ASA score of 2.1 ± 0.7, and a mean C4M6 Barrett's segment were included. The mean procedure time was 191 ± 79 mn, and the mean size of the resected specimen was 51.3 ± 23 mm. En bloc resection rate was 89%. Lesions were 12 ± 15 mm in size, and 81% (29/36) were invasive adenocarcinomas, six of which with submucosal invasion. Although R0 resection of carcinoma was 72.4%, the curative resection rate was 66% (19/29). After a mean follow-up of 12.9 ± 9 months, 16 (45.7%) patients had required additional treatment, among whom nine underwent surgical resection, and seven further endoscopic treatments. Metachronous lesions or recurrence of cancer developed during the follow-up period in 17.2% of the patients. The overall complication rate was 16.7%, including 8.3% perforations, all conservatively managed, and no bleeding. The 30-day mortality was 0%. In this early experience, ESD yielded a moderate curative resection rate in Barrett's neoplasia. At present, improvements are needed if ESD is to replace piecemeal endoscopic mucosal resection in the management of Barrett's neoplasia.

  13. Epidemiology of aortic disease - aneurysm, dissection, occlusion

    International Nuclear Information System (INIS)

    Steckmeier, B.

    2001-01-01

    The physiological infrarenal aortic diameter varies between 12.4 mm in women an 27.6 mm in men. As defined, an aneurysmatic dilatation begins with 29 mm. According to that, 9% of all people above the age of 65 are affected by an abdominal aortic aneurysm (AAA). Compared with the female sex, the male sex predominates at a rate of about 5:1. The disease is predominant in men of the white race. In black men, black and white women the incidence of AAA is identical. 38 to 50 percent of the AAA patients (patients) suffer from hypertension, 33 to 60% from coronary, 28% from cerebrovascular and 25% from peripheral occlusive disease. The AAA expansion rate varies between 0.2 and 0.8 cm per year and is exponential from a diameter of 5 cm on. In autopsy studies, the rupture rates with AAA diameters of 7 cm were below 5%, 39% and 65%, respecitvely. 70% of the AAA patients do not die of a rupture, but of a cardiac disease. Serum markers, such as metalloproteinases and procollagen peptides are significantly increased in AAA patients. Thoraco-abdominal aneurysms (TAA) make up only 2 to 5% of all degenerative aneurysms. 20 to 30% of the TAA patients are also affected by an AAA. 80% of the TAA are degenerative, 15 to 20% are a consequence of the chronic dissection - including 5% of Marfan patients -, 2% occur in case of infections and 1 to 2% in case of aortitis. The TAA incidence in 100,000 person-years is 5.9% during a monitoring period of 30 years. In case of TAA, an operation is indicated with a maximum diameter of 5.5 to 6 cm and more and, in case of a Marfan's syndrome (incidence of 1:10,000), with a maximum diameter of 5.5 cm and more. With regard to aorto-iliac occlusive diseases, there are defined 3 types of distribution. Type I refers to the region of the bifurcation itself. Type II defines the diffuse aortoiliac spread of the disease. Type III designates multiple-level occlusions also beyond the inguinal ligament. Type I patients in most cases are female and more

  14. "And afterwards your body to be given for public dissection": a history of the murderers dissected in Glasgow and the west of Scotland.

    Science.gov (United States)

    Kennedy, S S; McLeod, K J; McDonald, S W

    2001-02-01

    Between 1752 and 1832, the bodies of hanged murderers were dissected or gibbeted. During this period, 38 murderers were executed in the West of Scotland. The bodies of at least 23 were dissected in Glasgow. The stories of these murders are recounted. Insight is also given into the attitudes of the public and the anatomists to dissection of executed murderers.

  15. A comparison of retention of anatomical knowledge in an introductory college biology course: Traditional dissection vs. virtual dissection

    Science.gov (United States)

    Taeger, Kelli Rae

    Dissection has always played a crucial role in biology and anatomy courses at all levels of education. However, in recent years, ethical concerns, as well as improved technology, have brought to the forefront the issue of whether virtual dissection is as effective or whether it is more effective than traditional dissection. Most prior research indicated the two methods produced equal results. However, none of those studies examined retention of information past the initial test of knowledge. Two groups of college students currently enrolled in an introductory level college biology course were given one hour to complete a frog dissection. One group performed a traditional frog dissection, making cuts in an actual preserved frog specimen with scalpels and scissors. The other group performed a virtual frog dissection, using "The Digital Frog 2" software. Immediately after the dissections were completed, each group was given an examination consisting of questions on actual specimens, pictures generated from the computer software, and illustrations that neither group had seen. Two weeks later, unannounced, the groups took the same exam in order to test retention. The traditional dissection group scored significantly higher on two of the three sections, as well as the total score on the initial exam. However, with the exception of specimen questions (on which the traditional group retained significantly more information), there was no significant difference in the retention from exam 1 to exam 2 between the two groups. These results, along with the majority of prior studies, show that the two methods produce, for the most part, the same end results. Therefore, the decision of which method to employ should be based on the goals and preferences of the instructor(s) and the department. If that department's goals include: Being at the forefront of new technology, increasing time management, increasing student: teacher ratio for economic reasons, and/or ethical issues, then

  16. Marfan syndrome: pathologic features of aneurysm with dissection and aortic dissection

    Directory of Open Access Journals (Sweden)

    R. K. Zhuraev

    2012-08-01

    Full Text Available The article presents the pathologic changes in the aortic wall in patients with MFS (three men at the age of 25, 27, 35 years operated on the aneurysm with dissection of the ascending aorta. Morphological changes in the middle of the shell of the aorta in patients with MFS were characterized by severe restructuring with profound irreversible alterative changes in all of its components. The pathological process captured media of the aorta throughout its entire length, not just in the areas of rupture and separation. The main pathomorphological signs of MFS were the focal accumulation of mucoid substances, ribbon-like nuclear-free zones, degenerative changes in smooth muscle cells, the formation of cystic media degeneration cavities, changes in elastic fibers - fragmentation, hyperelastosis, multiplication, thinning and straightening, areas of significant elastolysis. Multiple CMD was detected in all patients with MFS, the changes revealed the same type, but at different stages of the process.

  17. Genetic effects

    International Nuclear Information System (INIS)

    Bender, M.A.; Abrahamson, S.; Denniston, C.; Schull, W.J.

    1989-01-01

    In this chapter, we present a comprehensive analysis of the major classes of genetic diseases that would be increased as a result of an increased gonadal radiation exposure to a human population. The risk analysis takes on two major forms: the increase in genetic disease that would be observed in the immediate offspring of the exposed population, and the subsequent transmission of the newly induced mutations through future generations. The major classes of genetic disease will be induced at different frequencies, and will also impact differentially in terms of survivability and fertility on the affected individuals and their descendants. Some classes of disease will be expected to persist for only a few generations at most. Other types of genetic disease will persist through a longer period. The classes of genetic diseases studied are: dominant gene mutation, X-linked gene mutation, chromosome disorders and multifactorial disorders which involve the interaction of many mutant genes and environmental factors. For each of these classes we have derived the general equations of mutation induction for the male and female germ cells of critical importance in the mutation process. The frequency of induced mutations will be determined initially by the dose received, the type of radiation and, to some extent at high dose, by the manner in which the dose is received. We have used the modeling analyses to predict the outcomes for two nuclear power plant accident scenarios, the first in which the population receives a chronic dose of 0.1 Gy (10 rad) over a 50-year period, the second in which an equivalent population receives an acute dose of 2 Gy. In both cases the analyses are projected over a period of five generations

  18. Contemporary insights into the management of type A aortic dissection.

    Science.gov (United States)

    Tolis, George; Sundt, Thoralf M

    2016-10-01

    Acute Type A Dissection remains a surgical emergency with a relatively high operative mortality despite advances in cardiac surgical techniques and medical management over the past thirty years. In this presentation we will discuss the issues surrounding diagnosis, triage, surgical treatment and perioperative medical management as well as long term surveillance of patients suffering from Acute Type A Dissection and present the literature that supports our management strategies. Expert commentary: The ultimate goal of surgical intervention for patients with Type A Acute Aortic Dissection is an alive patient. A more complicated operation which addresses the root and arch and potentially reduces late complications should be approached with caution since it may increase the operative mortality of the procedure itself. With the recent evolution in endovascular techniques, there is hope that later complications can be reduced without increasing the risk of the primary operation. It remains to be seen whether the improved distal aortic remodeling afforded by a combined open/endovascular approach to Acute Type A Dissection will lead to decreased need for aortic reinterventions and overall long term complications of a residual descending thoracic chronic dissection.

  19. Planned neck dissection for oropharyngeal and hypopharyngeal cancers

    International Nuclear Information System (INIS)

    Hanai, Nobuhiro; Hasegawa, Yasuhisa; Terada, Akihiro; Ozawa, Taijiro; Hirakawa, Hitoshi; Kawakita, Daisuke; Maruo, Takashi; Mikami, Shinnji

    2010-01-01

    Recently, the use of chemoradiotherapy for preserving organs in the treatment of head and neck cancer is increasing. However, there is controversy about advanced neck node management in post-chemoradiation cases. We retrospectively analyzed our 119 cases of chemoradiotherapy for oropharyngeal and hypopharyngeal cancer to examine the effectiveness and indications of planned neck dissection. Regional control rate and survival rate were superior in the neck dissection group. If the cases did not achieve complete response (CR) in imaging, planned neck dissection improved the regional control rate significantly. We should perform planned neck dissection immediately rather than 'wait and see' for this persistent disease. However, in the cases achieving radiological CR, it is possible to omit planned neck dissection because of the high salvage rate of neck disease. However, in these cases, careful observation is essential. We clarified that the presence of pathologically positive lymph node is a prognostic factor. For evaluating persistent disease of cervical lymph nodes, positron emission tomography (PET)-CT was the most accurate method of imaging. (author)

  20. Blood groups and acute aortic dissection type III.

    Science.gov (United States)

    Fatic, Nikola; Nikolic, Aleksandar; Vukmirovic, Mihailo; Radojevic, Nemanja; Zornic, Nenad; Banzic, Igor; Ilic, Nikola; Kostic, Dusan; Pajovic, Bogdan

    2017-04-01

    Acute aortic type III dissection is one of the most catastrophic events, with in-hospital mortality ranging between 10% and 12%. The majority of patients are treated medically, but complicated dissections, which represent 15% to 20% of cases, require surgical or thoracic endovascular aortic repair (TEVAR). For the best outcomes adequate blood transfusion support is required. Interest in the relationship between blood type and vascular disease has been established. The aim of our study is to evaluate distribution of blood groups among patients with acute aortic type III dissection and to identify any kind of relationship between blood type and patient's survival. From January 2005 to December 2014, 115 patients with acute aortic type III dissection were enrolled at the Clinic of Vascular and Endovascular Surgery in Belgrade, Serbia and retrospectively analyzed. Patients were separated into two groups. The examination group consisted of patients with a lethal outcome, and the control group consisted of patients who survived. The analysis of the blood groups and RhD typing between groups did not reveal a statistically significant difference ( p = 0.220). Our results indicated no difference between different blood groups and RhD typing with respect to in-hospital mortality of patients with acute aortic dissection type III.

  1. Measuring medical students' motivation to learning anatomy by cadaveric dissection.

    Science.gov (United States)

    Abdel Meguid, Eiman M; Khalil, Mohammed K

    2017-07-01

    Motivation and learning are inter-related. It is well known that motivating learners is clearly a complex endeavor, which can be influenced by the educational program and the learning environment. Limited research has been conducted to examine students' motivation as a method to assess the effectiveness of dissection in medical education. This study aimed to assess and analyze students' motivation following their dissection experience. A 29-item survey was developed based on the Attention, Relevance, Confidence, and Satisfaction model of motivation. Descriptive statistics were undertaken to describe students' motivation to the dissection experience. T-test and ANOVA were used to compare differences in motivational scores between gender and educational characteristics of students. Dissection activities appear to promote students' motivation. Gender difference was statistically significant as males were more motivated by the dissection experience than females. Comparison between students with different knowledge of anatomy was also significantly different. The study is an important step in the motivational design to improve students' motivation to learn. The outcome of this study provides guidance to the selection of specific strategies to increase motivation by generating motivational strategies/tactics to facilitate learning. Anat Sci Educ 10: 363-371. © 2016 American Association of Anatomists. © 2016 American Association of Anatomists.

  2. Harmonic Scalpel versus Electrocautery Dissection in Modified Radical Mastectomy for Breast Cancer: A Meta-Analysis.

    Directory of Open Access Journals (Sweden)

    Jinbo Huang

    Full Text Available Despite the common use of conventional electrocautery in modified radical mastectomy for breast cancer, the harmonic scalpel is recently emerging as a dominant surgical instrument for dissection and haemostasis, which is thought to reduce the morbidity, such as seroma and blood loss. But the results of published trials are inconsistent. So we made the meta-analysis to assess the intraoperative and postoperative endpoints among women undergoing modified radical mastectomy with harmonic scalpel or electrocautery.A comprehensive literature search of case-control studies from PubMed, MEDLINE, EMBASE and Cochrane Library databases involving modified radical mastectomy with harmonic scalpel or electrocautery was performed. We carried out a meta-analysis of primary endpoints including postoperative drainage, seroma development, intraoperative blood loss and secondly endpoints including operative time and wound complications. We used odds ratios (ORs with 95% confidence intervals (CIs to evaluate the effect size for categorical outcomes and standardised mean differences (SMDs for continuous outcomes.A total of 11 studies with 702 patients were included for this meta-analysis. There was significant difference in total postoperative drainage (SMD: -0.74 [95%CI: -1.31, -0.16]; P< 0.01, seroma development[OR: 0.49 (0.34, 0.70; P < 0.01], intraoperative blood loss(SMD: -1.14 [95%CI: -1.81,-0.47]; P < 0.01 and wound complications [OR: 0.38 (0.24, 0.59; P < 0.01] between harmonic scalpel dissection and standard electrocautery in modified radical mastectomy for breast cancer. No difference was found as for operative time between harmonic scalpel dissection and standard electrocautery (SMD: 0.04 [95%CI: -0.41, 0.50]; P = 0.85.Compared to standard electrocautery, harmonic scalpel dissection presents significant advantages in decreasing postoperative drainage, seroma development, intraoperative blood loss and wound complications in modified radical mastectomy for

  3. Chronic dissection of the superior mesenteric artery: case report

    International Nuclear Information System (INIS)

    Common, A.A.; Pressacco, J.

    1999-01-01

    Acute dissection of the thoracic aorta is a well-recognized, often fatal condition that frequently extends to involve the abdominal aorta and iliac vessels. The ostia of the renal and mesenteric vessels may be compromised, and the resulting visceral ischemia may necessitate surgical intervention. However, visceral perfusion may be restored if blood flow from true to false lumen is re-established or if the false lumen is obliterated, either spontaneously or by surgical or interventional techniques. Isolated dissections of mesenteric, renal, and carotid vessels are rarely reported. These may be spontaneous, related to high blood pressure and underlying disease of the vessel wall, or caused by abdominal trauma or medical intervention, including angiographic procedures. They are usually associated with pain and other signs and symptoms of ischemia in the appropriate territory. We present a case of chronic superior mesenteric artery (SMA) dissection, an incidental angiographic finding, in an asymptomatic patient being evaluated for resection of an abdominal aortic aneurysm (AAA). (author)

  4. Chronic dissection of the superior mesenteric artery: case report

    Energy Technology Data Exchange (ETDEWEB)

    Common, A.A.; Pressacco, J. [Univ. of Toronto, St. Michael' s Hospital, Dept. of Medical Imaging, Toronto, Ontario (Canada)

    1999-02-01

    Acute dissection of the thoracic aorta is a well-recognized, often fatal condition that frequently extends to involve the abdominal aorta and iliac vessels. The ostia of the renal and mesenteric vessels may be compromised, and the resulting visceral ischemia may necessitate surgical intervention. However, visceral perfusion may be restored if blood flow from true to false lumen is re-established or if the false lumen is obliterated, either spontaneously or by surgical or interventional techniques. Isolated dissections of mesenteric, renal, and carotid vessels are rarely reported. These may be spontaneous, related to high blood pressure and underlying disease of the vessel wall, or caused by abdominal trauma or medical intervention, including angiographic procedures. They are usually associated with pain and other signs and symptoms of ischemia in the appropriate territory. We present a case of chronic superior mesenteric artery (SMA) dissection, an incidental angiographic finding, in an asymptomatic patient being evaluated for resection of an abdominal aortic aneurysm (AAA). (author)

  5. Cotyledonoid dissecting leiomyoma of the uterus: a case report

    Directory of Open Access Journals (Sweden)

    Rollason Terence P

    2007-06-01

    Full Text Available Abstract Cotyledonoid dissecting leiomyoma of the uterus is a recently described rare variant of benign uterine leiomyoma. We report a case of cotyledonoid dissecting leiomyoma in a 52 year old woman who presented with menorrhagia and abdominal pain. An ultrasound scan showed a bulky uterus and a cystic heterogenous mass near the left ovary. At hysterectomy, the left broad ligament mass was removed. This was continuous with an ill-defined nodular area in the myometrial fundus. Microscopy revealed a benign smooth muscle proliferation in the myometrium that extended beyond the uterus and into the broad ligament. The lesion appeared to be dissecting the myometrial fibres and showed areas of oedema, hyalinisation and perinodular hydropic change. Cellular atypia, mitoses and coagulative necrosis were absent. The patient is alive and well 18 months after surgery. It is important to recognize this benign and unusual appearing variant of leiomyoma in order to prevent inappropriate treatment.

  6. Digital dissection system for medical school anatomy training

    Science.gov (United States)

    Augustine, Kurt E.; Pawlina, Wojciech; Carmichael, Stephen W.; Korinek, Mark J.; Schroeder, Kathryn K.; Segovis, Colin M.; Robb, Richard A.

    2003-05-01

    As technology advances, new and innovative ways of viewing and visualizing the human body are developed. Medicine has benefited greatly from imaging modalities that provide ways for us to visualize anatomy that cannot be seen without invasive procedures. As long as medical procedures include invasive operations, students of anatomy will benefit from the cadaveric dissection experience. Teaching proper technique for dissection of human cadavers is a challenging task for anatomy educators. Traditional methods, which have not changed significantly for centuries, include the use of textbooks and pictures to show students what a particular dissection specimen should look like. The ability to properly carry out such highly visual and interactive procedures is significantly constrained by these methods. The student receives a single view and has no idea how the procedure was carried out. The Department of Anatomy at Mayo Medical School recently built a new, state-of-the-art teaching laboratory, including data ports and power sources above each dissection table. This feature allows students to access the Mayo intranet from a computer mounted on each table. The vision of the Department of Anatomy is to replace all paper-based resources in the laboratory (dissection manuals, anatomic atlases, etc.) with a more dynamic medium that will direct students in dissection and in learning human anatomy. Part of that vision includes the use of interactive 3-D visualization technology. The Biomedical Imaging Resource (BIR) at Mayo Clinic has developed, in collaboration with the Department of Anatomy, a system for the control and capture of high resolution digital photographic sequences which can be used to create 3-D interactive visualizations of specimen dissections. The primary components of the system include a Kodak DC290 digital camera, a motorized controller rig from Kaidan, a PC, and custom software to synchronize and control the components. For each dissection procedure, the

  7. Pain as the only manifestation of internal carotid artery dissection.

    Science.gov (United States)

    Biousse, V; Woimant, F; Amarenco, P; Touboul, P J; Bousser, M G

    1992-10-01

    Internal carotid artery dissection is a major cause of ischemic stroke in the young. Pain is the leading symptom and is associated with other focal signs such as Horner's syndrome and painful tinnitus or with signs of cerebral or retinal ischemia. We report two patients with angiographically confirmed extracranial internal carotid artery dissection presenting with cephalic pain as the only manifestation. The first patient had a diffuse headache and a latero-cervical pain lasting for 12 days, reminiscent of carotidynia. The second patient experienced an exploding headache suggestive of subarachnoid hemorrhage, which was ruled out by computed tomography of the head and cerebrospinal fluid study. These patients demonstrate that recognition of carotid artery dissection as a cause of carotidynia and headache suggestive of subarachnoid hemorrhage may permit an earlier diagnosis and possibly the prevention of a stroke through the use of anticoagulation.

  8. Blunt apical dissection during anatomic radical retropubic prostatectomy

    Directory of Open Access Journals (Sweden)

    Yacoub Saif

    2009-02-01

    Full Text Available Abstract Background Meticulous apical dissection during a radical prostatectomy is imperative to achieve desirable pathologic and quality of life outcomes. Findings We describe a novel technique using careful blunt dissection to better delineate the apex of the prostate, providing a simple means to potentially lessen positive surgical margins at the apex and promote better continence and erectile function in men undergoing an anatomic radical prostatectomy. Median operative time and blood loss were 190 minutes and 675 mL, respectively. Only 10 percent of the patients with positive surgical margins were found to have apical positive surgical margins. Ninety-three percent of patients reported no urinary leakage. Conclusion We believe our technique of isolating the DVC with blunt dissection and then ligating and transecting the DVC to be feasible approach that requires larger studies to truly confirm its utility.

  9. Nested dissection on a mesh-connected processor array

    International Nuclear Information System (INIS)

    Worley, P.H.; Schreiber, R.

