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Sample records for variants influencing central

  1. Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.

    Directory of Open Access Journals (Sweden)

    Yi Lu

    2010-05-01

    Full Text Available Central corneal thickness (CCT, one of the most highly heritable human traits (h(2 typically>0.9, is important for the diagnosis of glaucoma and a potential risk factor for glaucoma susceptibility. We conducted genome-wide association studies in five cohorts from Australia and the United Kingdom (total N = 5058. Three cohorts were based on individually genotyped twin collections, with the remaining two cohorts genotyped on pooled samples from singletons with extreme trait values. The pooled sample findings were validated by individual genotyping the pooled samples together with additional samples also within extreme quantiles. We describe methods for efficient combined analysis of the results from these different study designs. We have identified and replicated quantitative trait loci on chromosomes 13 and 16 for association with CCT. The locus on chromosome 13 (nearest gene FOXO1 had an overall meta-analysis p-value for all the individually genotyped samples of 4.6x10(-10. The locus on chromosome 16 was associated with CCT with p = 8.95x10(-11. The nearest gene to the associated chromosome 16 SNPs was ZNF469, a locus recently implicated in Brittle Cornea Syndrome (BCS, a very rare disorder characterized by abnormal thin corneas. Our findings suggest that in addition to rare variants in ZNF469 underlying CCT variation in BCS patients, more common variants near this gene may contribute to CCT variation in the general population.

  2. Genetic variants influencing phenotypic variance heterogeneity.

    Science.gov (United States)

    Ek, Weronica E; Rask-Andersen, Mathias; Karlsson, Torgny; Enroth, Stefan; Gyllensten, Ulf; Johansson, Åsa

    2018-03-01

    Most genetic studies identify genetic variants associated with disease risk or with the mean value of a quantitative trait. More rarely, genetic variants associated with variance heterogeneity are considered. In this study, we have identified such variance single-nucleotide polymorphisms (vSNPs) and examined if these represent biological gene × gene or gene × environment interactions or statistical artifacts caused by multiple linked genetic variants influencing the same phenotype. We have performed a genome-wide study, to identify vSNPs associated with variance heterogeneity in DNA methylation levels. Genotype data from over 10 million single-nucleotide polymorphisms (SNPs), and DNA methylation levels at over 430 000 CpG sites, were analyzed in 729 individuals. We identified vSNPs for 7195 CpG sites (P mean DNA methylation levels. We further showed that variance heterogeneity between genotypes mainly represents additional, often rare, SNPs in linkage disequilibrium (LD) with the respective vSNP and for some vSNPs, multiple low frequency variants co-segregating with one of the vSNP alleles. Therefore, our results suggest that variance heterogeneity of DNA methylation mainly represents phenotypic effects by multiple SNPs, rather than biological interactions. Such effects may also be important for interpreting variance heterogeneity of more complex clinical phenotypes.

  3. Prominent central spinal canal on MRI - normal variant or pathology

    International Nuclear Information System (INIS)

    Dugal, T.P.; Brazier, D.; Roche, J.

    2002-01-01

    Full text: The sensitivity of MRI can make differentiation of normal from abnormal challenging.The study investigates whether a visible central spinal canal is pathological or a normal variant. We review eight MRI (mostly on a 1.5 Tesla unit) cases where there is a visible central cavity in keeping with a central canal and review the literature. The central canal is a space in the medial part of the grey-matter commissure between the anterior and posterior horns. Histopathological studies show that the canal is present at birth with the majority showing subsequent involution but is uncommonly imaged on MRI. The main differential diagnosis is syringomyelia which usually presents with deficits in pain and sensation corresponding to the appropriate level often with a demonstrable aetiology. Two thirds of our patients were female with an average age of thirty-six years (range 26-45). The patients were largely asymptomatic or their symptoms appeared unrelated to the imaging findings. Three patients had minor previous trauma and two others had non-bacterial meningitis up to twenty years earlier. No patient had known spinal surgery or trauma.The cavity corresponded tomographically to the expected site of the central canal. The canal was in the thoracic location. The canal diameter ranged from one to five millimetres and its length varied from one half a vertebral body height to extending over the entire thoracic region. Its configuration was either filiform or fusiform, with smooth contours. No predisposing features to suggest syringomyelia or other structural abnormalities were noted. Where Gadolinium was given no abnormal enhancement was observed. These cases add to the literature and suggest that these prominent canals are largely asymptomatic and should be viewed as normal variants. Copyright (2002) Blackwell Science Pty Ltd

  4. Common genetic variants influence human subcortical brain structures.

    Science.gov (United States)

    Hibar, Derrek P; Stein, Jason L; Renteria, Miguel E; Arias-Vasquez, Alejandro; Desrivières, Sylvane; Jahanshad, Neda; Toro, Roberto; Wittfeld, Katharina; Abramovic, Lucija; Andersson, Micael; Aribisala, Benjamin S; Armstrong, Nicola J; Bernard, Manon; Bohlken, Marc M; Boks, Marco P; Bralten, Janita; Brown, Andrew A; Chakravarty, M Mallar; Chen, Qiang; Ching, Christopher R K; Cuellar-Partida, Gabriel; den Braber, Anouk; Giddaluru, Sudheer; Goldman, Aaron L; Grimm, Oliver; Guadalupe, Tulio; Hass, Johanna; Woldehawariat, Girma; Holmes, Avram J; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H; Olde Loohuis, Loes M; Luciano, Michelle; Macare, Christine; Mather, Karen A; Mattheisen, Manuel; Milaneschi, Yuri; Nho, Kwangsik; Papmeyer, Martina; Ramasamy, Adaikalavan; Risacher, Shannon L; Roiz-Santiañez, Roberto; Rose, Emma J; Salami, Alireza; Sämann, Philipp G; Schmaal, Lianne; Schork, Andrew J; Shin, Jean; Strike, Lachlan T; Teumer, Alexander; van Donkelaar, Marjolein M J; van Eijk, Kristel R; Walters, Raymond K; Westlye, Lars T; Whelan, Christopher D; Winkler, Anderson M; Zwiers, Marcel P; Alhusaini, Saud; Athanasiu, Lavinia; Ehrlich, Stefan; Hakobjan, Marina M H; Hartberg, Cecilie B; Haukvik, Unn K; Heister, Angelien J G A M; Hoehn, David; Kasperaviciute, Dalia; Liewald, David C M; Lopez, Lorna M; Makkinje, Remco R R; Matarin, Mar; Naber, Marlies A M; McKay, D Reese; Needham, Margaret; Nugent, Allison C; Pütz, Benno; Royle, Natalie A; Shen, Li; Sprooten, Emma; Trabzuni, Daniah; van der Marel, Saskia S L; van Hulzen, Kimm J E; Walton, Esther; Wolf, Christiane; Almasy, Laura; Ames, David; Arepalli, Sampath; Assareh, Amelia A; Bastin, Mark E; Brodaty, Henry; Bulayeva, Kazima B; Carless, Melanie A; Cichon, Sven; Corvin, Aiden; Curran, Joanne E; Czisch, Michael; de Zubicaray, Greig I; Dillman, Allissa; Duggirala, Ravi; Dyer, Thomas D; Erk, Susanne; Fedko, Iryna O; Ferrucci, Luigi; Foroud, Tatiana M; Fox, Peter T; Fukunaga, Masaki; Gibbs, J Raphael; Göring, Harald H H; Green, Robert C; Guelfi, Sebastian; Hansell, Narelle K; Hartman, Catharina A; Hegenscheid, Katrin; Heinz, Andreas; Hernandez, Dena G; Heslenfeld, Dirk J; Hoekstra, Pieter J; Holsboer, Florian; Homuth, Georg; Hottenga, Jouke-Jan; Ikeda, Masashi; Jack, Clifford R; Jenkinson, Mark; Johnson, Robert; Kanai, Ryota; Keil, Maria; Kent, Jack W; Kochunov, Peter; Kwok, John B; Lawrie, Stephen M; Liu, Xinmin; Longo, Dan L; McMahon, Katie L; Meisenzahl, Eva; Melle, Ingrid; Mohnke, Sebastian; Montgomery, Grant W; Mostert, Jeanette C; Mühleisen, Thomas W; Nalls, Michael A; Nichols, Thomas E; Nilsson, Lars G; Nöthen, Markus M; Ohi, Kazutaka; Olvera, Rene L; Perez-Iglesias, Rocio; Pike, G Bruce; Potkin, Steven G; Reinvang, Ivar; Reppermund, Simone; Rietschel, Marcella; Romanczuk-Seiferth, Nina; Rosen, Glenn D; Rujescu, Dan; Schnell, Knut; Schofield, Peter R; Smith, Colin; Steen, Vidar M; Sussmann, Jessika E; Thalamuthu, Anbupalam; Toga, Arthur W; Traynor, Bryan J; Troncoso, Juan; Turner, Jessica A; Valdés Hernández, Maria C; van 't Ent, Dennis; van der Brug, Marcel; van der Wee, Nic J A; van Tol, Marie-Jose; Veltman, Dick J; Wassink, Thomas H; Westman, Eric; Zielke, Ronald H; Zonderman, Alan B; Ashbrook, David G; Hager, Reinmar; Lu, Lu; McMahon, Francis J; Morris, Derek W; Williams, Robert W; Brunner, Han G; Buckner, Randy L; Buitelaar, Jan K; Cahn, Wiepke; Calhoun, Vince D; Cavalleri, Gianpiero L; Crespo-Facorro, Benedicto; Dale, Anders M; Davies, Gareth E; Delanty, Norman; Depondt, Chantal; Djurovic, Srdjan; Drevets, Wayne C; Espeseth, Thomas; Gollub, Randy L; Ho, Beng-Choon; Hoffmann, Wolfgang; Hosten, Norbert; Kahn, René S; Le Hellard, Stephanie; Meyer-Lindenberg, Andreas; Müller-Myhsok, Bertram; Nauck, Matthias; Nyberg, Lars; Pandolfo, Massimo; Penninx, Brenda W J H; Roffman, Joshua L; Sisodiya, Sanjay M; Smoller, Jordan W; van Bokhoven, Hans; van Haren, Neeltje E M; Völzke, Henry; Walter, Henrik; Weiner, Michael W; Wen, Wei; White, Tonya; Agartz, Ingrid; Andreassen, Ole A; Blangero, John; Boomsma, Dorret I; Brouwer, Rachel M; Cannon, Dara M; Cookson, Mark R; de Geus, Eco J C; Deary, Ian J; Donohoe, Gary; Fernández, Guillén; Fisher, Simon E; Francks, Clyde; Glahn, David C; Grabe, Hans J; Gruber, Oliver; Hardy, John; Hashimoto, Ryota; Hulshoff Pol, Hilleke E; Jönsson, Erik G; Kloszewska, Iwona; Lovestone, Simon; Mattay, Venkata S; Mecocci, Patrizia; McDonald, Colm; McIntosh, Andrew M; Ophoff, Roel A; Paus, Tomas; Pausova, Zdenka; Ryten, Mina; Sachdev, Perminder S; Saykin, Andrew J; Simmons, Andy; Singleton, Andrew; Soininen, Hilkka; Wardlaw, Joanna M; Weale, Michael E; Weinberger, Daniel R; Adams, Hieab H H; Launer, Lenore J; Seiler, Stephan; Schmidt, Reinhold; Chauhan, Ganesh; Satizabal, Claudia L; Becker, James T; Yanek, Lisa; van der Lee, Sven J; Ebling, Maritza; Fischl, Bruce; Longstreth, W T; Greve, Douglas; Schmidt, Helena; Nyquist, Paul; Vinke, Louis N; van Duijn, Cornelia M; Xue, Luting; Mazoyer, Bernard; Bis, Joshua C; Gudnason, Vilmundur; Seshadri, Sudha; Ikram, M Arfan; Martin, Nicholas G; Wright, Margaret J; Schumann, Gunter; Franke, Barbara; Thompson, Paul M; Medland, Sarah E

    2015-04-09

    The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume and intracranial volume. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10(-33); 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction.

  5. Common genetic variants influence human subcortical brain structures

    Science.gov (United States)

    Hibar, Derrek P.; Stein, Jason L.; Renteria, Miguel E.; Arias-Vasquez, Alejandro; Desrivières, Sylvane; Jahanshad, Neda; Toro, Roberto; Wittfeld, Katharina; Abramovic, Lucija; Andersson, Micael; Aribisala, Benjamin S.; Armstrong, Nicola J.; Bernard, Manon; Bohlken, Marc M.; Boks, Marco P.; Bralten, Janita; Brown, Andrew A.; Chakravarty, M. Mallar; Chen, Qiang; Ching, Christopher R. K.; Cuellar-Partida, Gabriel; den Braber, Anouk; Giddaluru, Sudheer; Goldman, Aaron L.; Grimm, Oliver; Guadalupe, Tulio; Hass, Johanna; Woldehawariat, Girma; Holmes, Avram J.; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H.; Olde Loohuis, Loes M.; Luciano, Michelle; Macare, Christine; Mather, Karen A.; Mattheisen, Manuel; Milaneschi, Yuri; Nho, Kwangsik; Papmeyer, Martina; Ramasamy, Adaikalavan; Risacher, Shannon L.; Roiz-Santiañez, Roberto; Rose, Emma J.; Salami, Alireza; Sämann, Philipp G.; Schmaal, Lianne; Schork, Andrew J.; Shin, Jean; Strike, Lachlan T.; Teumer, Alexander; van Donkelaar, Marjolein M. J.; van Eijk, Kristel R.; Walters, Raymond K.; Westlye, Lars T.; Whelan, Christopher D.; Winkler, Anderson M.; Zwiers, Marcel P.; Alhusaini, Saud; Athanasiu, Lavinia; Ehrlich, Stefan; Hakobjan, Marina M. H.; Hartberg, Cecilie B.; Haukvik, Unn K.; Heister, Angelien J. G. A. M.; Hoehn, David; Kasperaviciute, Dalia; Liewald, David C. M.; Lopez, Lorna M.; Makkinje, Remco R. R.; Matarin, Mar; Naber, Marlies A. M.; McKay, D. Reese; Needham, Margaret; Nugent, Allison C.; Pütz, Benno; Royle, Natalie A.; Shen, Li; Sprooten, Emma; Trabzuni, Daniah; van der Marel, Saskia S. L.; van Hulzen, Kimm J. E.; Walton, Esther; Wolf, Christiane; Almasy, Laura; Ames, David; Arepalli, Sampath; Assareh, Amelia A.; Bastin, Mark E.; Brodaty, Henry; Bulayeva, Kazima B.; Carless, Melanie A.; Cichon, Sven; Corvin, Aiden; Curran, Joanne E.; Czisch, Michael; de Zubicaray, Greig I.; Dillman, Allissa; Duggirala, Ravi; Dyer, Thomas D.; Erk, Susanne; Fedko, Iryna O.; Ferrucci, Luigi; Foroud, Tatiana M.; Fox, Peter T.; Fukunaga, Masaki; Gibbs, J. Raphael; Göring, Harald H. H.; Green, Robert C.; Guelfi, Sebastian; Hansell, Narelle K.; Hartman, Catharina A.; Hegenscheid, Katrin; Heinz, Andreas; Hernandez, Dena G.; Heslenfeld, Dirk J.; Hoekstra, Pieter J.; Holsboer, Florian; Homuth, Georg; Hottenga, Jouke-Jan; Ikeda, Masashi; Jack, Clifford R.; Jenkinson, Mark; Johnson, Robert; Kanai, Ryota; Keil, Maria; Kent, Jack W.; Kochunov, Peter; Kwok, John B.; Lawrie, Stephen M.; Liu, Xinmin; Longo, Dan L.; McMahon, Katie L.; Meisenzahl, Eva; Melle, Ingrid; Mohnke, Sebastian; Montgomery, Grant W.; Mostert, Jeanette C.; Mühleisen, Thomas W.; Nalls, Michael A.; Nichols, Thomas E.; Nilsson, Lars G.; Nöthen, Markus M.; Ohi, Kazutaka; Olvera, Rene L.; Perez-Iglesias, Rocio; Pike, G. Bruce; Potkin, Steven G.; Reinvang, Ivar; Reppermund, Simone; Rietschel, Marcella; Romanczuk-Seiferth, Nina; Rosen, Glenn D.; Rujescu, Dan; Schnell, Knut; Schofield, Peter R.; Smith, Colin; Steen, Vidar M.; Sussmann, Jessika E.; Thalamuthu, Anbupalam; Toga, Arthur W.; Traynor, Bryan J.; Troncoso, Juan; Turner, Jessica A.; Valdés Hernández, Maria C.; van ’t Ent, Dennis; van der Brug, Marcel; van der Wee, Nic J. A.; van Tol, Marie-Jose; Veltman, Dick J.; Wassink, Thomas H.; Westman, Eric; Zielke, Ronald H.; Zonderman, Alan B.; Ashbrook, David G.; Hager, Reinmar; Lu, Lu; McMahon, Francis J.; Morris, Derek W.; Williams, Robert W.; Brunner, Han G.; Buckner, Randy L.; Buitelaar, Jan K.; Cahn, Wiepke; Calhoun, Vince D.; Cavalleri, Gianpiero L.; Crespo-Facorro, Benedicto; Dale, Anders M.; Davies, Gareth E.; Delanty, Norman; Depondt, Chantal; Djurovic, Srdjan; Drevets, Wayne C.; Espeseth, Thomas; Gollub, Randy L.; Ho, Beng-Choon; Hoffmann, Wolfgang; Hosten, Norbert; Kahn, René S.; Le Hellard, Stephanie; Meyer-Lindenberg, Andreas; Müller-Myhsok, Bertram; Nauck, Matthias; Nyberg, Lars; Pandolfo, Massimo; Penninx, Brenda W. J. H.; Roffman, Joshua L.; Sisodiya, Sanjay M.; Smoller, Jordan W.; van Bokhoven, Hans; van Haren, Neeltje E. M.; Völzke, Henry; Walter, Henrik; Weiner, Michael W.; Wen, Wei; White, Tonya; Agartz, Ingrid; Andreassen, Ole A.; Blangero, John; Boomsma, Dorret I.; Brouwer, Rachel M.; Cannon, Dara M.; Cookson, Mark R.; de Geus, Eco J. C.; Deary, Ian J.; Donohoe, Gary; Fernández, Guillén; Fisher, Simon E.; Francks, Clyde; Glahn, David C.; Grabe, Hans J.; Gruber, Oliver; Hardy, John; Hashimoto, Ryota; Hulshoff Pol, Hilleke E.; Jönsson, Erik G.; Kloszewska, Iwona; Lovestone, Simon; Mattay, Venkata S.; Mecocci, Patrizia; McDonald, Colm; McIntosh, Andrew M.; Ophoff, Roel A.; Paus, Tomas; Pausova, Zdenka; Ryten, Mina; Sachdev, Perminder S.; Saykin, Andrew J.; Simmons, Andy; Singleton, Andrew; Soininen, Hilkka; Wardlaw, Joanna M.; Weale, Michael E.; Weinberger, Daniel R.; Adams, Hieab H. H.; Launer, Lenore J.; Seiler, Stephan; Schmidt, Reinhold; Chauhan, Ganesh; Satizabal, Claudia L.; Becker, James T.; Yanek, Lisa; van der Lee, Sven J.; Ebling, Maritza; Fischl, Bruce; Longstreth, W. T.; Greve, Douglas; Schmidt, Helena; Nyquist, Paul; Vinke, Louis N.; van Duijn, Cornelia M.; Xue, Luting; Mazoyer, Bernard; Bis, Joshua C.; Gudnason, Vilmundur; Seshadri, Sudha; Ikram, M. Arfan; Martin, Nicholas G.; Wright, Margaret J.; Schumann, Gunter; Franke, Barbara; Thompson, Paul M.; Medland, Sarah E.

    2015-01-01

    The highly complex structure of the human brain is strongly shaped by genetic influences1. Subcortical brain regions form circuits with cortical areas to coordinate movement2, learning, memory3 and motivation4, and altered circuits can lead to abnormal behaviour and disease2. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume5 and intracranial volume6. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10−33; 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability inhuman brain development, and may help to determine mechanisms of neuropsychiatric dysfunction. PMID:25607358

  6. Central-Variant Posterior Reversible Encephalopathy Syndrome with Albuminocytologic Dissociation.

    Science.gov (United States)

    Lee, Sang-Woo; Lee, Seung-Jae

    2018-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a disorder of reversible vasogenic brain edema which mainly involves the parieto-occipital lobes in various clinical settings. The main mechanism is known to be cerebral autoregulation failure and endothelial dysfunction leading to the disruption of the blood-brain barrier. We report the case of a 47-year-old woman with PRES which involved the brain stem and thalami, sparing the cerebral hemispheres. She was admitted to the emergency room because of acute-onset confusion. Her initial blood pressure was 270/220 mm Hg. Routine blood lab tests showed pleocytosis, hyperglycemia, and azotemia. Brain magnetic resonance imaging (MRI) showed a lesion of vasogenic edema involving nearly the whole area of pons, the left side of the midbrain, and the bilateral medial thalami. Cerebrospinal fluid (CSF) examination revealed an increased level of protein with normal white blood cell count. With conservative care, the patient markedly recovered 3 days after symptom onset, and a follow-up MRI confirmed complete resolution of the vasogenic edema. This case suggests that PRES can rarely involve the "central zone" only, sparing the cerebral hemispheres, which may be confused with other neurological diseases. Besides, the CSF albuminocytologic dissociation may suggest the disruption of the blood-brain barrier in patients with PRES.

  7. Central-Variant Posterior Reversible Encephalopathy Syndrome with Albuminocytologic Dissociation

    Directory of Open Access Journals (Sweden)

    Sang-Woo Lee

    2018-01-01

    Full Text Available Posterior reversible encephalopathy syndrome (PRES is a disorder of reversible vasogenic brain edema which mainly involves the parieto-occipital lobes in various clinical settings. The main mechanism is known to be cerebral autoregulation failure and endothelial dysfunction leading to the disruption of the blood-brain barrier. We report the case of a 47-year-old woman with PRES which involved the brain stem and thalami, sparing the cerebral hemispheres. She was admitted to the emergency room because of acute-onset confusion. Her initial blood pressure was 270/220 mm Hg. Routine blood lab tests showed pleocytosis, hyperglycemia, and azotemia. Brain magnetic resonance imaging (MRI showed a lesion of vasogenic edema involving nearly the whole area of pons, the left side of the midbrain, and the bilateral medial thalami. Cerebrospinal fluid (CSF examination revealed an increased level of protein with normal white blood cell count. With conservative care, the patient markedly recovered 3 days after symptom onset, and a follow-up MRI confirmed complete resolution of the vasogenic edema. This case suggests that PRES can rarely involve the “central zone” only, sparing the cerebral hemispheres, which may be confused with other neurological diseases. Besides, the CSF albuminocytologic dissociation may suggest the disruption of the blood-brain barrier in patients with PRES.

  8. Genetic variants influencing lipid levels and risk of dyslipidemia in ...

    Indian Academy of Sciences (India)

    HUAICHAO LUO

    2017-12-18

    Dec 18, 2017 ... total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C) and triglycerides. (TG) in 1900 ... in Chinese population, especially relationship between these genetic variants ...

  9. Generalization and fine mapping of European ancestry-based central adiposity variants in African ancestry populations.

    Science.gov (United States)

    Yoneyama, S; Yao, J; Guo, X; Fernandez-Rhodes, L; Lim, U; Boston, J; Buzková, P; Carlson, C S; Cheng, I; Cochran, B; Cooper, R; Ehret, G; Fornage, M; Gong, J; Gross, M; Gu, C C; Haessler, J; Haiman, C A; Henderson, B; Hindorff, L A; Houston, D; Irvin, M R; Jackson, R; Kuller, L; Leppert, M; Lewis, C E; Li, R; Le Marchand, L; Matise, T C; Nguyen, K-Dh; Chakravarti, A; Pankow, J S; Pankratz, N; Pooler, L; Ritchie, M D; Bien, S A; Wassel, C L; Chen, Y-D I; Taylor, K D; Allison, M; Rotter, J I; Schreiner, P J; Schumacher, F; Wilkens, L; Boerwinkle, E; Kooperberg, C; Peters, U; Buyske, S; Graff, M; North, K E

    2017-02-01

    Central adiposity measures such as waist circumference (WC) and waist-to-hip ratio (WHR) are associated with cardiometabolic disorders independently of body mass index (BMI) and are gaining clinically utility. Several studies report genetic variants associated with central adiposity, but most utilize only European ancestry populations. Understanding whether the genetic associations discovered among mainly European descendants are shared with African ancestry populations will help elucidate the biological underpinnings of abdominal fat deposition. To identify the underlying functional genetic determinants of body fat distribution, we conducted an array-wide association meta-analysis among persons of African ancestry across seven studies/consortia participating in the Population Architecture using Genomics and Epidemiology (PAGE) consortium. We used the Metabochip array, designed for fine-mapping cardiovascular-associated loci, to explore novel array-wide associations with WC and WHR among 15 945 African descendants using all and sex-stratified groups. We further interrogated 17 known WHR regions for African ancestry-specific variants. Of the 17 WHR loci, eight single-nucleotide polymorphisms (SNPs) located in four loci were replicated in the sex-combined or sex-stratified meta-analyses. Two of these eight independently associated with WHR after conditioning on the known variant in European descendants (rs12096179 in TBX15-WARS2 and rs2059092 in ADAMTS9). In the fine-mapping assessment, the putative functional region was reduced across all four loci but to varying degrees (average 40% drop in number of putative SNPs and 20% drop in genomic region). Similar to previous studies, the significant SNPs in the female-stratified analysis were stronger than the significant SNPs from the sex-combined analysis. No novel associations were detected in the array-wide analyses. Of 17 previously identified loci, four loci replicated in the African ancestry populations of this

  10. Generalization and fine mapping of European ancestry-based central adiposity variants in African ancestry populations

    Science.gov (United States)

    Yoneyama, Sachiko; Yao, Jie; Guo, Xiuqing; Fernandez-Rhodes, Lindsay; Lim, Unhee; Boston, Jonathan; Buzková, Petra; Carlson, Christopher S.; Cheng, Iona; Cochran, Barbara; Cooper, Richard; Ehret, Georg; Fornage, Myriam; Gong, Jian; Gross, Myron; Gu, C. Charles; Haessler, Jeff; Haiman, Christopher A.; Henderson, Brian; Hindorff, Lucia A.; Houston, Denise; Irvin, Marguerite R.; Jackson, Rebecca; Kuller, Lew; Leppert, Mark; Lewis, Cora E.; Li, Rongling; Le Marchand, Loic; Matise, Tara C.; Nguyen, Khanh-Dung H.; Chakravarti, Aravinda; Pankow, James S.; Pankratz, Nathan; Pooler, Loreall; Ritchie, Marylyn D.; Bien, Stephanie A.; Wassel, Christina L.; Chen, Yii-Der I.; Taylor, Kent D.; Allison, Matthew; Rotter, Jerome I.; Schreiner, Pamela J.; Schumacher, Fredrick; Wilkens, Lynne; Boerwinkle, Eric; Kooperberg, Charles; Peters, Ulrike; Buyske, Steven; Graff, Mariaelisa; North, Kari E.

    2016-01-01

    Background/Objectives Central adiposity measures such as waist circumference (WC) and waist-to-hip ratio (WHR) are associated with cardiometabolic disorders independently of BMI and are gaining clinically utility. Several studies report genetic variants associated with central adiposity, but most utilize only European ancestry populations. Understanding whether the genetic associations discovered among mainly European descendants are shared with African ancestry populations will help elucidate the biological underpinnings of abdominal fat deposition. Subjects/Methods To identify the underlying functional genetic determinants of body fat distribution, we conducted an array-wide association meta-analysis among persons of African ancestry across seven studies/consortia participating in the Population Architecture using Genomics and Epidemiology (PAGE) consortium. We used the Metabochip array, designed for fine mapping cardiovascular associated loci, to explore novel array-wide associations with WC and WHR among 15 945 African descendants using all and sex-stratified groups. We further interrogated 17 known WHR regions for African ancestry-specific variants. Results Of the 17 WHR loci, eight SNPs located in four loci were replicated in the sex-combined or sex-stratified meta-analyses. Two of these eight independently associated with WHR after conditioning on the known variant in European descendants (rs12096179 in TBX15-WARS2 and rs2059092 in ADAMTS9). In the fine mapping assessment, the putative functional region was reduced across all four loci but to varying degrees (average 40% drop in number of putative SNPs and 20% drop in genomic region). Similar to previous studies, the significant SNPs in the female stratified analysis were stronger than the significant SNPs from the sex-combined analysis. No novel associations were detected in the array-wide analyses. Conclusions Of 17 previously identified loci, four loci replicated in the African ancestry populations of

  11. GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease.

    Science.gov (United States)

    Jesús, Silvia; Huertas, Ismael; Bernal-Bernal, Inmaculada; Bonilla-Toribio, Marta; Cáceres-Redondo, María Teresa; Vargas-González, Laura; Gómez-Llamas, Myriam; Carrillo, Fátima; Calderón, Enrique; Carballo, Manuel; Gómez-Garre, Pilar; Mir, Pablo

    2016-01-01

    The presence of mutations in glucocerebrosidase (GBA) gene is a known factor increasing the risk of developing Parkinson's disease (PD). Mutations carriers have earlier disease onset and are more likely to develop neuropsychiatric symptoms than other sporadic PD cases. These symptoms have primarily been observed in Parkinson's patients carrying the most common pathogenic mutations L444P and N370S. However, recent findings suggest that other variants across the gene may have a different impact on the phenotype as well as on the disease progression. We aimed to explore the influence of variants across GBA gene on the clinical features and treatment related complications in PD. In this study, we screened the GBA gene in a cohort of 532 well-characterised PD patients and 542 controls from southern Spain. The potential pathogeniticy of the identified variants was assessed using in-silico analysis and subsequently classified as benign or deleterious. As a result, we observed a higher frequency of GBA variants in PD patients (12.2% vs. 7.9% in controls, p = 0.021), earlier mean age at disease onset in GBA variant carriers (50.6 vs. 56.6 years; p = 0.013), as well as more prevalent motor and non-motor symptoms in patients carrying deleterious variants. In addition, we found that dopaminergic motor complications are influenced by both benign and deleterious variants. Our results highlight the fact that the impact on the phenotype highly depends on the potential pathogenicity of the carried variants. Therefore, the course of motor and non-motor symptoms as well as treatment-related motor complications could be influenced by GBA variants.