    1986-01-01

    The authors present a parallel implementation of Gaussian elimination without pivoting using the nested dissection ordering for solving Ax=b where A is an N x N symmetric positive definite matrix. If the graph of A is a √N x √N finite element mesh then a parallel complexity of O(√N) can be achieved for Gaussian elimination with the nested dissection ordering. The authors' implementation achieves this parallel complexity on a two dimensional MIMD processor array with N processors and nearest neighbors interconnections. Thus nested dissection is a near optimal algorithm for this problem on this interconnection topology. The parallel implementation on this architecture requires 158√N + O(log/sub 2/(√N)) parallel floating point multiplications. It is faster than a Kung-Leiserson systolic array for banded matrices for N≥961, and faster than a serial implementation for N as small as 9

  10. The birth and evolution of neuroscience through cadaveric dissection.

    Science.gov (United States)

    Moon, Karam; Filis, Andreas K; Cohen, Alan R

    2010-09-01

    Although interest in the art of dissection and vivisection has waxed and waned throughout the ages, the past century has seen it accepted as commonplace in medical schools across the country. No other practice in medicine has contributed more to the understanding of neuroanatomy and the neurosciences as dissection of the human cadaver, the origins of which are widely documented to have been in Alexandrian Greece. This article chronicles the fascinating and often controversial use of dissection and vivisection in these fields through the ages, beginning with Herophilus of Alexandria, among the first systematic dissectors in the history of Western medicine. The authors comment on its role in the development of modern neurosurgery and conclude with remarks about use of this educational tool today in the United States.

  11. Free manual of cadaver dissection modifiable by other anatomists.

    Science.gov (United States)

    Chung, Beom Sun; Chung, Min Suk

    2015-06-01

    Even in the rapidly changing field of cadaver dissection, published guide books still play an important role in the anatomy lab. However, commercial manuals with lengthy volumes and inflexible copyrights have several limitations which can be complemented by open-source manuals. Recently, the authors have manufactured and distributed a free electronic dissection manual (anatomy.co.kr), where descriptions are written concisely and images are drawn schematically. Moreover, simplified signs are employed to represent the cadaver viewing angles and manner of dissection. Based on the original files of this manual, other anatomists can revise and utilize the descriptions and figures. We expect many updated versions of our manual to be shared between students all over the world.

  12. Cervical artery dissection: early recognition and stroke prevention [digest].

    Science.gov (United States)

    Cadena, Rhonda; Kim, Jeremy

    2016-07-22

    Cervical artery dissections involve the carotid or vertebral arteries. Although the overall incidence is low, they remain a common cause of stroke in children, young adults, and trauma patients. Symptoms such as headache, neck pain, and dizziness are commonly seen in the emergency department, but may not be apparent in the obtunded trauma patient. A missed diagnosis of cervical artery dissection can result in devastating neurological sequelae, so emergency clinicians must act quickly to recognize this event and begin treatment as soon as possible while neurological consultation is obtained. This issue reviews the evidence in applying advanced screening criteria and choosing imaging and antithrombotic treatment strategies for patients with cervical artery dissections to reduce the occurrence of ischemic stroke. [Points & Pearls is a digest of Emergency Medicine Practice].

  13. Clinical and radiological evaluation in vertebral artery dissections

    Directory of Open Access Journals (Sweden)

    Murat Çabalar

    2013-04-01

    Full Text Available In recent years, vertebral artery dissection (VAD is reported more frequently as a cause of young cerebrovascular accidents. It can occur spontaneously or following a neck manipulation and trauma. The patients were 3 females (mean age: 35±26 years and 7 males (mean age: 37.71±4.96 years. Only 2 patients described neck trauma. Cerebellar findings were prominent in all cases. On radiological investigation, vascular changes of vertebral arteries were detected bilaterally in 2 cases, right in 5 and left in 3 cases. All the cases were treated with anticoagulant therapy and cured but 1 with sequela. Prognosis of vertebral artery dissection is generally good by early diagnosis and treatment. In this article, we reported clinical and radiological properties of 10 vertebral artery dissection cases.

  14. Spontaneous coronary artery dissection associated with apical hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Tuncer, M.; Gumrukcuoglu, H.A.; Ekim, H.; Gunes, Y.; Simsek, H.

    2010-01-01

    Apical hypertrophic cardiomyopathy (HCM) is a relatively uncommon inherited disease. Spontaneous coronary artery dissection (SCAD) is also uncommonly observed, which often occurs in pregnant or post partum women but is rare in men. This report describes a 38 years old man with apical hypertrophic cardiomyopathy who developed SCAD leading to acute inferior myocardial infarction. After emergent appendectomy operation at another hospital, he was immediately transferred to the Cardiology Department of our hospital due to acute myocardial infarction. He emergently underwent coronary angiography which showed a long dissection involving the right coronary. He underwent an emergent CABG with cardiopulmonary bypass. Postoperative recovery was uneventful and he was discharged. According to our knowledge, no case of spontaneous coronary artery dissection associated with apical hypertrophic cardiomyopathy unrelated to postpartum period or oral contraceptive use has been reported so far. (author)

  15. Spontaneous dissecting aneurysm of the extracranial vertebral artery (20 cases)

    Energy Technology Data Exchange (ETDEWEB)

    Chiras, J; Marciano, S; Vega Molina, J; Touboul, J; Poirier, B; Bories, J

    1985-07-01

    Spontaneous dissecting aneurysm of the vertebral artery is an infrequent cause of vertebro basilar ischemic strokes. Previously reported cases concern essentially occlusion of the basilar artery. Only 14 cases of spontaneous dissecting aneurysm concern the extracranial vertebral artery among these eight were angiographically documented. In this study based upon 15 patients (20 dissecting aneurysms), the authors discuss etiological factors, such as hypertension or fibromuscular dysplasia: on clinical findings they insist upon the diagnostic value of preliminary symptoms, cervical pain or posterior headaches; the most frequent angiographic appearance was a long and irregular stenosis of one or two segments of the vertebral artery. The prognosis of these aneurysms most often appears favourable in this group.

  16. Are all hands-on activities equally effective? Effect of using plastic models, organ dissections, and virtual dissections on student learning and perceptions.

    Science.gov (United States)

    Lombardi, Sara A; Hicks, Reimi E; Thompson, Katerina V; Marbach-Ad, Gili

    2014-03-01

    This study investigated the impact of three commonly used cardiovascular model-assisted activities on student learning and student attitudes and perspectives about science. College students enrolled in a Human Anatomy and Physiology course were randomly assigned to one of three experimental groups (organ dissections, virtual dissections, or plastic models). Each group received a 15-min lecture followed by a 45-min activity with one of the treatments. Immediately after the lesson and then 2 mo later, students were tested on anatomy and physiology knowledge and completed an attitude survey. Students who used plastic models achieved significantly higher overall scores on both the initial and followup exams than students who performed organ or virtual dissections. On the initial exam, students in the plastic model and organ dissection treatments scored higher on anatomy questions than students who performed virtual dissections. Students in the plastic model group scored higher than students who performed organ dissections on physiology questions. On the followup exam, when asked anatomy questions, students in the plastic model group scored higher than dissection students and virtual dissection students. On attitude surveys, organ dissections had higher perceived value and were requested for inclusion in curricula twice as often as any other activity. Students who performed organ dissections were more likely than the other treatment groups to agree with the statement that "science is fun," suggesting that organ dissections may promote positive attitudes toward science. The findings of this study provide evidence for the importance of multiple types of hands-on activities in anatomy laboratory courses.

  17. Harmonic dissection versus electrocautery in breast surgery in regional Victoria.

    Science.gov (United States)

    Kiyingi, Andrew K; Macdonald, Leigh J; Shugg, Sarah A; Bollard, Ruth C

    2015-05-01

    Harmonic instruments are an alternative tool for surgical dissection. The aim of this study is to evaluate differences in clinical outcomes relating to harmonic dissection when compared with electrocautery in patients undergoing major breast surgery in a regional centre over a 3-year period. Retrospective chart analysis was conducted of 52 patients undergoing major breast surgery for carcinoma or ductal carcinoma in situ by a single surgeon in a regional centre from May 2008 to January 2011. Analysis involved the extraction of qualitative data relating to patient demographics, surgery type and specimen histopathology. Quantitative data were extracted relating to duration of surgery, duration of patient-controlled analgesia (PCA) use, length of hospital admission, drainage output and presence of infection, haematoma or seroma. Fifty-two patients underwent major breast surgery; harmonic dissection n = 32 and electrocautery n = 20. The two groups were comparable. There was no significant difference identified relating the outcome measures. The median operative duration was shorter in the harmonic dissection group, however, was not of statistical significance. No significant difference was identified between groups relating to length of inpatient stay, duration of PCA use and total volume wound drainage and total days of drainage. Incidence of seroma and infection in the groups was not significantly different. The harmonic dissection is safe and effective in major breast surgery. The study did not demonstrate any clinical advantage from the use of harmonic dissection in major breast surgery compared with electrocautery, nor was there any difference in the complication rates measured. © 2014 Royal Australasian College of Surgeons.

  18. Ceremonies of gratitude following the dissection course: A report on procedures in departments of anatomy in German speaking countries.

    Science.gov (United States)

    Pabst, R; Schmiedl, A; Schrieber, S; Tschernig, T; Pabst, V C

    2017-03-01

    The departments of anatomy in Germany, Austria and the German-speaking part of Switzerland were sent comprehensive (18 items) questionnaires requesting details on memorial ceremonies held at the close of the dissection course in the medical curriculum, including objectives, organization, number of participants and the role of the medical students. The response rate was very high (95%). In more than 95% of instances a ceremony is held, initiated mainly after 1970. The titles of the ceremony range from commemoration ceremony (42%), service of mourning (19%) memorial service (19%) to ceremony of gratitude (7%). The number of participants exceeds 300 in 15% of these ceremonies. The invitation comes mostly from the student group organizing the ceremony (62%). The ceremony is offered mainly for the students of the course (23%), for student tutors (16%), relatives of the body donors (23%) and scientific staff (15%). The students actively participate with musical contributions (19%), gestures such as candles (17%) and flowers (12%), speeches (17%) and readings (12%). The relevance of the practical dissection course and body donation programs is also discussed. The results are compared to ceremonies in various countries with different religious backgrounds. This dissection course is unique among all courses in the medical curriculum as it obviously also has spiritual aspects. Copyright © 2016 Elsevier GmbH. All rights reserved.

  19. Aneurysm and dissection in a patient with syphilitic aortitis

    Directory of Open Access Journals (Sweden)

    Fernando Pivatto Júnior

    2017-05-01

    Full Text Available In the antibiotic era, aortic aneurysm is a rare complication of syphilis, what makes the diagnostic assumption even more difficult. Nonetheless, this condition should be suspected in patients with aortic aneurysm. Reports of aortic dissection complicating syphilitic aortitis have been distinctly rare in the literature, and their cause-effect relationship has not been definitely established. In this case report, we present a 62-year-old woman with aortic aneurysm and dissection associated with an unexpected diagnosis of syphilitic aortitis.

  20. Unusual Case of Overt Aortic Dissection Mimicking Aortic Intramural Hematoma

    Directory of Open Access Journals (Sweden)

    Kushtrim Disha

    2016-04-01

    Full Text Available We report an interesting case in which overt aortic dissection mimicked two episodes of aortic intramural hematoma (IMH (Stanford A, DeBakey I. This took place over the course of four days and had a major influence on the surgical treatment strategy. The first episode of IMH regressed completely within 15 hours after it was clinically diagnosed and verified using imaging techniques. The recurrence of IMH was detected three days thereafter, resulting in an urgent surgical intervention. Overt aortic dissection with evidence of an intimal tear was diagnosed intraoperatively.

  1. Type A chronic aortic dissection with obesity and preeclampsia.

    Science.gov (United States)

    Santana-Ortega, L M; Urso, S; Rodríguez-Pérez, A; Sarmiento, T; Morales, L; Hernanz, G

    2017-12-01

    Aortic dissection is a potentially lethal disease whose incidence in pregnant women can be up to 100 times that of the remaining adult population. In most cases, it presents as typical chest pain. We report the case of a 37yo obese woman diagnosed with chronic type A aortic dissection documented by a radiological finding 10 months after delivery. Copyright © 2017 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.

  2. Superior Mesenteric Artery Dissection after Extracorporeal Shockwave Lithotripsy

    Directory of Open Access Journals (Sweden)

    Christos Bakoyiannis

    2012-01-01

    Full Text Available The use of shockwave lithotripsy is currently the mainstay of treatment in renal calculosis. Several complications including vessel injuries have been implied to extracorporeal shockwave lithotripsy. We report an isolated dissection of the superior mesenteric artery in a 60-year-old male presenting with abdominal pain which occurred three days after extracorporeal shockwave lithotripsy. The patient was treated conservatively and the abdominal pain subsided 24 hours later. The patient's history, the course of his disease, and the timing may suggest a correlation between the dissection and the ESWL.

  3. Heritability of spinal pain and consequences of spinal pain: a comprehensive genetic epidemiologic analysis using a population-based sample of 15,328 twins ages 20-71 years

    DEFF Research Database (Denmark)

    Hartvigsen, Jan; Nielsen, Jan; Kyvik, Kirsten Ohm

    2009-01-01

    on 15,328 twin individuals (44% monozygotic and 56% dizygotic) from complete twin pairs were included. Genetic susceptibility explained approximately 38% of lumbar pain, 32% of thoracic pain, and 39% of neck pain. For patterns of pain, estimates were 7% for lumbar/thoracic, 24% for lumbar/cervical, 0......% for thoracic/cervical, and 35% for pain in all 3 areas. Moderate to high genetic correlations indicated a common genetic basis for many spinal pain syndromes. In general, heritability was higher for women, and only a minor age effect was seen. CONCLUSION: Heritability estimates for pain in different spinal......OBJECTIVE: To assess the relative contribution of genetic and environmental factors to different definitions of spinal pain and consequences of spinal pain. METHODS: The Danish Twin Registry contains detailed survey information on spinal pain and its consequences in twins ages 20-71 years...

  4. Comprehensive metabolic panel

    Science.gov (United States)

    Metabolic panel - comprehensive; Chem-20; SMA20; Sequential multi-channel analysis with computer-20; SMAC20; Metabolic panel 20 ... Chernecky CC, Berger BJ. Comprehensive metabolic panel (CMP) - blood. In: ... Tests and Diagnostic Procedures . 6th ed. St Louis, MO: ...

  5. Anatomical bases of the surgical dissection of the interatrial septum: a morphological and histological study.

    Science.gov (United States)

    Filaire, Marc; Nohra, Olivier; Sakka, Laurent; Chadeyras, Jean Baptiste; Da Costa, Valence; Naamee, Adel; Bailly, Patrick; Escande, Georges

    2008-06-01

    The interatrial septum (IAS) can be dissected to resect pulmonary tumors invading the left atrium. The aim of this study was to describe the dissected structures, and to expose the benefits, the limits, and the embryologic reasons of such dissection. We dissected the IAS of 11 fresh, non-embalmed human hearts. The dissected structures were described and the length and depth of the dissection were measured. A histological study was performed in four other fresh hearts to identify and differentiate between dissectible and non-dissectible structures. The dissection was performed through a fatty tissue located between two muscular walls. The depth limit of the IAS dissection was identified as the limbus of the fossa ovalis and the muscular roof of the atria. The section of the latter doubles the depth of the dissection at the level of the upper pulmonary veins. Mean length of the dissected IAS was 77 mm (55-90). Mean depths of the IAS were 41 mm (35-50) at the level of the left upper pulmonary vein, 27 mm (12-35) between the upper and lower pulmonary veins, and 14 mm (8-20) at the level of the left inferior pulmonary vein The surgical dissection of the IAS is performed through the septum secundum that appears as an infold of the atrial wall. The length of the resectable left atrial cuff reaches a mean of 40 mm at the level of the upper pulmonary vein.

  6. Dissection of a nuclear localization signal.

    Science.gov (United States)

    Hodel, M R; Corbett, A H; Hodel, A E

    2001-01-12

    The regulated process of protein import into the nucleus of a eukaryotic cell is mediated by specific nuclear localization signals (NLSs) that are recognized by protein import receptors. This study seeks to decipher the energetic details of NLS recognition by the receptor importin alpha through quantitative analysis of variant NLSs. The relative importance of each residue in two monopartite NLS sequences was determined using an alanine scanning approach. These measurements yield an energetic definition of a monopartite NLS sequence where a required lysine residue is followed by two other basic residues in the sequence K(K/R)X(K/R). In addition, the energetic contributions of the second basic cluster in a bipartite NLS ( approximately 3 kcal/mol) as well as the energy of inhibition of the importin alpha importin beta-binding domain ( approximately 3 kcal/mol) were also measured. These data allow the generation of an energetic scale of nuclear localization sequences based on a peptide's affinity for the importin alpha-importin beta complex. On this scale, a functional NLS has a binding constant of approximately 10 nm, whereas a nonfunctional NLS has a 100-fold weaker affinity of 1 microm. Further correlation between the current in vitro data and in vivo function will provide the foundation for a comprehensive quantitative model of protein import.

  7. The Genetics of Aortopathies in Clinical Cardiology

    Directory of Open Access Journals (Sweden)

    Amit Goyal

    2017-05-01

    Full Text Available Aortopathies pose a significant healthcare burden due to excess early mortality, increasing incidence, and underdiagnosis. Understanding the underlying genetic causes, early diagnosis, timely surveillance, prophylactic repair, and family screening are keys to addressing these diseases. Next-generation sequencing continues to expand our understanding of the genetic causes of heritable aortopathies, rapidly clarifying their underlying molecular pathophysiology and suggesting new potential therapeutic targets. This review will summarize the pathogenetic mechanisms and management of heritable genetic aortopathies with attention to specific forms of both syndromic and nonsyndromic disorders, including Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, and familial thoracic aortic aneurysm and dissection.

  8. Stroke from cercocephalic arterial dissecting in Saudi children

    International Nuclear Information System (INIS)

    Salih, Mustafa A.; Al-Jarallah, Ahmed A.; Al-Salman, Mussaad M.; Alorainy, Ibrahim A.; Hassan, Hamdy H.

    2006-01-01

    Cercocephalic arterial dissecting (CCAD) is an important, but rarely recognized, cause of stroke in children. We describe 3 cases of CCAD who were diagnosed during a study on childhood stroke which included 104 patients. A high index of suspicion and targeted investigations are needed for the diagnosis and management of CCAD in childhood. (author)

  9. Measuring Medical Students' Motivation to Learning Anatomy by Cadaveric Dissection

    Science.gov (United States)

    Abdel Meguid, Eiman M.; Khalil, Mohammed K.

    2017-01-01

    Motivation and learning are inter-related. It is well known that motivating learners is clearly a complex endeavor, which can be influenced by the educational program and the learning environment. Limited research has been conducted to examine students' motivation as a method to assess the effectiveness of dissection in medical education. This…

  10. Acute aortic dissection in patient with suspected pheochromocytoma

    Directory of Open Access Journals (Sweden)

    Lešanović Jelena

    2016-01-01

    Full Text Available Introduction: Aortic dissection is one of the most fatal vascular emergencies. Almost 40% of the patients do not reach hospital in time while more than quarter die in the first 24 hours after the dissection begins. Case Report: A 37-year old man was admitted to our hospital with severe anterior chest pain which had lasted for over a week. Suspected aortic dissection was rapidly confirmed using imaging modalities - MDCT chest scan and TTE, followed by an urgent surgical management - Bentall procedure. MDCT chest scan also discovered adrenal incidentaloma defined as malignant, pheochromocytoma like mass. Due to the critical state of the patient, there was not enough time for further endocrinologic testing. Discussion and conclusion: When treating patients with pheochromocytoma and acute aortic disection, it is crucial to obtain a stable hemodynamic state before the surgery, since they can trigger a severe hypertensive crisis due to high levels of cathecholamines induced chronic vasoconctriction. The most vulnerable periods are the induction of anesthesia and perioperative hemodynamic oscillations, so treating patients with short acting alpha- 1 adrenergic blocking agents preoperatively has proven to be helpful - Phentolamine. Both dissection of aorta and pheochromocytoma present challenges for anesthesiologists and early recognition of symptoms is essential in establishing the diagnosis and reducing the mortality rate.

  11. [Selective neck dissection for treating recurrent branchial anomalies].

    Science.gov (United States)

    Chen, Liangsi; Song, Xinhan; Zhang, Siyi; Han, Zhijuan; Luo, Xiaoning; Chen, Shaohua; Zhan, Jiandong

    2011-01-01

    To evaluate the role of selective neck dissection in the treatment of recurrent branchial anomalies. The clinical data of 18 patients with recurrent branchial anomalies were retrospectively analyzed. In accordance with the embryologic and anatomic features of branchial anomalies, different types of selective neck dissection were applied. With dissection and protection of important vessels, nerves and other structures, enbloc resection principles were applied to extirpate branchial lesions, scarrings and inflammatory granuloma during the operation. Of all 18 patients, 16 cases were healed with primary healing, 2 cases with local incision infection were healed after dressing changes. A temporary facial nerve paralysis occurred in 1 case with recurrent first branchial cleft fistula postoperatively, and completely recovered 2 months after operation. A postoperative temporary vocal cord paralysis occurred in 1 case with recurrent fourth branchial cleft fistula, and totally recuperated 1 month after operation. No recurrences were found in all 18 cases with a follow-up period of 12-78 months (average 35 months). Selective neck dissection is a safe and effective surgical procedure for the radical treatment of recurrent branchial anomalies.

  12. Spontaneous coronary artery dissection. Case report and literature review

    DEFF Research Database (Denmark)

    Elming, H; Køber, L

    1999-01-01

    to patient characteristics, patient treatment, and prognosis. Primary spontaneous coronary artery dissection is a rare condition but one that must be considered when young people, especially post partum women, present an acute ischaemic syndrome. Thrombolytic therapy may be a two-edged sword and therefore...

  13. The Influence of Emotion on Students' Performance in Dissection Exercises

    Science.gov (United States)

    Holstermann, Nina; Grube, Dietmar; Bogeholz, Susanne

    2009-01-01

    This paper investigates the issue of how emotions such as disgust influence students' self-efficacy belief in terms of mastering a dissection task and also how these affect their interest in the biology of the heart. Following models of intrinsic motivation and the development of motivation, we expected disgust to negatively impact on students'…

  14. Sentinel Lymph Node Dissection in Locally Recurrent Breast Cancer

    DEFF Research Database (Denmark)

    Uth, Charlotte Caspara; Christensen, Mette Haulund; Oldenbourg, Mette Holmqvist

    2015-01-01

    BACKGROUND: The aim of this study was to investigate the use of sentinel lymph node dissection (SLND) in the treatment of patients with locally recurrent breast cancer. METHODS: A total of 147 patients with locally recurrent breast cancer were included from five different breast surgery departments...