  12. GBA Variants Influence Motor and Non-Motor Features of Parkinson’s Disease

    Science.gov (United States)

    Jesús, Silvia; Huertas, Ismael; Cáceres-Redondo, María Teresa; Vargas-González, Laura; Gómez-Llamas, Myriam; Carrillo, Fátima; Calderón, Enrique; Carballo, Manuel; Gómez-Garre, Pilar; Mir, Pablo

    2016-01-01

    The presence of mutations in glucocerebrosidase (GBA) gene is a known factor increasing the risk of developing Parkinson’s disease (PD). Mutations carriers have earlier disease onset and are more likely to develop neuropsychiatric symptoms than other sporadic PD cases. These symptoms have primarily been observed in Parkinson’s patients carrying the most common pathogenic mutations L444P and N370S. However, recent findings suggest that other variants across the gene may have a different impact on the phenotype as well as on the disease progression. We aimed to explore the influence of variants across GBA gene on the clinical features and treatment related complications in PD. In this study, we screened the GBA gene in a cohort of 532 well-characterised PD patients and 542 controls from southern Spain. The potential pathogeniticy of the identified variants was assessed using in-silico analysis and subsequently classified as benign or deleterious. As a result, we observed a higher frequency of GBA variants in PD patients (12.2% vs. 7.9% in controls, p = 0.021), earlier mean age at disease onset in GBA variant carriers (50.6 vs. 56.6 years; p = 0.013), as well as more prevalent motor and non-motor symptoms in patients carrying deleterious variants. In addition, we found that dopaminergic motor complications are influenced by both benign and deleterious variants. Our results highlight the fact that the impact on the phenotype highly depends on the potential pathogenicity of the carried variants. Therefore, the course of motor and non-motor symptoms as well as treatment-related motor complications could be influenced by GBA variants. PMID:28030538

  13. GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease.

    Directory of Open Access Journals (Sweden)

    Silvia Jesús

    Full Text Available The presence of mutations in glucocerebrosidase (GBA gene is a known factor increasing the risk of developing Parkinson's disease (PD. Mutations carriers have earlier disease onset and are more likely to develop neuropsychiatric symptoms than other sporadic PD cases. These symptoms have primarily been observed in Parkinson's patients carrying the most common pathogenic mutations L444P and N370S. However, recent findings suggest that other variants across the gene may have a different impact on the phenotype as well as on the disease progression. We aimed to explore the influence of variants across GBA gene on the clinical features and treatment related complications in PD. In this study, we screened the GBA gene in a cohort of 532 well-characterised PD patients and 542 controls from southern Spain. The potential pathogeniticy of the identified variants was assessed using in-silico analysis and subsequently classified as benign or deleterious. As a result, we observed a higher frequency of GBA variants in PD patients (12.2% vs. 7.9% in controls, p = 0.021, earlier mean age at disease onset in GBA variant carriers (50.6 vs. 56.6 years; p = 0.013, as well as more prevalent motor and non-motor symptoms in patients carrying deleterious variants. In addition, we found that dopaminergic motor complications are influenced by both benign and deleterious variants. Our results highlight the fact that the impact on the phenotype highly depends on the potential pathogenicity of the carried variants. Therefore, the course of motor and non-motor symptoms as well as treatment-related motor complications could be influenced by GBA variants.

  14. Genetic variants in CHI3L1 influencing YKL-40 levels

    DEFF Research Database (Denmark)

    Kjaergaard, Alisa D; Johansen, Julia S; Nordestgaard, Børge G

    2013-01-01

    Despite its important role in many serious diseases, the genetic background for plasma YKL-40 has still not been systematically catalogued. Therefore, we aimed at identifying genetic variants in CHI3L1 influencing plasma YKL-40 levels in the general population.......Despite its important role in many serious diseases, the genetic background for plasma YKL-40 has still not been systematically catalogued. Therefore, we aimed at identifying genetic variants in CHI3L1 influencing plasma YKL-40 levels in the general population....

  15. Sex-specific association between functional neuropeptide S receptor gene (NPSR1) variants and cortisol and central stress responses.

    Science.gov (United States)

    Streit, Fabian; Akdeniz, Ceren; Haddad, Leila; Kumsta, Robert; Entringer, Sonja; Frank, Josef; Yim, Ilona S; Zänkert, Sandra; Witt, Stephanie H; Kirsch, Peter; Rietschel, Marcella; Wüst, Stefan

    2017-02-01

    The brain neuropeptide S (NPS) system has recently generated substantial interest and may be of major relevance for central stress regulation. The NPS receptor (NPSR1) is highly expressed in the limbic system, exogenous NPS exerts pronounced anxiolytic and fear-attenuating effects in rodents and extensive close crosstalk between the NPS system and the hypothalamic-pituitary-adrenal (HPA) axis has been demonstrated. In humans, associations between NPSR1 variants and anxiety and panic disorder, as well as amygdala responsiveness to fear- relevant faces and prefrontal cortex activity in a fear conditioning paradigm have been reported. Moreover, a NPSR1 sequence variant was found to be associated with cortisol stress responses in males. Here, we performed a haplotype-based analysis covering three functional NPSR1 single nucleotide polymorphisms in the promoter (rs2530547), in exon 3 (rs324981) and exon 6 (rs727162) in 277 healthy subjects who were exposed to the Trier Social Stress Test (TSST). A significant sex-specific association with salivary cortisol responses to acute psychosocial stress was detected for the common TTC haplotype 2 (frequency of about 20%). In an additional study using an imaging genetics approach, 65 healthy subjects were exposed to a stress paradigm for scanner environments (“ScanSTRESS”). We found a significant and, again, sex-specific interaction between rs324981 (whose minor T-allele is harbored by haplotype 2) and the neural stress response in a cluster close to the parahippocampal gyrus (whole brain corrected). Moreover, as in the TSST sample, NPSR1 variation was associated with salivary cortisol responses (on a trend level) in a sex-specific way. In summary, our preliminary findings in two independent cohorts exposed to different stress paradigms suggest that the NPS system significantly influences acute stress responses and that sequence variation in NPSR1 may contribute to sex differences in stress regulation. Copyright © 2016

  16. Common genetic variants influence human subcortical brain structures

    NARCIS (Netherlands)

    Hibar, D.P.; Stein, J.L.; Renteria, M.E.; Arias-Vasquez, A.; Desrivières, S.; Jahanshad, N.; Toro, R.; Wittfeld, K.; Abramovic, L.; Andersson, M.; Aribisala, B.S.; Armstrong, N.J.; Bernard, M.; Bohlken, M.M.; Biks, M.P.; Bralten, J.; Brown, A.A.; Chakravarty, M.M.; Chen, Q.; Ching, C.R.K.; Cuellar-Partida, G.; den Braber, A.; Giddaluru, S.; Goldman, A.L.; Grimm, O.; Guadalupe, T.; Hass, J.; Woldehawariat, G.; Holmes, A.J.; Hoogman, M.; Janowitz, D.; Jia, T.; Kim, S.; Klein, M.; Kraemer, B.; Lee, P.H.; Olde Loohuis, L.M.; Luciano, M.; Macare, C.; Mather, K.A.; Mattheisen, M.; Milaneschi, Y.; Nho, K.; Papmeyer, M.; Ramasamy, A.; Risacher, S.L.; Roiz-Santiañez, R.; Rose, E.J.; Salami, A.; Sämann, P.G.; Schmaal, L.; Schork, A.J.; Shin, J.; Strike, L.T.; Teumer, A.; Donkelaar, M.M.J.; van Eijk, K.R.; Walters, R.K.; Westlye, L.T.; Welan, C.D.; Winkler, A.M.; Zwiers, M.P.; Alhusaini, S.; Athanasiu, L.; Ehrlich, S.; Hakobjan, M.M.H.; Hartberg, C.B.; Haukvik, U.K.; Heister, A.J.G.A.M.; Hoehn, D.; Kasperaviciute, D.; Liewald, D.C.M.; Lopez, L.M.; Makkinje, R.R.; Matarin, M.; Naber, M.A.M.; Reese McKay, D.; Needham, M.; Nugent, A.C.; Pütz, B.; Royle, N.A.; Shen, L.; Sprooten, E.; Trabzuni, D.; van der Marel, S.S.L.; van Hulzen, K.J.E.; Walton, E.; Wolf, C.; Almasy, L.; Ames, D.; Arepalli, S.; Assareh, A.A.; Bastin, M.E.; Brodaty, H.; Bulayeva, K.B.; Carless, M.A.; Cichon, S.; Corvin, A.; Curran, J.E.; Czisch, M.; de Zubicaray, G.I.; Dillman, A.; Duggirala, R.; Dyer, T.D.; Erk, S.; Fedko, I.O.; Ferrucci, L.; Foroud, T.M.; Fox, P.T.; Fukunaga, M.; Gibbs, J.R.; Göring, H.H.H.; Green, R.C.; Guelfi, S.; Hansell, N.K.; Hartman, C.A.; Hegenscheid, K.; Heinz, A.; Hernandez, D.G.; Heslenfeld, D.J.; Hoekstra, P.J.; Holsboer, F.; Homuth, G.; Hottenga, J.J.; Ikeda, M.; Jack, C.R., Jr.; Jenkinson, M.; Johnson, R.; Kanai, R.; Keil, M.; Kent, J.W. Jr.; Kochunov, P.; Kwok, J.B.; Lawrie, S.M.; Liu, X.; Longo, D.L.; McMahon, K.L.; Meisenzahl, E.; Melle, I.; Mohnke, S.; Montgomery, G.W.; Mostert, J.C.; Mühleisen, T.W.; Nalls, M.A.; Nichols, T.E.; Nilsson, L.G.; Nöthen, M.M.; Ohi, K.; Olvera, R.L.; Perez-Iglesias, R.; Pike, G.B.; Potkin, S.G.; Reinvang, I.; Reppermund, S.; Rietschel, M.; Romanczuk-Seiferth, N.; Rosen, G.D.; Rujescu, D.; Schnell, K.; Schofield, P.R.; Smith, C.; Steen, V.M.; Sussmann, J.E.; Thalamuthu, A.; Toga, A.W.; Traynor, B.J.; Troncoso, J.; Turner, J.A.; Valdés Hernández, M.C.; van t Ent, D.; van der Brug, M.; van der Wee, N.J.A.; van Tol, M.J.; Veltman, D.J.; Wassink, T.H.; Westmann, E.; Zielke, R.H.; Zonderman, A.B.; Ashbrook, D.G.; Hager, R.; Lu, L.; McMahon, F.J.; Morris, D.W.; Williams, R.W.; Brunner, H.G.; Buckner, R.L.; Buitelaar, J.K.; Cahn, W.; Calhoun, V.D.; Cavalleri, G.L.; Crespo-Facorro, B.; Dale, A.M.; Davies, G.E.; Delanty, N.; Depondt, C.; Djurovic, S.; Drevets, W.C.; Espeseth, T.; Gollub, R.L.; Ho, B.C.; Hoffmann, W.; Hosten, N.; Kahn, R.S.; Le Hellard, S.; Meyer-Lindenberg, A.; Müller-Myhsok, B.; Nauck, M.; Nyberg, L.; Pandolfo, M.; Penninx, B.W.J.H.; Roffman, J.L.; Sisodiya, SM; Smoller, J.W.; van Bokhoven, H.; van Haren, N.E.M.; Völzke, H.; Walter, H.; Weiner, M.W.; Wen, W.; White, T.; Agartz, I.; Andreassen, O.A.; Blangero, J.; Boomsma, D.I.; Brouwer, R.M.; Cannon, D.M.; Cookson, M.R.; de Geus, E.J.C.; Deary, I.J.; Donohoe, G.; Fernandez, G.; Fisher, S.E.; Francks, C.; Glahn, D.C.; Grabe, H.J.; Gruber, O.; Hardy, J.; Hashimoto, R.; Hulshoff Pol, H.E.; Jönsson, E.G.; Kloszewska, I.; Lovestone, S.; Mattay, V.S.; Mecocci, P.; McDonald, C.; McIntosh, A.M.; Ophoff, R.A.; Paus, T.; Pausova, Z.; Ryten, M.; Sachdev, P.S.; Saykin, A.J.; Simmons, A.; Singleton, A.; Soininen, H.; Wardlaw, J.M.; Weale, M.E.; Weinberger, D.R.; Adams, H.H.H.; Launer, L.J.; Seiler, S.; Schmidt, R.; Chauhan, G.; Satizabal, C.L.; Becker, J.T.; Yanek, L.; van der Lee, S.J.; Ebling, M.; Fischl, B.; Longstreth, Jr. W.T.; Greve, D.; Schmidt, H.; Nyquist, P.; Vinke, L.N.; van Duijn, C.M.; Xue, L.; Mazoyer, B.; Bis, J.C.; Gudnason, V.; Seshadri, S.; Arfan Ikram, M.; Martin, N.G.; Wright, M.J.; Schumann, G.; Franke, B.; Thompson, P.M.; Medland, S.E.

    2015-01-01

    The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate how common

  17. Common genetic variants influence human subcortical brain structures

    NARCIS (Netherlands)

    D.P. Hibar (Derrek); J.L. Stein; M.E. Rentería (Miguel); A. Arias-Vásquez (Alejandro); S. Desrivières (Sylvane); N. Jahanshad (Neda); R. Toro (Roberto); K. Wittfeld (Katharina); L. Abramovic (Lucija); M. Andersson (Micael); B. Aribisala (Benjamin); N.J. Armstrong (Nicola J.); M. Bernard (Manon); M.M. Bohlken (Marc M.); M.P.M. Boks (Marco); L.B.C. Bralten (Linda); A.A. Brown (Andrew); M.M. Chakravarty (M. Mallar); Q. Chen (Qiang); C.R.K. Ching (Christopher); G. Cuellar-Partida (Gabriel); A. den Braber (Anouk); S. Giddaluru (Sudheer); A.L. Goldman (Aaron L.); O. Grimm (Oliver); T. Guadalupe (Tulio); J. Hass (Johanna); G. Woldehawariat (Girma); A.J. Holmes (Avram); M. Hoogman (Martine); D. Janowitz (Deborah); T. Jia (Tianye); S. Kim (Shinseog); M. Klein (Marieke); B. Kraemer (Bernd); P.H. Lee (Phil H.); L.M. Olde Loohuis (Loes M.); M. Luciano (Michelle); C. MacAre (Christine); R. Mather; M. Mattheisen (Manuel); Y. Milaneschi (Yuri); K. Nho (Kwangsik); M. Papmeyer (Martina); A. Ramasamy (Adaikalavan); S.L. Risacher (Shannon); R. Roiz-Santiañez (Roberto); E.J. Rose (Emma); A. Salami (Alireza); P.G. Sämann (Philipp); L. Schmaal (Lianne); N.J. Schork (Nicholas); J. Shin (Jean); L.T. Strike (Lachlan); A. Teumer (Alexander); M.M.J. Van Donkelaar (Marjolein M. J.); K.R. van Eijk (Kristel); R.K. Walters (Raymond); L.T. Westlye (Lars); C.D. Whelan (Christopher); A.M. Winkler (Anderson); M.P. Zwiers (Marcel); S. Alhusaini (Saud); L. Athanasiu (Lavinia); S.M. Ehrlich (Stefan); M. Hakobjan (Marina); C.B. Hartberg (Cecilie B.); U.K. Haukvik (Unn); A.J.G.A.M. Heister (Angelien J. G. A. M.); D. Hoehn (David); D. Kasperaviciute (Dalia); D.C. Liewald (David C.); L.M. Lopez (Lorna); R.R.R. Makkinje (Remco R. R.); M. Matarin (Mar); M.A.M. Naber (Marlies A. M.); D. Reese McKay; M. Needham (Margaret); A.C. Nugent (Allison); B. Pütz (Benno); N.A. Royle (Natalie); L. Shen (Li); R. Sprooten (Roy); D. Trabzuni (Danyah); S.S.L. Van Der Marel (Saskia S. L.); K.J.E. Van Hulzen (Kimm J. E.); E. Walton (Esther); A. Björnsson (Asgeir); L. Almasy (Laura); D.J. Ames (David); S. Arepalli (Sampath); A.A. Assareh; M.E. Bastin (Mark); H. Brodaty (Henry); K. Bulayeva (Kazima); M.A. Carless (Melanie); S. Cichon (Sven); A. Corvin (Aiden); J.E. Curran (Joanne); M. Czisch (Michael); G.I. de Zubicaray (Greig); A. Dillman (Allissa); A. Duggirala (Aparna); M.D. Dyer (Matthew); S. Erk; I. Fedko (Iryna); L. Ferrucci (Luigi); T. Foroud (Tatiana); P.T. Fox (Peter); M. Fukunaga (Masaki); J. Raphael Gibbs; H.H.H. Göring (Harald H.); R.C. Green (Robert C.); S. Guelfi (Sebastian); N.K. Hansell (Narelle); C.A. Hartman (Catharina); K. Hegenscheid (Katrin); J. Heinz (Judith); D.G. Hernandez (Dena); D.J. Heslenfeld (Dirk); P.J. Hoekstra (Pieter); F. Holsboer; G. Homuth (Georg); J.J. Hottenga (Jouke Jan); M. Ikeda (Masashi); C.R. Jack Jr. (Clifford); S. Jenkinson (Sarah); R. Johnson (Robert); R. Kanai (Ryota); M. Keil (Maria); J.W. Kent (Jack W.); P. Kochunov (Peter); J.B. Kwok (John B.); S. Lawrie (Stephen); X. Liu (Xinmin); D.L. Longo (Dan L.); K.L. Mcmahon (Katie); E. Meisenzahl (Eva); I. Melle (Ingrid); S. Mohnke (Sebastian); G.W. Montgomery (Grant); J.C. Mostert (Jeanette C.); T.W. Mühleisen (Thomas); M.A. Nalls (Michael); T.E. Nichols (Thomas); L.G. Nilsson; M.M. Nöthen (Markus); K. Ohi (Kazutaka); R.L. Olvera (Rene); R. Perez-Iglesias (Rocio); G. Bruce Pike; S.G. Potkin (Steven); I. Reinvang (Ivar); S. Reppermund; M. Rietschel (Marcella); N. Seiferth (Nina); G.D. Rosen (Glenn D.); D. Rujescu (Dan); K. Schnell (Kerry); C.J. Schofield (Christopher); C. Smith (Colin); V.M. Steen (Vidar); J. Sussmann (Jessika); A. Thalamuthu (Anbupalam); A.W. Toga (Arthur W.); B. Traynor (Bryan); J.C. Troncoso (Juan); J. Turner (Jessica); M.C. Valdés Hernández (Maria); D. van 't Ent (Dennis); M.P. van der Brug (Marcel); N.J. van der Wee (Nic); M.J.D. van Tol (Marie-José); D.J. Veltman (Dick); A.M.J. Wassink (Annemarie); E. Westman (Eric); R.H. Zielke (Ronald H.); A.B. Zonderman (Alan B.); D.G. Ashbrook (David G.); R. Hager (Reinmar); L. Lu (Lu); F.J. Mcmahon (Francis J); D.W. Morris (Derek W); R.W. Williams (Robert W.); H.G. Brunner; M. Buckner; J.K. Buitelaar (Jan K.); W. Cahn (Wiepke); V.D. Calhoun Vince D. (V.); G. Cavalleri (Gianpiero); B. Crespo-Facorro (Benedicto); A.M. Dale (Anders); G.E. Davies (Gareth); N. Delanty; C. Depondt (Chantal); S. Djurovic (Srdjan); D.A. Drevets (Douglas); T. Espeseth (Thomas); R.L. Gollub (Randy); B.C. Ho (Beng ); W. Hoffmann (Wolfgang); N. Hosten (Norbert); R. Kahn (René); S. Le Hellard (Stephanie); A. Meyer-Lindenberg; B. Müller-Myhsok (B.); M. Nauck (Matthias); L. Nyberg (Lars); M. Pandolfo (Massimo); B.W.J.H. Penninx (Brenda); J.L. Roffman (Joshua); S.M. Sisodiya (Sanjay); J.W. Smoller; H. van Bokhoven (Hans); N.E.M. van Haren (Neeltje E.); H. Völzke (Henry); H.J. Walter (Henrik); M.W. Weiner (Michael); W. Wen (Wei); T.J.H. White (Tonya); I. Agartz (Ingrid); O.A. Andreassen (Ole); J. Blangero (John); D.I. Boomsma (Dorret); R.M. Brouwer (Rachel); D.M. Cannon (Dara); M.R. Cookson (Mark); E.J.C. de Geus (Eco); I.J. Deary (Ian J.); D.J. Donohoe (Dennis); G. Fernandez (Guillén); S.E. Fisher (Simon); C. Francks (Clyde); D.C. Glahn (David); H.J. Grabe (Hans Jörgen); O. Gruber (Oliver); J. Hardy (John); R. Hashimoto (Ryota); H.E. Hulshoff Pol (Hilleke); E.G. Jönsson (Erik); I. Kloszewska (Iwona); S. Lovestone (Simon); V.S. Mattay (Venkata S.); P. Mecocci (Patrizia); C. McDonald (Colm); A.M. McIntosh (Andrew); R.A. Ophoff (Roel); T. Paus (Tomas); Z. Pausova (Zdenka); M. Ryten (Mina); P.S. Sachdev (Perminder); A.J. Saykin (Andrew); A. Simmons (Andrew); A. Singleton (Andrew); H. Soininen (H.); J.M. Wardlaw (J.); M.E. Weale (Michael); D.R. Weinberger (Daniel); H.H.H. Adams (Hieab); L.J. Launer (Lenore); S. Seiler (Stephan); R. Schmidt (Reinhold); G. Chauhan (Ganesh); C.L. Satizabal (Claudia L.); J.T. Becker (James); L.R. Yanek (Lisa); S.J. van der Lee (Sven); M. Ebling (Maritza); B. Fischl (Bruce); W.T. Longstreth Jr; D. Greve (Douglas); R. Schmidt (Reinhold); P. Nyquist (Paul); L.N. Vinke (Louis N.); C.M. van Duijn (Cornelia); L. Xue (Luting); B. Mazoyer (Bernard); J.C. Bis (Joshua); V. Gudnason (Vilmundur); S. Seshadri (Sudha); M.A. Ikram (Arfan); N.G. Martin (Nicholas); M.J. Wright (Margaret); G. Schumann (Gunter); B. Franke (Barbara); P.M. Thompson (Paul); S.E. Medland (Sarah Elizabeth)

    2015-01-01

    textabstractThe highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate

  18. Common genetic variants influence human subcortical brain structures

    NARCIS (Netherlands)

    Hibar, Derrek P.; Stein, Jason L.; Renteria, Miguel E.; Arias-Vasquez, Alejandro; Desrivieres, Sylvane; Jahanshad, Neda; Toro, Roberto; Wittfeld, Katharina; Abramovic, Lucija; Andersson, Micael; Aribisala, Benjamin S.; Armstrong, Nicola J.; Bernard, Manon; Bohlken, Marc M.; Boks, Marco P.; Bralten, Janita; Brown, Andrew A.; Chakravarty, M. Mallar; Chen, Qiang; Ching, Christopher R. K.; Cuellar-Partida, Gabriel; den Braber, Anouk; Giddaluru, Sudheer; Goldman, Aaron L.; Grimm, Oliver; Guadalupe, Tulio; Hass, Johanna; Woldehawariat, Girma; Holmes, Avram J.; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H.; Loohuis, Loes M. Olde; Luciano, Michelle; Macare, Christine; Mather, Karen A.; Mattheisen, Manuel; Milaneschi, Yuri; Nho, Kwangsik; Papmeyer, Martina; Ramasamy, Adaikalavan; Risacher, Shannon L.; Roiz-Santianez, Roberto; Rose, Emma J.; Salami, Alireza; Saemann, Philipp G.; Schmaal, Lianne; Schork, Andrew J.; Shin, Jean; Strike, Lachlan T.; Teumer, Alexander; van Donkelaar, Marjolein M. J.; van Eijk, Kristel R.; Walters, Raymond K.; Westlye, Lars T.; Whelan, Christopher D.; Winkler, Anderson M.; Zwiers, Marcel P.; Alhusaini, Saud; Athanasiu, Lavinia; Ehrlich, Stefan; Hakobjan, Marina M. H.; Hartberg, Cecilie B.; Haukvik, Unn K.; Heister, Angelien J. G. A. M.; Hoehn, David; Kasperaviciute, Dalia; Liewald, David C. M.; Lopez, Lorna M.; Makkinje, Remco R. R.; Matarin, Mar; Naber, Marlies A. M.; McKay, D. Reese; Needham, Margaret; Nugent, Allison C.; Puetz, Benno; Royle, Natalie A.; Shen, Li; Sprooten, Emma; Trabzuni, Daniah; van der Marel, Saskia S. L.; van Hulzen, Kimm J. E.; Walton, Esther; Wolf, Christiane; Almasy, Laura; Ames, David; Arepalli, Sampath; Assareh, Amelia A.; Bastin, Mark E.; Brodaty, Henry; Bulayeva, Kazima B.; Carless, Melanie A.; Cichon, Sven; Corvin, Aiden; Curran, Joanne E.; Czisch, Michael; de Zubicaray, Greig I.; Dillman, Allissa; Duggirala, Ravi; Dyer, Thomas D.; Erk, Susanne; Fedko, Iryna O.; Ferrucci, Luigi; Foroud, Tatiana M.; Fox, Peter T.; Fukunaga, Masaki; Gibbs, J. Raphael; Goering, Harald H. H.; Green, Robert C.; Guelfi, Sebastian; Hansell, Narelle K.; Hartman, Catharina A.; Hegenscheid, Katrin; Heinz, Andreas; Hernandez, Dena G.; Heslenfeld, Dirk J.; Hoekstra, Pieter J.; Holsboer, Florian; Homuth, Georg; Hottenga, Jouke-Jan; Ikeda, Masashi; Jack, Clifford R.; Jenkinson, Mark; Johnson, Robert; Kanai, Ryota; Keil, Maria; Kent, Jack W.; Kochunov, Peter; Kwok, John B.; Lawrie, Stephen M.; Liu, Xinmin; Longo, Dan L.; McMahon, Katie L.; Meisenzah, Eva; Melle, Ingrid; Mahnke, Sebastian; Montgomery, Grant W.; Mostert, Jeanette C.; Muehleisen, Thomas W.; Nalls, Michael A.; Nichols, Thomas E.; Nilsson, Lars G.; Noethen, Markus M.; Ohi, Kazutaka; Olvera, Rene L.; Perez-Iglesias, Rocio; Pike, G. Bruce; Potkin, Steven G.; Reinvang, Ivar; Reppermund, Simone; Rietschel, Marcella; Romanczuk-Seiferth, Nina; Rosen, Glenn D.; Rujescu, Dan; Schnell, Knut; Schofield, Peter R.; Smith, Colin; Steen, Vidar M.; Sussmann, Jessika E.; Thalamuthu, Anbupalam; Toga, Arthur W.; Traynor, Bryan J.; Troncoso, Juan; Turner, Jessica A.; Valdes Hernandez, Maria C.; van't Ent, Dennis; van der Brug, Marcel; van der Wee, Nic J. A.; van Tol, Marie-Jose; Veltman, Dick J.; Wassink, Thomas H.; Westman, Eric; Zielke, Ronald H.; Zonderman, Alan B.; Ashbrook, David G.; Hager, Reinmar; Lu, Lu; McMahon, Francis J.; Morris, Derek W.; Williams, Robert W.; Brunner, Han G.; Buckner, Randy L.; Buitelaar, Jan K.; Cahn, Wiepke; Calhoun, Vince D.; Cavalleri, Gianpiero L.; Crespo-Facorro, Benedicto; Dale, Anders M.; Davies, Gareth E.; Delanty, Norman; Depondt, Chantal; Djurovic, Srdjan; Drevets, Wayne C.; Espeseth, Thomas; Gollub, Randy L.; Ho, Beng-Choon; Hoffman, Wolfgang; Hosten, Norbert; Kahn, Rene S.; Le Hellard, Stephanie; Meyer-Lindenberg, Andreas; Mueller-Myhsok, Bertram; Nauck, Matthias; Nyberg, Lars; Pandolfo, Massimo; Penninx, Brenda W. J. H.; Roffman, Joshua L.; Sisodiya, Sanjay M.; Smoller, Jordan W.; van Bokhoven, Hans; van Haren, Neeltje E. M.; Voelzke, Henry; Walter, Henrik; Weiner, Michael W.; Wen, Wei; White, Tonya; Agartz, Ingrid; Andreassen, Ole A.; Blangero, John; Boomsma, Dorret I.; Brouwer, Rachel M.; Cannon, Dara M.; Cookson, Mark R.; de Geus, Eco J. C.; Deary, Ian J.; Donohoe, Gary; Fernandez, Guillen; Fisher, Simon E.; Francks, Clyde; Glahn, David C.; Grabe, Hans J.; Gruber, Oliver; Hardy, John; Hashimoto, Ryota; Pol, Hilleke E. Hulshoff; Joensson, Erik G.; Kloszewska, Iwona; Lovestone, Simon; Mattay, Venkata S.; Mecocci, Patrizia; McDonald, Colm; McIntosh, Andrew M.; Ophoff, Roel A.; Paus, Tomas; Pausova, Zdenka; Ryten, Mina; Sachdev, Perminder S.; Saykin, Andrew J.; Simmons, Andy; Singleton, Andrew; Soininen, Hilkka; Wardlaw, Joanna M.; Weale, Michael E.; Weinberger, Daniel R.; Adams, Hieab H. H.; Launer, Lenore J.; Seiler, Stephan; Schmidt, Reinhold; Chauhan, Ganesh; Satizabal, Claudia L.; Becker, James T.; Yanek, Lisa; van der Lee, Sven J.; Ebling, Maritza; Fischl, Bruce; Longstreth, W. T.; Greve, Douglas; Schmidt, Helena; Nyquist, Paul; Vinke, Louis N.; van Duijn, Cornelia M.; Xue, Luting; Mazoyer, Bernard; Bis, Joshua C.; Gudnason, Vilmundur; Seshadri, Sudha; Ikram, M. Arfan; Martin, Nicholas G.; Wright, Margaret J.; Schumann, Gunter; Franke, Barbara; Thompson, Paul M.; Medland, Sarah E.

    2015-01-01

    The highly complex structure of the human brain is strongly shaped by genetic influences(1). Subcortical brain regions form circuits with cortical areas to coordinate movement(2), learning, memory(3) and motivation(4), and altered circuits can lead to abnormal behaviour and disease(5). To

  19. The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica

    Directory of Open Access Journals (Sweden)

    Fallas Marietha

    2007-05-01

    Full Text Available Abstract Background We are conducting a genetic study of autism in the isolated population of the Central Valley of Costa Rica (CVCR. A novel Neuregulin 1 (NRG1 missense variant (exon 11 G>T was recently associated with psychosis and schizophrenia (SCZ in the same population isolate. Methods We genotyped the NRG1 exon 11 missense variant in 146 cases with autism, or autism spectrum disorder, with CVCR ancestry, and both parents when available (N = 267 parents from 143 independent families. Additional microsatellites were genotyped to examine haplotypes bearing the exon 11 variant. Results The NRG1 exon 11 G>T variant was found in 4/146 cases including one de novo occurrence. The frequency of the variant in case chromosomes was 0.014 and 0.045 in the parental non-transmitted chromosomes. At least 6 haplotypes extending 0.229 Mb were associated with the T allele. Three independent individuals, with no personal or family history of psychiatric disorder, shared at least a 1 megabase haplotype 5' to the T allele. Conclusion The NRG1 exon 11 missense variant is not associated with autism in the CVCR.

  20. Influence Function and Robust Variant of Kernel Canonical Correlation Analysis

    OpenAIRE

    Alam, Md. Ashad; Fukumizu, Kenji; Wang, Yu-Ping

    2017-01-01

    Many unsupervised kernel methods rely on the estimation of the kernel covariance operator (kernel CO) or kernel cross-covariance operator (kernel CCO). Both kernel CO and kernel CCO are sensitive to contaminated data, even when bounded positive definite kernels are used. To the best of our knowledge, there are few well-founded robust kernel methods for statistical unsupervised learning. In addition, while the influence function (IF) of an estimator can characterize its robustness, asymptotic ...

  1. Implications of central obesity-related variants in LYPLAL1, NRXN3, MSRA, and TFAP2B on quantitative metabolic traits in adult Danes.

    Directory of Open Access Journals (Sweden)

    Dorthe S Bille

    Full Text Available Two meta-analyses of genome-wide association studies (GWAS have suggested that four variants: rs2605100 in lysophospholipase-like 1 (LYPLAL1, rs10146997 in neuroxin 3 (NRXN3, rs545854 in methionine sulfoxide reductase A (MSRA, and rs987237 in transcription factor activating enhancer-binding protein 2 beta (TFAP2B associate with measures of central obesity. To elucidate potential underlying phenotypes we aimed to investigate whether these variants associated with: 1 quantitative metabolic traits, 2 anthropometric measures (waist circumference (WC, waist-hip ratio, and BMI, or 3 type 2 diabetes, and central and general overweight and obesity.The four variants were genotyped in Danish individuals using KASPar®. Quantitative metabolic traits were examined in a population-based sample (n = 6,038 and WC and BMI were furthermore analyzed in a combined study sample (n = 13,507. Case-control studies of diabetes and adiposity included 15,326 individuals. The major G-allele of LYPLAL1 rs2605100 associated with increased fasting serum triglyceride concentrations (per allele effect (β = 3%(1;5(95%CI, p(additive = 2.7×10(-3, an association driven by the male gender (p(interaction = 0.02. The same allele associated with increased fasting serum insulin concentrations (β = 3%(1;5, p(additive = 2.5×10(-3 and increased insulin resistance (HOMA-IR (β = 4%(1;6, p(additive = 1.5×10(-3. The minor G-allele of rs10146997 in NRXN3 associated with increased WC among women (β = 0.55cm (0.20;0.89, p(additive = 1.7×10(-3, p(interaction = 1.0×10(-3, but showed no associations with obesity related metabolic traits. The MSRA rs545854 and TFAP2B rs987237 showed nominal associations with central obesity; however, no underlying metabolic phenotypes became obvious, when investigating quantitative metabolic traits. None of the variants influenced the prevalence of type 2 diabetes.We demonstrate that several of the central

  2. Influence of HFE variants and cellular iron on monocyte chemoattractant protein-1

    Directory of Open Access Journals (Sweden)

    Simmons Zachary

    2009-02-01

    Full Text Available Abstract Background Polymorphisms in the MHC class 1-like gene known as HFE have been proposed as genetic modifiers of neurodegenerative diseases that include neuroinflammation as part of the disease process. Variants of HFE are relatively common in the general population and are most commonly associated with iron overload, but can promote subclinical cellular iron loading even in the absence of clinically identified disease. The effects of the variants as well as the resulting cellular iron dyshomeostasis potentially impact a number of disease-associated pathways. We tested the hypothesis that the two most common HFE variants, H63D and C282Y, would affect cellular secretion of cytokines and trophic factors. Methods We screened a panel of cytokines and trophic factors using a multiplexed immunoassay in human neuroblastoma SH-SY5Y cells expressing different variants of HFE. The influence of cellular iron secretion on the potent chemokine monocyte chemoattractant protein-1 (MCP-1 was assessed using ferric ammonium citrate and the iron chelator, desferroxamine. Additionally, an antioxidant, Trolox, and an anti-inflammatory, minocycline, were tested for their effects on MCP-1 secretion in the presence of HFE variants. Results Expression of the HFE variants altered the labile iron pool in SH-SY5Y cells. Of the panel of cytokines and trophic factors analyzed, only the release of MCP-1 was affected by the HFE variants. We further examined the relationship between iron and MCP-1 and found MCP-1 secretion tightly associated with intracellular iron status. A potential direct effect of HFE is considered because, despite having similar levels of intracellular iron, the association between HFE genotype and MCP-1 expression was different for the H63D and C282Y HFE variants. Moreover, HFE genotype was a factor in the effect of minocycline, a multifaceted antibiotic used in treating a number of neurologic conditions associated with inflammation, on MCP-1

  3. Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity

    Science.gov (United States)

    Jahanshad, Neda; Rajagopalan, Priya; Hua, Xue; Hibar, Derrek P.; Nir, Talia M.; Toga, Arthur W.; Jack, Clifford R.; Saykin, Andrew J.; Green, Robert C.; Weiner, Michael W.; Medland, Sarah E.; Montgomery, Grant W.; Hansell, Narelle K.; McMahon, Katie L.; de Zubicaray, Greig I.; Martin, Nicholas G.; Wright, Margaret J.; Thompson, Paul M.; Weiner, Michael; Aisen, Paul; Weiner, Michael; Aisen, Paul; Petersen, Ronald; Jack, Clifford R.; Jagust, William; Trojanowski, John Q.; Toga, Arthur W.; Beckett, Laurel; Green, Robert C.; Saykin, Andrew J.; Morris, John; Liu, Enchi; Green, Robert C.; Montine, Tom; Petersen, Ronald; Aisen, Paul; Gamst, Anthony; Thomas, Ronald G.; Donohue, Michael; Walter, Sarah; Gessert, Devon; Sather, Tamie; Beckett, Laurel; Harvey, Danielle; Gamst, Anthony; Donohue, Michael; Kornak, John; Jack, Clifford R.; Dale, Anders; Bernstein, Matthew; Felmlee, Joel; Fox, Nick; Thompson, Paul; Schuff, Norbert; Alexander, Gene; DeCarli, Charles; Jagust, William; Bandy, Dan; Koeppe, Robert A.; Foster, Norm; Reiman, Eric M.; Chen, Kewei; Mathis, Chet; Morris, John; Cairns, Nigel J.; Taylor-Reinwald, Lisa; Trojanowki, J.Q.; Shaw, Les; Lee, Virginia M.Y.; Korecka, Magdalena; Toga, Arthur W.; Crawford, Karen; Neu, Scott; Saykin, Andrew J.; Foroud, Tatiana M.; Potkin, Steven; Shen, Li; Khachaturian, Zaven; Frank, Richard; Snyder, Peter J.; Molchan, Susan; Kaye, Jeffrey; Quinn, Joseph; Lind, Betty; Dolen, Sara; Schneider, Lon S.; Pawluczyk, Sonia; Spann, Bryan M.; Brewer, James; Vanderswag, Helen; Heidebrink, Judith L.; Lord, Joanne L.; Petersen, Ronald; Johnson, Kris; Doody, Rachelle S.; Villanueva-Meyer, Javier; Chowdhury, Munir; Stern, Yaakov; Honig, Lawrence S.; Bell, Karen L.; Morris, John C.; Ances, Beau; Carroll, Maria; Leon, Sue; Mintun, Mark A.; Schneider, Stacy; Marson, Daniel; Griffith, Randall; Clark, David; Grossman, Hillel; Mitsis, Effie; Romirowsky, Aliza; deToledo-Morrell, Leyla; Shah, Raj C.; Duara, Ranjan; Varon, Daniel; Roberts, Peggy; Albert, Marilyn; Onyike, Chiadi; Kielb, Stephanie; Rusinek, Henry; de Leon, Mony J.; Glodzik, Lidia; De Santi, Susan; Doraiswamy, P. Murali; Petrella, Jeffrey R.; Coleman, R. Edward; Arnold, Steven E.; Karlawish, Jason H.; Wolk, David; Smith, Charles D.; Jicha, Greg; Hardy, Peter; Lopez, Oscar L.; Oakley, MaryAnn; Simpson, Donna M.; Porsteinsson, Anton P.; Goldstein, Bonnie S.; Martin, Kim; Makino, Kelly M.; Ismail, M. Saleem; Brand, Connie; Mulnard, Ruth A.; Thai, Gaby; Mc-Adams-Ortiz, Catherine; Womack, Kyle; Mathews, Dana; Quiceno, Mary; Diaz-Arrastia, Ramon; King, Richard; Weiner, Myron; Martin-Cook, Kristen; DeVous, Michael; Levey, Allan I.; Lah, James J.; Cellar, Janet S.; Burns, Jeffrey M.; Anderson, Heather S.; Swerdlow, Russell H.; Apostolova, Liana; Lu, Po H.; Bartzokis, George; Silverman, Daniel H.S.; Graff-Radford, Neill R.; Parfitt, Francine; Johnson, Heather; Farlow, Martin R.; Hake, Ann Marie; Matthews, Brandy R.; Herring, Scott; van Dyck, Christopher H.; Carson, Richard E.; MacAvoy, Martha G.; Chertkow, Howard; Bergman, Howard; Hosein, Chris; Black, Sandra; Stefanovic, Bojana; Caldwell, Curtis; Hsiung, Ging-Yuek Robin; Feldman, Howard; Mudge, Benita; Assaly, Michele; Kertesz, Andrew; Rogers, John; Trost, Dick; Bernick, Charles; Munic, Donna; Kerwin, Diana; Mesulam, Marek-Marsel; Lipowski, Kristina; Wu, Chuang-Kuo; Johnson, Nancy; Sadowsky, Carl; Martinez, Walter; Villena, Teresa; Turner, Raymond Scott; Johnson, Kathleen; Reynolds, Brigid; Sperling, Reisa A.; Johnson, Keith A.; Marshall, Gad; Frey, Meghan; Yesavage, Jerome; Taylor, Joy L.; Lane, Barton; Rosen, Allyson; Tinklenberg, Jared; Sabbagh, Marwan; Belden, Christine; Jacobson, Sandra; Kowall, Neil; Killiany, Ronald; Budson, Andrew E.; Norbash, Alexander; Johnson, Patricia Lynn; Obisesan, Thomas O.; Wolday, Saba; Bwayo, Salome K.; Lerner, Alan; Hudson, Leon; Ogrocki, Paula; Fletcher, Evan; Carmichael, Owen; Olichney, John; DeCarli, Charles; Kittur, Smita; Borrie, Michael; Lee, T.-Y.; Bartha, Rob; Johnson, Sterling; Asthana, Sanjay; Carlsson, Cynthia M.; Potkin, Steven G.; Preda, Adrian; Nguyen, Dana; Tariot, Pierre; Fleisher, Adam; Reeder, Stephanie; Bates, Vernice; Capote, Horacio; Rainka, Michelle; Scharre, Douglas W.; Kataki, Maria; Zimmerman, Earl A.; Celmins, Dzintra; Brown, Alice D.; Pearlson, Godfrey D.; Blank, Karen; Anderson, Karen; Saykin, Andrew J.; Santulli, Robert B.; Schwartz, Eben S.; Sink, Kaycee M.; Williamson, Jeff D.; Garg, Pradeep; Watkins, Franklin; Ott, Brian R.; Querfurth, Henry; Tremont, Geoffrey; Salloway, Stephen; Malloy, Paul; Correia, Stephen; Rosen, Howard J.; Miller, Bruce L.; Mintzer, Jacobo; Longmire, Crystal Flynn; Spicer, Kenneth; Finger, Elizabeth; Rachinsky, Irina; Rogers, John; Kertesz, Andrew; Drost, Dick

    2013-01-01

    Aberrant connectivity is implicated in many neurological and psychiatric disorders, including Alzheimer’s disease and schizophrenia. However, other than a few disease-associated candidate genes, we know little about the degree to which genetics play a role in the brain networks; we know even less about specific genes that influence brain connections. Twin and family-based studies can generate estimates of overall genetic influences on a trait, but genome-wide association scans (GWASs) can screen the genome for specific variants influencing the brain or risk for disease. To identify the heritability of various brain connections, we scanned healthy young adult twins with high-field, high-angular resolution diffusion MRI. We adapted GWASs to screen the brain’s connectivity pattern, allowing us to discover genetic variants that affect the human brain’s wiring. The association of connectivity with the SPON1 variant at rs2618516 on chromosome 11 (11p15.2) reached connectome-wide, genome-wide significance after stringent statistical corrections were enforced, and it was replicated in an independent subsample. rs2618516 was shown to affect brain structure in an elderly population with varying degrees of dementia. Older people who carried the connectivity variant had significantly milder clinical dementia scores and lower risk of Alzheimer’s disease. As a posthoc analysis, we conducted GWASs on several organizational and topological network measures derived from the matrices to discover variants in and around genes associated with autism (MACROD2), development (NEDD4), and mental retardation (UBE2A) significantly associated with connectivity. Connectome-wide, genome-wide screening offers substantial promise to discover genes affecting brain connectivity and risk for brain diseases. PMID:23471985

  4. The methylenetetrahydrofolate reductase gene variant C677T influences susceptibility to migraine with aura

    Directory of Open Access Journals (Sweden)

    Sundholm James

    2004-02-01

    Full Text Available Abstract Background The C677T variant in the methylenetetrahydrofolate reductase (MTHFR gene is associated with increased levels of circulating homocysteine and is a mild risk factor for vascular disease. Migraine, with and without aura (MA and MO, is a prevalent and complex neurovascular disorder that may also be affected by genetically influenced hyperhomocysteinaemia. To determine whether the C677T variant in the MTHFR gene is associated with migraine susceptibility we utilised unrelated and family-based case-control study designs. Methods A total of 652 Caucasian migraine cases were investigated in this study. The MTHFR C677T variant was genotyped in 270 unrelated migraine cases and 270 controls as well as 382 affected subjects from 92 multiplex pedigrees. Results In the unrelated case-control sample we observed an over-representation of the 677T allele in migraine patients compared to controls, specifically for the MA subtype (40% vs. 33% (χ2 = 5.70, P = 0.017. The Armitage test for trend indicated a significant dosage effect of the risk allele (T for MA (χ2 = 5.72, P = 0.017. This linear trend was also present in the independent family-based sample (χ2 = 4.25, Padjusted = 0.039. Overall, our results indicate that the T/T genotype confers a modest, yet significant, increase in risk for the MA subtype (odds ratio: 2.0 – 2.5. No increased risk for the MO subtype was observed (P > 0.05. Conclusions In Caucasians, the C677T variant in the MTHFR gene influences susceptibility to MA, but not MO. Investigation into the enzyme activity of MTHFR and the role of homocysteine in the pathophysiology of migraine is warranted.

  5. Influence of arm movement on central tip location of peripherally inserted central catheters (PICCs)

    International Nuclear Information System (INIS)

    Connolly, Bairbre; Amaral, Joao; Walsh, Sharon; Temple, Michael; Chait, Peter; Stephens, Derek

    2006-01-01

    PICCs are increasingly employed in children. Some of their risks relate to the location of the central tip. Despite care when placing lines, they sometimes move. To evaluate the influence of arm movement on the central tip location of PICCs placed in children. The central tip location of PICCs was studied in 85 children, with the arm placed in six positions. The variables of side, vein, site and arm position were examined to measure the direction and range of tip movement. The side, site or vein used did not influence the range of movement of the central tip. Change in position of the arm had a significant influence on the central tip location, moving it an average of 2.2 rib spaces, a maximum of 3.5 ribs. Elbow bending and adduction of the arm caused the central tip to move deeper into the chest, compared to when the arm was straight and abducted 90 . Arm position is the significant variable influencing PICC movement. Side, site and vein do not influence the range of movement significantly. Most PICCs descend deeper into the chest with arm adduction and elbow bending. (orig.)

  6. Inherited Variants in Wnt Pathway Genes Influence Outcomes of Prostate Cancer Patients Receiving Androgen Deprivation Therapy

    Directory of Open Access Journals (Sweden)

    Jiun-Hung Geng

    2016-11-01

    Full Text Available Aberrant Wnt signaling has been associated with many types of cancer. However, the association of inherited Wnt pathway variants with clinical outcomes in prostate cancer patients receiving androgen deprivation therapy (ADT has not been determined. Here, we comprehensively studied the contribution of common single nucleotide polymorphisms (SNPs in Wnt pathway genes to the clinical outcomes of 465 advanced prostate cancer patients treated with ADT. Two SNPs, adenomatous polyposis coli (APC rs2707765 and rs497844, were significantly (p ≤ 0.009 and q ≤ 0.043 associated with both prostate cancer progression and all-cause mortality, even after multivariate analyses and multiple testing correction. Patients with a greater number of favorable alleles had a longer time to disease progression and better overall survival during ADT (p for trend ≤ 0.003. Additional, cDNA array and in silico analyses of prostate cancer tissue suggested that rs2707765 affects APC expression, which in turn is correlated with tumor aggressiveness and patient prognosis. This study identifies the influence of inherited variants in the Wnt pathway on the efficacy of ADT and highlights a preclinical rationale for using APC as a prognostic marker in advanced prostate cancer.

  7. Type 2 diabetes-related variants influence the risk of developing multiple myeloma

    DEFF Research Database (Denmark)

    Ríos, Rafael; Lupiañez, Carmen Belén; Campa, Daniele

    2015-01-01

    Type 2 diabetes (T2D) has been suggested to be a risk factor for multiple myeloma (MM), but the relationship between the two traits is still not well understood. The aims of this study were to evaluate whether 58 genome-wide-association-studies (GWAS)-identified common variants for T2D influence...... genetic information (area under the curve (AUC)=0.645 vs AUC=0.629; P=4.05×10(-) (06)). A gender-stratified analysis also revealed a significant gender effect modification for ADAM30rs2641348 and NOTCH2rs10923931 variants (Pinteraction=0.001 and 0.0004, respectively). Men carrying the ADAM30rs2641348C...... carrying the KCNQ1rs2237892T allele or the CDKN2A-2Brs2383208G/G, IGF1rs35767T/T and MADDrs7944584T/T genotypes had a significantly increased risk of MM (odds ratio (OR)=1.32-2.13) whereas those carrying the KCNJ11rs5215C, KCNJ11rs5219T and THADArs7578597C alleles or the FTOrs8050136A/A and LTArs1041981C...

  8. Isolation of a variant Porphyromonas sp. from polymicrobial infections in central bearded dragons (Pogona vitticeps).

    Science.gov (United States)

    Bemis, David A; Greenacre, Cheryl B; Bryant, Mary Jean; Jones, Rebekah D; Kania, Stephen A

    2011-01-01

    Isolates of gram-negative anaerobic bacteria from reptiles have only occasionally been identified to the genus and species level in the veterinary medical literature. In particular, reports identifying Porphyromonas spp. from infections in reptiles are scarce. The present report describes unique Porphyromonas isolates obtained from necrosuppurative infections in central bearded dragons (Pogona vitticeps). The isolates grew in the presence of oxygen, were strongly hemolytic, and did not produce detectable black, iron porphyrin pigment. Biochemical identification kit numeric biocodes gave high but unreliable probabilities (>99.9%) for identification as Porphyromonas gingivalis. Partial 16S ribosomal RNA gene sequences of the isolates were identical to each other and shared 91% identity with those of Porphyromonas gulae. The isolates may represent a new reptile-associated Porphyromonas species.

  9. THE INFLUENCE OF GENETIC VARIANTS OF κ-CASEIN ON MILK COMPONENTS

    Directory of Open Access Journals (Sweden)

    Juraj Čuboň

    2013-10-01

    Full Text Available Milk production of 22 cows of Slovak Pied breed with Holstein-Friesian was analyzed according to the genetic variants of the polymorphic proteins determined by starch gel electrophoresis. The effect of genetic variants of the proteins was analyzed by selected properties of milk (milk yield, proteins, fats and lactose. Differences between the productive characters in testing groups were evaluated according to statistic method of t-test. Evaluation was carried out during throughout lactation. Based on the analyses we have obtained results frequency of genotypes: κ-CN AA in 9 cows (41%, AB in 12 cows (54.5% and BB in one cow, which is 4.5%. The average daily milk production of κ-CN AA was 13.5 l/day and in κ-CN AB 14.2 l/day. Contents of protein of genetic variation κ-CN AA was 3.1% in milk genotype κ-CN AB was found not significant lower protein proportion 3.0%. Based on the analyses, we can assume that cow’s nutrition higher influence the increase in the proportion of protein than polymorphism of κ-CN. In our research was found out the average fat content 4.0% in genetic variation of κ-CN AA and not significant lower in genetic variation κ-CN AB 3.8%. The average lactose content in the cow’s milk with κ-CN AA genotype was 4.9% and κ-CN AB was 5.0%. The difference between fat content wasn’t statistically significant.

  10. Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.

    Science.gov (United States)

    Pang, Shirley Yin-Yu; Hsu, Jacob Shujui; Teo, Kay-Cheong; Li, Yan; Kung, Michelle H W; Cheah, Kathryn S E; Chan, Danny; Cheung, Kenneth M C; Li, Miaoxin; Sham, Pak-Chung; Ho, Shu-Leong

    2017-10-01

    Genetic variants are implicated in the development of amyotrophic lateral sclerosis (ALS), but it is unclear whether the burden of rare variants in ALS genes has an effect on survival. We performed whole genome sequencing on 8 familial ALS (FALS) patients with superoxide dismutase 1 (SOD1) mutation and whole exome sequencing on 46 sporadic ALS (SALS) patients living in Hong Kong and found that 67% had at least 1 rare variant in the exons of 40 ALS genes; 22% had 2 or more. Patients with 2 or more rare variants had lower probability of survival than patients with 0 or 1 variant (p = 0.001). After adjusting for other factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p = 0.0098). The presence of the rare variant was associated with the risk of ALS (Odds ratio 1.91, 95% confidence interval 1.03-3.61, p = 0.03), and ALS patients had higher rare variant burden than controls (MB, p = 0.004). Our findings support an oligogenic basis with the burden of rare variants affecting the development and survival of ALS. Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.

  11. Imaging oxytocin x dopamine interactions: An epistasis effect of CD38 and COMT gene variants influences the impact of oxytocin on amygdala activation to social stimuli

    Directory of Open Access Journals (Sweden)

    Carina eSauer

    2013-04-01

    Full Text Available Although oxytocin (OT has become a major target for the investigation of positive social processes, it can be assumed that it exerts its effects in concert with other neurotransmitters. One candidate for such an interaction is dopamine (DA. For both systems, genetic variants have been identified that influence the availability of the particular substance. A variant of the gene coding for the transmembrane protein CD38 (rs3796863, which is engaged in OT secretion, has been associated with OT plasma level. The common catechol-O-methyltransferase (COMT val158met polymorphism is known to influence COMT activity and therefore the degradation of DA. The present study aimed to investigate OTxDA interactions in the context of an OT challenge study. Hence, we tested the influence of the above mentioned genetic variants and their interaction on the activation of different brain regions (amygdala, VTA, ventral striatum and fusiform gyrus during the presentation of social stimuli. In a pharmacological cross-over design 55 participants were investigated under OT and placebo (PLA by means of fMRI.Brain imaging results revealed no significant effects for VTA or ventral striatum. Regarding the fusiform gyrus, we could not find any effects apart from those already described in (Sauer et al., 2012. Analyses of amygdala activation resulted in no gene main effect, no gene x substance interaction but a significant gene x gene x substance interaction. While under PLA the effect of CD38 on bilateral amygdala activation to social stimuli was modulated by the COMT genotype, no such epistasis effect was found under OT. Our results provide evidence for an OTxDA interaction during responses to social stimuli. We postulate that the effect of central OT secretion on amygdala response is modulated by the availability of DA. Therefore, for an understanding of the effect of social hormones on social behavior, interactions of OT with other transmitter systems have to be taken

  12. Influence of population diversity on neurovirulence potential of plaque purified L-Zagreb variants.

    Science.gov (United States)

    Ivancic-Jelecki, Jelena; Forcic, Dubravko; Jagusic, Maja; Kosutic-Gulija, Tanja; Mazuran, Renata; Balija, Maja Lang; Isakov, Ofer; Shomron, Noam

    2016-04-29

    Despite continuing research efforts, determinants of mumps virus virulence are still largely unknown. One of consequences of this is difficulty in striking a balance between efficacy and safety of live attenuated mumps vaccines. Among mumps vaccine strains associated with occurrence of postvaccinal aseptic meningitis is L-Zagreb, developed by further attenuation of vaccine strain L-3. Starting from an archived L-Zagreb sample with suboptimal neuroattenuation score, we isolated different viral variants and compared their genetic and phenotypic properties, in investigation of neurovirulence markers. Six different L-Zagreb variants were isolated by plaque purification. Their neurovirulent status was determined by rat-based neurovirulence test; population structure was determined by deep sequencing. We isolated one well neuroattenuated viral variant, two marginally neuroattenuated, and three insufficiently neuroattenuated. No genetic markers of neurovirulence could be identified. None of variants had detectable amounts of defective interfering particles. Two characteristics set insufficiently neuroattenuated variants apart from less-neurovirulent ones: elevated variability level in regions 1293-3314, 5363-7773 and 9382-11657, and/or elevated number of mutations present in frequencies ≥ 1%. The most neurovirulent variants possessed both of these features. Distinctive heterogeneity profiles were obtained for insufficiently neuroattenuated L-Zagreb variants. No markers that would discriminate between marginally and well neuroattenuated variants were identified. The findings of this study may serve as a guideline during development of an improved L3/L-Zagreb vaccine strain. Copyright © 2016 Elsevier Ltd. All rights reserved.