  15. Anaesthesia management of acute aortic dissection type B in Marfan ...

    African Journals Online (AJOL)

    Pregnancy in women with Marfan syndrome (MFS) is linked to approximately a 4.4% risk of acute aortic dissection (AAD). The natural history of pregnancy and the ability to deliver a viable fetus depends on the interaction between the pace of changes in the cardiovascular system and the advancement of pregnancy.

  16. Rembrandt's anatomy lesson of Dr. Deijman of 1656 dissected

    NARCIS (Netherlands)

    Ijpma, Frank F. A.; Middelkoop, Norbert E.; van Gulik, Thomas M.

    2013-01-01

    More than 350 years ago, Rembrandt painted Anatomy Lesson of Dr. Deijman. This group portrait, featuring important members of the Amsterdam Guild of Surgeons, belongs to the series of paintings of the guild. Rembrandt's masterpiece is one of the most famous historical images of a dissection of the

  17. Spontaneous coronary artery dissection: complete angiographic resolution without stenting

    Directory of Open Access Journals (Sweden)

    Alexandre Abizaid

    2007-09-01

    Full Text Available A case of spontaneous coronary artery dissection in a 49-year-oldwoman is presented. She did not present the classical cardiovascular riskfactors. Etiology and treatment are discussed. She underwent primarypercutaneous coronary intervention of the left anterior descendingartery with no stenting and had complete angiographic resolution.

  18. Clinical characteristics of unruptured vertebral artery dissections presenting with headaches

    International Nuclear Information System (INIS)

    Nakamura, Homare; Mizuniwa, Yoshitaka; Kouno, Takao; Nakayama, Hirofumi; Furuya, Yu; Taguchi, Yoshio

    2011-01-01

    We reviewed 13 cases of patients with unruptured dissections of the vertebral artery who were treated at our hospital after presenting with headaches. We identified 13 patients who had headache alone at the time of onset and who were diagnosed as having vertebral artery dissection using three-dimensional CT, MRI, MR angiography (MRA), or angiography from November 2007 to October 2009. Primary radiographic investigations showed the 'pearl and string' sign in two cases, dilatation in eight, and the string sign alone in three cases. Following initial conservative treatment, 11 cases exhibited radiographic improvement, but two cases underwent surgical treatment because of progressive vertebral artery dissection. A definitive diagnosis was made using primary investigations in nine cases and dynamic changes on radiographic investigations in four cases. The headache was located posteriorly in all cases, but some patients had mild headaches. Clinicians need to be aware of the possibility of vertebral artery dissection even if the headache is mild at onset. Radiographic investigations are important for a definitive diagnosis and in deciding whether to intervene surgically. (author)

  19. OK-432 sclerotherapy of cervical chylous lymphocele after neck dissection.

    Science.gov (United States)

    Roh, Jong-Lyel; Park, Chan Il

    2008-06-01

    Postoperative cervical chylous lymphoceles are extremely rare circumscribed collections of lymph which are usually treated by drainage or surgical exploration, but rarely by sclerotherapy. We investigated the efficacy of OK-432 (Picibanil, Chungai Pharmaceutical Co., Tokyo, Japan) sclerotherapy in the treatment of cervical lymphocele after neck dissection. Four patients with postoperative lymphocele who could not be cured by repeated percutaneous needle aspiration and pressure dressing were treated with intralesional injection of 0.1-0.2 mg OK-432 after aspiration of fluid. The aspirated fluid was assessed biochemically and cytologically, and regular palpation and ultrasonography/computed tomography were used to evaluate outcomes and recurrences. Two patients with chyle leak during neck dissection had lymphoceles in the left supraclavicular region 3 weeks later. The other two patients had lymphoceles on the right neck 9 and 12 months, respectively, after neck dissection. All aspirated fluids were chylous in origin without tumor cells. OK-432 sclerotherapy scored all four lesions with no major complications except for fever and local pain for several days. No lymphocele recurrences or metastatic cancers were observed in any patient for >1 year after sclerotherapy. Intralesional injection of OK-432 may be a safe and effective alternative to surgical exploration in the treatment of cervical lymphocele after neck dissection.

  20. Deep dissection: motivating students beyond rote learning in veterinary anatomy.

    Science.gov (United States)

    Cake, Martin A

    2006-01-01

    The profusion of descriptive, factual information in veterinary anatomy inevitably creates pressure on students to employ surface learning approaches and "rote learning." This phenomenon may contribute to negative perceptions of the relevance of anatomy as a discipline. Thus, encouraging deep learning outcomes will not only lead to greater satisfaction for both instructors and learners but may have the added effect of raising the profile of and respect for the discipline. Consideration of the literature reveals the broad scope of interventions required to motivate students to go beyond rote learning. While many of these are common to all disciplines (e.g., promoting active learning, making higher-order goals explicit, reducing content in favor of concepts, aligning assessment with outcomes), other factors are peculiar to anatomy, such as the benefits of incorporating clinical tidbits, "living anatomy," the anatomy museum, and dissection classes into a "learning context" that fosters deep approaches. Surprisingly, the 10 interventions discussed focus more on factors contributing to student perceptions of the course than on drastic changes to the anatomy course itself. This is because many traditional anatomy practices, such as dissection and museum-based classes, are eminently compatible with active, student-centered learning strategies and the adoption of deep learning approaches by veterinary students. Thus the key to encouraging, for example, dissection for deep learning ("deep dissection") lies more in student motivation, personal engagement, curriculum structure, and "learning context" than in the nature of the learning activity itself.

  1. Isolated Posterior Cerebral Artery Dissection: Report of Three Cases

    National Research Council Canada - National Science Library

    Sherman, Paul M

    2005-01-01

    .... We present three cases of dissection of the P2 segment of the PCA. In two patients, an association with minor axial head trauma was documented, suggesting shearing injury of the PCA as it crosses over the free edge of the tentorium...

  2. Partial axillary dissection in early breast cancer | El-Fayoumi ...

    African Journals Online (AJOL)

    ... of later clinical involvement of the axilla and at establishing a sound basis for adjuvant treatment planning axillary dissection is an important operative procedure. ... Methods: Eighteen patients underwent modified radical mastectomy, while the other two patients who were fulfilling the criteria for conservative breast surgery ...

  3. Muscular Variations During Axillary Dissection: A Clinical Study in ...

    African Journals Online (AJOL)

    muscle and the coracoid process, without interruption by any type of tendinous fibres. The axillary arch muscle crossed anteriorly over the axillary vein [Figure 1]. The mastectomy along with axillary dissection was completed uneventfully. There was left sided absence of pectoralis major and minor muscles in a 45 years old ...

  4. Circumareolar Incision‑subdermal Tunneling Dissection for Excision ...

    African Journals Online (AJOL)

    Excision of multiple fibroadenomas (MF) in separate breast quadrants presents difficulties of number and location of incision(s) and extent of tissue dissection and may be associated with more complications and poorer cosmetic outcome. This is a report of excision of MF in multiple quadrants of the breast using a ...

  5. Vertebral Artery Dissection Causing Stroke After Trampoline Use.

    Science.gov (United States)

    Casserly, Courtney S; Lim, Rodrick K; Prasad, Asuri Narayan

    2015-11-01

    The aim of this study was to report a case of a 4-year-old boy who had been playing on the trampoline and presented to the emergency department (ED) with vomiting and ataxia, and had a vertebral artery dissection with subsequent posterior circulation infarcts. This study is a chart review. The patient presented to the emergency department with a 4-day history of vomiting and gait unsteadiness. A computed tomography scan of his head revealed multiple left cerebellar infarcts. Subsequent magnetic resonance imaging/magnetic resonance angiogram of his head and neck demonstrated multiple infarcts involving the left cerebellum, bilateral thalami, and left occipital lobe. A computed tomography angiogram confirmed the presence of a left vertebral artery dissection. Vertebral artery dissection is a relatively common cause of stroke in the pediatric age group. Trampoline use has been associated with significant risk of injury to the head and neck. Patients who are small and/or young are most at risk. In this case, minor trauma secondary to trampoline use could be a possible mechanism for vertebral artery dissection and subsequent strokes. The association in this case warrants careful consideration because trampoline use could pose a significant risk to pediatric users.

  6. A Novel Approach to the Dissection of the Human Knee

    Science.gov (United States)

    Clemente, F. Richard; Fabrizio, Philip A.; Shumaker, Michael

    2009-01-01

    The knee is one of the most frequently injured joints of the human body with injuries affecting the general population and the athletic population of many age groups. Dissection procedures for the knee joint typically do not allow unobstructed visualization of the anterior cruciate or posterior cruciate ligaments without sacrificing the collateral…

  7. Neck dissection with harmonic scalpel and electrocautery? A randomised study.

    Science.gov (United States)

    Verma, Roshan K; Mathiazhagan, Arulalan; Panda, Naresh K

    2017-10-01

    Is the use of harmonic scalpel for neck dissection useful? Literature search did not show a single, prospective, randomised control trial. We intended to study the role of harmonic scalpel in neck dissection and compare it with conventional electrocautery technique for oral cavity carcinoma. 40 patients undergoing selective neck dissection for primary oral cavity malignancy were enrolled in this study. The harmonic scalpel (HS) group consisted of 20 patients, and the electrocautery technique (ET) group comprised of 20 patients. The following variables were examined: intraoperative blood loss, operative time, number of ligatures used, postoperative drain, and postoperative hospital stay. Intraoperative blood loss was found to be significantly reduced in harmonic scalpel group as compared to electrocautery group. However, we found no difference in other parameters like operative time, postop drain, postoperative hospital stay and number of ligatures used between both groups. Harmonic scalpel for neck dissection is associated with significantly lesser intraoperative blood loss as compared to electrocautery. There is no effect on operative time and postoperative hospital stay in both groups. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  8. Risk of marginal mandibular nerve injury in neck dissection

    DEFF Research Database (Denmark)

    Møller, Martin Nue; Sørensen, Christian Hjort

    2012-01-01

    The immediate and permanent frequency of injury to the marginal mandibular branch of the facial nerve (MMN) after neck dissection has only scarcely been addressed in the medical literature. We investigated the risk of injury in 159 consecutive patients after neck dissection for various reasons...... in level I B and level II A, respectively. In 95 patients with oral cancer 13 (14%) of the cases had malfunction of the lower lip domain 2 weeks after neck dissection in level I B indicating paresis to the MMN. Follow-up analyses 1-2 years after the operation showed permanent paralysis in 4 to 7......% of the cases in whom two of them had the nerve sacrificed for oncologic reasons during the operation. In 18 patients with parotic cancer the corresponding permanent frequency of MMN paralysis was 11.1%. In 46 patients with neck dissection in level II A but not in level I B, no paresis of the MMN was registered...

  9. Dissecting phenotypic variation among AIS patients

    International Nuclear Information System (INIS)

    Wang Minghua; Wang Jiucun; Zhang Zhen; Zhao Zhimin; Zhang Rongmei; Hu Xiaohua; Tan Tao; Luo Shijing; Luo Zewei

    2005-01-01

    We have created genital skin fibroblast cell lines directly from three patients in a Chinese family affected by androgen insensitivity syndrome (AIS). All patients in the family share an identical AR Arg 840 Cys mutant but show different disease phenotypes. By using the cell lines, we find that the mutation has not influenced a normal androgen-binding capacity at 37 deg C but has reduced the affinity for androgens and may cause thermolability of the androgen-receptor complex. The impaired nuclear trafficking of the androgen receptor in the cell lines is highly correlated with the severity of donors' disease phenotype. The transactivity of the mutant is substantially weakened and the extent of the reduced transactivity reflects severity of the donors' disease symptom. Our data reveal that although etiology of AIS is monogenic and the mutant may alter the major biological functions of its wild allele, the function of the mutant AR can also be influenced by the different genetic backgrounds and thus explains the divergent disease phenotypes

  10. High‑risk pulmonary embolism in a patient with acute dissecting ...

    African Journals Online (AJOL)

    2016-04-07

    Apr 7, 2016 ... Key words: Acute dissection of an aneurysm, anticoagulant therapy, pulmonary ... On admission, the physical examination revealed cyanosis, .... myocardial infarction and type B acute aortic dissection – A case report. Adv.

  11. A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

    Directory of Open Access Journals (Sweden)

    Emmanuelle Masson

    Full Text Available Idiopathic chronic pancreatitis (ICP has traditionally been defined as chronic pancreatitis in the absence of any obvious precipitating factors (e.g. alcohol abuse and family history of the disease. Studies over the past 15 years have revealed that ICP has a highly complex genetic architecture involving multiple gene loci. Here, we have attempted to provide a conservative assessment of the major genetic causes of ICP in a sample of 253 young French ICP patients. For the first time, conventional types of mutation (comprising coding sequence variants and variants at intron/exon boundaries and gross genomic rearrangements were screened for in all four major pancreatitis genes, PRSS1, SPINK1, CTRC and CFTR. For the purposes of the study, synonymous, intronic and 5'- or 3'-untranslated region variants were excluded from the analysis except where there was persuasive evidence of functional consequences. The remaining sequence variants/genotypes were classified into causative, contributory or neutral categories by consideration of (i their allele frequencies in patient and normal control populations, (ii their presumed or experimentally confirmed functional effects, (iii the relative importance of their associated genes in the pathogenesis of chronic pancreatitis and (iv gene-gene interactions wherever applicable. Adoption of this strategy allowed us to assess the pathogenic relevance of specific variants/genotypes to their respective carriers to an unprecedented degree. The genetic cause of ICP could be assigned in 23.7% of individuals in the study group. A strong genetic susceptibility factor was also present in an additional 24.5% of cases. Taken together, up to 48.2% of the studied ICP patients were found to display evidence of a genetic basis for their pancreatitis. Whereas these particular proportions may not be extrapolable to all ICP patients, the approach employed should serve as a useful framework for acquiring a better understanding of the

  12. Possible extracardiac predictors of aortic dissection in Marfan syndrome

    Science.gov (United States)

    2014-01-01

    Background According to previous studies, aortic diameter alone seems to be insufficient to predict the event of aortic dissection in Marfan syndrome (MFS). Determining the optimal schedule for preventive aortic root replacement (ARR) aortic growth rate is of importance, as well as family history, however, none of them appear to be decisive. Thus, the aim of this study was to search for potential predictors of aortic dissection in MFS. Methods A Marfan Biobank consisting of 79 MFS patients was established. Thirty-nine MFS patients who underwent ARR were assigned into three groups based on the indication for surgery (dissection, annuloaortic ectasia and prophylactic surgery). The prophylactic surgery group was excluded from the study. Transforming growth factor-β (TGF-β) serum levels were measured by ELISA, relative expression of c-Fos, matrix metalloproteinase 3 and 9 (MMP-3 and −9) were assessed by RT-PCR. Clinical parameters, including anthropometric variables - based on the original Ghent criteria were also analyzed. Results Among patients with aortic dissection, TGF-β serum level was elevated (43.78 ± 6.51 vs. 31.64 ± 4.99 ng/l, p < 0.0001), MMP-3 was up-regulated (Ln2α = 1.87, p = 0.062) and striae atrophicae were more common (92% vs. 41% p = 0.027) compared to the annuloaortic ectasia group. Conclusions We found three easily measurable parameters (striae atrophicae, TGF-β serum level, MMP-3) that may help to predict the risk of aortic dissection in MFS. Based on these findings a new classification of MFS, that is benign or malignant is also proposed, which could be taken into consideration in determining the timing of prophylactic ARR. PMID:24720641

  13. Extracranial vertebral artery rupture likely secondary to "cupping therapy" superimposed on spontaneous dissection.

    Science.gov (United States)

    Choi, Jae Young; Huh, Chae Wook; Choi, Chang Hwa; Lee, Jae Il

    2016-12-01

    The extracranial vertebral artery (VA) is vulnerable to dissection and the V3 segment is the most common location for dissection. Dissection accounts for about 2% of all ischemic strokes and can occur after trauma or chiropractic neck maneuvers. We report an extremely rare case of spontaneous extracranial VA dissection presenting with posterior neck hematoma aggravated after cupping therapy, a treatment in traditional Oriental medicine. We treated the patient successfully by endovascular treatment without any complication. © The Author(s) 2016.

  14. The VIRTUE Registry of type B thoracic dissections--study design and early results

    DEFF Research Database (Denmark)

    2011-01-01

    Endovascular procedures for repair of Type B aortic dissection have become increasingly common and are often considered to be first line therapy for acute complicated dissections. The long term durability of these repairs is largely undefined.......Endovascular procedures for repair of Type B aortic dissection have become increasingly common and are often considered to be first line therapy for acute complicated dissections. The long term durability of these repairs is largely undefined....

  15. Spontaneous coronary artery dissection and its association with heritable connective tissue disorders.

    Science.gov (United States)

    Henkin, Stanislav; Negrotto, Sara M; Tweet, Marysia S; Kirmani, Salman; Deyle, David R; Gulati, Rajiv; Olson, Timothy M; Hayes, Sharonne N

    2016-06-01

    Spontaneous coronary artery dissection (SCAD) is an under-recognised but important cause of myocardial infarction and sudden cardiac death. We sought to determine the role of medical and molecular genetic screening for connective tissue disorders in patients with SCAD. We performed a single-centre retrospective descriptive analysis of patients with spontaneous coronary artery disease who had undergone medical genetics evaluation 1984-2014 (n=116). The presence or absence of traits suggestive of heritable connective tissue disease was extracted. Genetic testing for connective tissue disorders and/or aortopathies, if performed, is also reported. Of the 116 patients (mean age 44.2 years, 94.8% women and 41.4% with non-coronary fibromuscular dysplasia (FMD)), 59 patients underwent genetic testing, of whom 3 (5.1%) received a diagnosis of connective tissue disorder: a 50-year-old man with Marfan syndrome; a 43-year-old woman with vascular Ehlers-Danlos syndrome and FMD; and a 45-year-old woman with vascular Ehlers-Danlos syndrome. An additional 12 patients (20.3%) had variants of unknown significance, none of which was thought to be a definite disease-causing mutation based on in silico analyses. Only a minority of patients with SCAD who undergo genetic evaluation have a likely pathogenic mutation identified on gene panel testing. Even fewer exhibit clinical features of connective tissue disorder. These findings underscore the need for further studies to elucidate the molecular mechanisms of SCAD. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  16. Transcriptomic dissection of tongue squamous cell carcinoma

    Directory of Open Access Journals (Sweden)

    Schwartz Joel L

    2008-02-01

    Full Text Available Abstract Background The head and neck/oral squamous cell carcinoma (HNOSCC is a diverse group of cancers, which develop from many different anatomic sites and are associated with different risk factors and genetic characteristics. The oral tongue squamous cell carcinoma (OTSCC is one of the most common types of HNOSCC. It is significantly more aggressive than other forms of HNOSCC, in terms of local invasion and spread. In this study, we aim to identify specific transcriptomic signatures that associated with OTSCC. Results Genome-wide transcriptomic profiles were obtained for 53 primary OTSCCs and 22 matching normal tissues. Genes that exhibit statistically significant differences in expression between OTSCCs and normal were identified. These include up-regulated genes (MMP1, MMP10, MMP3, MMP12, PTHLH, INHBA, LAMC2, IL8, KRT17, COL1A2, IFI6, ISG15, PLAU, GREM1, MMP9, IFI44, CXCL1, and down-regulated genes (KRT4, MAL, CRNN, SCEL, CRISP3, SPINK5, CLCA4, ADH1B, P11, TGM3, RHCG, PPP1R3C, CEACAM7, HPGD, CFD, ABCA8, CLU, CYP3A5. The expressional difference of IL8 and MMP9 were further validated by real-time quantitative RT-PCR and immunohistochemistry. The Gene Ontology analysis suggested a number of altered biological processes in OTSCCs, including enhancements in phosphate transport, collagen catabolism, I-kappaB kinase/NF-kappaB signaling cascade, extracellular matrix organization and biogenesis, chemotaxis, as well as suppressions of superoxide release, hydrogen peroxide metabolism, cellular response to hydrogen peroxide, keratinization, and keratinocyte differentiation in OTSCCs. Conclusion In summary, our study provided a transcriptomic signature for OTSCC that may lead to a diagnosis or screen tool and provide the foundation for further functional validation of these specific candidate genes for OTSCC.

  17. Genetic susceptibility of periodontitis

    NARCIS (Netherlands)

    Laine, M.L.; Crielaard, W.; Loos, B.G.

    2012-01-01

    In this systematic review, we explore and summarize the peer-reviewed literature on putative genetic risk factors for susceptibility to aggressive and chronic periodontitis. A comprehensive literature search on the PubMed database was performed using the keywords ‘periodontitis’ or ‘periodontal

  18. Ultrastructural pathology of aortic dissections in patients with Marfan syndrome: Comparison with dissections in patients without Marfan syndrome

    NARCIS (Netherlands)

    Dingemans, Koert P.; Teeling, Peter; van der Wal, Allard C.; Becker, Anton E.

    2006-01-01

    Despite the discovery in 1990 that mutations in the fibrillin-1 gene cause the Marfan syndrome, the pathogenesis of the life-threatening dissections associated with this disease is far from elucidated. Both the massive number of known fibrillin-1 mutations that result in a heterogeneous patient

  19. Six years of evidence-based adult dissection tonsillectomy with ultrasonic scalpel, bipolar electrocautery, bipolar radiofrequency or 'cold steel' dissection.

    Science.gov (United States)

    Ragab, S M

    2012-10-01

    To conduct an adequately powered, prospective, randomised, controlled trial comparing adult dissection tonsillectomy using either ultrasonic scalpel, bipolar electrocautery, bipolar radiofrequency or 'cold steel' dissection. Three hundred patients were randomised into four tonsillectomy technique groups. The operative time, intra-operative bleeding, post-operative pain, tonsillar fossa healing, return to full diet, return to work and post-operative complications were recorded. The bipolar radiofrequency group had a shorter mean operative time. The mean intra-operative blood loss during bipolar radiofrequency tonsillectomy was significantly less compared with cold dissection and ultrasonic scalpel tonsillectomy. Pain scores were significantly higher after bipolar electrocautery tonsillectomy. Patients undergoing bipolar electrocautery tonsillectomy required significantly more days to return to full diet and work. The bipolar electrocautery group showed significantly reduced tonsillar fossa healing during the first and second post-operative weeks. In this adult series, bipolar radiofrequency tonsillectomy was superior to ultrasonic, bipolar electrocautery and cold dissection tonsillectomies. This method combines the advantages of 'hot' and 'cold' tonsillectomy.

  20. perception to cadaver dissection and views on anatomy as a subject

    African Journals Online (AJOL)

    However, literature on medical students' perceptions on cadaver dissection and their opinions on anatomy as a subject is scanty ... Key words: Dissection, Perceptions, Cadaver, Anatomy. INTRODUCTION. Dissection has been the .... attention they give to the learning of anatomy, and this may possibly explain the relatively.

  1. Perceived Disgust and Personal Experiences are Associated with Acceptance of Dissections in Schools

    Science.gov (United States)

    Fancovicova, Jana; Prokop, Pavol; Leskova, Andrea

    2013-01-01

    Animal dissections are essential parts of anatomy/zoology courses, but their effectiveness is influenced by student attitudes and emotions. Here we examined attitudes toward dissections in 397 prospective biology teachers enrolling two Slovak universities. Perceived disgust of dissections negatively correlated with other attitudes toward…

  2. Digital dissection - using contrast-enhanced computed tomography scanning to elucidate hard- and soft-tissue anatomy in the Common Buzzard Buteo buteo.

    Science.gov (United States)

    Lautenschlager, Stephan; Bright, Jen A; Rayfield, Emily J

    2014-04-01

    Gross dissection has a long history as a tool for the study of human or animal soft- and hard-tissue anatomy. However, apart from being a time-consuming and invasive method, dissection is often unsuitable for very small specimens and often cannot capture spatial relationships of the individual soft-tissue structures. The handful of comprehensive studies on avian anatomy using traditional dissection techniques focus nearly exclusively on domestic birds, whereas raptorial birds, and in particular their cranial soft tissues, are essentially absent from the literature. Here, we digitally dissect, identify, and document the soft-tissue anatomy of the Common Buzzard (Buteo buteo) in detail, using the new approach of contrast-enhanced computed tomography using Lugol's iodine. The architecture of different muscle systems (adductor, depressor, ocular, hyoid, neck musculature), neurovascular, and other soft-tissue structures is three-dimensionally visualised and described in unprecedented detail. The three-dimensional model is further presented as an interactive PDF to facilitate the dissemination and accessibility of anatomical data. Due to the digital nature of the data derived from the computed tomography scanning and segmentation processes, these methods hold the potential for further computational analyses beyond descriptive and illustrative proposes. © 2013 The Authors. Journal of Anatomy published by John Wiley & Sons Ltd on behalf of Anatomical Society.

  3. Comprehensive Analysis of Hormone and Genetic Variation in 36 Genes Related to Steroid Hormone Metabolism in Pre- and Postmenopausal Women from the Breast and Prostate Cancer Cohort Consortium (BPC3)

    DEFF Research Database (Denmark)

    Beckmann, L.; Husing, A.; Setiawan, V. W.

    2011-01-01

    Context: Sex steroids play a central role in breast cancer development.Objective: This study aimed to relate polymorphic variants in 36 candidate genes in the sex steroid pathway to serum concentrations of sex steroid hormones and SHBG.Design: Data on 700 genetic polymorphisms were combined...

  4. Dissecting the Molecular Mechanisms of Neurodegenerative Diseases through Network Biology

    Directory of Open Access Journals (Sweden)

    Jose A. Santiago

    2017-05-01

    Full Text Available Neurodegenerative diseases are rarely caused by a mutation in a single gene but rather influenced by a combination of genetic, epigenetic and environmental factors. Emerging high-throughput technologies such as RNA sequencing have been instrumental in deciphering the molecular landscape of neurodegenerative diseases, however, the interpretation of such large amounts of data remains a challenge. Network biology has become a powerful platform to integrate multiple omics data to comprehensively explore the molecular networks in the context of health and disease. In this review article, we highlight recent advances in network biology approaches with an emphasis in brain-networks that have provided insights into the molecular mechanisms leading to the most prevalent neurodegenerative diseases including Alzheimer’s (AD, Parkinson’s (PD and Huntington’s diseases (HD. We discuss how integrative approaches using multi-omics data from different tissues have been valuable for identifying biomarkers and therapeutic targets. In addition, we discuss the challenges the field of network medicine faces toward the translation of network-based findings into clinically actionable tools for personalized medicine applications.

  5. Contemporary management of isolated chronic infrarenal abdominal aortic dissections.

    Science.gov (United States)

    Faries, Christopher M; Tadros, Rami O; Lajos, Paul S; Vouyouka, Ageliki G; Faries, Peter L; Marin, Michael L

    2016-11-01

    The purpose of this study was to report the presentation, treatment, and follow-up of isolated infrarenal aortic dissections. A review of 37 patients with isolated infrarenal aortic dissections was performed. Computed tomography scans with intravenous administration of contrast material were examined for all patients; catheter-based angiography, magnetic resonance angiography, and duplex ultrasound were used selectively. In dissections associated with the development of abdominal aortic aneurysm (AAA), the aneurysm growth rate was determined by measuring the change in maximum aneurysm diameter over time and dividing that by the duration of observation. The majority of infrarenal abdominal aortic dissection patients were male (67.6%). Hypertension (77.1%) and hyperlipidemia (77.1%) were the most common comorbidities among these patients. Aortic atherosclerosis was present in the majority of patients (60.0%); 67.6% of dissections were discovered incidentally and were asymptomatic. The mean dissection length was 5.84 ± 4.23 cm. Concomitant AAAs were present in 48.6% of cases with an average maximum diameter of 4.38 ± 1.41 cm. The aneurysm growth rate was 1.2 mm/y. Aneurysms were significantly larger in men than in women (4.87 ± 1.31 vs 3.12 ± 0.67 cm; P = .001). Endovascular intervention was performed on 14 (37.8%) patients, open surgery was performed on 1 (2.7%) patient, and surveillance with conservative medical treatment was used for 22 (59.5%) patients. Ten patients were treated successfully with endovascular repair for progressive aneurysm expansion. At the time of intervention, the mean AAA diameter was 5.04 ± 1.39 cm. The mean growth rate for aneurysms that were intervened on was 2.3 mm/y. The mean diameter of AAAs that were not intervened on was 3.56 ± 1.04 cm. Type II endoleaks were observed in three (30%) patients who underwent endovascular repair. None of these were associated with aneurysm growth and none required reintervention. The

  6. Crystal Genetics, Inc.

    Science.gov (United States)

    Kermani, Bahram G

    2016-07-01

    Crystal Genetics, Inc. is an early-stage genetic test company, focused on achieving the highest possible clinical-grade accuracy and comprehensiveness for detecting germline (e.g., in hereditary cancer) and somatic (e.g., in early cancer detection) mutations. Crystal's mission is to significantly improve the health status of the population, by providing high accuracy, comprehensive, flexible and affordable genetic tests, primarily in cancer. Crystal's philosophy is that when it comes to detecting mutations that are strongly correlated with life-threatening diseases, the detection accuracy of every single mutation counts: a single false-positive error could cause severe anxiety for the patient. And, more importantly, a single false-negative error could potentially cost the patient's life. Crystal's objective is to eliminate both of these error types.

  7. Juvenile Stroke: Cervical Artery Dissection in a Patient after a Polytrauma

    Directory of Open Access Journals (Sweden)

    Nicole Marschner-Preuth

    2013-01-01

    Full Text Available Dissections of the cervical arteries cause about 20% of total juvenile strokes. Approximately 4% of the carotid artery dissections are due to a (polytrauma such as car accidents. Despite improved diagnostic facilities, traumatic dissections are often underdiagnosed or diagnosed too late due to a lack of awareness of potential initial signs and symptoms.We report here a case of a delayed embolic stroke after a car accident caused by a dissection of the carotid artery and subsequent pseudoaneurysm.To reduce the long-term morbidity or mortality of multiple trauma patients, an early detection of cervical carotid and vertebral dissections is strictly necessary.

  8. Treatment of a spontaneous intracranial dissecting aneurysm with stent-assisted coil embolization

    International Nuclear Information System (INIS)

    Irie, Keiko; Negoro, Makoto; Hayakawa, Motoharu; Hayashi, Junichi; Kanno, Tetsuo

    2003-01-01

    Arterial dissection is now recognized as an important cause of stroke. Most reported dissections involve the extracranial portion of the internal carotid artery (ICA) and vertebral arteries. Spontaneous dissecting aneurysms of the intracranial ICA are uncommon. Endovascular treatment for cerebral aneurysms has become widespread; however, the dissecting aneurysm is still difficult to treat if the parent artery has to be preserved. More recently, stenting has been advocated for use with endosaccular coiling, with the coils held in place by the stent. We herein report a spontaneous intracranial ICA dissecting aneurysm in a 51-year-old woman who was treated using a new technique of combined stent and coils. (orig.)

  9. Contribution of optical coherence tomography imaging in management of iatrogenic coronary dissection

    Energy Technology Data Exchange (ETDEWEB)

    Barber-Chamoux, Nicolas, E-mail: nbarber-chamoux@chu-clermontferrand.fr [Department of Cardiology, Gabriel Montpied University Hospital, Clermont-Ferrand (France); Souteyrand, Géraud; Combaret, Nicolas [Department of Cardiology, Gabriel Montpied University Hospital, Clermont-Ferrand (France); ISIT, CaVITI, CNRS (UMR-6284), Auvergne University, Clermont-Ferrand (France); Ouedraogo, Edgar; Lusson, Jean René [Department of Cardiology, Gabriel Montpied University Hospital, Clermont-Ferrand (France); Motreff, Pascal [Department of Cardiology, Gabriel Montpied University Hospital, Clermont-Ferrand (France); ISIT, CaVITI, CNRS (UMR-6284), Auvergne University, Clermont-Ferrand (France)

    2016-03-15

    Iatrogenic coronary dissection is a rare but potentially serious complication of coronary angiography and angioplasty. Treatment with angioplasty guided only by angiography is often difficult. Optical coherence tomography imaging seems to be an interesting technique to lead the management of iatrogenic coronary dissection. Diagnosis can be made by optical coherence tomography; it can also eliminate differential diagnosis. Furthermore, this technique can guide safely the endovascular treatment. - Highlights: • Iatrogenic coronary dissection remains a challenging problem in angiography. • Endocoronary imaging is helpful for the diagnosis of iatrogenic coronary dissection. • OCT is a safe option to manage the endovascular treatment of coronary dissection.

  10. Secondary science classroom dissections: Informing policy by evaluating cognitive outcomes and exploring affective outcomes

    Science.gov (United States)

    Allspaw, Kathleen M.

    Animal protection organizations claim that dissection is pedagogically unsound and that it will cause students to lose respect for non-human animals. Science teacher organizations support curricula that teach respect for animal life and include dissection. Prior research compared dissection to dissection alternatives. Four of the six studies revealed no difference between groups on tests of cognitive outcomes. One study revealed that dissection was superior, and one revealed that the alternative was superior. No differences in attitudes toward science, dissection or school were found. Attitudes toward non-human animals were not measured. This study focused on the dissections of earthworms and frogs in middle and high school classrooms. Pre and post-tests of conceptual understanding revealed failing scores and no significant pre/post differences. Because these tests required critical thinking skills, and the dissection activities did not, it is difficult to determine if the poor performance on these tests indicates the inability of the students to think critically, and/or if it indicates the ineffectiveness of dissection. Further studies of dissections that focus on critical thinking would be necessary to make this distinction. Classroom observations, student written narratives, and student and adult interviews revealed mixed attitudes toward non-human animals. Student behaviors during dissection were similar to those behaviors exhibited during non-dissection activities. Most students and adults readily supported worm dissections while they expressed some trepidation about frog dissections. Students and adults universally expressed affection for their pets and opposed the use of their own pets for dissection/research. There was slight support for the use of dogs and cats for dissection/research, but only those students who expressed hate for cats said that they could dissect cats. None of the students or adults expressed a willingness to dissect dogs. Some students

  11. Quantitative Tools for Dissection of Hydrogen-Producing Metabolic Networks-Final Report

    Energy Technology Data Exchange (ETDEWEB)

    Rabinowitz, Joshua D.; Dismukes, G.Charles.; Rabitz, Herschel A.; Amador-Noguez, Daniel

    2012-10-19

    During this project we have pioneered the development of integrated experimental-computational technologies for the quantitative dissection of metabolism in hydrogen and biofuel producing microorganisms (i.e. C. acetobutylicum and various cyanobacteria species). The application of these new methodologies resulted in many significant advances in the understanding of the metabolic networks and metabolism of these organisms, and has provided new strategies to enhance their hydrogen or biofuel producing capabilities. As an example, using mass spectrometry, isotope tracers, and quantitative flux-modeling we mapped the metabolic network structure in C. acetobutylicum. This resulted in a comprehensive and quantitative understanding of central carbon metabolism that could not have been obtained using genomic data alone. We discovered that biofuel production in this bacterium, which only occurs during stationary phase, requires a global remodeling of central metabolism (involving large changes in metabolite concentrations and fluxes) that has the effect of redirecting resources (carbon and reducing power) from biomass production into solvent production. This new holistic, quantitative understanding of metabolism is now being used as the basis for metabolic engineering strategies to improve solvent production in this bacterium. In another example, making use of newly developed technologies for monitoring hydrogen and NAD(P)H levels in vivo, we dissected the metabolic pathways for photobiological hydrogen production by cyanobacteria Cyanothece sp. This investigation led to the identification of multiple targets for improving hydrogen production. Importantly, the quantitative tools and approaches that we have developed are broadly applicable and we are now using them to investigate other important biofuel producers, such as cellulolytic bacteria.

  12. A genetic linkage map for the saltwater crocodile (Crocodylus porosus

    Directory of Open Access Journals (Sweden)

    Lance Stacey L

    2009-07-01

    Full Text Available Abstract Background Genome elucidation is now in high gear for many organisms, and whilst genetic maps have been developed for a broad array of species, surprisingly, no such maps exist for a crocodilian, or indeed any other non-avian member of the Class Reptilia. Genetic linkage maps are essential tools for the mapping and dissection of complex quantitative trait loci (QTL, and in order to permit systematic genome scans for the identification of genes affecting economically important traits in farmed crocodilians, a comprehensive genetic linage map will be necessary. Results A first-generation genetic linkage map for the saltwater crocodile (Crocodylus porosus was constructed using 203 microsatellite markers amplified across a two-generation pedigree comprising ten full-sib families from a commercial population at Darwin Crocodile Farm, Northern Territory, Australia. Linkage analyses identified fourteen linkage groups comprising a total of 180 loci, with 23 loci remaining unlinked. Markers were ordered within linkage groups employing a heuristic approach using CRIMAP v3.0 software. The estimated female and male recombination map lengths were 1824.1 and 319.0 centimorgans (cM respectively, revealing an uncommonly large disparity in recombination map lengths between sexes (ratio of 5.7:1. Conclusion We have generated the first genetic linkage map for a crocodilian, or indeed any other non-avian reptile. The uncommonly large disparity in recombination map lengths confirms previous preliminary evidence of major differences in sex-specific recombination rates in a species that exhibits temperature-dependent sex determination (TSD. However, at this point the reason for this disparity in saltwater crocodiles remains unclear. This map will be a valuable resource for crocodilian researchers, facilitating the systematic genome scans necessary for identifying genes affecting complex traits of economic importance in the crocodile industry. In addition

  13. Principles for Management of Intraoperative Acute Type A Aortic Dissection.

    Science.gov (United States)

    Gukop, Philemon; Chandrasekaran, Vankatachalam

    2015-12-01

    Intraoperative Type A aortic dissection is a rare pathology with incidence of 0.06-0.32%. It is associated with a high mortality between 30-50%. Some associated risk factors, including hypertension, enlarged aorta, peripheral vascular disease, advanced age, atheroma, and high arterial pressure on cardiopulmonary bypass, have been identified. Modification of these risk factors could reduce the incidence of this event. Prompt diagnosis and management, with the aid of intraoperative trans-esophageal echocardiography and/or epi-aortic ultrasound has been shown to reduce the mortality to 17%. We illustrate the principles of management of this pathology with the case of a 62-year-old female who developed acute Type A aortic dissection while undergoing minimally invasive mitral valve repair.

  14. Thyroidectomy and Lymph Node Dissection in Papillary Thyroid Carcinoma

    Directory of Open Access Journals (Sweden)

    Yasuhiro Ito

    2011-01-01

    Full Text Available Papillary carcinoma is a prominent malignancy originating from follicular cells. This disease generally shows an indolent character, but patients demonstrating certain clinicopathological features have a dire prognosis. At present, Western countries adopted almost routine total thyroidectomy with radioactive iodine (RAI ablation, while limited thyroidectomy with extensive prophylactic lymph node dissection has traditionally been performed for most patients in Japan. Recently, accurate evaluation of carcinoma stage can be performed on preoperative imaging studies, especially on ultrasonography. It is therefore important to treat papillary carcinoma patients depending on clinicopathological features rather than in a stereotyped fashion. In this paper, appropriate extension of thyroidectomy and lymph node dissection is discussed based on Western and recently published Japanese guidelines and the experience in Kuma Hospital.

  15. Quality of life after neck dissection. Multicenter study

    International Nuclear Information System (INIS)

    Nibu, Ken-ichi; Onitsuka, Tetsuo; Kawabata, Kazuyoshi

    2010-01-01

    To assess the impact of modifications to radical neck dissection and radiotherapy on the postoperative quality of life, the study group 'Study on Standardization of Treatment for Lymph Node Metastasis of Head and Neck Cancer' performed a multicenter cross-sectional study using our self-administered neck dissection questionnaire and arm abduction test. While sparing levels IV and V improved most postoperative symptoms, such as stiffness and constriction of the neck were avoided as long as the sternocleidmastoid muscle (SCM) and the spinal accessory nerve were preserved. Resection of the SCM and spinal accessory nerve resulted in a drop shoulder and neck pain, respectively. Irradiation with a total dose of 50 Gy or more worsened stiffness of neck and shoulder. (author)

  16. Thyroidectomy and lymph node dissection in papillary thyroid carcinoma.

    Science.gov (United States)

    Ito, Yasuhiro; Miyauchi, Akira

    2010-11-10

    Papillary carcinoma is a prominent malignancy originating from follicular cells. This disease generally shows an indolent character, but patients demonstrating certain clinicopathological features have a dire prognosis. At present, Western countries adopted almost routine total thyroidectomy with radioactive iodine (RAI) ablation, while limited thyroidectomy with extensive prophylactic lymph node dissection has traditionally been performed for most patients in Japan. Recently, accurate evaluation of carcinoma stage can be performed on preoperative imaging studies, especially on ultrasonography. It is therefore important to treat papillary carcinoma patients depending on clinicopathological features rather than in a stereotyped fashion. In this paper, appropriate extension of thyroidectomy and lymph node dissection is discussed based on Western and recently published Japanese guidelines and the experience in Kuma Hospital.

  17. Bilateral Carotid Artery Dissection after High Impact Road Traffic Accident

    Directory of Open Access Journals (Sweden)

    Michael Kelly

    2008-11-01

    Full Text Available A 58 year old man was involved in a high impact road traffic incident and was admitted for observation. Asymptomatic for the first 24 hours, he collapsed with symptoms and signs consistent with a cerebrovascular accident. Computed tomography angiogram (CTA and Magnetic resonance angiogram (MRA demonstrated bilateral internal carotid artery dissections and a left middle cerebral artery infarct. It was not considered appropriate to attempt stenting or other revascularistation. The patient was treated with heparin prior to starting warfarin. He made a partial recovery and was discharged to a rehabilitation facility. This case is a reminder of carotid dissection as an uncommon but serious complication of high speed motor vehicle accident, which may be silent initially. Literature Review suggests risk stratification before relevant radiological screening at risk patients. Significant advances in CTA have made it the diagnostic tool of choice, but ultrasound is an important screening tool.

  18. Treatment of internal carotid artery dissections with endovascular stent placement: report of two cases

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Deok Hee; Hur, Seung Ho; Kim, Hyeon Gak; Jung, Seung Mun; Ryu, Dae Sik; Park, Man Soo [Kangnung Hospital, Kangnung (Korea, Republic of)

    2000-03-01

    Extracranial carotid artery dissection may manifest as arterial stenosis or occlusion, or as dissecting aneurysm formation. Anticoagulation and/or antiplatelet therapy is the first-line treatment, but because it is effective and less invasive than other procedures, endovascular treatment of carotid artery dissection has recently attracted interest. We encountered two consecutive cases of trauma-related extracranial internal carotid artery dissection, one in the suprabulbar portion and one in the subpetrosal portion. We managed the patient with suprabulbar dissection using a self-expandable metallic stent and managed the patient with subpetrosal dissection using a balloon-expandable metallic stent. In both patients the dissecting aneurysm disappeared, and at follow-up improved luminal patency was observed.

  19. Scoping review of the literature on shoulder impairments and disability after neck dissection.

    Science.gov (United States)

    Goldstein, David P; Ringash, Jolie; Bissada, Eric; Jaquet, Yves; Irish, Jonathan; Chepeha, Douglas; Davis, Aileen M

    2014-02-01

    The purpose of this article was to provide a review of the literature on shoulder disability after neck dissection. A literature review was performed using Ovid Medline and Embase databases. A total of 306 abstracts and 78 full-text articles were reviewed. Forty-two articles were eligible for inclusion. Patients undergoing nerve-sacrifice neck dissections have greater disability and lower quality of life scores than those undergoing neck dissections with the least manipulation (ie, selective neck dissections). Shoulder impairments can still occur in patients undergoing selective neck dissections. Disability typically improves over time in patients undergoing nerve-sparing neck dissections. There was significant variability in the literature in terms of the prevalence and recovery of shoulder morbidity after neck dissection. This variability may not just be related to surgical technique or rehabilitation, but also to study design, definitions, and the variability in disability questionnaires used. Copyright © 2013 Wiley Periodicals, Inc.