  13. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

    Science.gov (United States)

    Ehret, Georg B; Munroe, Patricia B; Rice, Kenneth M; Bochud, Murielle; Johnson, Andrew D; Chasman, Daniel I; Smith, Albert V; Tobin, Martin D; Verwoert, Germaine C; Hwang, Shih-Jen; Pihur, Vasyl; Vollenweider, Peter; O'Reilly, Paul F; Amin, Najaf; Bragg-Gresham, Jennifer L; Teumer, Alexander; Glazer, Nicole L; Launer, Lenore; Zhao, Jing Hua; Aulchenko, Yurii; Heath, Simon; Sõber, Siim; Parsa, Afshin; Luan, Jian'an; Arora, Pankaj; Dehghan, Abbas; Zhang, Feng; Lucas, Gavin; Hicks, Andrew A; Jackson, Anne U; Peden, John F; Tanaka, Toshiko; Wild, Sarah H; Rudan, Igor; Igl, Wilmar; Milaneschi, Yuri; Parker, Alex N; Fava, Cristiano; Chambers, John C; Fox, Ervin R; Kumari, Meena; Go, Min Jin; van der Harst, Pim; Kao, Wen Hong Linda; Sjögren, Marketa; Vinay, D G; Alexander, Myriam; Tabara, Yasuharu; Shaw-Hawkins, Sue; Whincup, Peter H; Liu, Yongmei; Shi, Gang; Kuusisto, Johanna; Tayo, Bamidele; Seielstad, Mark; Sim, Xueling; Nguyen, Khanh-Dung Hoang; Lehtimäki, Terho; Matullo, Giuseppe; Wu, Ying; Gaunt, Tom R; Onland-Moret, N Charlotte; Cooper, Matthew N; Platou, Carl G P; Org, Elin; Hardy, Rebecca; Dahgam, Santosh; Palmen, Jutta; Vitart, Veronique; Braund, Peter S; Kuznetsova, Tatiana; Uiterwaal, Cuno S P M; Adeyemo, Adebowale; Palmas, Walter; Campbell, Harry; Ludwig, Barbara; Tomaszewski, Maciej; Tzoulaki, Ioanna; Palmer, Nicholette D; Aspelund, Thor; Garcia, Melissa; Chang, Yen-Pei C; O'Connell, Jeffrey R; Steinle, Nanette I; Grobbee, Diederick E; Arking, Dan E; Kardia, Sharon L; Morrison, Alanna C; Hernandez, Dena; Najjar, Samer; McArdle, Wendy L; Hadley, David; Brown, Morris J; Connell, John M; Hingorani, Aroon D; Day, Ian N M; Lawlor, Debbie A; Beilby, John P; Lawrence, Robert W; Clarke, Robert; Hopewell, Jemma C; Ongen, Halit; Dreisbach, Albert W; Li, Yali; Young, J Hunter; Bis, Joshua C; Kähönen, Mika; Viikari, Jorma; Adair, Linda S; Lee, Nanette R; Chen, Ming-Huei; Olden, Matthias; Pattaro, Cristian; Bolton, Judith A Hoffman; Köttgen, Anna; Bergmann, Sven; Mooser, Vincent; Chaturvedi, Nish; Frayling, Timothy M; Islam, Muhammad; Jafar, Tazeen H; Erdmann, Jeanette; Kulkarni, Smita R; Bornstein, Stefan R; Grässler, Jürgen; Groop, Leif; Voight, Benjamin F; Kettunen, Johannes; Howard, Philip; Taylor, Andrew; Guarrera, Simonetta; Ricceri, Fulvio; Emilsson, Valur; Plump, Andrew; Barroso, Inês; Khaw, Kay-Tee; Weder, Alan B; Hunt, Steven C; Sun, Yan V; Bergman, Richard N; Collins, Francis S; Bonnycastle, Lori L; Scott, Laura J; Stringham, Heather M; Peltonen, Leena; Perola, Markus; Vartiainen, Erkki; Brand, Stefan-Martin; Staessen, Jan A; Wang, Thomas J; Burton, Paul R; Soler Artigas, Maria; Dong, Yanbin; Snieder, Harold; Wang, Xiaoling; Zhu, Haidong; Lohman, Kurt K; Rudock, Megan E; Heckbert, Susan R; Smith, Nicholas L; Wiggins, Kerri L; Doumatey, Ayo; Shriner, Daniel; Veldre, Gudrun; Viigimaa, Margus; Kinra, Sanjay; Prabhakaran, Dorairaj; Tripathy, Vikal; Langefeld, Carl D; Rosengren, Annika; Thelle, Dag S; Corsi, Anna Maria; Singleton, Andrew; Forrester, Terrence; Hilton, Gina; McKenzie, Colin A; Salako, Tunde; Iwai, Naoharu; Kita, Yoshikuni; Ogihara, Toshio; Ohkubo, Takayoshi; Okamura, Tomonori; Ueshima, Hirotsugu; Umemura, Satoshi; Eyheramendy, Susana; Meitinger, Thomas; Wichmann, H-Erich; Cho, Yoon Shin; Kim, Hyung-Lae; Lee, Jong-Young; Scott, James; Sehmi, Joban S; Zhang, Weihua; Hedblad, Bo; Nilsson, Peter; Smith, George Davey; Wong, Andrew; Narisu, Narisu; Stančáková, Alena; Raffel, Leslie J; Yao, Jie; Kathiresan, Sekar; O'Donnell, Christopher J; Schwartz, Stephen M; Ikram, M Arfan; Longstreth, W T; Mosley, Thomas H; Seshadri, Sudha; Shrine, Nick R G; Wain, Louise V; Morken, Mario A; Swift, Amy J; Laitinen, Jaana; Prokopenko, Inga; Zitting, Paavo; Cooper, Jackie A; Humphries, Steve E; Danesh, John; Rasheed, Asif; Goel, Anuj; Hamsten, Anders; Watkins, Hugh; Bakker, Stephan J L; van Gilst, Wiek H; Janipalli, Charles S; Mani, K Radha; Yajnik, Chittaranjan S; Hofman, Albert; Mattace-Raso, Francesco U S; Oostra, Ben A; Demirkan, Ayse; Isaacs, Aaron; Rivadeneira, Fernando; Lakatta, Edward G; Orru, Marco; Scuteri, Angelo; Ala-Korpela, Mika; Kangas, Antti J; Lyytikäinen, Leo-Pekka; Soininen, Pasi; Tukiainen, Taru; Würtz, Peter; Ong, Rick Twee-Hee; Dörr, Marcus; Kroemer, Heyo K; Völker, Uwe; Völzke, Henry; Galan, Pilar; Hercberg, Serge; Lathrop, Mark; Zelenika, Diana; Deloukas, Panos; Mangino, Massimo; Spector, Tim D; Zhai, Guangju; Meschia, James F; Nalls, Michael A; Sharma, Pankaj; Terzic, Janos; Kumar, M V Kranthi; Denniff, Matthew; Zukowska-Szczechowska, Ewa; Wagenknecht, Lynne E; Fowkes, F Gerald R; Charchar, Fadi J; Schwarz, Peter E H; Hayward, Caroline; Guo, Xiuqing; Rotimi, Charles; Bots, Michiel L; Brand, Eva; Samani, Nilesh J; Polasek, Ozren; Talmud, Philippa J; Nyberg, Fredrik; Kuh, Diana; Laan, Maris; Hveem, Kristian; Palmer, Lyle J; van der Schouw, Yvonne T; Casas, Juan P; Mohlke, Karen L; Vineis, Paolo; Raitakari, Olli; Ganesh, Santhi K; Wong, Tien Y; Tai, E Shyong; Cooper, Richard S; Laakso, Markku; Rao, Dabeeru C; Harris, Tamara B; Morris, Richard W; Dominiczak, Anna F; Kivimaki, Mika; Marmot, Michael G; Miki, Tetsuro; Saleheen, Danish; Chandak, Giriraj R; Coresh, Josef; Navis, Gerjan; Salomaa, Veikko; Han, Bok-Ghee; Zhu, Xiaofeng; Kooner, Jaspal S; Melander, Olle; Ridker, Paul M; Bandinelli, Stefania; Gyllensten, Ulf B; Wright, Alan F; Wilson, James F; Ferrucci, Luigi; Farrall, Martin; Tuomilehto, Jaakko; Pramstaller, Peter P; Elosua, Roberto; Soranzo, Nicole; Sijbrands, Eric J G; Altshuler, David; Loos, Ruth J F; Shuldiner, Alan R; Gieger, Christian; Meneton, Pierre; Uitterlinden, Andre G; Wareham, Nicholas J; Gudnason, Vilmundur; Rotter, Jerome I; Rettig, Rainer; Uda, Manuela; Strachan, David P; Witteman, Jacqueline C M; Hartikainen, Anna-Liisa; Beckmann, Jacques S; Boerwinkle, Eric; Vasan, Ramachandran S; Boehnke, Michael; Larson, Martin G; Järvelin, Marjo-Riitta; Psaty, Bruce M; Abecasis, Gonçalo R; Chakravarti, Aravinda; Elliott, Paul; van Duijn, Cornelia M; Newton-Cheh, Christopher; Levy, Daniel; Caulfield, Mark J; Johnson, Toby

    2011-09-11

    Blood pressure is a heritable trait influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (≥140 mm Hg systolic blood pressure or  ≥90 mm Hg diastolic blood pressure). Even small increments in blood pressure are associated with an increased risk of cardiovascular events. This genome-wide association study of systolic and diastolic blood pressure, which used a multi-stage design in 200,000 individuals of European descent, identified sixteen novel loci: six of these loci contain genes previously known or suspected to regulate blood pressure (GUCY1A3-GUCY1B3, NPR3-C5orf23, ADM, FURIN-FES, GOSR2, GNAS-EDN3); the other ten provide new clues to blood pressure physiology. A genetic risk score based on 29 genome-wide significant variants was associated with hypertension, left ventricular wall thickness, stroke and coronary artery disease, but not kidney disease or kidney function. We also observed associations with blood pressure in East Asian, South Asian and African ancestry individuals. Our findings provide new insights into the genetics and biology of blood pressure, and suggest potential novel therapeutic pathways for cardiovascular disease prevention.

  14. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

    Science.gov (United States)

    Höglinger, Günter U; Melhem, Nadine M; Dickson, Dennis W; Sleiman, Patrick M A; Wang, Li-San; Klei, Lambertus; Rademakers, Rosa; de Silva, Rohan; Litvan, Irene; Riley, David E; van Swieten, John C; Heutink, Peter; Wszolek, Zbigniew K; Uitti, Ryan J; Vandrovcova, Jana; Hurtig, Howard I; Gross, Rachel G; Maetzler, Walter; Goldwurm, Stefano; Tolosa, Eduardo; Borroni, Barbara; Pastor, Pau; Cantwell, Laura B; Han, Mi Ryung; Dillman, Allissa; van der Brug, Marcel P; Gibbs, J Raphael; Cookson, Mark R; Hernandez, Dena G; Singleton, Andrew B; Farrer, Matthew J; Yu, Chang-En; Golbe, Lawrence I; Revesz, Tamas; Hardy, John; Lees, Andrew J; Devlin, Bernie; Hakonarson, Hakon; Müller, Ulrich; Schellenberg, Gerard D

    2011-06-19

    Progressive supranuclear palsy (PSP) is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which is Alzheimer's disease. Environmental causes of tauopathies include repetitive head trauma associated with some sports. To identify common genetic variation contributing to risk for tauopathies, we carried out a genome-wide association study of 1,114 individuals with PSP (cases) and 3,247 controls (stage 1) followed by a second stage in which we genotyped 1,051 cases and 3,560 controls for the stage 1 SNPs that yielded P ≤ 10(-3). We found significant previously unidentified signals (P < 5 × 10(-8)) associated with PSP risk at STX6, EIF2AK3 and MOBP. We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression. The genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface, for the endoplasmic reticulum unfolded protein response and for a myelin structural component.

  15. The Influence of AHI1 Variants on the Diagnosis and Treatment Outcome in Schizophrenia

    Directory of Open Access Journals (Sweden)

    Stefano Porcelli

    2015-01-01

    Full Text Available The present study aimed to explore whether four single nucleotide polymorphisms (SNPs within the AHI1 gene could be associated with schizophrenia (SCZ and whether they could predict the clinical outcomes in SCZ patients treated with antipsychotics. Four hundred twenty-six (426 in-patients with SCZ and 345 controls were genotyped for four AHI1 SNPs (rs11154801, rs7750586, rs9647635 and rs9321501. Baseline and clinical measures for SCZ patients were assessed through the Positive and Negative Syndrome Scale (PANSS. Allelic and genotypic frequencies in SCZ subjects were compared with those of controls using the χ2 statistics. The repeated-measure ANOVA was used for the assessment of treatment outcomes measured by PANSS changes. The case-control analysis did not show any difference in the genotypic distribution of the SNPs, while in the allelic analysis, a weak association was found between the rs9647635 A allele and SCZ. Furthermore, in the haplotype analysis, three haplotypes resulted in being associated with SCZ. On the other hand, two SNPs (rs7750586 and rs9647635 were associated with clinical improvement of negative symptoms in the allelic analysis, although in the genotypic analysis, only trends of association were found for the same SNPs. Our findings suggest a possible influence of AHI1 variants on SCZ susceptibility and antipsychotic response, particularly concerning negative symptomatology. Subsequent well-designed studies would be mandatory to confirm our results due to the methodological shortcomings of the present study.

  16. The Influence of AHI1 Variants on the Diagnosis and Treatment Outcome in Schizophrenia

    Science.gov (United States)

    Porcelli, Stefano; Pae, Chi-Un; Han, Changsu; Lee, Soo-Jung; Patkar, Ashwin A.; Masand, Prakash S.; Balzarro, Beatrice; Alberti, Siegfried; De Ronchi, Diana; Serretti, Alessandro

    2015-01-01

    The present study aimed to explore whether four single nucleotide polymorphisms (SNPs) within the AHI1 gene could be associated with schizophrenia (SCZ) and whether they could predict the clinical outcomes in SCZ patients treated with antipsychotics. Four hundred twenty-six (426) in-patients with SCZ and 345 controls were genotyped for four AHI1 SNPs (rs11154801, rs7750586, rs9647635 and rs9321501). Baseline and clinical measures for SCZ patients were assessed through the Positive and Negative Syndrome Scale (PANSS). Allelic and genotypic frequencies in SCZ subjects were compared with those of controls using the χ2 statistics. The repeated-measure ANOVA was used for the assessment of treatment outcomes measured by PANSS changes. The case-control analysis did not show any difference in the genotypic distribution of the SNPs, while in the allelic analysis, a weak association was found between the rs9647635 A allele and SCZ. Furthermore, in the haplotype analysis, three haplotypes resulted in being associated with SCZ. On the other hand, two SNPs (rs7750586 and rs9647635) were associated with clinical improvement of negative symptoms in the allelic analysis, although in the genotypic analysis, only trends of association were found for the same SNPs. Our findings suggest a possible influence of AHI1 variants on SCZ susceptibility and antipsychotic response, particularly concerning negative symptomatology. Subsequent well-designed studies would be mandatory to confirm our results due to the methodological shortcomings of the present study. PMID:25622261

  17. Fatty acid translocase gene CD36 rs1527483 variant influences oral fat perception in Malaysian subjects.

    Science.gov (United States)

    Ong, Hing-Huat; Tan, Yen-Nee; Say, Yee-How

    2017-01-01

    We determined whether single nucleotide polymorphisms (SNPs; rs1761667 and rs1527483) in the fatty acid translocase CD36 gene - a receptor for fatty acids - is associated with oral fat perception (OFP) of different fat contents in custards and commercially-available foods, and obesity measures in Malaysian subjects (n=313; 118 males, 293 ethnic Chinese; 20 ethnic Indians). A 170-mm visual analogue scale was used to assess the ratings of perceived fat content, oiliness and creaminess of 0%, 2%, 6% and 10% fat content-by-weight custards and low-fat/regular versions of commercially-available milk, mayonnaise and cream crackers. Overall, the subjects managed to significantly discriminate the fat content, oiliness and creaminess between low-fat/regular versions of milk and mayonnaise. Females rated the perception of fat content and oiliness of both milks higher, but ethnicity, obesity and adiposity status did not seem to play a role in influencing most of OFP. The overall minor allele frequencies for rs1761667 and rs1527483 were 0.30 and 0.26, respectively. Females and individuals with rs1527483 TT genotype significantly perceived greater creaminess of 10% fat-by-weight custard. Also, individuals with rs1527483 TT genotype and T allele significantly perceived greater fat content of cream crackers, independent of fat concentration. rs1761667 SNP did not significantly affect OFP, except for cream crackers. Both gene variants were also not associated with obesity measures. Taken together, this study supports the notion that CD36 - specifically rs1527483, plays a role in OFP, but not in influencing obesity in Malaysian subjects. Besides, gender is an important factor for OFP, where females had higher sensitivity. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. Sequence variants at the myostatin gene locus influence the body composition of Thoroughbred horses.

    Science.gov (United States)

    Tozaki, Teruaki; Sato, Fumio; Hill, Emmeline W; Miyake, Takeshi; Endo, Yoshiro; Kakoi, Hironaga; Gawahara, Hitoshi; Hirota, Kei-ichi; Nakano, Yasuko; Nambo, Yasuo; Kurosawa, Masahiko

    2011-12-01

    Myostatin is a member of the transforming growth factor-β family with a key role in inhibition of muscle growth by negative regulation of both myoblast proliferation and differentiation. Recently, a genomic region on ECA18, which includes the MSTN gene, was identified as a candidate region influencing racing performance in Thoroughbreds. In this study, four SNPs on ECA18, g.65809482T>C, g.65868604G>T, g.66493737C>T, and g.66539967A>G, were genotyped in 91 Thoroughbred horses-in-training to evaluate the association between genotype and body composition traits, including body weight, withers height, chest circumference, cannon circumference, and body weight/withers height. Of these, statistically differences in body weight and body weight/withers height were associated with specific genotypes in males. Specifically, body weight/withers height showed statistically significant differences depending on genotype at g.658604G>T, g.66493737C>T, and g.66539967A>G (PT, had the highest value (3.17 ± 0.05 kg·cm(-1)) for body weight/withers height in March, while those with a genotype associated with suitability for long-distance racing, T/T, had the lowest (2.99 ± 0.03 kg·cm(-1)). In females, the trends in the association of body weight/withers height with genotypes were similar to those observed in males. As the SNPs are not believed to be linked to coding variants in MSTN, these results suggest that regulation of MSTN gene expression influences skeletal muscle mass and hence racing performance, particularly optimum race distance, in Thoroughbred horses.

  19. Ghrelin Gene Variants Influence on Metabolic Syndrome Components in Aged Spanish Population.

    Science.gov (United States)

    Mora, Mireia; Adam, Victoria; Palomera, Elisabet; Blesa, Sebastian; Díaz, Gonzalo; Buquet, Xavier; Serra-Prat, Mateu; Martín-Escudero, Juan Carlos; Palanca, Ana; Chaves, Javier Felipe; Puig-Domingo, Manuel

    2015-01-01

    The role of genetic variations within the ghrelin gene on cardiometabolic profile and nutritional status is still not clear in humans, particularly in elderly people. We investigated six SNPs of the ghrelin gene and their relationship with metabolic syndrome (MS) components. 824 subjects (413 men/411 women, age 77.31±5.04) participating in the Mataró aging study (n = 310) and the Hortega study (n = 514) were analyzed. Anthropometric variables, ghrelin, lipids, glucose and blood pressure levels were measured, and distribution of SNPs -994CT (rs26312), -604GA (rs27647), -501AC (rs26802), R51Q (rs34911341), M72L (rs696217) and L90G (rs4684677) of the ghrelin gene evaluated. Genotypes were determined by multiplex PCR and SNaPshot minisequencing. MS (IDF criteria) was found in 54.9%. No association between any of the SNPs and levels of total fasting circulating ghrelin levels was found. C/A-A/A genotype of M72L was associated with increased risk of central obesity according to IDF criteria, while G/A-G/G genotypes of -604GA with reduced risk. A/A genotype of -501AC polymorphism was associated to decreased BMI. In relation to lipid profile, the same genotypes of -604GA were associated with increased total cholesterol and LDL-cholesterol and -501AC with reduced triglycerides. There were no associations with systolic or diastolic blood pressure levels or with hypertension, glucose levels or diabetes and ghrelin polymorphisms. However, G/G genotype of -604GA was associated with glucose >100 mg/dL. Haplotype analysis showed that only one haplotype is associated with increased risk of waist circumference and central obesity. The analysis of subjects by gender showed an important and different association of these polymorphisms regarding MS parameters. Ghrelin gene variants -604GA, -501AC and M72L are associated with certain components of MS, in particular to BMI and lipid profile in elderly Spanish subjects.

  20. Ghrelin Gene Variants Influence on Metabolic Syndrome Components in Aged Spanish Population.

    Directory of Open Access Journals (Sweden)

    Mireia Mora

    Full Text Available The role of genetic variations within the ghrelin gene on cardiometabolic profile and nutritional status is still not clear in humans, particularly in elderly people.We investigated six SNPs of the ghrelin gene and their relationship with metabolic syndrome (MS components.824 subjects (413 men/411 women, age 77.31±5.04 participating in the Mataró aging study (n = 310 and the Hortega study (n = 514 were analyzed. Anthropometric variables, ghrelin, lipids, glucose and blood pressure levels were measured, and distribution of SNPs -994CT (rs26312, -604GA (rs27647, -501AC (rs26802, R51Q (rs34911341, M72L (rs696217 and L90G (rs4684677 of the ghrelin gene evaluated. Genotypes were determined by multiplex PCR and SNaPshot minisequencing. MS (IDF criteria was found in 54.9%.No association between any of the SNPs and levels of total fasting circulating ghrelin levels was found. C/A-A/A genotype of M72L was associated with increased risk of central obesity according to IDF criteria, while G/A-G/G genotypes of -604GA with reduced risk. A/A genotype of -501AC polymorphism was associated to decreased BMI. In relation to lipid profile, the same genotypes of -604GA were associated with increased total cholesterol and LDL-cholesterol and -501AC with reduced triglycerides. There were no associations with systolic or diastolic blood pressure levels or with hypertension, glucose levels or diabetes and ghrelin polymorphisms. However, G/G genotype of -604GA was associated with glucose >100 mg/dL. Haplotype analysis showed that only one haplotype is associated with increased risk of waist circumference and central obesity. The analysis of subjects by gender showed an important and different association of these polymorphisms regarding MS parameters.Ghrelin gene variants -604GA, -501AC and M72L are associated with certain components of MS, in particular to BMI and lipid profile in elderly Spanish subjects.

  1. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes

    DEFF Research Database (Denmark)

    Steinthorsdottir, Valgerdur; Thorleifsson, Gudmar; Reynisdottir, Inga

    2007-01-01

    We conducted a genome-wide association study for type 2 diabetes (T2D) in Icelandic cases and controls, and we found that a previously described variant in the transcription factor 7-like 2 gene (TCF7L2) gene conferred the most significant risk. In addition to confirming two recently identified...... risk variants, we identified a variant in the CDKAL1 gene that was associated with T2D in individuals of European ancestry (allele-specific odds ratio (OR) = 1.20 (95% confidence interval, 1.13-1.27), P = 7.7 x 10(-9)) and individuals from Hong Kong of Han Chinese ancestry (OR = 1.25 (1.11-1.40), P = 0...... was approximately 20% lower than for heterozygotes or noncarriers, suggesting that this variant confers risk of T2D through reduced insulin secretion....

  2. Whole-exome sequencing reveals genetic variants associated with chronic kidney disease characterized by tubulointerstitial damages in North Central Region, Sri Lanka.

    Science.gov (United States)

    Nanayakkara, Shanika; Senevirathna, S T M L D; Parahitiyawa, Nipuna B; Abeysekera, Tilak; Chandrajith, Rohana; Ratnatunga, Neelakanthi; Hitomi, Toshiaki; Kobayashi, Hatasu; Harada, Kouji H; Koizumi, Akio

    2015-09-01

    The familial clustering observed in chronic kidney disease of uncertain etiology (CKDu) characterized by tubulointerstitial damages in the North Central Region of Sri Lanka strongly suggests the involvement of genetic factors in its pathogenesis. The objective of the present study is to use whole-exome sequencing to identify the genetic variants associated with CKDu. Whole-exome sequencing of eight CKDu cases and eight controls was performed, followed by direct sequencing of candidate loci in 301 CKDu cases and 276 controls. Association study revealed rs34970857 (c.658G > A/p.V220M) located in the KCNA10 gene encoding a voltage-gated K channel as the most promising SNP with the highest odds ratio of 1.74. Four rare variants were identified in gene encoding Laminin beta2 (LAMB2) which is known to cause congenital nephrotic syndrome. Three out of four variants in LAMB2 were novel variants found exclusively in cases. Genetic investigations provide strong evidence on the presence of genetic susceptibility for CKDu. Possibility of presence of several rare variants associated with CKDu in this population is also suggested.

  3. A genome-wide association study reveals variants in ARL15 that influence adiponectin levels.

    Directory of Open Access Journals (Sweden)

    J Brent Richards

    2009-12-01

    Full Text Available The adipocyte-derived protein adiponectin is highly heritable and inversely associated with risk of type 2 diabetes mellitus (T2D and coronary heart disease (CHD. We meta-analyzed 3 genome-wide association studies for circulating adiponectin levels (n = 8,531 and sought validation of the lead single nucleotide polymorphisms (SNPs in 5 additional cohorts (n = 6,202. Five SNPs were genome-wide significant in their relationship with adiponectin (P< or =5x10(-8. We then tested whether these 5 SNPs were associated with risk of T2D and CHD using a Bonferroni-corrected threshold of P< or =0.011 to declare statistical significance for these disease associations. SNPs at the adiponectin-encoding ADIPOQ locus demonstrated the strongest associations with adiponectin levels (P-combined = 9.2x10(-19 for lead SNP, rs266717, n = 14,733. A novel variant in the ARL15 (ADP-ribosylation factor-like 15 gene was associated with lower circulating levels of adiponectin (rs4311394-G, P-combined = 2.9x10(-8, n = 14,733. This same risk allele at ARL15 was also associated with a higher risk of CHD (odds ratio [OR] = 1.12, P = 8.5x10(-6, n = 22,421 more nominally, an increased risk of T2D (OR = 1.11, P = 3.2x10(-3, n = 10,128, and several metabolic traits. Expression studies in humans indicated that ARL15 is well-expressed in skeletal muscle. These findings identify a novel protein, ARL15, which influences circulating adiponectin levels and may impact upon CHD risk.

  4. Modeling Social Influence via Combined Centralized and Distributed Planning Control

    Science.gov (United States)

    Vaccaro, James; Guest, Clark

    2010-01-01

    Real world events are driven by a mixture of both centralized and distributed control of individual agents based on their situational context and internal make up. For example, some people have partial allegiances to multiple, contradictory authorities, as well as to their own goals and principles. This can create a cognitive dissonance that can be exploited by an appropriately directed psychological influence operation (PSYOP). An Autonomous Dynamic Planning and Execution (ADP&E) approach is proposed for modeling both the unperturbed context as well as its reaction to various PSYOP interventions. As an illustrative example, the unrest surrounding the Iranian elections in the summer of 2009 is described in terms applicable to an ADP&E modeling approach. Aspects of the ADP&E modeling process are discussed to illustrate its application and advantages for this example.

  5. Cocirculation of Two env Molecular Variants, of Possible Recombinant Origin, in Gorilla and Chimpanzee Simian Foamy Virus Strains from Central Africa.

    Science.gov (United States)

    Richard, Léa; Rua, Réjane; Betsem, Edouard; Mouinga-Ondémé, Augustin; Kazanji, Mirdad; Leroy, Eric; Njouom, Richard; Buseyne, Florence; Afonso, Philippe V; Gessain, Antoine

    2015-12-01

    Simian foamy virus (SFV) is a ubiquitous retrovirus in nonhuman primates (NHPs) that can be transmitted to humans, mostly through severe bites. In the past few years, our laboratory has identified more than 50 hunters from central Africa infected with zoonotic SFVs. Analysis of the complete sequences of five SFVs obtained from these individuals revealed that env was the most variable gene. Furthermore, recombinant SFV strains, some of which involve sequences in the env gene, were recently identified. Here, we investigated the variability of the env genes of zoonotic SFV strains and searched for possible recombinants. We sequenced the complete env gene or its surface glycoprotein region (SU) from DNA amplified from the blood of (i) a series of 40 individuals from Cameroon or Gabon infected with a gorilla or chimpanzee foamy virus (FV) strain and (ii) 1 gorilla and 3 infected chimpanzees living in the same areas as these hunters. Phylogenetic analyses revealed the existence of two env variants among both the gorilla and chimpanzee FV strains that were present in zoonotic and NHP strains. These variants differ greatly (>30% variability) in a 753-bp-long region located in the receptor-binding domain of SU, whereas the rest of the gene is very conserved. Although the organizations of the Env protein sequences are similar, the potential glycosylation patterns differ between variants. Analysis of recombination suggests that the variants emerged through recombination between different strains, although all parental strains could not be identified. SFV infection in humans is a great example of a zoonotic retroviral infection that has not spread among human populations, in contrast to human immunodeficiency viruses (HIVs) and human T-lymphotropic viruses (HTLVs). Recombination was a major mechanism leading to the emergence of HIV. Here, we show that two SFV molecular envelope gene variants circulate among ape populations in Central Africa and that both can be transmitted to

  6. Implications of central obesity-related variants in LYPLAL1, NRXN3, MSRA, and TFAP2B on quantitative metabolic traits in adult Danes

    DEFF Research Database (Denmark)

    Bille, Dorthe S; Banasik, Karina; Justesen, Johanne M

    2011-01-01

    Background Two meta-analyses of genome-wide association studies (GWAS) have suggested that four variants: rs2605100 in lysophospholipase-like 1 (LYPLAL1), rs10146997 in neuroxin 3 (NRXN3), rs545854 in methionine sulfoxide reductase A (MSRA), and rs987237 in transcription factor activating enhancer...... diabetes, and central and general overweight and obesity. Methodology/Principal Findings The four variants were genotyped in Danish individuals using KASPar®. Quantitative metabolic traits were examined in a population-based sample (n = 6,038) and WC and BMI were furthermore analyzed in a combined study...... sample (n = 13,507). Case-control studies of diabetes and adiposity included 15,326 individuals. The major G-allele of LYPLAL1 rs2605100 associated with increased fasting serum triglyceride concentrations (per allele effect (ß) = 3%(1;5(95%CI)), padditive = 2.7×10-3), an association driven by the male...