  20. Intramuscular dissection of Baker's cysts: report on three cases

    International Nuclear Information System (INIS)

    Fang, Christopher S.J.; McCarthy, Catherine L.; McNally, Eugene G.

    2004-01-01

    Baker's cysts are fluid distensions of the gastrocnemius-semimembranosus bursa and are the most common cystic lesion around the knee. Typically cysts enlarge along intermuscular planes around the knee. We report three cases in which the expanding cyst did not respect these planes and dissected along an intramuscular route as confirmed by MR imaging. Such behaviour by Baker's cysts is hitherto unreported in the literature. Possible mechanisms to account for this phenomenon are discussed. (orig.)

  1. Systems-biology dissection of eukaryotic cell growth

    Directory of Open Access Journals (Sweden)

    Andrews Justen

    2010-05-01

    Full Text Available Abstract A recent article in BMC Biology illustrates the use of a systems-biology approach to integrate data across the transcriptome, proteome and metabolome of budding yeast in order to dissect the relationship between nutrient conditions and cell growth. See research article http://jbiol.com/content/6/2/4 and http://www.biomedcentral.com/1741-7007/8/68

  2. Ventricular Septal Dissection Complicating Inferior Wall Myocardial Infarction

    Directory of Open Access Journals (Sweden)

    Lindsey Kalvin

    2017-01-01

    Full Text Available Postmyocardial infarction ventricular septal defect is an increasingly rare mechanical complication of acute myocardial infarction. We present a case of acute myocardial infarction from right coronary artery occlusion that developed hypotension and systolic murmur 12 hours after successful percutaneous coronary intervention. Although preoperative imaging suggested a large ventricular septal defect and a pseudoaneurysm, intraoperative findings concluded a serpiginous dissection of the ventricular septum. The imaging technicalities are discussed.

  3. Dolichoectasia and dissection of the intracranial vertebrobasilar artery

    International Nuclear Information System (INIS)

    Stoyanov, D.; Boshnjakovich, P.; Zivkovic, M.

    2001-01-01

    The purpose is to determine the clinical neuro-radiological features of dolichoectatic intracranial vertebrobasilar artery dissection. The clinical features native and post-contrast CT scans of five patients (4 men and 1 woman; age ranged from 25 to 68 years) with dolichoectatic intracranial vertebrobasilar artery dissection were analysed retrospectively for a period of 3 years. Diagnosis was confirmed by vertebral angiography. Clinical symptoms due to ischemic cerebellar and/or brain stem lesion were present in 4 patient, 2 of them had Wallenberg syndrome. Occipital and/or posterior neck pains were found in 4 patients. Subarachnoid hemorrhage was shown in 1 patient. The incidence of previously documented hypertension was 60% (3 of 5 patients). The prognosis was relatively good. Dolichoectasia was detected by native, post-contrast CT scans and reconstructions in all patients. Intimal flap was visualized with post contrast CT scans in 1 patients. Extension of the basilar artery tip into the third ventricle was detected in 3 patients. Ischemic low-density lesions were detected in 3 patients and subarachnoid hemorrhage in 1 patient. Vertebral angiography disclosed elongation and dilatation of the vertebral and basilar arteries, double lumen sign - the presence of a true and false lumen and an intimal flap, double density and retention of contrast medium. Ischemic symptoms and head and/or neck pain were the most common clinical findings. The double lumen sign considered as the only pathognomonic angiographic finding of arterial dissection, was found in all patients. Angiography is still considered the 'gold standard' for diagnosis of intracranial vertebrobasilar artery dissection. (author)

  4. Endoscopic submucosal dissection in Spain: outcomes and development possibilities

    Directory of Open Access Journals (Sweden)

    Juan J. Vila

    2013-10-01

    Full Text Available Endoscopic submucosal dissection (ESD allows endoscopic, curative, en-bloc resection of superficial malignant or premalignant lesions. This procedure was conceived over 10 years ago in Japan, but has not experienced great expansion in Western countries for different reasons. This article reviews ESD indications and outcomes, and reflects on the reasons that prevent ESD from becoming common clinical practice in Western hospitals. Finally, recommendations on ESD training in our setting are made.

  5. Acute aortic dissection in pregnancy with the marfan syndrome.

    Science.gov (United States)

    Kim, Si Wook; Kim, Dohun; Hong, Jong-Myeon

    2014-06-01

    Acute aortic dissection (AAD) during pregnancy can be fatal to both the pregnant mother and the baby, particularly in patients with the Marfan syndrome. We report a case of the modified Bentall procedure in surgery for AAD in a 31-year-old pregnant woman at 24 weeks of gestation with the Marfan syndrome. The patient recovered well after the operation, but unfortunately, the fetus could not be saved.

  6. Acute Aortic Dissection in Pregnancy with the Marfan Syndrome

    OpenAIRE

    Kim, Si Wook; Kim, Dohun; Hong, Jong-Myeon

    2014-01-01

    Acute aortic dissection (AAD) during pregnancy can be fatal to both the pregnant mother and the baby, particularly in patients with the Marfan syndrome. We report a case of the modified Bentall procedure in surgery for AAD in a 31-year-old pregnant woman at 24 weeks of gestation with the Marfan syndrome. The patient recovered well after the operation, but unfortunately, the fetus could not be saved.

  7. Unexpected Detection of Parotid Gland Malignancy during Primary Extracapsular Dissection

    OpenAIRE

    Mantsopoulos, Konstantinos; Velegrakis, Stylianos; Iro, Heinrich

    2015-01-01

    Objective To evaluate the oncologic and functional outcome in cases in which a false preoperative working hypothesis “benign parotid tumor” led to a primary extracapsular dissection being performed rather than a traditional, more radical surgical modality. Study Design Case series with chart review. Setting Academic tertiary referral center. Subjects and Methods The records of all patients treated for malignant tumors of the parotid gland between 2006 and 2012 were...

  8. Acute aortic dissection type A discloses Corpus alienum

    Directory of Open Access Journals (Sweden)

    Kolat Philipp

    2009-01-01

    Full Text Available Abstract We report an unusual case of an aortic type A dissection with a corpus alienum which compresses the right ventricle. The patient successfully underwent an aortic root replacement in deep hypothermia with re-implantation of the coronary arteries using a modified Bentall procedure and the resection of the corpus alienum. Intraoperative finding reveals 3 greatly adhered gauze compresses, which were most likely forgotten in the operation 34 years ago.

  9. Intracranial vertebral artery dissection with subarachnoid hemorrhage following child abuse

    International Nuclear Information System (INIS)

    Nguyen, Pamela H.; Burrowes, Delilah M.; Ali, Saad; Shaibani, Ali; Bowman, Robin M.

    2007-01-01

    Child abuse is often suspected based on particular patterns of injury. We report a case of intracranial vertebral artery dissection with subarachnoid hemorrhage (SAH) in a 3-month-old boy following child abuse. The mechanisms of injury and the clinical and imaging findings are discussed. This particular pattern of injury has rarely been reported in association with child abuse. We hope to raise physician awareness of child abuse when faced with these imaging findings. (orig.)

  10. Subclavian artery dissection during catheterization in a patient after irradiation

    International Nuclear Information System (INIS)

    Kanazawa, Susumu; Hiraki, Yoshio; Fujie, Shunji; Sato, Nobuo.

    1997-01-01

    A 47-year-old woman with right breast cancer underwent partial mastectomy and had irradiations to the primary and metastatic sites, including the left supraclavicular region. During catheterization of the left internal mammary artery for arterial infusion therapy, the patient developed an iatrogenic dissection and subsequent occlusion of the left subclavian artery. Arterial infusion of tissue plasminogen activator into the artery resulted in recanalization and improvement of clinical signs and symptoms. (author)

  11. Obturator foramen dissection for excision of symptomatic transobturator mesh.

    Science.gov (United States)

    Reynolds, W Stuart; Kit, Laura Chang; Kaufman, Melissa R; Karram, Mickey; Bales, Gregory T; Dmochowski, Roger R

    2012-05-01

    Groin pain after transobturator synthetic mesh placement can be recalcitrant to conservative therapy and ultimately requires surgical excision. We describe our experiences with and technique of obturator foramen dissection for mesh excision. The records of 8 patients treated from 2005 to 2010, were reviewed. Obturator dissection was performed via a lateral groin incision over the inferior pubic ramus at the level of the obturator foramen, typically in conjunction with orthopedic surgery. Five patients had transobturator mid urethral sling surgery for stress urinary incontinence, 2 had mid urethral sling and trocar based anterior vaginal wall mesh kits with transobturator passage of mesh arms for stress urinary incontinence and pelvic organ prolapse, and 1 had an anterior vaginal wall mesh kit for pelvic organ prolapse. Patients had 0 to 2 prior transvaginal mesh excisions before obturator surgery. All patients presented with intractable pain in the area of the obturator foramen and/or medial groin for which conservative treatment measures had failed. Six patients underwent concurrent vaginal and obturator dissection and 2 underwent obturator dissection alone. In all cases residual mesh (3 to 11 cm) was identified and excised from the obturator foramen. Mesh was closely associated to or traversing the adductor longus muscle and tendon with significant fibrous reaction in all cases. Postoperatively 5 patients were cured of pain and/or infection, and 3 reported no or some improvement at a mean followup of 6 months (range 1 to 12). Our experience suggests that surgical excision of residual mesh can alleviate many of the symptoms in many patients. In all cases mesh remnants were identified and removed, and typically involved neuromuscular structures adjacent to the obturator foramen. Copyright © 2012 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  12. Vertebral artery dissection in weightlifter with performance enhancing drug use

    OpenAIRE

    Low, Andrew; Dovey, Julie; Ash-Miles, Janice

    2011-01-01

    This case report describes a transient ischaemic attack secondary to vertebral artery dissection (VAD) in a young male body builder. This occurred following weight training with weights across the back and shoulders. The patient was also known to take multiple performance enhancing agents including anabolic steroids, slimming agents, stimulants and human growth hormone. Cases of VAD have been described with cervical manipulation in the past and an association between the use of anabolic stero...

  13. Intracranial vertebral artery dissection with subarachnoid hemorrhage following child abuse

    Energy Technology Data Exchange (ETDEWEB)

    Nguyen, Pamela H.; Burrowes, Delilah M.; Ali, Saad; Shaibani, Ali [Feinberg School of Medicine of Northwestern University, Department of Radiology, Chicago, IL (United States); Bowman, Robin M. [Feinberg School of Medicine of Northwestern University, Department of Neurological Surgery, Chicago, IL (United States)

    2007-06-15

    Child abuse is often suspected based on particular patterns of injury. We report a case of intracranial vertebral artery dissection with subarachnoid hemorrhage (SAH) in a 3-month-old boy following child abuse. The mechanisms of injury and the clinical and imaging findings are discussed. This particular pattern of injury has rarely been reported in association with child abuse. We hope to raise physician awareness of child abuse when faced with these imaging findings. (orig.)

  14. Sharp Dissection versus Electrocautery for Radial Artery Harvesting

    Science.gov (United States)

    Marzban, Mehrab; Arya, Reza; Mandegar, Mohammad Hossein; Karimi, Abbas Ali; Abbasi, Kiomars; Movahed, Namvar; Abbasi, Seyed Hesameddin

    2006-01-01

    Radial arteries have been increasingly used during the last decade as conduits for coronary artery revascularization. Although various harvesting techniques have been described, there has been little comparative study of arterial damage and patency. A radial artery graft was used in 44 consecutive patients, who were randomly divided into 2 groups. In the 1st group, the radial artery was harvested by sharp dissection and in the 2nd, by electrocautery. These groups were compared with regard to radial artery free flow, harvest time, number of clips used, complications, and endothelial damage. Radial artery free flow before and after intraluminal administration of papaverine was significantly greater in the electrocautery group (84.3 ± 50.7 mL/min and 109.7 ± 68.5 mL/min) than in the sharp-dissection group (52.9 ± 18.3 mL/min and 69.6 ± 28.2 mL/ min) (P =0.003). Harvesting time by electrocautery was significantly shorter (25.4 ± 4.3 min vs 34.4 ± 5.9 min) (P =0.0001). Electrocautery consumed an average of 9.76 clips, versus 22.45 clips consumed by sharp dissection. The 2 groups were not different regarding postoperative complications, except for 3 cases of temporary paresthesia of the thumb in the electrocautery group; histopathologic examination found no endothelial damage. We conclude that radial artery harvesting by electrocautery is faster and more economical than harvesting by sharp dissection and is associated with better intraoperative flow and good preservation of endothelial integrity. PMID:16572861

  15. Bilateral Carotid Artery Dissection after High Impact Road Traffic Accident

    OpenAIRE

    Michael Kelly; Marcus Bradley; Ankur Srivastava

    2008-01-01

    A 58 year old man was involved in a high impact road traffic incident and was admitted for observation. Asymptomatic for the first 24 hours, he collapsed with symptoms and signs consistent with a cerebrovascular accident. Computed tomography angiogram (CTA) and Magnetic resonance angiogram (MRA) demonstrated bilateral internal carotid artery dissections and a left middle cerebral artery infarct. It was not considered appropriate to attempt stenting or other revascularistation. The patient was...

  16. Case in Language Comprehension

    NARCIS (Netherlands)

    Bader, Markus; Lamers, Monique

    2012-01-01

    Research on human language comprehension has been heavily influenced by properties of the English language. Since case plays only a minor role in English, its role for language comprehension has only recently become a topic for extensive research on psycholinguistics. In the psycholinguistic

  17. Spectrum of Physics Comprehension

    Science.gov (United States)

    Blasiak, W.; Godlewska, M.; Rosiek, R.; Wcislo, D.

    2012-01-01

    The paper presents the results of research on the relationship between self-assessed comprehension of physics lectures and final grades of junior high school students (aged 13-15), high school students (aged 16-18) and physics students at the Pedagogical University of Cracow, Poland (aged 21). Students' declared level of comprehension was measured…

  18. Coronary interventionism for dissection of the artery brachial right

    International Nuclear Information System (INIS)

    Conde Cerdeira, Hector; Obregon Santos, Angel Gaspar; Aroche Aportela, Ronald; Dominguez Perez, Reyber Jesus

    2007-01-01

    A prospective, no controlled study was conducted from march 1 to December 31 of 2004. 23 patients were enrolled who made outpatients coronariography and were implanted coronary stents (25 lesions) by angioplasty with optimal results. Found 73,9% of male, stable angina 52,2%, mean age 55.1 + 8.9 years. Hypertension associates to smoke habits were most frequent risk factors. 80% receive 300 mg of clopidogrel during or immediately after procedure. Left anterior descending artery was most frequently treated (44%) and B2 type lessons (64%). The mid time procedure was 48 minutes. Reference diameter 2,87 + 0.42 mm, stenosis diameter 71,6 + 15.1 mm; minimal lumen diameter 0,97 + 0.64 mm; length lesson 14,72 + 5.6 mm; stent diameter 2,9 + 0.42 mm; stent length 16,8 + 5.44 mm; insufflation's time 36,4 + 7.3 seconds; atmospheres 13,56 + 1.7; acute gain 1,96 + 0.61 mm. Two patients had minor bleeding at dissection site (8.7%) and one a little haematoma (4,3%). The radial pulse from the arm's dissection was present in all patients event 24 hours after. We conclude brachial dissection ambulatory angioplasty stent in selected patients with optimal angiography results is feasible and safe

  19. Craniocervical artery dissection: MR imaging and MR angiographic findings

    International Nuclear Information System (INIS)

    Oelerich, M.; Schuierer, G.; Stoegbauer, F.; Kurlemann, G.; Schul, C.

    1999-01-01

    Dissection of the carotid and vertebral arteries is a not so uncommon cause of stroke and has to be considered as a differential diagnosis especially in younger patients. Therapeutic and prognostic implications are different from those in extracranial atherosclerotic disease. Dissection results from hemorrhage into the vessel wall usually between the layers of the media. Digital subtraction angiography (DSA) depicts the resulting luminal compromise that may reveal some typical, but not specific, findings. The same is true for non-invasive angiographic techniques such as time-of-flight magnetic resonance angiography (MRA) and computed tomography angiography (CTA), which have shown accurate results compared with DSA. The main advantage of these techniques is the direct visualization of the vessel wall confirming the intramural hematoma. This is achieved best with MR imaging due to the high signal of blood degradation products on T1- and T2-weighted images. Therefore, MRI in combination with MRA is presently the method of choice for initial diagnosis and follow-up of craniocervical artery dissection (CCAD). In some questionable cases, CTA is a non-invasive alternative that is independent of flow phenomena. (orig.)

  20. Craniocervical artery dissection: MR imaging and MR angiographic findings

    Energy Technology Data Exchange (ETDEWEB)

    Oelerich, M.; Schuierer, G. [Institute of Clinical Radiology, University of Muenster (Germany); Stoegbauer, F. [Department of Neurology, University of Muenster (Germany); Kurlemann, G. [Department of Pediatric Neurology, University of Muenster (Germany); Schul, C. [Department of Neurosurgery, University of Muenster (Germany)

    1999-09-01

    Dissection of the carotid and vertebral arteries is a not so uncommon cause of stroke and has to be considered as a differential diagnosis especially in younger patients. Therapeutic and prognostic implications are different from those in extracranial atherosclerotic disease. Dissection results from hemorrhage into the vessel wall usually between the layers of the media. Digital subtraction angiography (DSA) depicts the resulting luminal compromise that may reveal some typical, but not specific, findings. The same is true for non-invasive angiographic techniques such as time-of-flight magnetic resonance angiography (MRA) and computed tomography angiography (CTA), which have shown accurate results compared with DSA. The main advantage of these techniques is the direct visualization of the vessel wall confirming the intramural hematoma. This is achieved best with MR imaging due to the high signal of blood degradation products on T1- and T2-weighted images. Therefore, MRI in combination with MRA is presently the method of choice for initial diagnosis and follow-up of craniocervical artery dissection (CCAD). In some questionable cases, CTA is a non-invasive alternative that is independent of flow phenomena. (orig.) With 6 figs., 2 tabs., 33 refs.

  1. Role of CT for dissecting aneurysm of aorta

    Energy Technology Data Exchange (ETDEWEB)

    Chung, Hee Tae; Kim, Hong Gil; Park, Choong Ki; Lee, Young Joong; Yoon, Jong Sup [College of Medicine, Hallym University, Chunchun (Korea, Republic of)

    1987-06-15

    During a three years period, 11 patients with clinically suspected aortic dissection were diagnosed by CT as the primary mode of investigation. Chest roentgenography was performed in all 11 patients and ultrasonography was performed in 2 patients. None of them obtained aortography. The authors analyzed them and obtained the results as follows : 1. 7 cases were female and 4 male, with a mean age of 65 years (range 53-75 years) 2. All of them suffered from hypertension. The most consistent clinical symptom was severe tearing chest pain which was radiating to back. ECG revealed the findings of LVH in all 11 cases. 5 cases were expired within 2 weeks and 6 cases treated medically with symptomatic improvement. 3. Chest roentgenography revealed suggestive signs of dissecting aortic aneurysm such as widening of superior mediastinum, shifting of trachea to the right side, obliteration of aortic knob, double aortic knob, displacement of intimal calcification and pleural effusion. 4. CT findings proffered us useful information which were double channel with intimal flap, displacement of intimal calcification, thrombosis, increased diameter of aorta, pleural and pericardial effusion, and narrowness of true lumen. 5. The authors recommend a CT study as the most important preliminary examination in all suspected cases of dissecting aortic aneurysm even though it has some limitation.

  2. Dissecting aneurysm of the cervical internal carotid artery

    International Nuclear Information System (INIS)

    Itoh, Yoshihiro; Itoyama, Youichi; Fukumura, Akinobu; Matsukado, Yasuhiko; Kodama, Takafumi.

    1987-01-01

    On lifting a heavy case, a 51-year-old male experienced a sudden onset of headache with giddiness and clouded vision. A week later, vertigo and right hand numbness were added to his symptoms. The next day anisocoria (right > left) and dilation of the left retinal veins were noted. Cranial computed tomography (CT) scan appeared normal and there were no other remarkable neurological findings. The patient was treated conservatively for cerebral infarction, however, the headache worsened and diplopia occurred. Neurological examination on admission revealed nothing unusual except for left Horner's syndrome. Physical examination showed a palpable sausage-like painless tumor on the left side of the neck. Angiography showed a narrowing of the internal carotid artery in the cervical region with a small dissecting aneurysm at the C3 level. Cervical CT scan at the upper C3 level showed a low density lunar defect in the high density section of the enlarged left internal carotid artery. The patient was operated on by superficial temporal artery-middle cerebral artery anastomosis to increase the intracranial blood flow. Postoperatively the symptoms were quickly relieved. Angiography 1 month later showed less narrowing of the carotid artery, though the dissecting aneurysm still remained. Postoperative cervical CT scan showed the left internal carotid artery to be of normal size. The patient returned to his work in normal condition 2 months later. It is emphasized that cervical CT scan may be useful in the diagnosis of this unusual type of cervical dissecting aneurysm. (author)

  3. Individualized management for intracranial vertebral artery dissecting aneurysms

    Directory of Open Access Journals (Sweden)

    SHANG Yan-guo

    2012-02-01

    Full Text Available Objective To discuss the individualized management strategy for intracranial vertebral artery dissecting aneurysms. Methods Eighteen patients with intracranial vertebral artery dissecting aneurysms were treated with different surgical methods. Results Eighteen patients underwent different surgical treatment. Five patients underwent complete occlusion of the aneurysm and parent artery by coiling, 5 were treated by stent -assisted coiling (3 densely packed coiling and 2 non-densely packed coiling, 4 underwent stent-only therapy and 3 of them presented hemodynamic improvement after surgery, 3 were treated by direct surgical clipping, and 1 underwent occipital artery-posterior inferior cerebellar artery bypass. Two aneurysms ruptured immaturely, in which one patient died on the third day after operation and one patient occurred moderate disablity. Only 1 patient who underwent complete occlusion of aneurysm and parent artery presented temporarily ischemic symptoms. No adverse effects were seen in other patients. Seventeen patients were followed up for 1 month to 3 years, and all the aneurysms were stable. Conclusion There are many kinds of therapeutic methods for intracranial vertebral artery dissecting aneurysms. The patients should be treated according to several factors such as the clinical manifestations, aneurysm configuration, and relationship with the posterior inferior cerebellar artery. The treatment should be individualized.

  4. Morphological variation in leaf dissection of Rheum palmatum complex (Polygonaceae.

    Directory of Open Access Journals (Sweden)

    Xu-Mei Wang

    Full Text Available AIMS: Rheum palmatum complex comprises all taxa within section Palmata in the genus Rheum, including R. officinale, R. palmatum, R. tanguticum, R. tanguticum var. liupanshanense and R. laciniatum. The identification of the taxa in section Palmata is based primarily on the degree of leaf blade dissection and the shape of the lobes; however, difficulties in species identification may arise from their significant variation. The aim of this study is to analyze the patterns of variation in leaf blade characteristics within and among populations through population-based sampling covering the entire distribution range of R. palmatum complex. METHODS: Samples were taken from 2340 leaves from 780 individuals and 44 populations representing the four species, and the degree of leaf blade dissection and the shape of the lobe were measured to yield a set of quantitative data. Furthermore, those data were statistically analyzed. IMPORTANT FINDINGS: The statistical analysis showed that the degree of leaf blade dissection is continuous from lobed to parted, and the shape of the lobe is also continuous from broadly triangular to lanceolate both within and between populations. We suggested that taxa in section Palmata should be considered as one species. Based on the research on the R. palmatum complex, we considered that the quantitative characteristics were greatly influenced by the environment. Therefore, it is not reliable to delimitate the species according to the continuously quantitative vegetative characteristics.

  5. Association between internal carotid artery dissection and arterial tortuosity

    International Nuclear Information System (INIS)

    Saba, Luca; Piga, Mario; Argiolas, Giovanni Maria; Siotto, Paolo; Sumer, Suna; Wintermark, Max; Raz, Eytan; Sanfilippo, Roberto; Montisci, Roberto

    2015-01-01

    Carotid artery dissection is an important cause of ischemic stroke in all age groups, particularly in young patients. The purpose of this work was to assess whether there is an association between the presence of an internal carotid artery dissection (ICAD) and the arterial tortuosity. This study considered 124 patients (72 males and 52 females; median age 57 years) with CT/MR diagnosis of ICAD of the internal carotid artery were considered in this multi-centric retrospective study. The arterial tortuosity was evaluated and, when present, was categorized as elongation, kinking, or coiling. For each patient, both the right and left sides were considered for a total number of 248 arteries in order to have the same number of cases and controls. Fisher's exact test was applied to test the association between elongation, kinking, coiling, dissection, and the side affected by CAD. Fisher's exact test showed a statistically significant association between the ICAD and kinking (p = 0.0089) and coiling (p = 0.0251) whereas no statistically significant difference was found with arterial vessel elongation (p = 0.444). ICAD was more often seen on the left side compared to the right (p = 0.0001). These results were confirmed using both carotid arteries of the same patient as dependent parameter with p = 0.0012, 0.0129, and 0.3323 for kinking, coiling, and elongation, respectively. The presence of kinking and coiling is associated with ICAD. (orig.)

  6. Inflammatory Cell Infiltrates in Acute and Chronic Thoracic Aortic Dissection.

    Science.gov (United States)

    Wu, Darrell; Choi, Justin C; Sameri, Aryan; Minard, Charles G; Coselli, Joseph S; Shen, Ying H; LeMaire, Scott A

    2013-12-01

    Thoracic aortic dissection (TAD) is a highly lethal cardiovascular disease. Injury to the intima and media allows pulsatile blood to enter the media, leading to dissection formation. Inflammatory cells then infiltrate the site of aortic injury to clear dead cells and damaged tissue. This excessive inflammation may play a role in aneurysm formation after dissection. Using immunohistochemistry, we compared aortic tissues from patients with acute TAD (n = 11), patients with chronic TAD (n = 35), and donor controls (n = 20) for the presence of CD68+ macrophages, neutrophils, mast cells, and CD3+ T lymphocytes. Tissue samples from patients with acute or chronic TAD generally had significantly more inflammatory cells in both the medial and adventitial layers than did the control samples. In tissues from patients with acute TAD, the adventitia had more of the inflammatory cells studied than did the media. The pattern of increase in inflammatory cells was similar in chronic and acute TAD tissues, except for macrophages, which were seen more frequently in the adventitial layer of acute TAD tissue than in the adventitia of chronic TAD tissue. The inflammatory cell content of both acute and chronic TAD tissue was significantly different from that of control tissue. However, the inflammatory cell profile of aneurysmal chronic TAD was similar to that of acute TAD. This may reflect a sustained injury response that contributes to medial degeneration and aneurysm formation.

  7. Endoscopic Submucosal Dissection: Indications and Application in Western Endoscopy Practice.

    Science.gov (United States)

    Bourke, Michael J; Neuhaus, Horst; Bergman, Jacques J

    2018-05-01

    Endoscopic submucosal dissection was developed in Japan, early in this century, to provide a minimally invasive yet curative treatment for the large numbers of patients with early gastric cancer identified by the national screening program. Previously, the majority of these patients were treated surgically at substantial cost and with significant risk of short- and long-term morbidity. En-bloc excision of these early cancers, most with a limited risk of nodal metastasis, allowed complete staging of the tumor, stratification of the subsequent therapeutic approach, and potential cure. This transformative innovation changed the nature of endoscopic treatment for superficial mucosal neoplasia and, ultimately, for the first time allowed endoscopists to assert that the early cancer had been definitively cured. Subsequently, Western endoscopists have increasingly embraced the therapeutic possibilities offered by endoscopic submucosal dissection, but with some justifiable scientific caution. Here we provide an evidence-based critical appraisal of the role of endoscopic submucosal dissection in advanced endoscopic tissue resection. Copyright © 2018 AGA Institute. Published by Elsevier Inc. All rights reserved.

  8. Harmonic Scalpel Versus Electrocautery in Axillary Dissection in Carcinoma Breast.

    Science.gov (United States)

    Nawaz, Allah; Waqar, Sadaf; Khan, Ahsan; Mansoor, Rashid; Butt, Usman Ismat; Ayyaz, Mahmood

    2015-12-01

    To compare the results between harmonics scalpel and electrocautery use in axillary dissection for carcinoma breast. Randomized controlled trial. Department of Surgery, Services Hospital, Lahore, from December 2013 to June 2014. Eighty patients fulfilling the inclusion criteria were selected and equally divided in two groups. Axillary dissection for carcinoma breast was performed by using the harmonic scalpel in one group and by using electrocautery in the other group. Total mean axillary drain output and frequency of axillary numbness were noted in both groups and compared. All the patients were females with mean age of 53.52 ± 9.8. Mean axillary drain output in harmonic scalpel group was 167.75 ± 43.90 as compared to 310.00 ± 60.09 in electrocautery group while only 12.5% of patients were positive for axillary numbness in harmonic scalpel group as compared to 100% of patients who were positive for electrocautery group. Use of harmonic scalpel in axillary dissection resulted in decreased total mean axillary drain output and lowered frequency of axillary numbness when compared to utilizing electrocautery.

  9. Harmonic scalpel versus electrocautery in axillary dissection in carcinoma breast

    International Nuclear Information System (INIS)

    Nawaz, A.; Khan, A.; Mansoor, R.; Butt, U.I.

    2015-01-01

    To compare the results between harmonics scalpel and electrocautery use in axillary dissection for carcinoma breast. Study Design: Randomized controlled trial. Place and Duration of Study: Department of Surgery, Services Hospital, Lahore, from December 2013 to June 2014. Methodology: Eighty patients fulfilling the inclusion criteria were selected and equally divided in two groups. Axillary dissection for carcinoma breast was performed by using the harmonic scalpel in one group and by using electrocautery in the other group. Total mean axillary drain output and frequency of axillary numbness were noted in both groups and compared. Results: All the patients were females with mean age of 53.52 ± 9.8. Mean axillary drain output in harmonic scalpel group was 167.75 ± 43.90 as compared to 310.00 ± 60.09 in electrocautery group while only 12.5% of patients were positive for axillary numbness in harmonic scalpel group as compared to 100% of patients who were positive for electrocautery group. Conclusion: Use of harmonic scalpel in axillary dissection resulted in decreased total mean axillary drain output and lowered frequency of axillary numbness when compared to utilizing electrocautery. (author)

  10. Association between internal carotid artery dissection and arterial tortuosity

    Energy Technology Data Exchange (ETDEWEB)

    Saba, Luca; Piga, Mario [Azienda Ospedaliero Universitaria (A.O.U.), Department of Radiology, Monserrato, Cagliari (Italy); Argiolas, Giovanni Maria; Siotto, Paolo [Azienda Ospedaliero Brotzu (A.O.B.), Department of Radiology, di Cagliari (Italy); Sumer, Suna; Wintermark, Max [Neuroradiology Division, Neuroradiology, UVA Department of Radiology, Charlottesville, VA (United States); Raz, Eytan [New York University School of Medicine, Department of Radiology, New York, NY (United States); Sapienza University of Rome, Department of Neurology and Psychiatry, Rome (Italy); Sanfilippo, Roberto; Montisci, Roberto [Azienda Ospedaliero Universitaria (A.O.U.), Department of Vascular Surgery, di Cagliari (Italy)

    2014-10-18

    Carotid artery dissection is an important cause of ischemic stroke in all age groups, particularly in young patients. The purpose of this work was to assess whether there is an association between the presence of an internal carotid artery dissection (ICAD) and the arterial tortuosity. This study considered 124 patients (72 males and 52 females; median age 57 years) with CT/MR diagnosis of ICAD of the internal carotid artery were considered in this multi-centric retrospective study. The arterial tortuosity was evaluated and, when present, was categorized as elongation, kinking, or coiling. For each patient, both the right and left sides were considered for a total number of 248 arteries in order to have the same number of cases and controls. Fisher's exact test was applied to test the association between elongation, kinking, coiling, dissection, and the side affected by CAD. Fisher's exact test showed a statistically significant association between the ICAD and kinking (p = 0.0089) and coiling (p = 0.0251) whereas no statistically significant difference was found with arterial vessel elongation (p = 0.444). ICAD was more often seen on the left side compared to the right (p = 0.0001). These results were confirmed using both carotid arteries of the same patient as dependent parameter with p = 0.0012, 0.0129, and 0.3323 for kinking, coiling, and elongation, respectively. The presence of kinking and coiling is associated with ICAD. (orig.)

  11. Role of CT for dissecting aneurysm of aorta

    International Nuclear Information System (INIS)

    Chung, Hee Tae; Kim, Hong Gil; Park, Choong Ki; Lee, Young Joong; Yoon, Jong Sup

    1987-01-01

    During a three years period, 11 patients with clinically suspected aortic dissection were diagnosed by CT as the primary mode of investigation. Chest roentgenography was performed in all 11 patients and ultrasonography was performed in 2 patients. None of them obtained aortography. The authors analyzed them and obtained the results as follows : 1. 7 cases were female and 4 male, with a mean age of 65 years (range 53-75 years) 2. All of them suffered from hypertension. The most consistent clinical symptom was severe tearing chest pain which was radiating to back. ECG revealed the findings of LVH in all 11 cases. 5 cases were expired within 2 weeks and 6 cases treated medically with symptomatic improvement. 3. Chest roentgenography revealed suggestive signs of dissecting aortic aneurysm such as widening of superior mediastinum, shifting of trachea to the right side, obliteration of aortic knob, double aortic knob, displacement of intimal calcification and pleural effusion. 4. CT findings proffered us useful information which were double channel with intimal flap, displacement of intimal calcification, thrombosis, increased diameter of aorta, pleural and pericardial effusion, and narrowness of true lumen. 5. The authors recommend a CT study as the most important preliminary examination in all suspected cases of dissecting aortic aneurysm even though it has some limitation

  12. High-resolution genome-wide dissection of the two rules of speciation in Drosophila.

    Directory of Open Access Journals (Sweden)

    John P Masly

    2007-09-01

    Full Text Available Postzygotic reproductive isolation is characterized by two striking empirical patterns. The first is Haldane's rule--the preferential inviability or sterility of species hybrids of the heterogametic (XY sex. The second is the so-called large X effect--substitution of one species's X chromosome for another's has a disproportionately large effect on hybrid fitness compared to similar substitution of an autosome. Although the first rule has been well-established, the second rule remains controversial. Here, we dissect the genetic causes of these two rules using a genome-wide introgression analysis of Drosophila mauritiana chromosome segments in an otherwise D. sechellia genetic background. We find that recessive hybrid incompatibilities outnumber dominant ones and that hybrid male steriles outnumber all other types of incompatibility, consistent with the dominance and faster-male theories of Haldane's rule, respectively. We also find that, although X-linked and autosomal introgressions are of similar size, most X-linked introgressions cause hybrid male sterility (60% whereas few autosomal introgressions do (18%. Our results thus confirm the large X effect and identify its proximate cause: incompatibilities causing hybrid male sterility have a higher density on the X chromosome than on the autosomes. We evaluate several hypotheses for the evolutionary cause of this excess of X-linked hybrid male sterility.

  13. Multiple contemporary arterial dissection in Ehlers-Danlos syndrome type IV

    Directory of Open Access Journals (Sweden)

    Anna Rocci

    2015-03-01

    Full Text Available We report a case of multiple spontaneous arteries dissection in a 52-year-old female; the patient had a relevant family history of vascular complications and typical features so we hypothesized vascular Ehlers-Danlos syndrome (EDS that was confirmed by genetic analysis of COL3A1 gene. We adopted a conservative approach: the patient was treated with heparin in the acute phase followed by aspirin and then celiprolol was started on the basis of a recent trial that demonstrates a reduction in arterial events in EDS patient treated. A careful follow-up was done with Doppler ultrasound and computed tomography scan, as non-invasive diagnostic techniques are preferred in these patients, and no other vascular symptomatic events have occurred. We tested all living relatives: half of them had COL3A1 mutation, they were referred to another center specialized in rare diseases and EDS for long-term follow-up and genetic counseling. This case demonstrates as a careful evaluation of clinical signs, clinical history of the patient and his family has allowed a definitive diagnosis, proper management of the patient during the acute event and in terms of prophylaxis of recurrence.

  14. Chromosome-wise dissection of the genome of the extremely big mouse line DU6i.

    Science.gov (United States)

    Bevova, Marianna R; Aulchenko, Yurii S; Aksu, Soner; Renne, Ulla; Brockmann, Gudrun A

    2006-01-01

    The extreme high-body-weight-selected mouse line DU6i is a polygenic model for growth research, harboring many small-effect QTL. We dissected the genome of this line into 19 autosomes and the Y chromosome by the construction of a new panel of chromosome substitution strains (CSS). The DU6i chromosomes were transferred to a DBA/2 mice genetic background by marker-assisted recurrent backcrossing. Mitochondria and the X chromosome were of DBA/2 origin in the backcross. During the construction of these novel strains, >4000 animals were generated, phenotyped, and genotyped. Using these data, we studied the genetic control of variation in body weight and weight gain at 21, 42, and 63 days. The unique data set facilitated the analysis of chromosomal interaction with sex and parent-of-origin effects. All analyzed chromosomes affected body weight and weight gain either directly or in interaction with sex or parent of origin. The effects were age specific, with some chromosomes showing opposite effects at different stages of development.

  15. High-resolution genome-wide dissection of the two rules of speciation in Drosophila.

    Science.gov (United States)

    Masly, John P; Presgraves, Daven C

    2007-09-01

    Postzygotic reproductive isolation is characterized by two striking empirical patterns. The first is Haldane's rule--the preferential inviability or sterility of species hybrids of the heterogametic (XY) sex. The second is the so-called large X effect--substitution of one species's X chromosome for another's has a disproportionately large effect on hybrid fitness compared to similar substitution of an autosome. Although the first rule has been well-established, the second rule remains controversial. Here, we dissect the genetic causes of these two rules using a genome-wide introgression analysis of Drosophila mauritiana chromosome segments in an otherwise D. sechellia genetic background. We find that recessive hybrid incompatibilities outnumber dominant ones and that hybrid male steriles outnumber all other types of incompatibility, consistent with the dominance and faster-male theories of Haldane's rule, respectively. We also find that, although X-linked and autosomal introgressions are of similar size, most X-linked introgressions cause hybrid male sterility (60%) whereas few autosomal introgressions do (18%). Our results thus confirm the large X effect and identify its proximate cause: incompatibilities causing hybrid male sterility have a higher density on the X chromosome than on the autosomes. We evaluate several hypotheses for the evolutionary cause of this excess of X-linked hybrid male sterility.

  16. Probability theory a comprehensive course

    CERN Document Server

    Klenke, Achim

    2014-01-01

    This second edition of the popular textbook contains a comprehensive course in modern probability theory. Overall, probabilistic concepts play an increasingly important role in mathematics, physics, biology, financial engineering and computer science. They help us in understanding magnetism, amorphous media, genetic diversity and the perils of random developments at financial markets, and they guide us in constructing more efficient algorithms.   To address these concepts, the title covers a wide variety of topics, many of which are not usually found in introductory textbooks, such as:   • limit theorems for sums of random variables • martingales • percolation • Markov chains and electrical networks • construction of stochastic processes • Poisson point process and infinite divisibility • large deviation principles and statistical physics • Brownian motion • stochastic integral and stochastic differential equations. The theory is developed rigorously and in a self-contained way, with the c...

  17. Direct sequencing and comprehensive screening of genetic polymorphisms on CYP2 family genes (CYP2A6, CYP2B6, CYP2C8, and CYP2E1) in five ethnic populations.

    Science.gov (United States)

    Kim, Jeong-Hyun; Cheong, Hyun Sub; Park, Byung Lae; Kim, Lyoung Hyo; Shin, Hee Jung; Na, Han Sung; Chung, Myeon Woo; Shin, Hyoung Doo

    2015-01-01

    Recently, CYP2A6, CYP2B6, CYP2C8, and CYP2E1 have been reported to play a role in the metabolic effect of pharmacological and carcinogenic compounds. Moreover, genetic variations of drug metabolism genes have been implicated in the interindividual variation in drug disposition and pharmacological response. To define the distribution of single nucleotide polymorphisms (SNPs) in these four CYP2 family genes and to discover novel SNPs across ethnic groups, 288 DNAs composed of 48 African-Americans, 48 European-Americans, 48 Japanese, 48 Han Chinese, and 96 Koreans were resequenced. A total of 143 SNPs, 26 in CYP2A6, 45 in CYP2B6, 29 in CYP2C8, and 43 in CYP2E1, were identified, including 13 novel variants. Notably, two SNPs in the regulatory regions, a promoter SNP rs2054675 and a nonsynonymous rs3745274 (p.172Q>H) in CYP2B6, showed significantly different minor allele frequencies (MAFs) among ethnic groups (minimum P = 4.30 × 10(-12)). In addition, rs2031920 in the promoter region of CYP2E1 showed a wide range of MAF between different ethnic groups, and even among other various ethnic groups based on public reports. Among 13 newly discovered SNPs in this study, 5 SNPs were estimated to have potential functions in further in silico analyses. Some differences in genetic variations and haplotypes of CYP2A6, CYP2B6, CYP2C8, and CYP2E1 were observed among populations. Our findings could be useful in further researches, such as genetic associations with drug responses.