  7. The variants of an LOD of a 3D building model and their influence on spatial analyses

    Science.gov (United States)

    Biljecki, Filip; Ledoux, Hugo; Stoter, Jantien; Vosselman, George

    2016-06-01

    The level of detail (LOD) of a 3D city model indicates the model's grade and usability. However, there exist multiple valid variants of each LOD. As a consequence, the LOD concept is inconclusive as an instruction for the acquisition of 3D city models. For instance, the top surface of an LOD1 block model may be modelled at the eaves of a building or at its ridge height. Such variants, which we term geometric references, are often overlooked and are usually not documented in the metadata. Furthermore, the influence of a particular geometric reference on the performance of a spatial analysis is not known. In response to this research gap, we investigate a variety of LOD1 and LOD2 geometric references that are commonly employed, and perform numerical experiments to investigate their relative difference when used as input for different spatial analyses. We consider three use cases (estimation of the area of the building envelope, building volume, and shadows cast by buildings), and compute the deviations in a Monte Carlo simulation. The experiments, carried out with procedurally generated models, indicate that two 3D models representing the same building at the same LOD, but modelled according to different geometric references, may yield substantially different results when used in a spatial analysis. The outcome of our experiments also suggests that the geometric reference may have a bigger influence than the LOD, since an LOD1 with a specific geometric reference may yield a more accurate result than when using LOD2 models.

  8. Discovery of coding genetic variants influencing diabetes-related serum biomarkers and their impact on risk of type 2 diabetes

    DEFF Research Database (Denmark)

    Ahluwalia, Tarun Veer Singh; Allin, Kristine Højgaard; Sandholt, Camilla Helene

    2015-01-01

    CONTEXT: Type 2 diabetes (T2D) prevalence is spiraling globally, and knowledge of its pathophysiological signatures is crucial for a better understanding and treatment of the disease. OBJECTIVE: We aimed to discover underlying coding genetic variants influencing fasting serum levels of nine......-nucleotide polymorphisms and were tested for association with each biomarker. Identified loci were tested for association with T2D through a large-scale meta-analysis involving up to 17 024 T2D cases and up to 64 186 controls. RESULTS: We discovered 11 associations between single-nucleotide polymorphisms and five distinct......, of which the association with the CELSR2 locus has not been shown previously. CONCLUSION: The identified loci influence processes related to insulin signaling, cell communication, immune function, apoptosis, DNA repair, and oxidative stress, all of which could provide a rationale for novel diabetes...

  9. The influence of VKORC1 and CYP2C9 gene sequence variants on the stability of maintenance phase warfarin treatment

    DEFF Research Database (Denmark)

    Skov, Jane; Bladbjerg, Else-Marie; Leppin, Anja

    2013-01-01

    alleles require lower doses and have increased risk of overanticoagulation. METHODS: We investigated the influence of the above sequence variants on stability of maintenance phase warfarin therapy in a prospective study of 300 consecutive patients followed for one year at an anticoagulant clinic. RESULTS...... of common gene sequence variants in CYP2C9 and VKORC1 on stability of maintenance phase warfarin therapy. Patients attending an anticoagulant clinic using computer-assisted dosage were safely monitored regardless of these sequence variants, but for the small subgroup of patients with the CYP2C9 genotype *2...

  10. Prevalence of hepatitis B virus subgenotypes and basal core promoter, precore variants in patients with acute hepatitis B in central Vietnam.

    Science.gov (United States)

    Hayashi, Kazuhiko; Katano, Yoshiaki; Chuong, Tran Xuan; Takeda, Yasushi; Ishigami, Masatoshi; Itoh, Akihiro; Hirooka, Yoshiki; Nakano, Isao; Huy, Tran Van; Minh, Nguyen Ngoc; Diem, Tran thi Minh; An, Dong thi Hoai; Phiet, Pham Hoang; Goto, Hidemi

    2009-01-01

    Hepatitis B virus (HBV) has been classified into 8 genotypes that have different geographic distributions. The clinical outcomes of acute hepatitis are dependent on genotype. The aim of this study was to investigate the distribution of HBV subgenotypes and basal core promoter (BCP)/precore (PC) regions in acute hepatitis patients in Central Vietnam to clarify the distributions and the clinical and virological differences. 27 patients with acute hepatitis B were studied. HBV subgenotypes and BCP/PC variants were determined by direct sequencing of the preS, BCP/PC regions, respectively. HBV subgenotypes B4/Ba (n = 22) and C1/Cs (n = 5) were detected. Of the 27 patients, 3 developed fulminant hepatic failure, and all were infected with B4/Ba. Three patients had a BCP mutation, and 10 patients had a PC mutation in subgenotype B4/Ba. Three patients with C1/Cs had a BCP mutation. Two of 3 patients who progressed to fulminant hepatic failure had T1762, A1764, and A1896 simultaneously. None of the patients with acute, self-limited hepatitis carried these triple mutations. The prevalent HBV subgenotypes in patients with acute hepatitis B in Central Vietnam were B4/Ba and C1/Cs. BCP/PC variants have an association with the development of fulminant hepatic failure in subgenotype B4/Ba. Copyright 2009 S. Karger AG, Basel.

  11. Association of MEP1A gene variants with insulin metabolism in central European women with polycystic ovary syndrome.

    Science.gov (United States)

    Lam, Uyen D P; Lerchbaum, Elisabeth; Schweighofer, Natascha; Trummer, Olivia; Eberhard, Katharina; Genser, Bernd; Pieber, Thomas R; Obermayer-Pietsch, Barbara

    2014-03-10

    Polycystic ovary syndrome (PCOS) shows not only hyperandrogenemia, hirsutism and fertility problems, but also metabolic disturbances including obesity, cardiovascular events and type-2 diabetes. Accumulating evidence suggests some degree of inflammation associated with prominent aspects of PCOS. We aimed to investigate the association of genetic variants 3'UTR rs17468190 (G/T) of the inflammation-associated gene MEP1A (GenBank ID: NM_005588.2) with metabolic disturbances in PCOS and healthy control women. Genetic variants rs17468190 (G/T) of MEP1A gene were analyzed in 576 PCOS women and 206 controls by using the Taqman fluorogenic 5'-exonuclease assay. This polymorphism was tested for association with anthropometric, metabolic, hormonal, and functional parameters of PCOS. There was a borderline significant difference in genotype distribution between PCOS and control women (p=0.046). In overweight/obese PCOS patients, the variants rs17468190 (G/T) in the MEP1A gene are associated with glucose and insulin metabolism. In a dominant model, the GG genotype of the MEP1A gene was more strongly associated with insulin metabolism in overweight/obese PCOS women (body mass index, BMI>25 kg/m(2)), than in GT+TT genotypes. The MEP1A GG-carriers showed a significantly increased homeostatic model assessment - insulin resistance (HOMA-IR) (p=0.003), elevation of fasting insulin (p=0.004) and stimulated insulin (30 min, pdisease modification in PCOS. It might contribute to the abnormalities of glucose metabolism and insulin sensitivity and serve as a diagnostic or therapeutic target gene for PCOS. Copyright © 2014 Elsevier B.V. All rights reserved.

  12. Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk

    NARCIS (Netherlands)

    Walsh, Kyle M.; Codd, Veryan; Smirnov, Ivan V.; Rice, Terri; Decker, Paul A.; Hansen, Helen M.; Kollmeyer, Thomas; Kosel, Matthew L.; Molinaro, Annette M.; McCoy, Lucie S.; Bracci, Paige M.; Cabriga, Belinda S.; Pekmezci, Melike; Zheng, Shichun; Wiemels, Joseph L.; Pico, Alexander R.; Tihan, Tarik; Berger, Mitchell S.; Chang, Susan M.; Prados, Michael D.; Lachance, Daniel H.; O'Neill, Brain Patrick; Sicotte, Hugues; Eckel-Passow, Jeanette E.; van der Harst, Pim; Wiencke, John K.; Samani, Nilesh J.; Jenkins, Robert B.; Wrensch, Margaret R.

    Glioma, the most common central nervous system cancer in adults, has poor prognosis. Here we identify a new SNP associated with glioma risk, rs1920116 (near TERC), that reached genome-wide significance (P-combined = 8.3 x 10(-9)) in a meta-analysis of genome-wide association studies (GWAS) of

  13. Communication for Influence : Building ICTD Networks in Central ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    This project seeks to help achieve universal affordable access to broadband information and communication technology (ICT) infrastructure in a number of countries on the East and West coasts of Africa. It will do so by building regional ICT for development (ICTD) research and advocacy networks in Central, East and West ...

  14. Exome-Wide Association Study Identifies New Low-Frequency and Rare UGT1A1 Coding Variants and UGT1A6 Coding Variants Influencing Serum Bilirubin in Elderly Subjects

    Science.gov (United States)

    Oussalah, Abderrahim; Bosco, Paolo; Anello, Guido; Spada, Rosario; Guéant-Rodriguez, Rosa-Maria; Chery, Céline; Rouyer, Pierre; Josse, Thomas; Romano, Antonino; Elia, Maurizzio; Bronowicki, Jean-Pierre; Guéant, Jean-Louis

    2015-01-01

    Abstract Genome-wide association studies (GWASs) have identified loci contributing to total serum bilirubin level. However, no exome-wide approaches have been performed to address this question. Using exome-wide approach, we assessed the influence of protein-coding variants on unconjugated, conjugated, and total serum bilirubin levels in a well-characterized cohort of 773 ambulatory elderly subjects from Italy. Coding variants were replicated in 227 elderly subjects from the same area. We identified 4 missense rare (minor allele frequency, MAF bilirubin level (P = 2.34 × 10−34, P = 7.02 × 10−34, and P = 8.27 × 10−34), as well as unconjugated, and conjugated bilirubin levels. We also identified UGT1A6 variants in association with total (rs6759892, p.Ser7Ala, P = 1.98 × 10−26; rs2070959, p.Thr181Ala, P = 2.87 × 10−27; and rs1105879, p.Arg184Ser, P = 3.27 × 10−29), unconjugated, and conjugated bilirubin levels. All UGT1A1 intronic variants (rs887829, rs6742078, and rs4148325) and UGT1A6 coding variants (rs6759892, rs2070959, and rs1105879) were significantly associated with gallstone-related cholecystectomy risk. The UGT1A6 variant rs2070959 (p.Thr181Ala) was associated with the highest risk of gallstone–related cholecystectomy (OR, 4.58; 95% CI, 1.58–13.28; P = 3.21 × 10−3). Using an exome-wide approach we identified coding variants on UGT1A1 and UGT1A6 genes in association with serum bilirubin level and hyperbilirubinemia risk in elderly subjects. UGT1A1 intronic single-nucleotide polymorphisms (SNPs) (rs6742078, rs887829, rs4148324) serve as proxy markers for the low-frequency and rare UGT1A1 variants, thereby providing mechanistic explanation to the relationship between UGT1A1 intronic SNPs and the UGT1A1 enzyme activity. UGT1A1 and UGT1A6 variants might be potentially associated with gallstone-related cholecystectomy risk. PMID:26039129

  15. Genome wide association identifies common variants at the SERPINA6/SERPINA1 locus influencing plasma cortisol and corticosteroid binding globulin.

    Directory of Open Access Journals (Sweden)

    Jennifer L Bolton

    2014-07-01

    Full Text Available Variation in plasma levels of cortisol, an essential hormone in the stress response, is associated in population-based studies with cardio-metabolic, inflammatory and neuro-cognitive traits and diseases. Heritability of plasma cortisol is estimated at 30-60% but no common genetic contribution has been identified. The CORtisol NETwork (CORNET consortium undertook genome wide association meta-analysis for plasma cortisol in 12,597 Caucasian participants, replicated in 2,795 participants. The results indicate that <1% of variance in plasma cortisol is accounted for by genetic variation in a single region of chromosome 14. This locus spans SERPINA6, encoding corticosteroid binding globulin (CBG, the major cortisol-binding protein in plasma, and SERPINA1, encoding α1-antitrypsin (which inhibits cleavage of the reactive centre loop that releases cortisol from CBG. Three partially independent signals were identified within the region, represented by common SNPs; detailed biochemical investigation in a nested sub-cohort showed all these SNPs were associated with variation in total cortisol binding activity in plasma, but some variants influenced total CBG concentrations while the top hit (rs12589136 influenced the immunoreactivity of the reactive centre loop of CBG. Exome chip and 1000 Genomes imputation analysis of this locus in the CROATIA-Korcula cohort identified missense mutations in SERPINA6 and SERPINA1 that did not account for the effects of common variants. These findings reveal a novel common genetic source of variation in binding of cortisol by CBG, and reinforce the key role of CBG in determining plasma cortisol levels. In turn this genetic variation may contribute to cortisol-associated degenerative diseases.

  16. Central carbon metabolism influences cellulase production in Bacillus licheniformis.

    Science.gov (United States)

    Wang, J; Liu, S; Li, Y; Wang, H; Xiao, S; Li, C; Liu, B

    2018-01-01

    Bacillus licheniformis that can produce cellulase including endo glucanase and glucosidase is an important industrial microbe for cellulose degradation. The purpose of this research was to assess the effect of endo glucanase gene bglC and glucosidase gene bglH on the central metabolic flux in B. licheniformis. bglC and bglH were knocked out using homologous recombination method, respectively, and the corresponding knockout strains were obtained for 13 C metabolic flux analysis. A significant change was observed in metabolic fluxes after 13 C metabolic flux ratio analysis. In both of the knockout strains, the increased fluxes of the pentose phosphate pathway and malic enzyme reaction enabled an elevated supply of NADPH which provided enough reducing power for the in vivo synthesis reactions. The fluxes through tricarboxylic acid cycle and anaplerotic reactions increased fast in the two knockout strains, which meant more energy generated. The changed fluxes in central carbon metabolism provided a holistic view of the physiological status in B. licheniformis and possible targets for further strain engineering. Cellulase is very important in the field of agriculture and bioenergy because of its degrading effect on cellulosic biomass. This study presented the effect of central carbon metabolism on cellulase production in Bacillus licheniformis. The study also provided a holistic view of the physiological status in B. licheniformis. The shifted metabolism provided a quantitative evaluation of the biosynthesis of cellulase and a priority ranked target list for further strain engineering. © 2017 The Society for Applied Microbiology.

  17. Outbreak of variant pseudorabies virus in Bartha-K61-vaccinated piglets in central Shandong Province, China.

    Science.gov (United States)

    Hu, Dongfang; Zhang, Zhendong; Lv, Lin; Xiao, Yihong; Qu, Yajin; Ma, Haiying; Niu, Yujuan; Wang, Guangwen; Liu, Sidang

    2015-09-01

    An epidemic that mainly endangered 3-7-day-old piglets struck many farms in Shandong Province, China in 2013 and caused heavy losses. To identify the pathogenesis, the type of lesions, and the causative agent, systemic examinations were performed. Autopsy showed multiple lesions, including necrotic foci of the spleen and liver, punctate hemorrhage of the renal cortex, and interstitial pneumonia. Histological examinations showed typical nonsuppurative encephalitis, necrotic lymphocytes, and reticuloendothelial cells in lymphatic tissues, as well as eosinophilic inclusion bodies in the nuclei of reticuloendothelial cells, necrotic foci in liver cells, and hemorrhagic glomeruli. The average seroprevalence rate of field pseudorabies virus (PRV; Suid herpesvirus 1) of a representative farm tested by enzyme-linked immunosorbent assay was 46%, indicating that the PRV infectious pressure was quite severe especially among gilts, young multiparous sows, boars, and growing-finishing pigs. The glycoprotein E (gE) gene of PRV was detected in 8 of 10 clinical samples, and the virus in the positive samples induced obvious cytopathic effects. An immunoperoxidase monolayer assay showed that PRV antigens were distributed both in the nucleoli and cytoplasm of infected cells. Sequencing and phylogenetic analysis of the gE gene showed that the strain isolated herein, TaiAn SD 2013, was highly similar to previously isolated strains, especially those isolated in northern China in 2013, and was closely related to other isolates from Asia. Evidence confirmed that the variant PRV was the etiologic agent of this epidemic, suggesting that the Bartha-K61 vaccine does not provide complete protection against PRV infection. Further challenge tests are ongoing to investigate the virulence of variant PRV. © 2015 The Author(s).

  18. Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility

    Science.gov (United States)

    Mbarek, Hamdi; Steinberg, Stacy; Nyholt, Dale R.; Gordon, Scott D.; Miller, Michael B.; McRae, Allan F.; Hottenga, Jouke Jan; Day, Felix R.; Willemsen, Gonneke; de Geus, Eco J.; Davies, Gareth E.; Martin, Hilary C.; Penninx, Brenda W.; Jansen, Rick; McAloney, Kerrie; Vink, Jacqueline M.; Kaprio, Jaakko; Plomin, Robert; Spector, Tim D.; Magnusson, Patrik K.; Reversade, Bruno; Harris, R. Alan; Aagaard, Kjersti; Kristjansson, Ragnar P.; Olafsson, Isleifur; Eyjolfsson, Gudmundur Ingi; Sigurdardottir, Olof; Iacono, William G.; Lambalk, Cornelis B.; Montgomery, Grant W.; McGue, Matt; Ong, Ken K.; Perry, John R.B.; Martin, Nicholas G.; Stefánsson, Hreinn; Stefánsson, Kari; Boomsma, Dorret I.

    2016-01-01

    Spontaneous dizygotic (DZ) twinning occurs in 1%–4% of women, with familial clustering and unknown physiological pathways and genetic origin. DZ twinning might index increased fertility and has distinct health implications for mother and child. We performed a GWAS in 1,980 mothers of spontaneous DZ twins and 12,953 control subjects. Findings were replicated in a large Icelandic cohort and tested for association across a broad range of fertility traits in women. Two SNPs were identified (rs11031006 near FSHB, p = 1.54 × 10−9, and rs17293443 in SMAD3, p = 1.57 × 10−8) and replicated (p = 3 × 10−3 and p = 1.44 × 10−4, respectively). Based on ∼90,000 births in Iceland, the risk of a mother delivering twins increased by 18% for each copy of allele rs11031006-G and 9% for rs17293443-C. A higher polygenic risk score (PRS) for DZ twinning, calculated based on the results of the DZ twinning GWAS, was significantly associated with DZ twinning in Iceland (p = 0.001). A higher PRS was also associated with having children (p = 0.01), greater lifetime parity (p = 0.03), and earlier age at first child (p = 0.02). Allele rs11031006-G was associated with higher serum FSH levels, earlier age at menarche, earlier age at first child, higher lifetime parity, lower PCOS risk, and earlier age at menopause. Conversely, rs17293443-C was associated with later age at last child. We identified robust genetic risk variants for DZ twinning: one near FSHB and a second within SMAD3, the product of which plays an important role in gonadal responsiveness to FSH. These loci contribute to crucial aspects of reproductive capacity and health. PMID:27132594

  19. BSG and MCT1 Genetic Variants Influence Survival in Multiple Myeloma Patients

    Directory of Open Access Journals (Sweden)

    Piotr Łacina

    2018-04-01

    Full Text Available Multiple myeloma (MM is a haematologic malignancy characterized by the presence of atypical plasma cells. Basigin (BSG, CD147 controls lactate export through the monocarboxylic acid transporter 1 (MCT1, SLC16A1 and supports MM survival and proliferation. Additionally, BSG is implicated in response to treatment with immunomodulatory drugs (thalidomide and its derivatives. We investigated the role of single nucleotide polymorphisms (SNPs in the gene coding for BSG and SLC16A1 in MM. Following an in silico analysis, eight SNPs (four in BSG and four in SLC16A1 predicted to have a functional effect were selected and analyzed in 135 MM patients and 135 healthy individuals. Alleles rs4919859 C, rs8637 G, and haplotype CG were associated with worse progression-free survival (p = 0.006, p = 0.017, p = 0.002, respectively, while rs7556664 A, rs7169 T and rs1049434 A (all in linkage disequilibrium (LD, r2 > 0.98 were associated with better overall survival (p = 0.021. Similar relationships were observed in thalidomide-treated patients. Moreover, rs4919859 C, rs8637 G, rs8259 A and the CG haplotype were more common in patients in stages II–III of the International Staging System (p < 0.05, while rs8259 A correlated with higher levels of β-2-microglobulin and creatinine (p < 0.05. Taken together, our results show that BSG and SLC16A1 variants affect survival, and may play an important role in MM.

  20. Variants in TERT influencing telomere length are associated with paranoid schizophrenia risk.

    Science.gov (United States)

    Rao, Shuquan; Ye, Ning; Hu, Huiling; Shen, Yan; Xu, Qi

    2016-04-01

    Schizophrenia is one of the most severe psychiatric disorders, with a high heritability of up to 80%. Several studies have reported telomere dysfunction in schizophrenia, and common variants in the telomerase reverse transcriptase (TERT) gene. TERT is a key component of the telomerase complex that maintains telomere length by addition of telomere repeats to telomere ends, and has repeatedly shown association with mean lymphocyte telomere length (LTL). Thus, we hypothesized that TERT may be a novel susceptibility gene for schizophrenia. Using a Taqman protocol, we genotyped eight tag SNPs from the TERT locus in 1,072 patients with paranoid schizophrenia and 1,284 control subjects from a Chinese Han population. We also measured mean LTL in 98 cases and 109 controls using a quantitative PCR-based technique. Chi-square tests showed that two SNPs, rs2075786 (P = 0.0009, OR = 0.76, 95%CI = 0.65-0.90) and rs4975605 (P = 0.0026, OR = 0.73, 95%CI = 0.60-0.90), were associated with a protective effect, while rs10069690 was associated with risk of paranoid schizophrenia (P = 0.0044, OR = 1.23, 95%CI = 1.07-1.42). Additionally, the rs2736118-rs2075786 haplotype showed significant association with paranoid schizophrenia (P = 0.0013). Moreover, mean LTL correlated with rs2075786 genotypes was significantly shorter in the patient group than the control group. The present results suggest that the TERT gene may be a novel candidate involved in the development of paranoid schizophrenia. © 2016 Wiley Periodicals, Inc.

  1. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

    NARCIS (Netherlands)

    G.B. Ehret (Georg); P. Munroe (Patricia); K.M. Rice (Kenneth); M. Bochud (Murielle); A.D. Johnson (Andrew); D.I. Chasman (Daniel); A.V. Smith (Albert Vernon); M.D. Tobin (Martin); G.C. Verwoert (Germaine); S.J. Hwang; V. Pihur (Vasyl); P. Vollenweider (Peter); P.F. O'Reilly (Paul); N. Amin (Najaf); J.L. Bragg-Gresham (Jennifer L.); A. Teumer (Alexander); N.L. Glazer (Nicole); L.J. Launer (Lenore); J.H. Zhao (Jing Hua); Y.S. Aulchenko (Yurii); S.C. Heath (Simon); S. Sõber (Siim); A. Parsa (Afshin); J. Luan; P. Arora (Pankaj); A. Dehghan (Abbas); F. Zhang (Feng); G. Lucas (Gavin); A.A. Hicks (Andrew); A.U. Jackson (Anne); J. Peden (John); T. Tanaka (Toshiko); S.H. Wild (Sarah); I. Rudan (Igor); W. Igl (Wilmar); Y. Milaneschi (Yuri); A.N. Parker (Alex); C. Fava (Cristiano); J.C. Chambers (John); E.R. Fox (Ervin); M. Kumari (Meena); M. Jin Go (Min); P. van der Harst (Pim); W. Hong Linda Kao (Wen); M. Sjögren (Marketa); D.G. Vinay; M. Alexander (Myriam); Y. Tabara (Yasuharu); S. Shaw-Hawkins (Sue); P.H. Whincup (Peter); Y. Liu (YongMei); G. Shi (Gang); J. Kuusisto (Johanna); B. Tayo (Bamidele); M. Seielstad (Mark); X. Sim (Xueling); K.-D. Hoang Nguyen; T. Lehtimäki (Terho); G. Matullo (Giuseppe); Y. Wu (Ying); T.R. Gaunt (Tom); N. Charlotte Onland-Moret; M.N. Cooper (Matthew); C. Platou (Carl); E. Org (Elin); R. Hardy (Rebecca); S. Dahgam (Santosh); J. Palmen (Jutta); V. Vitart (Veronique); P.S. Braund (Peter); T. Kuznetsova (Tatiana); C.S.P.M. Uiterwaal (Cuno); A. Adeyemo (Adebowale); W. Palmas (Walter); H. Campbell (Harry); B. Ludwig (Barbara); M. Tomaszewski; I. Tzoulaki; N.D. Palmer (Nicholette); T. Aspelund (Thor); M. Garcia (Melissa); Y.-P.C. Chang (Yen-Pei); J.R. O´Connell; N.I. Steinle (Nanette); D.E. Grobbee (Diederick); D.E. Arking (Dan); S.L. Kardia (Sharon); A.C. Morrison (Alanna); D.G. Hernandez (Dena); S.S. Najjar (Samer); W.L. McArdle (Wendy); D. Hadley (David); M.J. Brown (Morris); J. Connell (John); A. Hingorani (Aroon); I.N.M. Day (Ian); D.A. Lawlor (Debbie); J.P. Beilby (John); R.W. Lawrence (Robert); R. Clarke; J. Hopewell; H. Ongen (Halit); A.W. Dreisbach (Albert); Y. Li (Yali); J. Hunter Young; J.C. Bis (Joshua); M. Kähönen (Mika); J. Viikari (Jorma); N.R. Lee (Nanette); M-H. Chen (Ming-Huei); M. Olden (Matthias); C. Pattaro (Cristian); J.A. Hoffman Bolton (Judith); A. Köttgen (Anna); S.M. Bergmann (Sven); V. Mooser (Vincent); N. Chaturvedi (Nish); T.M. Frayling (Timothy); M. Islam (Muhammad); T.H. Jafar (Tazeen); S.R. Kulkarni (Smita); S.R. Bornstein (Stefan); J. Gräßler (Jürgen); L. Groop (Leif); B.F. Voight (Benjamin); J. Kettunen (Johannes); P. Howard (Philip); A. Taylor (Andrew); S. Guarrera (Simonetta); F. Ricceri (Fulvio); V. Emilsson (Valur); A.S. Plump (Andrew); K-T. Khaw (Kay-Tee); A.B. Weder (Alan); S.C. Hunt (Steven); Y.V. Sun (Yan); R.N. Bergman (Richard); F.S. Collins (Francis); L.L. Bonnycastle (Lori); L.J. Scott (Laura); H.M. Stringham (Heather); L. Peltonen (Leena Johanna); M. Perola (Markus); E. Vartiainen (Erkki); S.-M. Brand; J.A. Staessen (Jan); Y.A. Wang (Ying); P.R. Burton (Paul); M. Soler Artigas (Maria); Y. Dong (Yanbin); H. Snieder (Harold); H. Zhu (Haidong); K. Lohman (Kurt); M.E. Rudock (Megan); S.R. Heckbert (Susan); K.L. Wiggins (Kerri); A. Doumatey (Ayo); D. Shriner (Daniel); G. Veldre (Gudrun); M. Viigimaa (Margus); S. Kinra (Sanjay); D. Prabhakaran (Dorairaj); V. Tripathy (Vikal); C.D. Langefeld (Carl); A. Rosengren (Annika); D.S. Thelle (Dag); A. Maria Corsi (Anna); A. Singleton (Andrew); T. Forrester (Terrence); G. Hilton (Gina); C.A. McKenzie (Colin); T. Salako (Tunde); N. Iwai (Naoharu); Y. Kita (Yoshikuni); T. Ogihara (Toshio); T. Ohkubo (Takayoshi); T. Okamura (Tomonori); H. Ueshima (Hirotsugu); S. Umemura (Satoshi); S. Eyheramendy (Susana); T. Meitinger (Thomas); H.E. Wichmann (Heinz Erich); Y. Shin Cho (Yoon); H.-L. Kim; J.S. Sehmi (Joban); B. Hedblad (Bo); P. Nilsson (Peter); G. Davey-Smith (George); A. Wong (Andrew); N. Narisu (Narisu); A. Stancáková (Alena); L.J. Raffel (Leslie); J. Yao (Jie); S. Kathiresan (Sekar); C.J. O'Donnell (Christopher); S.M. Schwartz (Stephen); M.A. Ikram (Arfan); W.T. Longstreth Jr; T.H. Mosley (Thomas); S. Seshadri (Sudha); N.R.G. Shrine (Nick); L.V. Wain (Louise); M.A. Morken (Mario); A.J. Swift (Amy); J. Laitinen (Jaana); I. Prokopenko (Inga); P. Zitting (Paavo); S.E. Humphries (Steve); J. Danesh (John); A. Rasheed (Asif); A. Goel (Anuj); A. Hamsten (Anders); H. Watkins (Hugh); W.H. van Gilst (Wiek); C.S. Janipalli (Charles); K. Radha Mani; C. Yajnik (Chittaranjan); A. Hofman (Albert); F.U.S. Mattace Raso (Francesco); B.A. Oostra (Ben); A. Demirkan (Ayşe); A.J. Isaacs (Aaron); F. Rivadeneira Ramirez (Fernando); E. Lakatta (Edward); M. Orrù (Marco); A. Scuteri (Angelo); M. Ala-Korpela (Mika); A.J. Kangas (Antti); L.-P. Lyytikäinen (Leo-Pekka); P. Soininen (Pasi); T. Tukiainen (Taru); P. Würtz (Peter); R. Twee-Hee Ong (Rick); M. Dörr (Marcus); H.K. Kroemer (Heyo); U. Völker (Uwe); H. Völzke (Henry); P. Galan (Pilar); S. Hercberg (Serge); G.M. Lathrop (Mark); D. Zelenika (Diana); P. Deloukas (Panagiotis); M. Mangino (Massimo); T.D. Spector (Timothy); G. Zhai (Guangju); J.F. Meschia (James F.); M.A. Nalls (Michael); P. Sharma (Pankaj); J. Terzic (Janos); M.V. Kranthi Kumar; M. Denniff (Matthew); E. Zukowska-Szczechowska (Ewa); L.E. Wagenknecht (Lynne); F. Gerald R. Fowkes; F.J. Charchar (Fadi); P.E.H. Schwarz (Peter); C. Hayward (Caroline); X. Guo (Xiuqing); C. Rotimi (Charles); M.L. Bots (Michiel); N.J. Samani (Nilesh); O. Polasek (Ozren); P.J. Talmud (Philippa); F. Nyberg (Fredrik); D. Kuh (Diana); M. Laan (Maris); K. Hveem (Kristian); Y.T. van der Schouw (Yvonne); J.P. Casas (Juan); K.L. Mohlke (Karen); P. Vineis (Paolo); O. Raitakari (Olli); S.K. Ganesh (Santhi); E. Shyong Tai; M. Laakso (Markku); D.C. Rao (Dabeeru C.); T.B. Harris (Tamara); R.W. Morris (Richard); A. Dominiczak (Anna); M. Kivimaki (Mika); M. Marmot (Michael); T. Miki (Tetsuro); D. Saleheen; G.R. Chandak (Giriraj); J. Coresh (Josef); G. Navis (Gerjan); V. Salomaa (Veikko); B.-G. Han; J.S. Kooner (Jaspal); O. Melander (Olle); P.M. Ridker (Paul); S. Bandinelli (Stefania); U. Gyllensten (Ulf); A.F. Wright (Alan); J.F. Wilson (James); L. Ferrucci (Luigi); M. Farrall (Martin); J. Tuomilehto (Jaakko); P.P. Pramstaller (Peter Paul); R. Elosua (Roberto); N. Soranzo (Nicole); E.J.G. Sijbrands (Eric); D. Altshuler (David); R.J.F. Loos (Ruth); A.R. Shuldiner (Alan); C. Gieger (Christian); P. Meneton (Pierre); A.G. Uitterlinden (André); N.J. Wareham (Nick); V. Gudnason (Vilmundur); J.I. Rotter (Jerome); R. Rettig (Rainer); M. Uda (Manuela); D.P. Strachan (David); J.C.M. Witteman (Jacqueline); A.L. Hartikainen; J.S. Beckmann (Jacques); E.A. Boerwinkle (Eric); J. Erdmann (Jeanette); R.S. Vasan (Ramachandran Srini); M. Boehnke (Michael); M.G. Larson (Martin); M.R. Järvelin; B.M. Psaty (Bruce); P. Tikka-Kleemola (Päivi); C. Newton-Cheh (Christopher); P. Elliott (Paul); D. Levy (Daniel); M. Caulfield (Mark); G.R. Abecasis (Gonçalo); L.S. Adair (Linda); S.J.L. Bakker (Stephan); I.E. Barroso (Inês)

    2011-01-01

    textabstractBlood pressure is a heritable trait influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (≥140mmg Hg systolic blood pressure ≥90mmg Hg diastolic blood pressure). Even small increments in blood pressure are

  2. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

    NARCIS (Netherlands)

    Ehret, Georg B.; Munroe, Patricia B.; Rice, Kenneth M.; Bochud, Murielle; Johnson, Andrew D.; Chasman, Daniel I.; Smith, Albert V.; Tobin, Martin D.; Verwoert, Germaine C.; Hwang, Shih-Jen; Pihur, Vasyl; Vollenweider, Peter; O'Reilly, Paul F.; Amin, Najaf; Bragg-Gresham, Jennifer L.; Teumer, Alexander; Glazer, Nicole L.; Launer, Lenore; Zhao, Jing Hua; Aulchenko, Yurii; Heath, Simon; Sõber, Siim; Parsa, Afshin; Luan, Jian'an; Arora, Pankaj; Dehghan, Abbas; Zhang, Feng; Lucas, Gavin; Hicks, Andrew A.; Jackson, Anne U.; Peden, John F.; Tanaka, Toshiko; Wild, Sarah H.; Rudan, Igor; Igl, Wilmar; Milaneschi, Yuri; Parker, Alex N.; Fava, Cristiano; Chambers, John C.; Fox, Ervin R.; Kumari, Meena; Go, Min Jin; van der Harst, Pim; Kao, Wen Hong Linda; Sjögren, Marketa; Vinay, D. G.; Alexander, Myriam; Tabara, Yasuharu; Shaw-Hawkins, Sue; Whincup, Peter H.; Liu, Yongmei; Shi, Gang; Kuusisto, Johanna; Tayo, Bamidele; Seielstad, Mark; Sim, Xueling; Nguyen, Khanh-Dung Hoang; Lehtimäki, Terho; Matullo, Giuseppe; Wu, Ying; Gaunt, Tom R.; Onland-Moret, N. Charlotte; Cooper, Matthew N.; Platou, Carl G. P.; Org, Elin; Hardy, Rebecca; Dahgam, Santosh; Palmen, Jutta; Vitart, Veronique; Braund, Peter S.; Kuznetsova, Tatiana; Uiterwaal, Cuno S. P. M.; Adeyemo, Adebowale; Palmas, Walter; Campbell, Harry; Ludwig, Barbara; Tomaszewski, Maciej; Tzoulaki, Ioanna; Palmer, Nicholette D.; Aspelund, Thor; Garcia, Melissa; Chang, Yen-Pei C.; O'Connell, Jeffrey R.; Steinle, Nanette I.; Grobbee, Diederick E.; Arking, Dan E.; Kardia, Sharon L.; Morrison, Alanna C.; Hernandez, Dena; Najjar, Samer; McArdle, Wendy L.; Hadley, David; Brown, Morris J.; Connell, John M.; Hingorani, Aroon D.; Day, Ian N. M.; Lawlor, Debbie A.; Beilby, John P.; Lawrence, Robert W.; Clarke, Robert; Hopewell, Jemma C.; Ongen, Halit; Dreisbach, Albert W.; Li, Yali; Young, J. Hunter; Bis, Joshua C.; Kähönen, Mika; Viikari, Jorma; Adair, Linda S.; Lee, Nanette R.; Chen, Ming-Huei; Olden, Matthias; Pattaro, Cristian; Bolton, Judith A. Hoffman; Köttgen, Anna; Bergmann, Sven; Mooser, Vincent; Chaturvedi, Nish; Frayling, Timothy M.; Islam, Muhammad; Jafar, Tazeen H.; Erdmann, Jeanette; Kulkarni, Smita R.; Bornstein, Stefan R.; Grässler, Jürgen; Groop, Leif; Voight, Benjamin F.; Kettunen, Johannes; Howard, Philip; Taylor, Andrew; Guarrera, Simonetta; Ricceri, Fulvio; Emilsson, Valur; Plump, Andrew; Barroso, Inês; Khaw, Kay-Tee; Weder, Alan B.; Hunt, Steven C.; Sun, Yan V.; Bergman, Richard N.; Collins, Francis S.; Bonnycastle, Lori L.; Scott, Laura J.; Stringham, Heather M.; Peltonen, Leena; Perola, Markus; Vartiainen, Erkki; Brand, Stefan-Martin; Staessen, Jan A.; Wang, Thomas J.; Burton, Paul R.; Artigas, Maria Soler; Dong, Yanbin; Snieder, Harold; Wang, Xiaoling; Zhu, Haidong; Lohman, Kurt K.; Rudock, Megan E.; Heckbert, Susan R.; Smith, Nicholas L.; Wiggins, Kerri L.; Doumatey, Ayo; Shriner, Daniel; Veldre, Gudrun; Viigimaa, Margus; Kinra, Sanjay; Prabhakaran, Dorairaj; Tripathy, Vikal; Langefeld, Carl D.; Rosengren, Annika; Thelle, Dag S.; Corsi, Anna Maria; Singleton, Andrew; Forrester, Terrence; Hilton, Gina; McKenzie, Colin A.; Salako, Tunde; Iwai, Naoharu; Kita, Yoshikuni; Ogihara, Toshio; Ohkubo, Takayoshi; Okamura, Tomonori; Ueshima, Hirotsugu; Umemura, Satoshi; Eyheramendy, Susana; Meitinger, Thomas; Wichmann, H.-Erich; Cho, Yoon Shin; Kim, Hyung-Lae; Lee, Jong-Young; Scott, James; Sehmi, Joban S.; Zhang, Weihua; Hedblad, Bo; Nilsson, Peter; Smith, George Davey; Wong, Andrew; Narisu, Narisu; Stančáková, Alena; Raffel, Leslie J.; Yao, Jie; Kathiresan, Sekar; O'Donnell, Christopher J.; Schwartz, Stephen M.; Ikram, M. Arfan; Longstreth, W. T.; Mosley, Thomas H.; Seshadri, Sudha; Shrine, Nick R. G.; Wain, Louise V.; Morken, Mario A.; Swift, Amy J.; Laitinen, Jaana; Prokopenko, Inga; Zitting, Paavo; Cooper, Jackie A.; Humphries, Steve E.; Danesh, John; Rasheed, Asif; Goel, Anuj; Hamsten, Anders; Watkins, Hugh; Bakker, Stephan J. L.; van Gilst, Wiek H.; Janipalli, Charles S.; Mani, K. Radha; Yajnik, Chittaranjan S.; Hofman, Albert; Mattace-Raso, Francesco U. S.; Oostra, Ben A.; Demirkan, Ayse; Isaacs, Aaron; Rivadeneira, Fernando; Lakatta, Edward G.; Orru, Marco; Scuteri, Angelo; Ala-Korpela, Mika; Kangas, Antti J.; Lyytikäinen, Leo-Pekka; Soininen, Pasi; Tukiainen, Taru; Würtz, Peter; Ong, Rick Twee-Hee; Dörr, Marcus; Kroemer, Heyo K.; Völker, Uwe; Völzke, Henry; Galan, Pilar; Hercberg, Serge; Lathrop, Mark; Zelenika, Diana; Deloukas, Panos; Mangino, Massimo; Spector, Tim D.; Zhai, Guangju; Meschia, James F.; Nalls, Michael A.; Sharma, Pankaj; Terzic, Janos; Kumar, M. V. Kranthi; Denniff, Matthew; Zukowska-Szczechowska, Ewa; Wagenknecht, Lynne E.; Fowkes, F. Gerald R.; Charchar, Fadi J.; Schwarz, Peter E. H.; Hayward, Caroline; Guo, Xiuqing; Rotimi, Charles; Bots, Michiel L.; Brand, Eva; Samani, Nilesh J.; Polasek, Ozren; Talmud, Philippa J.; Nyberg, Fredrik; Kuh, Diana; Laan, Maris; Hveem, Kristian; Palmer, Lyle J.; van der Schouw, Yvonne T.; Casas, Juan P.; Mohlke, Karen L.; Vineis, Paolo; Raitakari, Olli; Ganesh, Santhi K.; Wong, Tien Y.; Tai, E. Shyong; Cooper, Richard S.; Laakso, Markku; Rao, Dabeeru C.; Harris, Tamara B.; Morris, Richard W.; Dominiczak, Anna F.; Kivimaki, Mika; Marmot, Michael G.; Miki, Tetsuro; Saleheen, Danish; Chandak, Giriraj R.; Coresh, Josef; Navis, Gerjan; Salomaa, Veikko; Han, Bok-Ghee; Zhu, Xiaofeng; Kooner, Jaspal S.; Melander, Olle; Ridker, Paul M.; Bandinelli, Stefania; Gyllensten, Ulf B.; Wright, Alan F.; Wilson, James F.; Ferrucci, Luigi; Farrall, Martin; Tuomilehto, Jaakko; Pramstaller, Peter P.; Elosua, Roberto; Soranzo, Nicole; Sijbrands, Eric J. G.; Altshuler, David; Loos, Ruth J. F.; Shuldiner, Alan R.; Gieger, Christian; Meneton, Pierre; Uitterlinden, Andre G.; Wareham, Nicholas J.; Gudnason, Vilmundur; Rotter, Jerome I.; Rettig, Rainer; Uda, Manuela; Strachan, David P.; Witteman, Jacqueline C. M.; Hartikainen, Anna-Liisa; Beckmann, Jacques S.; Boerwinkle, Eric; Vasan, Ramachandran S.; Boehnke, Michael; Larson, Martin G.; Järvelin, Marjo-Riitta; Psaty, Bruce M.; Abecasis, Gonçalo R.; Chakravarti, Aravinda; Elliott, Paul; van Duijn, Cornelia M.; Newton-Cheh, Christopher; Levy, Daniel; Caulfield, Mark J.; Johnson, Toby; Tang, Hua; Knowles, Joshua; Hlatky, Mark; Fortmann, Stephen; Assimes, Themistocles L.; Quertermous, Thomas; Go, Alan; Iribarren, Carlos; Absher, Devin; Risch, Neil; Myers, Richard; Sidney, Steven; Ziegler, Andreas; Schillert, Arne; Bickel, Christoph; Sinning, Christoph; Rupprecht, Hans J.; Lackner, Karl; Wild, Philipp; Schnabel, Renate; Blankenberg, Stefan; Zeller, Tanja; Münzel, Thomas; Perret, Claire; Cambien, Francois; Tiret, Laurence; Nicaud, Viviane; Proust, Carole; Uitterlinden, Andre; van Duijn, Cornelia; Whitteman, Jaqueline; Cupples, L. Adrienne; Demissie-Banjaw, Serkalem; Ramachandran, Vasan; Smith, Albert; Folsom, Aaron; Morrison, Alanna; Chen, Ida Yii-Der; Bis, Joshua; Volcik, Kelly; Rice, Kenneth; Taylor, Kent D.; Marciante, Kristin; Smith, Nicholas; Glazer, Nicole; Heckbert, Susan; Harris, Tamara; Lumley, Thomas; Kong, Augustine; Thorleifsson, Gudmar; Thorgeirsson, Gudmundur; Holm, Hilma; Gulcher, Jeffrey R.; Stefansson, Kari; Andersen, Karl; Gretarsdottir, Solveig; Thorsteinsdottir, Unnur; Preuss, Michael; Schreiber, Stefan; König, Inke R.; Lieb, Wolfgang; Hengstenberg, Christian; Schunkert, Heribert; Fischer, Marcus; Grosshennig, Anika; Medack, Anja; Stark, Klaus; Linsel-Nitschke, Patrick; Bruse, Petra; Aherrahrou, Zouhair; Peters, Annette; Loley, Christina; Willenborg, Christina; Nahrstedt, Janja; Freyer, Jennifer; Gulde, Stephanie; Doering, Angela; Meisinger, Christina; Klopp, Norman; Illig, Thomas; Meinitzer, Andreas; Tomaschitz, Andreas; Halperin, Eran; Dobnig, Harald; Scharnagl, Hubert; Kleber, Marcus; Laaksonen, Reijo; Pilz, Stefan; Grammer, Tanja B.; Stojakovic, Tatjana; Renner, Wilfried; März, Winfried; Böhm, Bernhard O.; Winkelmann, Bernhard R.; Winkler, Karl; Hoffmann, Michael M.; Siscovick, David S.; Musunuru, Kiran; Barbalic, Maja; Guiducci, Candace; Burtt, Noel; Gabriel, Stacey B.; Stewart, Alexandre F. R.; Wells, George A.; Chen, Li; Jarinova, Olga; Roberts, Robert; McPherson, Ruth; Dandona, Sonny; Pichard, Augusto D.; Rader, Daniel J.; Devaney, Joe; Lindsay, Joseph M.; Kent, Kenneth M.; Qu, Liming; Satler, Lowell; Burnett, Mary Susan; Li, Mingyao; Reilly, Muredach P.; Wilensky, Robert; Waksman, Ron; Epstein, Stephen; Matthai, William; Knouff, Christopher W.; Waterworth, Dawn M.; Hakonarson, Hakon H.; Walker, Max C.; Hall, Alistair S.; Balmforth, Anthony J.; Wright, Benjamin J.; Nelson, Chris; Thompson, John R.; Ball, Stephen G.; Felix, Janine F.; Demissie, Serkalem; Loehr, Laura R.; Rosamond, Wayne D.; Folsom, Aaron R.; Benjamin, Emelia; Aulchenko, Yurii S.; Haritunians, Talin; Couper, David; Murabito, Joanne; Wang, Ying A.; Stricker, Bruno H.; Gottdiener, John S.; Chang, Patricia P.; Willerson, James T.; Köttgen, A.; Pattaro, C.; Böger, C. A.; Fuchsberger, C.; Olden, M.; Glazer, N. L.; Parsa, A.; Gao, X.; Yang, Q.; Smith, A. V.; O'Connell, J. R.; Li, M.; Schmidt, H.; Tanaka, T.; Isaacs, A.; Ketkar, S.; Hwang, S. J.; Johnson, A. D.; Dehghan, A.; Teumer, A.; Paré, G.; Atkinson, E. J.; Zeller, T.; Lohman, K.; Cornelis, M. C.; Probst-Hensch, N. M.; Kronenberg, F.; Tönjes, A.; Hayward, C.; Aspelund, T.; Eiriksdottir, G.; Launer, L. J.; Harris, T. B.; Rampersaud, E.; Mitchell, B. D.; Arking, D. E.; Boerwinkle, E.; Struchalin, M.; Cavalieri, M.; Singleton, A.; Giallauria, F.; Metter, J.; de Boer, J.; Haritunians, T.; Lumley, T.; Siscovick, D.; Psaty, B. M.; Zillikens, M. C.; Oostra, B. A.; Feitosa, M.; Province, M.; de Andrade, M.; Turner, S. T.; Schillert, A.; Ziegler, A.; Wild, P. S.; Schnabel, R. B.; Wilde, S.; Munzel, T. F.; Leak, T. S.; Illig, T.; Klopp, N.; Meisinger, C.; Wichmann, H. E.; Koenig, W.; Zgaga, L.; Zemunik, T.; Kolcic, I.; Minelli, C.; Hu, F. B.; Johansson, A.; Igl, W.; Zaboli, G.; Wild, S. H.; Wright, A. F.; Campbell, H.; Ellinghaus, D.; Schreiber, S.; Aulchenko, Y. S.; Felix, J. F.; Rivadeneira, F.; Uitterlinden, A. G.; Hofman, A.; Imboden, M.; Nitsch, D.; Brandstätter, A.; Kollerits, B.; Kedenko, L.; Mägi, R.; Stumvoll, M.; Kovacs, P.; Boban, M.; Campbell, S.; Endlich, K.; Völzke, H.; Kroemer, H. K.; Nauck, M.; Völker, U.; Polasek, O.; Vitart, V.; Badola, S.; Parker, A. N.; Ridker, P. M.; Kardia, S. L.; Blankenberg, S.; Liu, Y.; Curhan, G. C.; Franke, A.; Rochat, T.; Paulweber, B.; Prokopenko, I.; Wang, W.; Gudnason, V.; Shuldiner, A. R.; Coresh, J.; Schmidt, R.; Ferrucci, L.; Shlipak, M. G.; van Duijn, C. M.; Borecki, I.; Krämer, B. K.; Rudan, I.; Gyllensten, U.; Wilson, J. F.; Witteman, J. C.; Pramstaller, P. P.; Rettig, R.; Hastie, N.; Chasman, D. I.; Kao, W. H.; Heid, I. M.; Fox, C. S.; Vasan, R. S.; Lieb, W.; Felix, S. B.; Watzinger, N.; Larson, M. G.; Smith, N. L.; Grosshennig, A.; Kathiresan, S.; König, I. R.; Homuth, G.; Aragam, J.; Bis, J. C.; Erdmann, J.; Dörr, M.; Zweiker, R.; Lind, L.; Rodeheffer, R. J.; Greiser, K. H.; Levy, D.; Deckers, J. W.; Stritzke, J.; Lackner, K. J.; Ingelsson, E.; Kullo, I.; Haerting, J.; O'Donnell, C. J.; Heckbert, S. R.; Stricker, B. H.; Reffelmann, T.; Redfield, M. M.; Werdan, K.; Mitchell, G. F.; Rice, K.; Arnett, D. K.; Gottdiener, J. S.; Meitinger, T.; Blettner, M.; Friedrich, N.; Wang, T. J.; Benjamin, E. J.; Rotter, J. I.; Schunkert, H.; Chambers, J. C.; Zhang, W.; Lord, G. M.; van der Harst, P.; Lawlor, D. A.; Sehmi, J. S.; Gale, D. P.; Wass, M. N.; Ahmadi, K. R.; Bakker, S. J.; Beckmann, J.; Bilo, H. J.; Bochud, M.; Brown, M. J.; Caulfield, M. J.; Connell, J. M.; Cook, H. T.; Cotlarciuc, I.; Davey Smith, G.; de Silva, R.; Deng, G.; Devuyst, O.; Dikkeschei, L. D.; Dimkovic, N.; Dockrell, M.; Dominiczak, A.; Ebrahim, S.; Eggermann, T.; Farrall, M.; Floege, J.; Forouhi, N. G.; Gansevoort, R. T.; Han, X.; Hedblad, B.; Homan van der Heide, J. J.; Hepkema, B. G.; Hernandez-Fuentes, M.; Hypponen, E.; Johnson, T.; de Jong, P. E.; Kleefstra, N.; Lagou, V.; Lapsley, M.; Li, Y.; Loos, R. J.; Luan, J.; Luttropp, K.; Maréchal, C.; Melander, O.; Munroe, P. B.; Nordfors, L.; Peltonen, L.; Penninx, B. W.; Perucha, E.; Pouta, A.; Roderick, P. J.; Ruokonen, A.; Samani, N. J.; Sanna, S.; Schalling, M.; Schlessinger, D.; Schlieper, G.; Seelen, M. A.; Sjögren, M.; Smit, J. H.; Snieder, H.; Soranzo, N.; Spector, T. D.; Stenvinkel, P.; Sternberg, M. J.; Swaminathan, R.; Ubink-Veltmaat, L. J.; Uda, M.; Vollenweider, P.; Wallace, C.; Waterworth, D.; Zerres, K.; Waeber, G.; Wareham, N. J.; Maxwell, P. H.; McCarthy, M. I.; Jarvelin, M. R.; Mooser, V.; Abecasis, G. R.; Lightstone, L.; Scott, J.; Navis, G.; Elliott, P.; Kooner, J. S.

    2011-01-01

    Blood pressure is a heritable trait influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (≥140 mm Hg systolic blood pressure or  ≥90 mm Hg diastolic blood pressure). Even small increments in blood pressure are

  3. Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.

    Directory of Open Access Journals (Sweden)

    Melanie Kolz

    2009-06-01

    Full Text Available Elevated serum uric acid levels cause gout and are a risk factor for cardiovascular disease and diabetes. To investigate the polygenetic basis of serum uric acid levels, we conducted a meta-analysis of genome-wide association scans from 14 studies totalling 28,141 participants of European descent, resulting in identification of 954 SNPs distributed across nine loci that exceeded the threshold of genome-wide significance, five of which are novel. Overall, the common variants associated with serum uric acid levels fall in the following nine regions: SLC2A9 (p = 5.2x10(-201, ABCG2 (p = 3.1x10(-26, SLC17A1 (p = 3.0x10(-14, SLC22A11 (p = 6.7x10(-14, SLC22A12 (p = 2.0x10(-9, SLC16A9 (p = 1.1x10(-8, GCKR (p = 1.4x10(-9, LRRC16A (p = 8.5x10(-9, and near PDZK1 (p = 2.7x10(-9. Identified variants were analyzed for gender differences. We found that the minor allele for rs734553 in SLC2A9 has greater influence in lowering uric acid levels in women and the minor allele of rs2231142 in ABCG2 elevates uric acid levels more strongly in men compared to women. To further characterize the identified variants, we analyzed their association with a panel of metabolites. rs12356193 within SLC16A9 was associated with DL-carnitine (p = 4.0x10(-26 and propionyl-L-carnitine (p = 5.0x10(-8 concentrations, which in turn were associated with serum UA levels (p = 1.4x10(-57 and p = 8.1x10(-54, respectively, forming a triangle between SNP, metabolites, and UA levels. Taken together, these associations highlight additional pathways that are important in the regulation of serum uric acid levels and point toward novel potential targets for pharmacological intervention to prevent or treat hyperuricemia. In addition, these findings strongly support the hypothesis that transport proteins are key in regulating serum uric acid levels.

  4. Influence of common variants in FTO and near INSIG2 and MC4R on growth curves for adiposity in African- and European-American youth

    NARCIS (Netherlands)

    Liu, Gaifen; Zhu, Haidong; Dong, Yanbin; Podolsky, Robert H.; Treiber, Frank A.; Snieder, Harold

    Recent genome-wide association (GWA) studies identified several common variants for obesity: rs9939609 in FTO, rs7566605 near INSIG2 and both rs17782313 and rs17700633 near the MC4R gene. This study aimed to assess the influence of these polymorphisms on development of adiposity in European- (EA)

  5. Influence of oculomotor nerve afferents on central endings of primary trigeminal fibers.

    Science.gov (United States)

    Manni, E; Bortolami, R; Pettorossi, V E; Lucchi, M L; Callegari, E; Draicchio, F

    1987-12-01

    Painful fibers running in the third nerve and originating from the ophthalmic trigeminal area send their central projections at level of substantia gelatinosa of nucleus caudalis trigemini. The central endings of these fibers form axoaxonic synapses with trigeminal fibers entering the brain stem through the trigeminal root. The effect of electrical stimulation of the third nerve central stump on the central endings of trigeminal afferent fibers consists in an increased excitability, possibly resulting in a presynaptic inhibition. This inhibitory influence is due to both direct and indirect connections of the third nerve afferent fibers with the trigeminal ones.

  6. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

    Directory of Open Access Journals (Sweden)

    Sher L Hendrickson

    2010-09-01

    Full Text Available The human mitochondrial genome includes only 13 coding genes while nuclear-encoded genes account for 99% of proteins responsible for mitochondrial morphology, redox regulation, and energetics. Mitochondrial pathogenesis occurs in HIV patients and genetically, mitochondrial DNA haplogroups with presumed functional differences have been associated with differential AIDS progression.Here we explore whether single nucleotide polymorphisms (SNPs within 904 of the estimated 1,500 genes that specify nuclear-encoded mitochondrial proteins (NEMPs influence AIDS progression among HIV-1 infected patients. We examined NEMPs for association with the rate of AIDS progression using genotypes generated by an Affymetrix 6.0 genotyping array of 1,455 European American patients from five US AIDS cohorts. Successfully genotyped SNPs gave 50% or better haplotype coverage for 679 of known NEMP genes. With a Bonferroni adjustment for the number of genes and tests examined, multiple SNPs within two NEMP genes showed significant association with AIDS progression: acyl-CoA synthetase medium-chain family member 4 (ACSM4 on chromosome 12 and peroxisomal D3,D2-enoyl-CoA isomerase (PECI on chromosome 6.Our previous studies on mitochondrial DNA showed that European haplogroups with presumed functional differences were associated with AIDS progression and HAART mediated adverse events. The modest influences of nuclear-encoded mitochondrial genes found in the current study add support to the idea that mitochondrial function plays a role in AIDS pathogenesis.

  7. Sustaining Rural Afghanistan under Limited Central Government Influence

    Directory of Open Access Journals (Sweden)

    John William Groninger

    2013-06-01

    Full Text Available Land and water access insecurity, land grabbing, and unstable common property status of critical local resources continue to drive conflicts, rural landlessness and environmental problems throughout many areas of Afghanistan where formal government is weak or entirely absent.  In contrast to traditional development strategies that favor infrastructure enhancement and backed by enforced national policies, we offer Afghan-specific strategies based on resource conservation and increased capacity of local resource management institutions that can function when and where central government cannot be relied upon to assume or maintain a supportive role. Resource conservation and building local capacity are key components of existing and proposed future efforts to increase stability. However, support for these efforts, whether government or community-based, has been limited in portions of rural Afghanistan , apparently due to low stakeholder confidence in retaining access to improved land, water and other critical resources when international forces withdraw. Powerful individuals and groups, operating outside local community structures, are increasingly impacting land use practices. We suggest a thorough assessment of the present and likely future social environment, including awareness of likely conflicts resulting from agricultural or natural resource improvements, before any tangible actions are taken.

  8. River runoff influences on the Central Mediterranean overturning circulation

    Science.gov (United States)

    Verri, Giorgia; Pinardi, N.; Oddo, P.; Ciliberti, S. A.; Coppini, G.