  18. Aortic Dissection in Pregnancy: Management Strategy and Outcomes.

    Science.gov (United States)

    Zhu, Jun-Ming; Ma, Wei-Guo; Peterss, Sven; Wang, Long-Fei; Qiao, Zhi-Yu; Ziganshin, Bulat A; Zheng, Jun; Liu, Yong-Min; Elefteriades, John A; Sun, Li-Zhong

    2017-04-01

    Aortic dissection in pregnancy is a rare but lethal catastrophe. Clinical experiences are limited. We report our experience in 25 patients focusing on etiology, management strategies, and outcomes. Between June 1998 and February 2015, we treated 25 pregnant women (mean age, 31.6 ± 4.7 years) in whom aortic dissection developed at a mean of 28 ± 10 gestational weeks (GWs). Type A aortic dissection (TAAD) was present in 20 (80%) and type B (TBAD) in 5 (20%). Marfan syndrome was seen in 17 (68%). Management strategy was based on dissection type and GWs. TAADs were managed surgically in 19 (95.0%) and medically in 1 (5.0%). Maternal and fetal mortalities were, respectively, 14.3% (1 of 7) and 0 (0 of 7) in the "delivery first" group (7 of 20), 16.7% (1 of 6) and 33.3% (2 of 6) in "single-stage delivery and aortic repair" group (6 of 20), 16.7% (1 of 6) and 66.7% (4 of 6) in "aortic repair first" group (6 of 20), and 100% (1 of 1) and 100% (1 of 1) in the "medical management" group (1 of 20). TBADs were managed surgically in 60% (3 of 5) and endovascularly and medically in 20% each (1 of 5). No maternal deaths occurred. Fetal mortality was 100% in the surgical group and 0% in the other groups. During late follow-up, which was complete in 95.2% (20 of 21), 3 maternal and 2 fetal deaths occurred in the TAAD group. Overall maternal survival was 68.6% at 5 years. Marfan syndrome predominates among women with aortic dissection in pregnancy. For TAADs, after 28 GWs, delivery followed by surgical repair can achieve maternal and fetal survival adequately; before 28 GWs, maternal survival should be prioritized given the high risk of fetal death. For TBADs in pregnancy, nonsurgical management is preferred. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  19. Genetic and evolutionary analysis of the Drosophila larval neuromuscular junction

    Science.gov (United States)

    Campbell, Megan

    Although evolution of brains and behaviors is of fundamental biological importance, we lack comprehensive understanding of the general principles governing these processes or the specific mechanisms and molecules through which the evolutionary changes are effected. Because synapses are the basic structural and functional units of nervous systems, one way to address these problems is to dissect the genetic and molecular pathways responsible for morphological evolution of a defined synapse. I have undertaken such an analysis by examining morphology of the larval neuromuscular junction (NMJ) in wild caught D. melanogaster as well as in over 20 other species of Drosophila. Whereas variation in NMJ morphology within a species is limited, I discovered a surprisingly extensive variation among different species. Compared with evolution of other morphological traits, NMJ morphology appears to be evolving very rapidly. Moreover, my data indicate that natural selection rather than genetic drift is primarily responsible for evolution of NMJ morphology. To dissect underlying molecular mechanisms that may govern NMJ growth and evolutionary divergence, I focused on a naturally occurring variant in D. melanogaster that causes NMJ overgrowth. I discovered that the variant mapped to Mob2, a gene encoding a kinase adapter protein originally described in yeast as a member of the Mitotic Exit Network (MEN). I have subsequently examined mutations in the Drosophila orthologs of all the core components of the yeast MEN and found that all of them function as part of a common pathway that acts presynaptically to negatively regulate NMJ growth. As in the regulation of yeast cytokinesis, these components of the MEN appear to act ultimately by regulating actin dynamics during the process of bouton growth and division. These studies have thus led to the discovery of an entirely new role for the MEN---regulation of synaptic growth---that is separate from its function in cell division. This work

  20. Are All Hands-On Activities Equally Effective? Effect of Using Plastic Models, Organ Dissections, and Virtual Dissections on Student Learning and Perceptions

    Science.gov (United States)

    Lombardi, Sara A.; Hicks, Reimi E.; Thompson, Katerina V.; Marbach-Ad, Gili

    2014-01-01

    This study investigated the impact of three commonly used cardiovascular model-assisted activities on student learning and student attitudes and perspectives about science. College students enrolled in a Human Anatomy and Physiology course were randomly assigned to one of three experimental groups (organ dissections, virtual dissections, or…

  1. Retrograde type A dissection: a serious complication due to thoracic aortic endovascular stent-graft repair for Stanford type B aortic dissection

    International Nuclear Information System (INIS)

    Wang Guoquan; Zhai Shuiting; Li Tianxiao; Shi Shuaitao; Zhang Kewei; Li Kun

    2011-01-01

    Objective: to discuss the possible causes and prevention of retrograde type A dissection occurred after thoracic aortic endovascular stent-graft repair (TEVAR) for symptomatic type B dissection. Methods: During the period from January 2005 to January 2011, TEVAR was carried out in 189 patients (157 males and 32 females) with symptomatic type B dissection. The average age of the patients was (51.2±13.5) years, ranged from 26 to 78 years. A follow-up lasting for 3-63 months (mean 32 months) was conducted in 135 patients (71.43%). Fifty-four patients lost in touch with the authors (28.57%). The occurrence of retrograde type A dissection after TEVAR was calculated and the possible causes were analyzed. Results: After TEVAR retrograde type A dissection occurred in two patients (1.48%), and both were males. One patient developed retrograde type A dissection in perioperative period, and the patient refused to have surgery. Conservative treatment was employed for over three years and be was still alive so far. The other patient developed retrograde type A dissection one month after TEVAR, and emergency surgery was performed. The patient was followed up for three months and he was still alive. Conclusion: The retrograde type A dissection occurred after TEVAR may be closely related to the stent-graft device, to the interventional manipulations and to the vascular disorders. Close attention should be paid to the direct damage produced by the stent-graft device to the vascular wall. (authors)

  2. Predictors of aortic growth in uncomplicated type B aortic dissection from the Acute Dissection Stent Grafting or Best Medical Treatment (ADSORB) database

    DEFF Research Database (Denmark)

    Kamman, Arnoud V; Brunkwall, Jan; Verhoeven, Eric L

    2017-01-01

    BACKGROUND: The high-risk patient cohort of uncomplicated type B aortic dissections (uTBADs) needs to be clarified. We compared uTBAD patients treated with best medical treatment (BMT), with and without aortic growth, from the Acute Dissection Stent Grafting or Best Medical Treatment (ADSORB) tri...

  3. The role of postradiotherapy neck dissection in supraglottic carcinoma

    International Nuclear Information System (INIS)

    Chan, Annie W.; Ancukiewicz, Marek; Carballo, Natalia; Montgomery, William; Wang, C.C.

    2001-01-01

    Purpose: To evaluate our policy of performing neck dissection based on regional response after definitive radiotherapy in patients with supraglottic carcinoma and to identify the prognostic factors in this group of patients. Methods and Materials: Between 1970 and 1995, 121 patients with node-positive squamous cell carcinoma of the supraglottic larynx were treated with definitive radiotherapy. Sixty-nine percent of patients presented with 1997 AJCC Stage IV disease. The N-stage distribution was N1, 49; N2, 62; and N3, 10. The median size of the lymph nodes was 3 cm (range, 0.5-8 cm). Forty-five patients received once-a-day treatment with a median total dose of 65 Gy (range, 58.0-70.8 Gy) in 1.8-2.0 Gy per fraction over 48 days, and 76 patients received split-course accelerated hyperfractionation with a median total dose of 67.2 Gy (range, 63.2-73.6 Gy) in 1.6 Gy twice a day over 43 days. Patients whose lymph nodes were not clinically detectable at 4-6 weeks after the completion of radiotherapy (complete response) were followed without any neck dissection. Patients with persistent neck adenopathy (partial response) underwent neck dissection whenever possible. Mean follow-up of the living patients was 6.5 years. Results: Regional response was related to the size of lymph nodes at presentation. Eighty-seven percent of patients with nodal size of 3 cm or less had a complete response, whereas 43% of patients with nodal size greater than 3 cm had a partial response. The rate of regional control at 3 years for all patients in the study was 66%. The 3-year ultimate regional control rate after salvage neck dissection was 75%. A relapse in both the primary and regional sites was the most common pattern of relapse, accounting for 39% of all the failures. Local failure was associated with subsequent regional relapse with a relative risk of 4.3. For patients with completeresponse in whom postradiotherapy neck dissection was withheld, the regional control rates were 75% and 86

  4. Genetic algorithms

    Science.gov (United States)

    Wang, Lui; Bayer, Steven E.

    1991-01-01

    Genetic algorithms are mathematical, highly parallel, adaptive search procedures (i.e., problem solving methods) based loosely on the processes of natural genetics and Darwinian survival of the fittest. Basic genetic algorithms concepts are introduced, genetic algorithm applications are introduced, and results are presented from a project to develop a software tool that will enable the widespread use of genetic algorithm technology.

  5. Quotient-Comprehension Chains

    Directory of Open Access Journals (Sweden)

    Kenta Cho

    2015-11-01

    Full Text Available Quotients and comprehension are fundamental mathematical constructions that can be described via adjunctions in categorical logic. This paper reveals that quotients and comprehension are related to measurement, not only in quantum logic, but also in probabilistic and classical logic. This relation is presented by a long series of examples, some of them easy, and some also highly non-trivial (esp. for von Neumann algebras. We have not yet identified a unifying theory. Nevertheless, the paper contributes towards such a theory by introducing the new quotient-and-comprehension perspective on measurement instruments, and by describing the examples on which such a theory should be built.

  6. Comprehensive cardiac rehabilitation

    DEFF Research Database (Denmark)

    Kruse, Marie; Hochstrasser, Stefan; Zwisler, Ann-Dorthe O

    2006-01-01

    OBJECTIVES: The costs of comprehensive cardiac rehabilitation are established and compared to the corresponding costs of usual care. The effect on health-related quality of life is analyzed. METHODS: An unprecedented and very detailed cost assessment was carried out, as no guidelines existed...... and may be as high as euro 1.877. CONCLUSIONS: Comprehensive cardiac rehabilitation is more costly than usual care, and the higher costs are not outweighed by a quality of life gain. Comprehensive cardiac rehabilitation is, therefore, not cost-effective....

  7. Is there a superior simulator for human anatomy education? How virtual dissection can overcome the anatomic and pedagogic limitations of cadaveric dissection.

    Science.gov (United States)

    Darras, Kathryn E; de Bruin, Anique B H; Nicolaou, Savvas; Dahlström, Nils; Persson, Anders; van Merriënboer, Jeroen; Forster, Bruce B

    2018-03-23

    Educators must select the best tools to teach anatomy to future physicians and traditionally, cadavers have always been considered the "gold standard" simulator for living anatomy. However, new advances in technology and radiology have created new teaching tools, such as virtual dissection, which provide students with new learning opportunities. Virtual dissection is a novel way of studying human anatomy through patient computed tomography (CT) scans. Through touchscreen technology, students can work together in groups to "virtually dissect" the CT scans to better understand complex anatomic relationships. This article presents the anatomic and pedagogic limitations of cadaveric dissection and explains what virtual dissection is and how this new technology may be used to overcome these limitations.

  8. How to decrease the emotional impact of cadaver dissection in medical students

    Directory of Open Access Journals (Sweden)

    F Javadnia

    2009-03-01

    Full Text Available Background: Teaching anatomy is based on cadaver dissection. Working  with cadavers, whether through active dissection or by examination of prosected specimens, constitutes a potential stressor in medical  education.Purpose.To reduce the anxiety of the medical students by mentally preparing them before going to the dissection room.Methods: The questionnaires were distributed among 68 medical students. The pre-dissection questionnaire comprised questions related to demographic data and the first encounter with a cadaver. The students were randomly divided into experimental and control groups. The experimental group was prepared psychologically prior to dissection, but the control group entered the dissection room without any preparation. After the first dissection class, all students were surveyed by the second questionnaire  which surveyed physical and cognitive symptoms of anxiety, resulting from exposure to the dissection room at the first visit and six weeks later.Results: There was a significant difference (p<.05 in the rate of anxiety between experimental and control group in the initial visit. The difference in the rate of anxiety between the first exposure and six weeks later was significant in control group (p<.008, while it was not significant in the experimental group.Conclusion: The initial preparation could relatively reduce the rate of stress, so that the experimental group experienced less errs tonal effects during dissection compared to control group.Keyword: Emotional impact, cadaver dissection, medical students

  9. Dissection of the V4 segment of the vertebral artery: clinicoradiologic manifestations and endovascular treatment

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Woong; Seo, Jeong Jin [Chonnam National University Medical School, Department of Radiology, Chonnam National University Hospital, 501-757Dong-gu, Gwangju (Korea); Kim, Tae Sun [Chonnam National University Medical School, Department of Neurosurgery, Chonnam National University Hospital, Dong-gu, Gwangju (Korea); Do, Huy M.; Jayaraman, Mahesh V.; Marks, Michael P. [Stanford University Medical Center, Department of Radiology, Stanford, California (United States)

    2007-04-15

    Intracranial vertebral artery (VA) dissection has three clinical presentations: ischemia, hemorrhage, and mass effect. Imaging findings of intracranial VA dissections vary according to clinical presentation. Irregular stenosis or occlusion of the VA is the most common finding in patients with posterior fossa infarction, whereas a dissecting aneurysm is the main feature in those with acute subarachnoid hemorrhage. A chronic, giant, dissecting aneurysm can cause mass effect on the brain stem or cranial nerves, as well as distal embolism. Magnetic resonance imaging is useful for detection of intramural hematomas and intimal flaps, both of which are diagnostic of VA dissection. Multidetector computed tomography angiography is increasingly used for diagnosis of VA dissection. Catheter angiography is still beneficial for evaluation of precise endoluminal morphology of the dissection before surgical or endovascular intervention. Endovascular treatment is now considered a major therapeutic option for patients with a ruptured dissecting aneurysm or a chronic dissecting aneurysm. Anticoagulation therapy is currently considered the initial treatment of choice in patients with posterior circulation ischemic symptoms. Endovascular treatment, such as stent-assisted angioplasty or coil occlusion at the dissection site, can be performed in selected patients with posterior fossa ischemic symptoms. (orig.)

  10. Dissection of the V4 segment of the vertebral artery: clinicoradiologic manifestations and endovascular treatment

    International Nuclear Information System (INIS)

    Yoon, Woong; Seo, Jeong Jin; Kim, Tae Sun; Do, Huy M.; Jayaraman, Mahesh V.; Marks, Michael P.

    2007-01-01

    Intracranial vertebral artery (VA) dissection has three clinical presentations: ischemia, hemorrhage, and mass effect. Imaging findings of intracranial VA dissections vary according to clinical presentation. Irregular stenosis or occlusion of the VA is the most common finding in patients with posterior fossa infarction, whereas a dissecting aneurysm is the main feature in those with acute subarachnoid hemorrhage. A chronic, giant, dissecting aneurysm can cause mass effect on the brain stem or cranial nerves, as well as distal embolism. Magnetic resonance imaging is useful for detection of intramural hematomas and intimal flaps, both of which are diagnostic of VA dissection. Multidetector computed tomography angiography is increasingly used for diagnosis of VA dissection. Catheter angiography is still beneficial for evaluation of precise endoluminal morphology of the dissection before surgical or endovascular intervention. Endovascular treatment is now considered a major therapeutic option for patients with a ruptured dissecting aneurysm or a chronic dissecting aneurysm. Anticoagulation therapy is currently considered the initial treatment of choice in patients with posterior circulation ischemic symptoms. Endovascular treatment, such as stent-assisted angioplasty or coil occlusion at the dissection site, can be performed in selected patients with posterior fossa ischemic symptoms. (orig.)

  11. Experiences with dissection courses in human anatomy: a comparison between Germany and Ethiopia.

    Science.gov (United States)

    Bekele, Assegedech; Reissig, Dieter; Löffler, Sabine; Hinz, Andreas

    2011-03-01

    Dissection courses in human anatomy are laborious, and new teaching tools have become available. Therefore, some universities intend to reduce the dissection course. Furthermore, little is known about dissection courses in African universities. The aim of this study is to compare the students' experiences with and evaluations of the dissection courses in two universities: Leipzig (Germany) and Gondar (Ethiopia). Since the Gondar Medical College was founded in cooperation with the Leipzig University in 1978, the anatomy courses in both universities follow roughly the same rules. A structured questionnaire was used to assess the dissection courses from the students' point of view. The sample of students consisted of 109 German and 124 Ethiopian first year undergraduate medical students. Most students in both countries (94% in Germany and 82% in Ethiopia) judge the dissection course to be highly relevant compared to other courses. Perceived health hazards associated with dissection of the cadaver show significant differences between Germany (14%) and Ethiopia (44%). Most students had normal feelings again at the end of the dissection course. Further similarities and differences between the courses in Germany and Ethiopia are described. Dissection courses are highly appreciated also in Africa. The high degree of affirmation of the dissection courses should be taken into consideration when discussing modifications of gross anatomy curriculum or changes in the teacher to student ratio. Copyright © 2010 Elsevier GmbH. All rights reserved.

  12. Genetics of Skin Cancer (PDQ®)—Health Professional Version

    Science.gov (United States)

    Genetics of Skin Cancer includes information about genes and hereditary syndromes associated with basal cell, squamous cell, and melanoma skin cancer. Get comprehensive information about the genetics of skin cancer and interventions in this summary for clinicians.

  13. Generalizing genetical genomics : getting added value from environmental perturbation

    NARCIS (Netherlands)

    Li, Yang; Breitling, Rainer; Jansen, Ritsert C.

    2008-01-01

    Genetical genomics is a useful approach for studying the effect of genetic perturbations on biological systems at the molecular level. However, molecular networks depend on the environmental conditions and, thus, a comprehensive understanding of biological systems requires studying them across

  14. Comprehensive embryo testing. Experts' opinions regarding future directions: an expert panel study on comprehensive embryo testing.

    Science.gov (United States)

    Hens, Kristien; Dondorp, Wybo J; Geraedts, Joep P M; de Wert, Guido M

    2013-05-01

    What do scientists in the field of preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS) consider to be the future direction of comprehensive embryo testing? Although there are many biological and technical limitations, as well as uncertainties regarding the meaning of genetic variation, comprehensive embryo testing will impact the IVF/PGD practice and a timely ethical reflection is needed. Comprehensive testing using microarrays is currently being introduced in the context of PGD and PGS, and it is to be expected that whole-genome sequencing will also follow. Current ethical and empirical sociological research on embryo testing focuses on PGD as it is practiced now. However, empirical research and systematic reflection regarding the impact of comprehensive techniques for embryo testing is missing. In order to understand the potential of this technology and to be able to adequately foresee its implications, we held an expert panel with seven pioneers in PGD. We conducted an expert panel in October 2011 with seven PGD pioneers from Belgium, The Netherlands, Germany and the UK. Participants expected the use of comprehensive techniques in the context of PGD. However, the introduction of these techniques in embryo testing requires timely ethical reflection as it involves a shift from choosing an embryo without a particular genetic disease (i.e. PGD) or most likely to result in a successful pregnancy (i.e. PGS) to choosing the best embryo based on a much wider set of criteria. Such ethical reflection should take account of current technical and biological limitations and also of current uncertainties with regard to the meaning of genetic variance. However, ethicists should also not be afraid to look into the future. There was a general agreement that embryo testing will be increasingly preceded by comprehensive preconception screening, thus enabling smart combinations of genetic testing. The group was composed of seven participants from

  15. Comprehensive geriatric assessment

    African Journals Online (AJOL)

    2007-09-14

    Sep 14, 2007 ... i.e. difficulty performing simple physical and mental tasks necessary for daily life. ... Definition. Comprehensive geriatric assessment (CGA) is a multidimensional .... The formation of a programme of therapy is decided on.

  16. Spectrum of physics comprehension

    International Nuclear Information System (INIS)

    Blasiak, W; Godlewska, M; Rosiek, R; Wcislo, D

    2012-01-01

    The paper presents the results of research on the relationship between self-assessed comprehension of physics lectures and final grades of junior high school students (aged 13-15), high school students (aged 16-18) and physics students at the Pedagogical University of Cracow, Poland (aged 21). Students' declared level of comprehension was measured during a physics lecture on a prearranged scale of 1-10 with the use of a personal response system designed for the purpose of this experiment. Through the use of this tool, we obtained about 2000 computer records of students' declared comprehension of a 45 min lecture, which we named ‘the spectrum of comprehension’. In this paper, we present and analyse the correlation between students' declared comprehension of the content presented in the lecture and their final learning results. (paper)

  17. Genetic Mapping

    Science.gov (United States)

    ... greatly advanced genetics research. The improved quality of genetic data has reduced the time required to identify a ... cases, a matter of months or even weeks. Genetic mapping data generated by the HGP's laboratories is freely accessible ...

  18. Genetic privacy.

    Science.gov (United States)

    Sankar, Pamela

    2003-01-01

    During the past 10 years, the number of genetic tests performed more than tripled, and public concern about genetic privacy emerged. The majority of states and the U.S. government have passed regulations protecting genetic information. However, research has shown that concerns about genetic privacy are disproportionate to known instances of information misuse. Beliefs in genetic determinacy explain some of the heightened concern about genetic privacy. Discussion of the debate over genetic testing within families illustrates the most recent response to genetic privacy concerns.

  19. Validity and QOL of neck dissection preceding radiation therapy for hypopharyngeal cancer

    International Nuclear Information System (INIS)

    Uemura, Hirokazu; Yoshino, Kunitoshi; Fujii, Takashi; Suzuki, Motoyuki

    2009-01-01

    Thirty-one cases of hypopharyngeal cancer with neck dissection preceding radiation and 16 cases of hypopharyngeal cancer with neck dissection for locoregional recurrences after radiation were reviewed in order to make comparative evaluations of difficulty in surgical operation, postoperative complications, laryngeal preservation rate, and cause specific 5-year survival rate retrospectively. And quality of life (QOL) after neck dissection was additionally evaluated through the questionnaire. Since neck dissection preceding radiation for hypopharyngeal cancer may be superior to neck dissection for radiation failure, with easy surgical approach an non-lymphoid tissue preservation, that modality can be a reasonable choice of treatment for patients with nodal lesions, which are probably difficult to treat with radiation alone. Even though further investigation on QOL questionnaire is necessary, this modality can make a contribution to the neck and shoulder condition after neck dissection. (author)

  20. Temple and Postauricular Dissection in Face and Neck Lift Surgery

    Directory of Open Access Journals (Sweden)

    Joo Heon Lee

    2017-07-01

    Full Text Available Periauricular paresthesia may afflict patients for a significant amount of time after facelift surgery. When performing face and neck lift surgery, temple and posterior auricular flap dissection is undertaken directly over the auriculotemporal, great auricular, and lesser occipital nerve territory, leading to potential damage to the nerve. The auriculotemporal nerve remains under the thin outer superficial fascia just below the subfollicular level in the prehelical area. To prevent damage to the auriculotemporal nerve and to protect the temporal hair follicle, the dissection plane should be kept just above the thin fascia covering the auriculotemporal nerve. Around the McKinney point, the adipose tissue covering the deep fascia is apt to be elevated from the deep fascia due to its denser fascial relationship with the skin, which leaves the great auricular nerve open to exposure. In order to prevent damage to the posterior branches of the great auricular nerve, the skin flap at the posterior auricular sulcus should be elevated above the auricularis posterior muscle. Fixating the superficial muscular aponeurotic system flap deeper and higher to the tympano-parotid fascia is recommended in order to avoid compromising the lobular branch of the great auricular nerve. The lesser occipital nerve (C2, C3 travels superficially at a proximal and variable level that makes it vulnerable to compromise in the mastoid dissection. Leaving the adipose tissue at the level of the deep fascia puts the branches of the great auricular nerve and lesser occipital nerve at less risk, and has been confirmed not to compromise either tissue perfusion or hair follicles.