    2018-03-01

    The role of riverine freshwater inflow on the Central Mediterranean Overturning Circulation (CMOC) was studied using a high-resolution ocean model with a complete distribution of rivers in the Adriatic and Ionian catchment areas. The impact of river runoff on the Adriatic and Ionian Sea basins was assessed by a twin experiment, with and without runoff, from 1999 to 2012. This study tries to show the connection between the Adriatic as a marginal sea containing the downwelling branch of the anti-estuarine CMOC and the large runoff occurring there. It is found that the multiannual CMOC is a persistent anti-estuarine structure with secondary estuarine cells that strengthen in years of large realistic river runoff. The CMOC is demonstrated to be controlled by wind forcing at least as much as by buoyancy fluxes. It is found that river runoff affects the CMOC strength, enhancing the amplitude of the secondary estuarine cells and reducing the intensity of the dominant anti-estuarine cell. A large river runoff can produce a positive buoyancy flux without switching off the antiestuarine CMOC cell, but a particularly low heat flux and wind work with normal river runoff can reverse it. Overall by comparing experiments with, without and with unrealistically augmented runoff we demonstrate that rivers affect the CMOC strength but they can never represent its dominant forcing mechanism and the potential role of river runoff has to be considered jointly with wind work and heat flux, as they largely contribute to the energy budget of the basin. Looking at the downwelling branch of the CMOC in the Adriatic basin, rivers are demonstrated to locally reduce the volume of Adriatic dense water formed in the Southern Adriatic Sea as a result of increased water stratification. The spreading of the Adriatic dense water into the Ionian abyss is affected as well: dense waters overflowing the Otranto Strait are less dense in a realistic runoff regime, with respect to no runoff experiment, and

  9. Genetic variants in two pathways influence serum urate levels and gout risk: a systematic pathway analysis.

    Science.gov (United States)

    Dong, Zheng; Zhou, Jingru; Xu, Xia; Jiang, Shuai; Li, Yuan; Zhao, Dongbao; Yang, Chengde; Ma, Yanyun; Wang, Yi; He, Hongjun; Ji, Hengdong; Zhang, Juan; Yuan, Ziyu; Yang, Yajun; Wang, Xiaofeng; Pang, Yafei; Jin, Li; Zou, Hejian; Wang, Jiucun

    2018-03-01

    The aims of this study were to identify candidate pathways associated with serum urate and to explore the genetic effect of those pathways on the risk of gout. Pathway analysis of the loci identified in genome-wide association studies (GWASs) showed that the ion transmembrane transporter activity pathway (GO: 0015075) and the secondary active transmembrane transporter activity pathway (GO: 0015291) were both associated with serum urate concentrations, with P FDR values of 0.004 and 0.007, respectively. In a Chinese population of 4,332 individuals, the two pathways were also found to be associated with serum urate (P FDR  = 1.88E-05 and 3.44E-04, separately). In addition, these two pathways were further associated with the pathogenesis of gout (P FDR  = 1.08E-08 and 2.66E-03, respectively) in the Chinese population and a novel gout-associated gene, SLC17A2, was identified (OR = 0.83, P FDR  = 0.017). The mRNA expression of candidate genes also showed significant differences among different groups at pathway level. The present study identified two transmembrane transporter activity pathways (GO: 0015075 and GO: 0015291) were associations with serum urate concentrations and the risk of gout. SLC17A2 was identified as a novel gene that influenced the risk of gout.

  10. A variant in the fat mass and obesity-associated gene (FTO) and variants near the melanocortin-4 receptor gene (MC4R) do not influence dietary intake

    DEFF Research Database (Denmark)

    Hasselbalch, Ann L; Angquist, Lars; Christiansen, Lene

    2010-01-01

    We investigated the role of the fat mass and obesity associated gene (FTO) and variants near the melanocortin-4 receptor gene (MC4R) in modulating habitual intake of total energy and macronutrients, glycemic index, glycemic load, dietary energy density, and energy from 20 food groups in adults...... with intake of energy from whole grains (P >or= 0.04). These associations did not remain significant after controlling for multiple testing. The outcome of this study indicates that polymorphisms in the FTO gene and near the MC4R gene do not have a role in regulating food intake and preference for specific....... In a population-based sample of 756 healthy adult twin pairs, we studied associations between FTO rs9939609, near-MC4R rs12970134, rs17700633, and rs17782313 single nucleotide polymorphisms (SNP) and habitual dietary intake. Habitual dietary intake was assessed by a 247-question FFQ. Nontransformed variables...

  11. Variants in toll-like receptor 9 gene influence susceptibility to tuberculosis in a Mexican population.

    Science.gov (United States)

    Torres-García, Diana; Cruz-Lagunas, Alfredo; García-Sancho Figueroa, Ma Cecilia; Fernández-Plata, Rosario; Baez-Saldaña, Renata; Mendoza-Milla, Criselda; Barquera, Rodrigo; Carrera-Eusebio, Aida; Ramírez-Bravo, Salomón; Campos, Lizeth; Angeles, Javier; Vargas-Alarcón, Gilberto; Granados, Julio; Gopal, Radha; Khader, Shabaana A; Yunis, Edmond J; Zuñiga, Joaquin

    2013-09-21

    The control of Mycobacterium tuberculosis (Mtb) infection begins with the recognition of mycobacterial structural components by toll like receptors (TLRs) and other pattern recognition receptors. Our objective was to determine the influence of TLRs polymorphisms in the susceptibility to develop tuberculosis (TB) in Amerindian individuals from a rural area of Oaxaca, Mexico with high TB incidence. We carried out a case-control association community based study, genotyping 12 polymorphisms of TLR2, TLR4, TLR6 and TLR9 genes in 90 patients with confirmed pulmonary TB and 90 unrelated exposed but asymptomatic household contacts. We found a significant increase in the frequency of the allele A of the TLR9 gene polymorphism rs352139 (A>G) in the group of TB patients (g.f. = 0.522) when compared with controls (g.f. = 0.383), (Pcorr = 0.01, OR = 1.75). Under the recessive model (A/G + A/A vs G/G) this polymorphism was also significantly associated with TB (Pcorr = 0.01, OR= 2.37). The association of the SNP rs352139 was statistically significant after adjustment by age, gender and comorbidities by regression logistic analysis (Dominant model: p value = 0.016, OR = 2.31; Additive model: p value = 0.023, OR = 1.68). The haplotype GAA of TLR9 SNPs was also associated with TB susceptibility (Pcorr = 0.02). Differences in the genotype or allele frequencies of TLR2, TLR4 and TLR6 polymorphisms between TB patients and healthy contacts were not detected. Our study suggests that the allele A of the intronic polymorphism rs352139 on TLR9 gene might contribute to the risk of developing TB in Mexican Amerindians.

  12. Variants in toll-like receptor 9 gene influence susceptibility to tuberculosis in a Mexican population

    Science.gov (United States)

    2013-01-01

    Background The control of Mycobacterium tuberculosis (Mtb) infection begins with the recognition of mycobacterial structural components by toll like receptors (TLRs) and other pattern recognition receptors. Our objective was to determine the influence of TLRs polymorphisms in the susceptibility to develop tuberculosis (TB) in Amerindian individuals from a rural area of Oaxaca, Mexico with high TB incidence. Methods We carried out a case–control association community based study, genotyping 12 polymorphisms of TLR2, TLR4, TLR6 and TLR9 genes in 90 patients with confirmed pulmonary TB and 90 unrelated exposed but asymptomatic household contacts. Results We found a significant increase in the frequency of the allele A of the TLR9 gene polymorphism rs352139 (A>G) in the group of TB patients (g.f. = 0.522) when compared with controls (g.f. = 0.383), (Pcorr = 0.01, OR = 1.75). Under the recessive model (A/G + A/A vs G/G) this polymorphism was also significantly associated with TB (Pcorr = 0.01, OR= 2.37). The association of the SNP rs352139 was statistically significant after adjustment by age, gender and comorbidities by regression logistic analysis (Dominant model: p value = 0.016, OR = 2.31; Additive model: p value = 0.023, OR = 1.68). The haplotype GAA of TLR9 SNPs was also associated with TB susceptibility (Pcorr = 0.02). Differences in the genotype or allele frequencies of TLR2, TLR4 and TLR6 polymorphisms between TB patients and healthy contacts were not detected. Conclusions Our study suggests that the allele A of the intronic polymorphism rs352139 on TLR9 gene might contribute to the risk of developing TB in Mexican Amerindians. PMID:24053111

  13. Time-resolved influences of functional DAT1 and COMT variants on visual perception and post-processing.

    Directory of Open Access Journals (Sweden)

    Stephan Bender

    Full Text Available BACKGROUND: Dopamine plays an important role in orienting and the regulation of selective attention to relevant stimulus characteristics. Thus, we examined the influences of functional variants related to dopamine inactivation in the dopamine transporter (DAT1 and catechol-O-methyltransferase genes (COMT on the time-course of visual processing in a contingent negative variation (CNV task. METHODS: 64-channel EEG recordings were obtained from 195 healthy adolescents of a community-based sample during a continuous performance task (A-X version. Early and late CNV as well as preceding visual evoked potential components were assessed. RESULTS: Significant additive main effects of DAT1 and COMT on the occipito-temporal early CNV were observed. In addition, there was a trend towards an interaction between the two polymorphisms. Source analysis showed early CNV generators in the ventral visual stream and in frontal regions. There was a strong negative correlation between occipito-temporal visual post-processing and the frontal early CNV component. The early CNV time interval 500-1000 ms after the visual cue was specifically affected while the preceding visual perception stages were not influenced. CONCLUSIONS: Late visual potentials allow the genomic imaging of dopamine inactivation effects on visual post-processing. The same specific time-interval has been found to be affected by DAT1 and COMT during motor post-processing but not motor preparation. We propose the hypothesis that similar dopaminergic mechanisms modulate working memory encoding in both the visual and motor and perhaps other systems.

  14. Genetic and non-genetic influences during pregnancy on infant global and site specific DNA methylation: role for folate gene variants and vitamin B12.

    Directory of Open Access Journals (Sweden)

    Jill A McKay

    Full Text Available Inter-individual variation in patterns of DNA methylation at birth can be explained by the influence of environmental, genetic and stochastic factors. This study investigates the genetic and non-genetic determinants of variation in DNA methylation in human infants. Given its central role in provision of methyl groups for DNA methylation, this study focuses on aspects of folate metabolism. Global (LUMA and gene specific (IGF2, ZNT5, IGFBP3 DNA methylation were quantified in 430 infants by Pyrosequencing®. Seven polymorphisms in 6 genes (MTHFR, MTRR, FOLH1, CβS, RFC1, SHMT involved in folate absorption and metabolism were analysed in DNA from both infants and mothers. Red blood cell folate and serum vitamin B(12 concentrations were measured as indices of vitamin status. Relationships between DNA methylation patterns and several covariates viz. sex, gestation length, maternal and infant red cell folate, maternal and infant serum vitamin B(12, maternal age, smoking and genotype were tested. Length of gestation correlated positively with IGF2 methylation (rho = 0.11, p = 0.032 and inversely with ZNT5 methylation (rho = -0.13, p = 0.017. Methylation of the IGFBP3 locus correlated inversely with infant vitamin B(12 concentration (rho = -0.16, p = 0.007, whilst global DNA methylation correlated inversely with maternal vitamin B(12 concentrations (rho = 0.18, p = 0.044. Analysis of common genetic variants in folate pathway genes highlighted several associations including infant MTRR 66G>A genotype with DNA methylation (χ(2 = 8.82, p = 0.003 and maternal MTHFR 677C>T genotype with IGF2 methylation (χ(2 = 2.77, p = 0.006. These data support the hypothesis that both environmental and genetic factors involved in one-carbon metabolism influence DNA methylation in infants. Specifically, the findings highlight the importance of vitamin B(12 status, infant MTRR genotype and maternal MTHFR genotype, all of which may influence the supply of methyl groups for

  15. A variant upstream of HLA-DRB1 and multiple variants in MICA influence susceptibility to cervical cancer in a Swedish population

    International Nuclear Information System (INIS)

    Chen, Dan; Hammer, Joanna; Lindquist, David; Idahl, Annika; Gyllensten, Ulf

    2014-01-01

    In a genome-wide association study, we have previously identified and performed the initial replication of three novel susceptibility loci for cervical cancer: rs9272143 upstream of HLA-DRB1, rs2516448 adjacent to MHC class I polypeptide-related sequence A gene (MICA), and rs3117027 at HLA-DPB2. The risk allele T of rs2516448 is in perfect linkage disequilibrium with a frameshift mutation (A5.1) in MICA exon 5, which results in a truncated protein. To validate these associations in an independent study and extend our prior work to MICA exon 5, we genotyped the single-nucleotide polymorphisms at rs9272143, rs2516448, rs3117027 and the MICA exon 5 microsatellite in a nested case–control study of 961 cervical cancer patients (827 carcinoma in situ and 134 invasive carcinoma) and 1725 controls from northern Sweden. The C allele of rs9272143 conferred protection against cervical cancer (odds ratio [OR] = 0.73, 95% confidence interval [CI] = 0.65–0.82; P = 1.6 × 10 −7 ), which is associated with higher expression level of HLA-DRB1, whereas the T allele of rs2516448 increased the susceptibility to cervical cancer (OR = 1.33, 95% CI = 1.19–1.49; P = 5.8 × 10 −7 ), with the same association shown with MICA-A5.1. The direction and the magnitude of these associations were consistent with our previous findings. We also identified protective effects of the MICA-A4 (OR = 0.80, 95% CI = 0.68–0.94; P = 6.7 × 10 −3 ) and MICA-A5 (OR = 0.60, 95% CI = 0.50–0.72; P = 3.0 × 10 −8 ) alleles. The associations with these variants are unlikely to be driven by the nearby human leukocyte antigen (HLA) alleles. No association was observed between rs3117027 and risk of cervical cancer. Our results support the role of HLA-DRB1 and MICA in the pathogenesis of cervical cancer

  16. Variant selection during α precipitation in Ti–6Al–4V under the influence of local stress – A simulation study

    International Nuclear Information System (INIS)

    Shi, R.; Wang, Y.

    2013-01-01

    Variant selection of α (hexagonal close-packed, hcp) phase during its precipitation from β (body-centered cubic, bcc) matrix plays a key role in determining the microstructural state and mechanical properties of α/β titanium alloys. In this work, we develop a three-dimensional quantitative phase field model to predict variant selection and microstructural evolution during β → α transformation in Ti–6Al–4V (wt.%) under the influence of both external and internal stresses. The model links its inputs directly to thermodynamic and mobility databases, and incorporates the crystallography of bcc to hcp transformation, elastic anisotropy and defects within semi-coherent α/β interfaces in its total free energy formulation. It is found that, for a given undercooling, the development of a transformation texture (also called microtexture) of the α phase due to variant selection during precipitation is determined by the interplay between externally applied stress or strain and internal stress generated by the precipitation reaction itself. For example, the growth of pre-existing α precipitates is accompanied by selective nucleation and growth of secondary α plates of certain variants that may not be the ones preferred by the initially applied stress. Possible measures to reduce transformation texture are discussed

  17. Candidate gene resequencing to identify rare, pedigree-specific variants influencing healthy aging phenotypes in the long life family study

    DEFF Research Database (Denmark)

    Druley, Todd E; Wang, Lihua; Lin, Shiow J

    2016-01-01

    from six pedigrees. OBFC1 (chromosome 10) is involved in telomere maintenance, and falls within a linkage peak recently reported from an analysis of telomere length in LLFS families. Two different algorithms for single gene associations identified three genes with an enrichment of variation......BACKGROUND: The Long Life Family Study (LLFS) is an international study to identify the genetic components of various healthy aging phenotypes. We hypothesized that pedigree-specific rare variants at longevity-associated genes could have a similar functional impact on healthy phenotypes. METHODS......: We performed custom hybridization capture sequencing to identify the functional variants in 464 candidate genes for longevity or the major diseases of aging in 615 pedigrees (4,953 individuals) from the LLFS, using a multiplexed, custom hybridization capture. Variants were analyzed individually...

  18. A NOS1 variant implicated in cognitive performance influences evoked neural responses during a high density EEG study of early visual perception.

    Science.gov (United States)

    O'Donoghue, Therese; Morris, Derek W; Fahey, Ciara; Da Costa, Andreia; Foxe, John J; Hoerold, Doreen; Tropea, Daniela; Gill, Michael; Corvin, Aiden; Donohoe, Gary

    2012-05-01

    The nitric oxide synthasase-1 gene (NOS1) has been implicated in mental disorders including schizophrenia and variation in cognition. The NOS1 variant rs6490121 identified in a genome wide association study of schizophrenia has recently been associated with variation in general intelligence and working memory in both patients and healthy participants. Whether this variant is also associated with variation in early sensory processing remains unclear. We investigated differences in the P1 visual evoked potential in a high density EEG study of 54 healthy participants. Given both NOS1's association with cognition and recent evidence that cognitive performance and P1 response are correlated, we investigated whether NOS1's effect on P1 response was independent of its effects on cognition using CANTAB's spatial working memory (SWM) task. We found that carriers of the previously identified risk "G" allele showed significantly lower P1 responses than non-carriers. We also found that while P1 response and SWM performance were correlated, NOS1 continued to explain a significant proportion of variation in P1 response even when its effects on cognition were accounted for. The schizophrenia implicated NOS1 variants rs6490121 influences visual sensory processing as measured by the P1 response, either as part of the gene's pleiotropic effects on multiple aspects of brain function, or because of a primary influence on sensory processing that mediates the effects already seen in higher cognitive processes. Copyright © 2011 Wiley-Liss, Inc.

  19. Cellulase variants

    Science.gov (United States)

    Blazej, Robert; Toriello, Nicholas; Emrich, Charles; Cohen, Richard N.; Koppel, Nitzan

    2015-07-14

    This invention provides novel variant cellulolytic enzymes having improved activity and/or stability. In certain embodiments the variant cellulotyic enzymes comprise a glycoside hydrolase with or comprising a substitution at one or more positions corresponding to one or more of residues F64, A226, and/or E246 in Thermobifida fusca Cel9A enzyme. In certain embodiments the glycoside hydrolase is a variant of a family 9 glycoside hydrolase. In certain embodiments the glycoside hydrolase is a variant of a theme B family 9 glycoside hydrolase.

  20. The influence of Photorhabdus luminescens strains and form variants on the reproduction and bacterial retention of Heterorhabditis megidis

    NARCIS (Netherlands)

    Gerritsen, L.J.M.; Smits, P.H.

    1997-01-01

    The preference of nematodes for feeding on, and retention of strains and form variants of symbionts was tested. Heterorhabditis megidis strains DH-SH1 (= HSH) and NLH-E87.3 (= HE) could multiply on the primary forms of both symbionts. Photorhabdus luminescens strains PSH/1 and PE/1, respectively,

  1. Influences of the common FTO rs9939609 variant on inflammatory markers throughout a broad range of body mass index

    DEFF Research Database (Denmark)

    Zimmermann, Esther; Skogstrand, Kristin; Hougaard, David M

    2011-01-01

    A recent study reported that the fatness associated A-allele of FTO rs9939609 increased plasma high sensitivity C-reactive protein (hs-CRP) levels independent of fatness. We aimed to investigate if this gene variant had fatness-independent effects on plasma hs-CRP and 10 additional circulating...

  2. Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci

    NARCIS (Netherlands)

    Liu, C. (Chunyu); A. Kraja (Aldi); J.A. Smith (Jennifer A); J. Brody (Jennifer); N. Franceschini (Nora); J.C. Bis (Joshua); K.M. Rice (Kenneth); A.C. Morrison (Alanna); Y. Lu (Yingchang); Weiss, S. (Stefan); X. Guo (Xiuqing); W. Palmas (Walter); L.W. Martin (Lisa); Y.D. Chen (Y.); Surendran, P. (Praveen); F. Drenos (Fotios); Cook, J.P. (James P.); P. Auer (Paul); A.Y. Chu (Audrey); Giri, A. (Ayush); Zhao, W. (Wei); M. Jakobsdottir (Margret); Lin, L.-A. (Li-An); J.M. Stafford (Jeanette M.); N. Amin (Najaf); Mei, H. (Hao); J. Yao (Jiefen); J.M. Voorman (Jeanine); M.G. Larson (Martin); M.L. Grove (Megan); A.V. Smith (Albert Vernon); S.J. Hwang; H. Chen (Han); T. Huan (Tianxiao); Kosova, G. (Gulum); N.O. Stitziel (Nathan); S. Kathiresan (Sekar); N.J. Samani (Nilesh); H. Schunkert (Heribert); P. Deloukas (Panagiotis); M. Li (Man); C. Fuchsberger (Christian); C. Pattaro (Cristian); M. Gorski (Mathias); C. Kooperberg (Charles); G. Papanicolaou (George); Rossouw, J.E. (Jacques E.); J.D. Faul (Jessica D.); S.L.R. Kardia (Sharon); C. Bouchard (Claude); L.J. Raffel (Leslie); Uitterlinden, A.G. (André G.); O.H. Franco (Oscar); R. Vasan (Ramachandran); C.J. O'Donnell (Christopher); K.D. Taylor (Kent); K.Y. Liu; E.P. Bottinger (Erwin); R.F. Gottesman (Rebecca); E.W. Daw (E. Warwick); F. Giulianini (Franco); S.K. Ganesh (Santhi); E. Salfati (Elias); T.B. Harris (Tamara); Launer, L.J. (Lenore J.); M. Dörr (Marcus); S.B. Felix (Stephan); R. Rettig (Rainer); H. Völzke (Henry); E. Kim (Eric); W.-J. Lee (Wen-Jane); I.T. Lee; Sheu, W.H.-H. (Wayne H.-H.); Tsosie, K.S. (Krystal S.); Edwards, D.R.V. (Digna R. Velez); Y. Liu (YongMei); Correa, A. (Adolfo); D.R. Weir (David); U. Völker (Uwe); P.M. Ridker (Paul); E.A. Boerwinkle (Eric); V. Gudnason (Vilmundur); A. Reiner (Alexander); Van Duijn, C.M. (Cornelia M.); I.B. Borecki (Ingrid); T.L. Edwards (Todd L.); A. Chakravarti (Aravinda); Rotter, J.I. (Jerome I.); B.M. Psaty (Bruce); R.J.F. Loos (Ruth); M. Fornage (Myriam); G.B. Ehret (Georg); C. Newton-Cheh (Christopher); D. Levy (Daniel); D.I. Chasman (Daniel)

    2016-01-01

    textabstractMeta-analyses of association results for blood pressure using exome-centric single-variant and gene-based tests identified 31 new loci in a discovery stage among 146,562 individuals, with follow-up and meta-analysis in 180,726 additional individuals (total n = 327,288). These blood

  3. ADRA2B deletion variant influences time-dependent effects of pre-learning stress on long-term memory.

    Science.gov (United States)

    Zoladz, Phillip R; Dailey, Alison M; Nagle, Hannah E; Fiely, Miranda K; Mosley, Brianne E; Brown, Callie M; Duffy, Tessa J; Scharf, Amanda R; Earley, McKenna B; Rorabaugh, Boyd R

    2017-04-01

    Extensive work over the past few decades has shown that certain genetic variations interact with life events to confer increased susceptibility for the development of psychological disorders. The deletion variant of the ADRA2B gene, which has been associated with enhanced emotional memory and heightened amygdala responses to emotional stimuli, might confer increased susceptibility for the development of post-traumatic stress disorder (PTSD) or related phenotypes by increasing the likelihood of traumatic memory formation. Thus, we examined whether this genetic variant would predict stress effects on learning and memory in a non-clinical sample. Two hundred and thirty-five individuals were exposed to the socially evaluated cold pressor test or a control condition immediately or 30min prior to learning a list of words that varied in emotional valence and arousal level. Participants' memory for the words was tested immediately (recall) and 24h after learning (recall and recognition), and saliva samples were collected to genotype participants for the ADRA2B deletion variant. Results showed that stress administered immediately before learning selectively enhanced long-term recall in deletion carriers. Stress administered 30min before learning impaired recognition memory in male deletion carriers, while enhancing recognition memory in female deletion carriers. These findings provide additional evidence to support the idea that ADRA2B deletion variant carriers retain a sensitized stress response system, which results in amplified effects of stress on learning and memory. The accumulating evidence regarding this genetic variant implicates it as a susceptibility factor for traumatic memory formation and PTSD-related phenotypes. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. Islamic Influence on HIV Risk and Protection Among Central Asian Male Migrant Workers in Kazakhstan.

    Science.gov (United States)

    Shaw, Stacey A; McCrimmon, Tara; Mergenova, Gaukhar; Sultangaliyeva, Alma; El-Bassel, Nabila

    2017-08-01

    HIV incidence is increasing in Central Asia, where migrant workers experience risks for acquiring sexually transmitted HIV. As a social and structural factor that may influence perceptions and behavior, we examine how Islam shapes HIV risk and protection. Phenomenological qualitative interviews examine religion and contexts of HIV risk among 48 male Central Asian migrant workers residing in Almaty, Kazakhstan. Men described nonvaginal sex, alcohol use, premarital sex, and extramarital sex as forbidden or frowned upon. Religious networks were unlikely to discuss HIV risks, and some men viewed religious affiliation or practices as protective. Marital practices including neke (religious marriage), polygyny, and bride kidnapping may be linked to risk. Findings suggest adhering to Islamic ideals may be protective for some men, but for others, assumptions of protection may enhance risk. HIV prevention strategies among Central Asian migrants may be strengthened by attention to religious and cultural understandings of risk and protection.

  5. Numerical computation of central crack growth in an active particle of electrodes influenced by multiple factors

    Science.gov (United States)

    Zhang, Yuwei; Guo, Zhansheng

    2018-03-01

    Mechanical degradation, especially fractures in active particles in an electrode, is a major reason why the capacity of lithium-ion batteries fades. This paper proposes a model that couples Li-ion diffusion, stress evolution, and damage mechanics to simulate the growth of central cracks in cathode particles (LiMn2O4) by an extended finite element method by considering the influence of multiple factors. The simulation shows that particles are likely to crack at a high discharge rate, when the particle radius is large, or when the initial central crack is longer. It also shows that the maximum principal tensile stress decreases and cracking becomes more difficult when the influence of crack surface diffusion is considered. The fracturing process occurs according to the following stages: no crack growth, stable crack growth, and unstable crack growth. Changing the charge/discharge strategy before unstable crack growth sets in is beneficial to prevent further capacity fading during electrochemical cycling.

  6. [The influence of joining central venous catheter and pressure transducer with T-junctions on central venous pressure].

    Science.gov (United States)

    Cheng, Xiuling; Yang, Wanjie; An, Youzhong; Teng, Hongyun; Zhang, Rumei; Wang, Yumei; Gao, Hailing; Hua, Ning; Song, Yan

    2015-08-01

    To investigate the influence of the number of T-junctions between central venous catheter and pressure transducer on measurement of central venous pressure ( CVP ) in patients. A prospective controlled study was conducted. The patients with CVP monitoring in Department of Critical Care Medicine of the Fifth Center Hospital in Tianjin from February to October in 2014 were enrolled. The patients were divided into three groups according to the number of T-junction between central venous catheter and pressure transducer: without T-junction control group and 1, 2, 3 T-junctions groups. In each patient, corresponding CVP values with different number of T-junctions placed between the central venous catheter and pressure sensors were determined within a certain period, and a square-wave graphic was obtained and preserved on the monitor. The own frequency ( fn ) and the attenuation coefficient ( D ) of the system of pressure measurement were calculated after measurement of the shock wave following a square-wave to obtain the distance between two vibrations and the amplitude of the shock wave. The difference in CVP, fn and D were compared among the groups. A total of 20 cases were enrolled, and 150 groups of data were collected. (1) With the increase in the number of T-junction, CVP showed a tendency of gradual reduction. The CVP of the groups of control and 1, 2, 3 T-junctions was ( 7.00±1.60 ), ( 7.00±3.00 ), ( 5.00±2.00 ), and ( 4.00±1.00 ) mmHg ( 1 mmHg = 0.133 kPa ), respectively. The CVP of 3 T-junctions group was significantly lower than that of the control group ( F = 9.333, P = 0.015 ). (2) With an increase in the number of T-junction, fn showed a tendency of gradual increase. The fn of groups control and 1, 2, 3 T-junctions was ( 12.30±0.79 ), ( 16.00±0.91 ), ( 18.10±1.75 ), ( 20.90±2.69 ) Hz, respectively. The fn of 1, 2, 3 T-junctions group was significantly higher than that of the control group ( F1 = 45.962, F2 = 45.414, F3 = 46.830, all P = 0

  7. Intestinal DMBT1 expression is modulated by Crohn's disease-associated IL23R variants and by a DMBT1 variant which influences binding of the transcription factors CREB1 and ATF-2.

    Directory of Open Access Journals (Sweden)

    Julia Diegelmann

    Full Text Available OBJECTIVES: DMBT is an antibacterial pattern recognition and scavenger receptor. In this study, we analyzed the role of DMBT1 single nucleotide polymorphisms (SNPs regarding inflammatory bowel disease (IBD susceptibility and examined their functional impact on transcription factor binding and downstream gene expression. METHODS: Seven SNPs in the DMBT1 gene region were analyzed in 2073 individuals including 818 Crohn's disease (CD patients and 972 healthy controls in two independent case-control panels. Comprehensive epistasis analyses for the known CD susceptibility genes NOD2, IL23R and IL27 were performed. The influence of IL23R variants on DMBT1 expression was analyzed. Functional analysis included siRNA transfection, quantitative PCR, western blot, electrophoretic mobility shift and luciferase assays. RESULTS: IL-22 induces DMBT1 protein expression in intestinal epithelial cells dependent on STAT3, ATF-2 and CREB1. IL-22 expression-modulating, CD risk-associated IL23R variants influence DMBT1 expression in CD patients and DMBT1 levels are increased in the inflamed intestinal mucosa of CD patients. Several DMBT1 SNPs were associated with CD susceptibility. SNP rs2981804 was most strongly associated with CD in the combined panel (p = 3.0 × 10(-7, OR 1.42; 95% CI 1.24-1.63. All haplotype groups tested showed highly significant associations with CD (including omnibus P-values as low as 6.1 × 10(-18. The most strongly CD risk-associated, non-coding DMBT1 SNP rs2981804 modifies the DNA binding sites for the transcription factors CREB1 and ATF-2 and the respective genomic region comprising rs2981804 is able to act as a transcriptional regulator in vitro. Intestinal DMBT1 expression is decreased in CD patients carrying the rs2981804 CD risk allele. CONCLUSION: We identified novel associations of DMBT1 variants with CD susceptibility and discovered a novel functional role of rs2981804 in regulating DMBT1 expression. Our data suggest an important

  8. Intestinal DMBT1 expression is modulated by Crohn's disease-associated IL23R variants and by a DMBT1 variant which influences binding of the transcription factors CREB1 and ATF-2.