  1. Acute type a aortic dissection associated with a sporting activity.

    Science.gov (United States)

    Itagaki, Ryo; Kimura, Naoyuki; Itoh, Satoshi; Yamaguchi, Atsushi; Adachi, Hideo

    2017-09-01

    To investigate the clinical characteristics of acute type A aortic dissection (ATAAD) occurring during a sporting activity. The subjects of this study were 615 patients who underwent surgery for ATAAD between 1990 and 2015. The patients were divided into two groups according to whether the ATAAD was associated with a sporting activity (sports group: n = 25, mean age 62.3 years; non-sports group: n = 590, mean age 63.7 years). Specific activity was assessed in the sports group, and the characteristics and outcomes were compared between the groups. The sports group accounted for 5% of the patients with daytime onset ATAAD (25/479). The most common sport was golf (n = 8), followed by swimming (n = 4), cycling (n = 4), and weight lifting (n = 3). The average diameter of the ascending aorta on preoperative computed tomography was 4.8 cm. The dissection characteristics of the sports group included DeBakey type I (n = 23, 92%) and malperfusion (n = 9, 36%), which were similar to those of the non-sports group. The 30-day mortality rates were 16% (4/25) for the sports group and 8% (49/590) for the non-sports group (P = 0.33). The most common sport associated with ATAAD was golf, followed by swimming cycling, and weight lifting. The findings of this study reinforce that sports-related aortic dissection is not a unique clinical condition of young syndromic patients, but can occur in all age groups.

  2. Use of key performance indicators in histological dissection.

    Science.gov (United States)

    Griffiths, Matthew; Gillibrand, Rachel

    2017-12-01

    Reports into standards in the National Health Service and quality in pathology have focused on the way we work in pathology and how to provide assurance that this is of a high standard. There are a number of external quality assurance schemes covering pathology and histopathology specifically; however, there is no scheme covering the process of histological surgical dissection. This is an area undergoing development, emerging from the sole preserve of medically qualified pathologists to a field populated by a number of highly trained biomedical scientists, but remains without any formal quality assurance. This work builds on Barnes, taking the guidance of the Royal College of Pathologists (RCPath)and Institute of Biomedical Science (IBMS)to form a series of key performance indicators relating to dissection. These were developed for use as an indicator of individual practice, highlighting areas of variation, weakness or strength. Once identified, a feedback event provided opportunities to address these errors and omissions, or to enable areas of strength to be shared. The data obtained from the checklists demonstrate a large variation in practice at the outset of this study. The use of the checklists alone served to reduce this variation in practice, the addition of the training event showed further reduction in variation. The combination of these two tools was an effective method for enhancing standardisation of practice. The results of this work show that training events serve to reduce variation in practice by, and between, dissectors, driving up standards in dissection-directly addressing the needs of the modern pathology service. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  3. Postoperative CT findings of aortic aneurysm and dissection

    International Nuclear Information System (INIS)

    Seong, Su Ok; Lee, Ghi Jai; Kim, Mi Young; Moon, Hi Eun; Shim, Jae Chan; Lee, Hong Sup; Kim, Ho Kyun; Han, Chang Yul

    1995-01-01

    To assess the postoperative CT findings of aortic aneurysms or dissections treared by resection-and graft replacement or continuous-suture graft-inclusion technique. We reviewed postoperative follow-up CT findings of 14 patients, 19 cases. There were 8 patients (10 cases) of aortic aneurysm and 6 patients (9 cases) of aortic dissection which involved the thoracic aorta in 9 patients (13 cases) and abdominal aorta in 5 patients (6 cases). The interval of follow-up after operation was from 9 days to 2 year 9 months. On CT scans, we analyzed the appearance of graft materials, differences of CT findings between two surgical techniques, and normal or abnormal postoperative CT findings. Most of grafts appeared as hyperdense ring on precontrast scan, and all of them were not separated from aortic lumen on postcontrast scan. On CT findings of patients who were operated by continuous-suture graft-inclusion technique, perigraft thrombus was concentrically located with sharp demarcation by native aortic wall and its density was homogeneous, but in cases of those operated by resection-and graft replacement, perigraft hematoma was eccentrically located with indistinct margin and its density was heterogeneous and native aortic wall could not be delineated. In patients without complication, perigraft thrombus or hematoma (15 cases), perigraft calcification (11 cases), residual intimal flap (6 cases), graft deformity (4 cases), perigraft air (2 cases) and reconstructed vessels (1 cases) were noted. And in one patient with complication, perigraft flow was noted with more increased perigraft hematoma. Precise knowledge of the differences of CT findings between two surgical techniques and normal postoperative CT findings is crucial to evaluated the postoperative CT findings in aortic aneurysm and dissection

  4. Computed tomographic diagnosis of dissecting aortic aneurysm at emergency

    International Nuclear Information System (INIS)

    Watanabe, Shigeru; Yamada, Zenju; Yoshida, Hideo; Morooka, Nobuhiro; Masuda, Yoshiaki; Inagaki, Yoshiaki; Tsunoda, Koichi.

    1985-01-01

    Eleven patients underwent CT examination between one hour and 20 hours (emergency) and twelve underwent it between one day 14 days (acute stage) from onset. Precontrast CTs and enhanced CTs were performed in all cases and dynamic scans were performed in one case at emergency and four at acute stage. The dissections were classified into three types after the DeBakey's criteria. There were seven DeBakey type I, one type II and three type III patients. CT findings were the medial displacement of the calcified intima, double lumens with the intimal flap, intraluminal thrombi and pleural or pericardial effusion. The calcified dissected intima was observed in 45 % at emergency and in 33 % at acute stage by precontrast CTs. The intraluminal thrombi were observed in 55 % at emergency and in 92 % at acute stage. The thrombus appeared 7 hours after onset and its frequency increased with time within two weeks. Pleural effusion was observed in 18 % at emergency and in 58 % at acute stage. Pleural fluid appeared 15 hours after onset. Its frequency increased with time and all effusion disappeared within two months. Pericardial effusion was seen from emergency through the early period of acute stage in seven patients with type I and type II dissections. The detection of double lumen with the intimal flap was 91 % at emergency and 100 % at acute stage. The discrimination between the true and false lumen was poor by conventional enhanced CT (27 % at emergency and 42 % at acute stage). But the true lumen was perfectly differentiated from the false lumen by dynamic scans at emergency and at acute stage. (J.P.N.)

  5. Time-resolved CT angiography in aortic dissection

    International Nuclear Information System (INIS)

    Meinel, Felix G.; Nikolaou, Konstantin; Weidenhagen, Rolf; Hellbach, Katharina; Helck, Andreas; Bamberg, Fabian; Reiser, Maximilian F.; Sommer, Wieland H.

    2012-01-01

    Objectives: We performed this study to assess feasibility and additional diagnostic value of time-resolved CT angiography of the entire aorta in patients with aortic dissection. Materials and methods: 14 consecutive patients with known or suspected aortic dissection (aged 60 ± 9 years) referred for aortic CT angiography were scanned on a dual-source CT scanner (Somatom Definition Flash; Siemens, Forchheim, Germany) using a shuttle mode for multiphasic image acquisition (range 48 cm, time resolution 6 s, 6 phases, 100 kV, 110 mAs/rot). Effective radiation doses were calculated from recorded dose length products. For all phases, CT densities were measured in the aortic lumen and renal parenchyma. From the multiphasic data, 3 phases corresponding to a triphasic standard CT protocol, served as a reference and were compared against findings from the time-resolved datasets. Results: Mean effective radiation dose was 27.7 ± 3.5 mSv. CT density of the true lumen peaked at 355 ± 53 HU. Compared to the simulated triphasic protocol, time-resolved CT angiography added diagnostic information regarding a number of important findings: the enhancement delay between true and false lumen (n = 14); the degree of membrane oscillation (n = 14); the perfusion delay in arteries originating from the false lumen (n = 9). Other additional information included true lumen collapse (n = 4), quantitative assessment of renal perfusion asymmetry (n = 2), and dynamic occlusion of aortic branches (n = 2). In 3/14 patients (21%), these additional findings of the multiphasic protocol altered patient management. Conclusions: Multiphasic, time-resolved CT angiography covering the entire aorta is feasible at a reasonable effective radiation dose and adds significant diagnostic information with therapeutic consequences in patients with aortic dissection.

  6. Isolated celiac trunk aneurysm dissection: A rare entity

    Directory of Open Access Journals (Sweden)

    Esteban-Zubero, Eduardo

    2017-04-01

    Full Text Available Spontaneous and isolated celiac artery dissection is a rare clinical disease. It is the fourth cause of abdominal aneurysms behind those that occur in the splenic, hepatic, and superior mesenteric arteries. It is important to suspect the diagnosis of this entity whose clinical symptoms are unspecific. We report the case of a 60 year-old male treated in our hospital because of this illness, and present a review of this pathology, specially focused on the diagnosis and the different treatments available.

  7. Blunt dissection in augmentation mammaplasty-an instrumental aid.

    Science.gov (United States)

    Webster, R C; Pedroza, L V; Smith, R C; Smith, K F

    1981-11-01

    The iconoclast is an instrument that facilitates blunt dissection in areas where this basic technique is difficult because of anatomical or postsurgical adherence. Medical and inferior undermining in augmentation mammaplasty in primary and revisional cases is described. The instrument capitalizes on the gripping rather than the spreading strength of the surgeon's hand, allows easy penetration of tissues to be spread apart, and diminished severance of blood vessels. We have used the iconoclast for almost two years in selected cases and have had no problems or complications attributable to it.

  8. The Effect of Lymph Node Dissection on the Survival of Patients With Operable Gastric Carcinoma.

    Science.gov (United States)

    Mocellin, Simone

    2016-10-01

    What is the effect of different extents of lymph node dissection (D1, D2, and D3 lymphadenectomy) in patients affected with operable gastric carcinoma? Compared with D1 lymphadenectomy (the most conservative type of lymph node dissection), D2 lymphadenectomy (but not D3) is associated with better disease-specific survival, although a more extended dissection is burdened by a higher postoperative mortality rate.

  9. Implementation of Animal Dissection to Brush the Skills of Biology Experiments Up Qualitatively and the Influence

    OpenAIRE

    Sato, Takayuki; Torigoe, Kenji

    2007-01-01

    Animal dissection is good teaching method to understand animal livings directly. But, almost all the science teachers don't have enough experiences and skills about it. Therefore, we caused students to do several animal dissections and compare the results on teacher training of graduate school of university.The results of this study are as follow: 1) Mouse and Frogs as typical animals of dissection are good teaching material for observing overview of inner organs.2) The other vertebrate anima...

  10. Quantitative Measurement of Dissection Resistance in Intimal and Medial Layers of Human Coronary Arteries

    OpenAIRE

    Wang, Ying; Johnson, John A.; Spinale, Francis G.; Sutton, Michael A.; Lessner, Susan M.

    2013-01-01

    The left anterior descending (LAD) coronary artery is the most frequently involved vessel in coronary artery dissection, a cause of acute coronary syndrome or sudden cardiac death. The biomechanical mechanisms underlying arterial dissection are not well understood. This study investigated the dissection properties of LAD specimens harvested from explanted hearts at the time of cardiac transplantation, from patients with primary dilated cardiomyopathy (n=12). Using a previously validated appro...

  11. Acute Myocardial Infarction Due to Spontaneous Dissection of the Right Coronary Artery in a Young Male

    International Nuclear Information System (INIS)

    Papadopoulos, Dimitris P.; Moyssakis, Ioannis; Perakis, Alexandros; Athanasiou, Andreas; Anagnostopoulou, Sophia; Benos, Ioannis; Votteas, Vassilios E.

    2004-01-01

    Spontaneous coronary artery dissection is a rare cause of acute myocardial infarction. We report a case of a 33-year-old male who presented with an acute inferior myocardial infarction. Coronary arteriography performed 3 hours after the episode revealed a dissection involving the middle segment of right coronary artery. Because of a spiral form of dissection and the TIMI 3 flow grade, our patient was treated medically and repeat coronary angiography 6 months later was decided

  12. Thoracic Endovascular Aortic Repair (TEVAR) in Proximal (Type A) Aortic Dissection: Ready for a Broader Application?

    OpenAIRE

    Nienaber, Christoph A.; Sakalihasan, Natzi; Clough, Rachel E.; Aboukoura, Mohamed; Mancuso, Enrico; Yeh, James S.M.; Defraigne, Jean-Olivier; Cheshire, Nick; Rosendahl, Ulrich Peter; Quarto, Cesare; Pepper, John

    2016-01-01

    ObjectiveThoracic endovascular aortic repair (TEVAR) has demonstrated encouraging results and is gaining increasing acceptance as a treatment option for aortic aneurysms and dissections. Yet, its role in managing proximal aortic pathologies is unknown - this is important because in proximal (Stanford type A) aortic dissections, 10-30% are not accepted for surgery, and 30-50% are technically amenable for TEVAR. We describe our case series of type A aortic dissections treated using TEVAR.Method...

  13. Partial lower axillary dissection for patients with clinically node-negative breast cancer.

    Science.gov (United States)

    Kodama, H; Mise, K; Kan, N

    2012-01-01

    To evaluate retrospectively the outcomes of partial lower axillary lymph node dissection caudal to the intercostobrachial nerve in patients with clinically node-negative (N(0)) breast cancer. Numbers of dissected and metastatic nodes, overall and disease-free survival rates, postoperative complication rates, and axillary recurrence were compared between patients who underwent breast cancer surgery with partial axillary node dissection (n = 1043) and historical controls who underwent conventional dissection (n = 1084). The 5-year overall and disease-free survival rates were 95.6% and 89.7%, and 94.9% and 88.4%, respectively, in the partial dissection and conventional dissection groups; the differences were not significant. Mean duration of surgery (41.6 min versus 60.9 min), intraoperative blood loss (28.0 ml versus 51.3 ml), volume of lymphatic drainage at 2 weeks postoperatively (488 ml versus 836 ml), and persistent arm lymphoedema (0.0% versus 11.8%) were significantly different between the partial and conventional dissection groups, respectively. Partial axillary lymph node dissection was associated with similar survival rates (but lower postoperative complication rates) compared with conventional axillary dissection and is recommended in patients with N(0) breast cancer.

  14. Nanometer-Scale Dissection of Chromosomes by Atomic Force Microscopy Combined with Heat-Denaturing Treatment

    Science.gov (United States)

    Tsukamoto, Kazumi; Kuwazaki, Seigo; Yamamoto, Kimiko; Shichiri, Motoharu; Yoshino, Tomoyuki; Ohtani, Toshio; Sugiyama, Shigeru

    2006-03-01

    We have developed a method for dissecting chromosome fragments with a size of a few hundred nanometers by atomic force microscopy (AFM). By using this method, we demonstrated reproducible dissections of silkworm chromosomes in the pachytene phase. The dissected fragments were successfully recovered on the cantilever tips, as confirmed by fluorescent microscopy using fluorescent stained chromosomes. To recover dissected chromosome fragments from a larger chromosome, such as the human metaphase chromosome of a somatic cell, heat denaturation was found to be effective. Further improvements in this method may lead to a novel tool for isolating valuable genes and/or investigating local genome structures in the near future.

  15. Self-limiting Spontaneous Isolated Celiac Artery Dissection: A Case Report

    Directory of Open Access Journals (Sweden)

    A.D. Morzycki

    Full Text Available : Introduction: Isolated dissection of the celiac artery is rare, with less then 100 cases reported to date. Although some patients present with epigastric pain and tenderness, many cases are asymptomatic and found incidentally on CT. The appropriate management of isolated celiac artery dissections is unclear. This report illustrates an observational approach to a symptomatic case of isolated celiac artery dissection. Report: A 55-year-old Caucassian male presented to the emergency department with epigastric pain. His Initial CT revealed possible celiac artery dissection with associated intramural hematoma. Due to continued pain, a subsequent CTA was ordered. This scan showed progression of the intramural hematoma to near occlusion of the hepatic artery. Despite this, there were no signs of ischemic hepatitis as indicated by normal levels of liver transaminases. There was also no evidence to suggest propagation of the dissection or pseudo-aneurysm formation. We therefore choose a conservative and observational approach to this isolated celiac artery dissection. His dissection was managed with ASA and metoprolol, and he was discharged after 1 week of observation. 3 week follow-up CTA showed spontaneous resolution of the intramural hematoma and improved patency of the hepatic artery. There was no change at 3 months follow-up. Conclusion: This case highlights that an observational approach to cases of isolated celiac artery dissection may be indicated if there is no evident end organ disease or malperfusion. Keywords: Celiac artery, Dissection, Management

  16. Decreased expression of fibulin-4 in aortic wall of aortic dissection.

    Science.gov (United States)

    Huawei, P; Qian, C; Chuan, T; Lei, L; Laing, W; Wenlong, X; Wenzhi, L

    2014-02-01

    In this research, we will examine the expression of Fibulin-4 in aortic wall to find out its role in aortic dissection development. The samples of aortic wall were obtained from 10 patients operated for acute ascending aortic dissection and five patients for chronic ascending aortic dissection. Another 15 pieces of samples from patients who had coronary artery bypass were as controls. The aortic samples were stained with aldehyde magenta dyeing to evaluate the arrangement of elastic fibers. The Fibulin-4 protein and mRNA expression were both determined by Western blot and realtime quantitative polymerase chain reaction. Compared with the control group, both in acute and chronic ascending aortic dissection, elastic fiber fragments increased and the expression of fibulin-4 protein significantly decreased (P= 0.045 < 0.05). The level of fibulin-4 mRNA decreased in acute ascending aortic dissection (P= 0.034 < 0.05), while it increased in chronic ascending aortic dissection (P=0.004 < 0.05). The increased amounts of elastic fiber fragments were negatively correlated with the expression of fibulin-4 mRNA in acute ascending aortic dissection. In conclusion, in aortic wall of ascending aortic dissection, the expression of fibulin-4 protein decreased and the expression of fibulin-4 mRNA was abnormal. Fibulin-4 may play an important role in the pathogenesis of aortic dissection.

  17. Warfarin-induced Primary Dissection of Lower Peripheral Arteries: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jae A; You, He Chul; Han, Young Min; Kwak, Hyo Sung [Chonbuk National University Hospital and Medical School, Jeonju (Korea, Republic of)

    2010-12-15

    Primary dissection of a peripheral artery without involvement of the aorta is a rare entity. Warfarin is currently used as the standard oral anticoagulant in a variety of clinical settings. We report here on a case of focal dissection of the common iliac artery and the superficial femoral artery following prophylactic treatment with warfarin for a prosthetic heart valve. The patient's laboratory results showed a high international normalized ratio and prolongation of the activated partial thromboplastin time. Angiography showed a dissection of the left common iliac artery and the right superficial femoral artery. His symptoms immediately disappeared after deploying stents to the arterial dissections

  18. Warfarin-induced Primary Dissection of Lower Peripheral Arteries: A Case Report

    International Nuclear Information System (INIS)

    Lee, Jae A; You, He Chul; Han, Young Min; Kwak, Hyo Sung

    2010-01-01

    Primary dissection of a peripheral artery without involvement of the aorta is a rare entity. Warfarin is currently used as the standard oral anticoagulant in a variety of clinical settings. We report here on a case of focal dissection of the common iliac artery and the superficial femoral artery following prophylactic treatment with warfarin for a prosthetic heart valve. The patient's laboratory results showed a high international normalized ratio and prolongation of the activated partial thromboplastin time. Angiography showed a dissection of the left common iliac artery and the right superficial femoral artery. His symptoms immediately disappeared after deploying stents to the arterial dissections

  19. Cerberus, an Access Control Scheme for Enforcing Least Privilege in Patient Cohort Study Platforms : A Comprehensive Access Control Scheme Applied to the GENIDA Project - Study of Genetic Forms of Intellectual Disabilities and Autism Spectrum Disorders.

    Science.gov (United States)

    Parrend, Pierre; Mazzucotelli, Timothée; Colin, Florent; Collet, Pierre; Mandel, Jean-Louis

    2017-11-16

    Cohort Study Platforms (CSP) are emerging as a key tool for collecting patient information, providing new research data, and supporting family and patient associations. However they pose new ethics and regulatory challenges since they cross the gap between patients and medical practitioners. One of the critical issues for CSP is to enforce a strict control on access privileges whilst allowing the users to take advantage of the breadth of the available data. We propose Cerberus, a new access control scheme spanning the whole life-cycle of access right management: design, implementation, deployment and maintenance, operations. Cerberus enables switching from a dual world, where CSP data can be accessed either from the users who entered it or fully de-identified, to an access-when-required world, where patients, practitioners and researchers can access focused medical data through explicit authorisation by the data owner. Efficient access control requires application-specific access rights, as well as the ability to restrict these rights when they are not used. Cerberus is implemented and evaluated in the context of the GENIDA project, an international CSP for Genetically determined Intellectual Disabilities and Autism Spectrum Disorders. As a result of this study, the software is made available for the community, and validated specifications for CSPs are given.

  20. Prediction and Dissection of Protein-RNA Interactions by Molecular Descriptors.

    Science.gov (United States)

    Liu, Zhi-Ping; Chen, Luonan

    2016-01-01

    Protein-RNA interactions play crucial roles in numerous biological processes. However, detecting the interactions and binding sites between protein and RNA by traditional experiments is still time consuming and labor costing. Thus, it is of importance to develop bioinformatics methods for predicting protein-RNA interactions and binding sites. Accurate prediction of protein-RNA interactions and recognitions will highly benefit to decipher the interaction mechanisms between protein and RNA, as well as to improve the RNA-related protein engineering and drug design. In this work, we summarize the current bioinformatics strategies of predicting protein-RNA interactions and dissecting protein-RNA interaction mechanisms from local structure binding motifs. In particular, we focus on the feature-based machine learning methods, in which the molecular descriptors of protein and RNA are extracted and integrated as feature vectors of representing the interaction events and recognition residues. In addition, the available methods are classified and compared comprehensively. The molecular descriptors are expected to elucidate the binding mechanisms of protein-RNA interaction and reveal the functional implications from structural complementary perspective.