    Science.gov (United States)

    Diegelmann, Julia; Czamara, Darina; Le Bras, Emmanuelle; Zimmermann, Eva; Olszak, Torsten; Bedynek, Andrea; Göke, Burkhard; Franke, Andre; Glas, Jürgen; Brand, Stephan

    2013-01-01

    DMBT is an antibacterial pattern recognition and scavenger receptor. In this study, we analyzed the role of DMBT1 single nucleotide polymorphisms (SNPs) regarding inflammatory bowel disease (IBD) susceptibility and examined their functional impact on transcription factor binding and downstream gene expression. Seven SNPs in the DMBT1 gene region were analyzed in 2073 individuals including 818 Crohn's disease (CD) patients and 972 healthy controls in two independent case-control panels. Comprehensive epistasis analyses for the known CD susceptibility genes NOD2, IL23R and IL27 were performed. The influence of IL23R variants on DMBT1 expression was analyzed. Functional analysis included siRNA transfection, quantitative PCR, western blot, electrophoretic mobility shift and luciferase assays. IL-22 induces DMBT1 protein expression in intestinal epithelial cells dependent on STAT3, ATF-2 and CREB1. IL-22 expression-modulating, CD risk-associated IL23R variants influence DMBT1 expression in CD patients and DMBT1 levels are increased in the inflamed intestinal mucosa of CD patients. Several DMBT1 SNPs were associated with CD susceptibility. SNP rs2981804 was most strongly associated with CD in the combined panel (p = 3.0 × 10(-7), OR 1.42; 95% CI 1.24-1.63). All haplotype groups tested showed highly significant associations with CD (including omnibus P-values as low as 6.1 × 10(-18)). The most strongly CD risk-associated, non-coding DMBT1 SNP rs2981804 modifies the DNA binding sites for the transcription factors CREB1 and ATF-2 and the respective genomic region comprising rs2981804 is able to act as a transcriptional regulator in vitro. Intestinal DMBT1 expression is decreased in CD patients carrying the rs2981804 CD risk allele. We identified novel associations of DMBT1 variants with CD susceptibility and discovered a novel functional role of rs2981804 in regulating DMBT1 expression. Our data suggest an important role of DMBT1 in CD pathogenesis.

  9. Critical Internal Factors Influencing The Centralization Of Stock Procurement Processes In A South African Municipality

    OpenAIRE

    Zwelihle Wiseman Nzuza; Lawrence Mpele Lekhanya

    2014-01-01

    The purpose of this paper was threefold: 1) to examine the internal factors influencing centralization of stock procurement processes, 2) to assess the relationship between demographic factors and staff understanding of Information Communication Technology (ICT) with performance improvement, and 3) to examine the relationship between prevention of corruption with management commitment. A structured questionnaire was used to collect data from 82 members of staff from procurement division in a ...

  10. Influence of genetic variants on toxicity to anti-tubercular agents: a systematic review and meta-analysis (protocol).

    Science.gov (United States)

    Richardson, Marty; Kirkham, Jamie; Dwan, Kerry; Sloan, Derek; Davies, Geraint; Jorgensen, Andrea

    2017-07-13

    Tuberculosis patients receiving anti-tuberculosis treatment may experience serious adverse drug reactions, such as hepatotoxicity. Genetic risk factors, such as polymorphisms of the NAT2, CYP2E1 and GSTM1 genes, may increase the risk of experiencing such toxicity events. Many pharmacogenetic studies have investigated the association between genetic variants and anti-tuberculosis drug-related toxicity events, and several meta-analyses have synthesised data from these studies, although conclusions from these meta-analyses are conflicting. Many meta-analyses also have serious methodological limitations, such as applying restrictive inclusion criteria, or not assessing the quality of included studies. Most also only consider hepatotoxicity outcomes and specific genetic variants. The purpose of this systematic review and meta-analysis is to give a comprehensive evaluation of the evidence base for associations between any genetic variant and anti-tuberculosis drug-related toxicity. We will search for studies in MEDLINE, EMBASE, BIOSIS and Web of Science. We will also hand search reference lists from relevant studies and contact experts in the field. We will include cohort studies, case-control studies and randomised controlled trials that recruited patients with tuberculosis who were either already established on anti-tuberculosis treatment or were commencing treatment and who were genotyped to investigate the effect of genetic variants on any anti-tuberculosis drug-related toxicity outcome. One author will screen abstracts to identify potentially relevant studies and will then obtain the full text for each potentially relevant study in order to assess eligibility. At each of these stages, a second author will independently screen/assess 10% of studies. Two authors will independently extract data and assess the quality of studies using a pre-piloted data extraction form. If appropriate, we will pool estimates of effect for each genotype on each outcome using meta

  11. Two functional variants of IRF5 influence the development of macular edema in patients with non-anterior uveitis.

    Directory of Open Access Journals (Sweden)

    Ana Márquez

    Full Text Available OBJECTIVE: Interferon (IFN signaling plays a crucial role in autoimmunity. Genetic variation in interferon regulatory factor 5 (IRF5, a major regulator of the type I interferon induction, has been associated with risk of developing several autoimmune diseases. In the current study we aimed to evaluate whether three sets of correlated IRF5 genetic variants, independently associated with SLE and with different functional roles, are involved in uveitis susceptibility and its clinical subphenotypes. METHODS: Three IRF5 polymorphisms, rs2004640, rs2070197 and rs10954213, representative of each group, were genotyped using TaqMan® allelic discrimination assays in a total of 263 non-anterior uveitis patients and 724 healthy controls of Spanish origin. RESULTS: A clear association between two of the three analyzed genetic variants, rs2004640 and rs10954213, and the absence of macular edema was observed in the case/control analysis (P FDR =5.07E-03, OR=1.48, CI 95%=1.14-1.92 and P FDR =3.37E-03, OR=1.54, CI 95%=1.19-2.01, respectively. Consistently, the subphenotype analysis accordingly with the presence/absence of this clinical condition also reached statistical significance (rs2004640: P=0.037, OR=0.69, CI 95%=0.48-0.98; rs10954213: P=0.030, OR=0.67, CI 95%=0.47-0.96, thus suggesting that both IRF5 genetic variants are specifically associated with the lack of macular edema in uveitis patients. CONCLUSION: Our results clearly showed for the first time that two functional genetic variants of IRF5 may play a role in the development of macular edema in non-anterior uveitis patients. Identifying genetic markers for macular edema could lead to the possibility of developing novel treatments or preventive therapies.

  12. Two Functional Variants of IRF5 Influence the Development of Macular Edema in Patients with Non-Anterior Uveitis

    Science.gov (United States)

    Cordero-Coma, Miguel; Ortego-Centeno, Norberto; Adán, Alfredo; Fonollosa, Alejandro; Díaz Valle, David; Pato, Esperanza; Blanco, Ricardo; Cañal, Joaquín; Díaz-Llopis, Manuel; de Ramón, Enrique; del Rio, María José; García Serrano, José Luis; Artaraz, Joseba; Martín-Villa, José Manuel; Llorenç, Víctor; Gorroño-Echebarría, Marina Begoña; Martín, Javier

    2013-01-01

    Objective Interferon (IFN) signaling plays a crucial role in autoimmunity. Genetic variation in interferon regulatory factor 5 (IRF5), a major regulator of the type I interferon induction, has been associated with risk of developing several autoimmune diseases. In the current study we aimed to evaluate whether three sets of correlated IRF5 genetic variants, independently associated with SLE and with different functional roles, are involved in uveitis susceptibility and its clinical subphenotypes. Methods Three IRF5 polymorphisms, rs2004640, rs2070197 and rs10954213, representative of each group, were genotyped using TaqMan® allelic discrimination assays in a total of 263 non-anterior uveitis patients and 724 healthy controls of Spanish origin. Results A clear association between two of the three analyzed genetic variants, rs2004640 and rs10954213, and the absence of macular edema was observed in the case/control analysis (P FDR=5.07E-03, OR=1.48, CI 95%=1.14-1.92 and P FDR=3.37E-03, OR=1.54, CI 95%=1.19-2.01, respectively). Consistently, the subphenotype analysis accordingly with the presence/absence of this clinical condition also reached statistical significance (rs2004640: P=0.037, OR=0.69, CI 95%=0.48-0.98; rs10954213: P=0.030, OR=0.67, CI 95%=0.47-0.96), thus suggesting that both IRF5 genetic variants are specifically associated with the lack of macular edema in uveitis patients. Conclusion Our results clearly showed for the first time that two functional genetic variants of IRF5 may play a role in the development of macular edema in non-anterior uveitis patients. Identifying genetic markers for macular edema could lead to the possibility of developing novel treatments or preventive therapies. PMID:24116155

  13. Revisiting the Heidenhain Variant of Creutzfeldt-Jakob Disease: Evidence for Prion Type Variability Influencing Clinical Course and Laboratory Findings.

    Science.gov (United States)

    Baiardi, Simone; Capellari, Sabina; Ladogana, Anna; Strumia, Silvia; Santangelo, Mario; Pocchiari, Maurizio; Parchi, Piero

    2016-01-01

    The Heidenhain variant defines a peculiar clinical presentation of sporadic Creutzfeldt-Jakob disease (sCJD) characterized by isolated visual disturbances at disease onset and reflecting the early targeting of prions to the occipital cortex. Molecular and histopathological typing, thus far performed in 23 cases, has linked the Heidenhain variant to the MM1 sCJD type. To contribute a comprehensive characterization of cases with the Heidenhain variant, we reviewed a series of 370 definite sCJD cases. Eighteen patients (4.9%) fulfilled the selection criteria. Fourteen of them belonging to sCJD types MM1 or MM1+2C had a short duration of isolated visual symptoms and overall clinical disease, a high prevalence of periodic sharp-wave complexes in EEG, and a marked increase of cerebrospinal fluid proteins t-tau and 14-3-3 levels. In contrast, three cases of the MM 2C or MM 2+1C types showed a longer duration of isolated visual symptoms and overall clinical disease, non-specific EEG findings, and cerebrospinal fluid concentration below threshold for the diagnosis of "probable" CJD of both 14-3-3 and t-tau. However, a brain DWI-MRI disclosed an occipital cortical hyperintensity in the majority of examined cases of both groups. While confirming the strong linkage with the methionine genotype at the polymorphic codon 129 of the prion protein gene, our results definitely establish that the Heidenhain variant can also be associated with the MM 2C sCJD type in addition to the more common MM1 type. Likewise, our results highlight the significant differences in clinical evolution and laboratory findings between cases according to the dominant PrPSc type (type 1 versus type 2).

  14. A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

    DEFF Research Database (Denmark)

    Manning, Alisa K; Hivert, Marie-France; Scott, Robert A

    2012-01-01

    pathways might be uncovered by accounting for differences in body mass index (BMI) and potential interactions between BMI and genetic variants. We applied a joint meta-analysis approach to test associations with fasting insulin and glucose on a genome-wide scale. We present six previously unknown loci...... associated with fasting insulin at P triglyceride and lower high-density lipoprotein (HDL) cholesterol levels, suggesting a role for these loci...

  15. The influence of monoamine oxidase variants on the risk of betel quid-associated oral and pharyngeal cancer.

    Science.gov (United States)

    Chen, Ping-Ho; Huang, Bin; Shieh, Tien-Yu; Wang, Yan-Hsiung; Chen, Yuk-Kwan; Wu, Ju-Hui; Huang, Jhen-Hao; Chen, Chun-Chia; Lee, Ka-Wo

    2014-01-01

    Betel quid (BQ) and areca nut (AN) (major BQ ingredient) are group I human carcinogens illustrated by International Agency for Research on Cancer and are closely associated with an elevated risk of oral potentially malignant disorders (OPMDs) and cancers of the oral cavity and pharynx. The primary alkaloid of AN, arecoline, can be metabolized via the monoamine oxidase (MAO) gene by inducing reactive oxygen species (ROS). The aim of this study was to investigate whether the variants of the susceptible candidate MAO genes are associated with OPMDs and oral and pharyngeal cancer. A significant trend of MAO-A mRNA expression was found in in vitro studies. Using paired human tissues, we confirmed the significantly decreased expression of MAO-A and MAO-B in cancerous tissues when compared with adjacent noncancerous tissues. Moreover, we determined that MAO-A single nucleotide polymorphism variants are significantly linked with oral and pharyngeal cancer patients in comparison to OPMDs patients [rs5953210 risk G-allele, odds ratio = 1.76; 95% confidence interval = 1.02-3.01]. In conclusion, we suggested that susceptible MAO family variants associated with oral and pharyngeal cancer may be implicated in the modulation of MAO gene activity associated with ROS.

  16. The Influence of Monoamine Oxidase Variants on the Risk of Betel Quid-Associated Oral and Pharyngeal Cancer

    Directory of Open Access Journals (Sweden)

    Ping-Ho Chen

    2014-01-01

    Full Text Available Betel quid (BQ and areca nut (AN (major BQ ingredient are group I human carcinogens illustrated by International Agency for Research on Cancer and are closely associated with an elevated risk of oral potentially malignant disorders (OPMDs and cancers of the oral cavity and pharynx. The primary alkaloid of AN, arecoline, can be metabolized via the monoamine oxidase (MAO gene by inducing reactive oxygen species (ROS. The aim of this study was to investigate whether the variants of the susceptible candidate MAO genes are associated with OPMDs and oral and pharyngeal cancer. A significant trend of MAO-A mRNA expression was found in in vitro studies. Using paired human tissues, we confirmed the significantly decreased expression of MAO-A and MAO-B in cancerous tissues when compared with adjacent noncancerous tissues. Moreover, we determined that MAO-A single nucleotide polymorphism variants are significantly linked with oral and pharyngeal cancer patients in comparison to OPMDs patients [rs5953210 risk G-allele, odds ratio = 1.76; 95% confidence interval = 1.02-3.01]. In conclusion, we suggested that susceptible MAO family variants associated with oral and pharyngeal cancer may be implicated in the modulation of MAO gene activity associated with ROS.

  17. Influence of cytochrome 2C19 allelic variants on on-treatment platelet reactivity evaluated by five different platelet function tests.

    Science.gov (United States)

    Gremmel, Thomas; Kopp, Christoph W; Moertl, Deddo; Seidinger, Daniela; Koppensteiner, Renate; Panzer, Simon; Mannhalter, Christine; Steiner, Sabine

    2012-05-01

    The antiplatelet effect of clopidogrel has been linked to cytochrome P450 2C19 (CYP2C19) carrier status. The presence of loss of function and gain of function variants were found to have a gene-dose effect on clopidogrel metabolism. However, genotyping is only one aspect of predicting response to clopidogrel and several platelet function tests are available to measure platelet response. Patients and methods We studied the influence of CYP2C19 allelic variants on on-treatment platelet reactivity as assessed by light transmission aggregometry (LTA), the VerifyNow P2Y12 assay, the VASP assay, multiple electrode aggregometry (MEA), and the Impact-R in 288 patients after stenting for cardiovascular disease. Allelic variants of CYP2C19 were determined with the Infiniti® CYP450 2C19+ assay and categorized into four metabolizer states (ultrarapid, extensive, intermediate, poor). Platelet reactivity increased linearly from ultrarapid to poor metabolizers using the VerifyNow P2Y12 assay (P = 0.04), the VASP assay (P = 0.02) and the Impact-R (P = 0.04). The proportion of patients with high on-treatment residual platelet reactivity (HRPR) identified by LTA, the VerifyNow P2Y12 assay and the VASP assay increased when the metabolizer status decreased, while no such relationship could be identified for results of MEA and Impact-R. The presence of loss of function variants (*2/*2, *2-8*/wt, *2/*17) was an independent predictor of HRPR in LTA and the VASP assay while it did not reach statistical significance in the VerifyNow P2Y12 assay, MEA, and the Impact-R. Depending on the type of platelet function test differences in the association of on-treatment platelet reactivity with CYP2C19 carrier status are observed. Copyright © 2011 Elsevier Ltd. All rights reserved.

  18. Glucokinase regulatory protein genetic variant interacts with omega-3 PUFA to influence insulin resistance and inflammation in metabolic syndrome.

    Directory of Open Access Journals (Sweden)

    Pablo Perez-Martinez

    Full Text Available Glucokinase Regulatory Protein (GCKR plays a central role regulating both hepatic triglyceride and glucose metabolism. Fatty acids are key metabolic regulators, which interact with genetic factors and influence glucose metabolism and other metabolic traits. Omega-3 polyunsaturated fatty acids (n-3 PUFA have been of considerable interest, due to their potential to reduce metabolic syndrome (MetS risk.To examine whether genetic variability at the GCKR gene locus was associated with the degree of insulin resistance, plasma concentrations of C-reactive protein (CRP and n-3 PUFA in MetS subjects.Homeostasis model assessment of insulin resistance (HOMA-IR, HOMA-B, plasma concentrations of C-peptide, CRP, fatty acid composition and the GCKR rs1260326-P446L polymorphism, were determined in a cross-sectional analysis of 379 subjects with MetS participating in the LIPGENE dietary cohort.Among subjects with n-3 PUFA levels below the population median, carriers of the common C/C genotype had higher plasma concentrations of fasting insulin (P = 0.019, C-peptide (P = 0.004, HOMA-IR (P = 0.008 and CRP (P = 0.032 as compared with subjects carrying the minor T-allele (Leu446. In contrast, homozygous C/C carriers with n-3 PUFA levels above the median showed lower plasma concentrations of fasting insulin, peptide C, HOMA-IR and CRP, as compared with individuals with the T-allele.We have demonstrated a significant interaction between the GCKR rs1260326-P446L polymorphism and plasma n-3 PUFA levels modulating insulin resistance and inflammatory markers in MetS subjects. Further studies are needed to confirm this gene-diet interaction in the general population and whether targeted dietary recommendations can prevent MetS in genetically susceptible individuals.ClinicalTrials.gov NCT00429195.

  19. A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

    Science.gov (United States)

    Manning, Alisa K.; Hivert, Marie-France; Scott, Robert A.; Grimsby, Jonna L.; Bouatia-Naji, Nabila; Chen, Han; Rybin, Denis; Liu, Ching-Ti; Bielak, Lawrence F.; Prokopenko, Inga; Amin, Najaf; Barnes, Daniel; Cadby, Gemma; Hottenga, Jouke-Jan; Ingelsson, Erik; Jackson, Anne U.; Johnson, Toby; Kanoni, Stavroula; Ladenvall, Claes; Lagou, Vasiliki; Lahti, Jari; Lecoeur, Cecile; Liu, Yongmei; Martinez-Larrad, Maria Teresa; Montasser, May E.; Navarro, Pau; Perry, John R. B.; Rasmussen-Torvik, Laura J.; Salo, Perttu; Sattar, Naveed; Shungin, Dmitry; Strawbridge, Rona J.; Tanaka, Toshiko; van Duijn, Cornelia M.; An, Ping; de Andrade, Mariza; Andrews, Jeanette S.; Aspelund, Thor; Atalay, Mustafa; Aulchenko, Yurii; Balkau, Beverley; Bandinelli, Stefania; Beckmann, Jacques S.; Beilby, John P.; Bellis, Claire; Bergman, Richard N.; Blangero, John; Boban, Mladen; Boehnke, Michael; Boerwinkle, Eric; Bonnycastle, Lori L.; Boomsma, Dorret I.; Borecki, Ingrid B.; Böttcher, Yvonne; Bouchard, Claude; Brunner, Eric; Budimir, Danijela; Campbell, Harry; Carlson, Olga; Chines, Peter S.; Clarke, Robert; Collins, Francis S.; Corbatón-Anchuelo, Arturo; Couper, David; de Faire, Ulf; Dedoussis, George V; Deloukas, Panos; Dimitriou, Maria; Egan, Josephine M; Eiriksdottir, Gudny; Erdos, Michael R.; Eriksson, Johan G.; Eury, Elodie; Ferrucci, Luigi; Ford, Ian; Forouhi, Nita G.; Fox, Caroline S; Franzosi, Maria Grazia; Franks, Paul W; Frayling, Timothy M; Froguel, Philippe; Galan, Pilar; de Geus, Eco; Gigante, Bruna; Glazer, Nicole L.; Goel, Anuj; Groop, Leif; Gudnason, Vilmundur; Hallmans, Göran; Hamsten, Anders; Hansson, Ola; Harris, Tamara B.; Hayward, Caroline; Heath, Simon; Hercberg, Serge; Hicks, Andrew A.; Hingorani, Aroon; Hofman, Albert; Hui, Jennie; Hung, Joseph; Jarvelin, Marjo Riitta; Jhun, Min A.; Johnson, Paul C.D.; Jukema, J Wouter; Jula, Antti; Kao, W.H.; Kaprio, Jaakko; Kardia, Sharon L. R.; Keinanen-Kiukaanniemi, Sirkka; Kivimaki, Mika; Kolcic, Ivana; Kovacs, Peter; Kumari, Meena; Kuusisto, Johanna; Kyvik, Kirsten Ohm; Laakso, Markku; Lakka, Timo; Lannfelt, Lars; Lathrop, G Mark; Launer, Lenore J.; Leander, Karin; Li, Guo; Lind, Lars; Lindstrom, Jaana; Lobbens, Stéphane; Loos, Ruth J. F.; Luan, Jian’an; Lyssenko, Valeriya; Mägi, Reedik; Magnusson, Patrik K. E.; Marmot, Michael; Meneton, Pierre; Mohlke, Karen L.; Mooser, Vincent; Morken, Mario A.; Miljkovic, Iva; Narisu, Narisu; O’Connell, Jeff; Ong, Ken K.; Oostra, Ben A.; Palmer, Lyle J.; Palotie, Aarno; Pankow, James S.; Peden, John F.; Pedersen, Nancy L.; Pehlic, Marina; Peltonen, Leena; Penninx, Brenda; Pericic, Marijana; Perola, Markus; Perusse, Louis; Peyser, Patricia A; Polasek, Ozren; Pramstaller, Peter P.; Province, Michael A.; Räikkönen, Katri; Rauramaa, Rainer; Rehnberg, Emil; Rice, Ken; Rotter, Jerome I.; Rudan, Igor; Ruokonen, Aimo; Saaristo, Timo; Sabater-Lleal, Maria; Salomaa, Veikko; Savage, David B.; Saxena, Richa; Schwarz, Peter; Seedorf, Udo; Sennblad, Bengt; Serrano-Rios, Manuel; Shuldiner, Alan R.; Sijbrands, Eric J.G.; Siscovick, David S.; Smit, Johannes H.; Small, Kerrin S.; Smith, Nicholas L.; Smith, Albert Vernon; Stančáková, Alena; Stirrups, Kathleen; Stumvoll, Michael; Sun, Yan V.; Swift, Amy J.; Tönjes, Anke; Tuomilehto, Jaakko; Trompet, Stella; Uitterlinden, Andre G.; Uusitupa, Matti; Vikström, Max; Vitart, Veronique; Vohl, Marie-Claude; Voight, Benjamin F.; Vollenweider, Peter; Waeber, Gerard; Waterworth, Dawn M; Watkins, Hugh; Wheeler, Eleanor; Widen, Elisabeth; Wild, Sarah H.; Willems, Sara M.; Willemsen, Gonneke; Wilson, James F.; Witteman, Jacqueline C.M.; Wright, Alan F.; Yaghootkar, Hanieh; Zelenika, Diana; Zemunik, Tatijana; Zgaga, Lina; Wareham, Nicholas J.; McCarthy, Mark I.; Barroso, Ines; Watanabe, Richard M.; Florez, Jose C.; Dupuis, Josée; Meigs, James B.; Langenberg, Claudia

    2013-01-01

    Recent genome-wide association studies have described many loci implicated in type 2 diabetes (T2D) pathophysiology and beta-cell dysfunction, but contributed little to our understanding of the genetic basis of insulin resistance. We hypothesized that genes implicated in insulin resistance pathways may be uncovered by accounting for differences in body mass index (BMI) and potential interaction between BMI and genetic variants. We applied a novel joint meta-analytical approach to test associations with fasting insulin (FI) and glucose (FG) on a genome-wide scale. We present six previously unknown FI loci at P<5×10−8 in combined discovery and follow-up analyses of 52 studies comprising up to 96,496non-diabetic individuals. Risk variants were associated with higher triglyceride and lower HDL cholesterol levels, suggestive of a role for these FI loci in insulin resistance pathways. The localization of these additional loci will aid further characterization of the role of insulin resistance in T2D pathophysiology. PMID:22581228

  20. A Novel Variant with Positive Natural Selection Influenced Hb A2 Levels in Chinese Individuals with β-Thalassemia.

    Science.gov (United States)

    Yu, Shanjuan; Chen, Yang; Lai, Ketong; Dewan, Roma Kajal; He, Yunyan

    2017-05-01

    β-Thalassemia (β-thal) is the most common inherited hemolytic anemia worldwide. Elevated Hb A 2 is a mark of β-thal carriers. The aim of this study was to identify the pathogenic variants associated with the Hb A 2 levels. One thousand and thirty β-thal carriers were recruited for this study. Using positive natural expression quantitative trait loci (eQTL) analysis, a significant variant was selected. Genotyping for the rs231841 polymorphism was performed by the Sequenom MassARRAY IPLEX platform. All genetic association analyses were performed with the PLINK program. The linear regression analysis showed that rs231841 in the intron region of the potassium voltage-gated channel subfamily Q member 1 (KCNQ1) gene on chromosome 11p15 was significantly associated with Hb A 2 levels. The presence of the C allele was associated with elevated Hb A 2 levels. Our results suggest that rs231841 on the KCNQ1 gene with positive natural selection is related to Hb A 2 levels in Chinese β-thal carriers, and KCNQ1 is probably associated with the expression of the β-like globin gene cluster.

  1. Clinicopathological differences between variants of the NAB2-STAT6 fusion gene in solitary fibrous tumors of the meninges and extra-central nervous system.

    Science.gov (United States)

    Nakada, Satoko; Minato, Hiroshi; Nojima, Takayuki

    2016-07-01

    Investigations on the NAB2-STAT6 fusion gene in solitary fibrous tumors (SFTs) and hemangiopericytomas (HPCs) have increased since its discovery in 2013. Although several SFTs reported without NAB2-STAT6 fusion gene analysis, we reviewed 546 SFTs/HPCs with NAB2-STAT6 fusion gene analysis in this study and investigated differences between the gene variants. In total, 452 cases tested positive for the NAB2-STAT6 fusion gene, with more than 40 variants being detected. The most frequent of these were NAB2 exon 6-STAT6 exon 16/17/18 and NAB2 exon 4-STAT6 exon 2/3, with the former occurring most frequently in SFTs in meninges, soft tissues, and head and neck; the latter predominated in SFTs in the pleura and lung. There was no difference between the histology of SFTs and fusion gene variants. A follow-up analysis of SFTs showed that 51 of 202 cases had a recurrence, with 18 of 53 meningeal SFTs having a local recurrence and/or metastasis within 0-19 years. In meninges and soft tissue, SFTs with the NAB2 exon 6-STAT6 exon 16/17/18 tended to recur more frequently than SFTs with the NAB2 exon 4-STAT6 exon 2/3. Clinicopathological data, including yearly follow-ups, are required for meningeal SFTs/HPCs to define the correlation of variants of NAB2-STAT6 fusion gene.

  2. Cardiac biopotentials influence on central nervous system functioning: first steps in hypothesis verification

    Directory of Open Access Journals (Sweden)

    Kondal'skaya Yu.O.

    2012-12-01

    Full Text Available The research goal is to verify the hypothesis on influence of cardiac biopotentials on central nervous system. Materials: 20 healthy individuals aged 18-26 years old have been participated in the investigations. Two groups composed of 10 patients each have been formed. Double increase in heart biopotentials by means of artificial impulse insertion between natural cardiac contractions has been modeled. Artificial impulses have been similar to unaffected ones, produced in a normal heart work. Additional impulses have been generated using external pacemaker and have been linked up with electrodes on the chest. They have been synchronized with the heart rhythm and located in-between R waves. The duration of those impulses has been fully matched to ventricular complex. Their amplitude has been adjusted individually depending on the height of R wave. Nervous system mobility has been used as the indicator reflecting the central nervous system functioning. Degree of mobility has been defined on the basis of tapping test results. The test has been repeated at specific intervals. Groups have been exposed to two adverse testing modes. Additional impulses have been conducted to the patients of group I within an hour over a period of the first and the third 15-minute intervals and to the patients of group II over a period of the second and the fourth 15-minute intervals. In the middle and in the end of each time interval tapping test has been carried out. After preliminary analysis two other modes of stimulation have been tested. The stimulation has been performed within the 40-minute course: over a period of the first 20-minute interval and vice versa. Results: Detailed evaluation has revealed that short-time increase of nervous processes has been checked in combination with decrease in their stability. Conclusion: The data obtained have shown that there is possible influence on central nervous system functioning. The article ends with prospects of further

  3. Transporter TAP1-637G and Immunoproteasome PSMB9-60H Variants Influence the Risk of Developing Vitiligo in the Saudi Population

    Science.gov (United States)

    Elhawary, Nasser Attia; Bogari, Neda; Jiffri, Essam Hussien; Rashad, Mona; Fatani, Abdulhamid; Tayeb, Mohammed

    2014-01-01

    We evaluated whether TAP1-rs1135216 (p.637D>G) and PSMB9-rs17587 (p.60R>H) were significantly associated with the risk and severity of vitiligo among Saudi patients. One hundred seventy-two subjects were genotyped for the TAP1-rs1135216 and PSMB9-rs17587 variants using endonuclease digestions of amplified genomic DNA. The TAP1-rs1135216 and PSMB9-rs17587 mutant alleles were strongly associated with vitiligo, with odds ratios showing five fold and two fold risks (P Vitiligo vulgaris was the most common type of disease, associated with the DG (55%) and GG (46%) genotypes for rs1135216 and with the RH genotype (59%) for rs17587. The heterozygous 637DG and 60RH genotypes were each linked with active phenotypes in 64% of cases. In conclusion, the TAP1-rs1135216 and PSMB9-rs17587 variants are significantly associated with vitiligo, and even one copy of these mutant alleles can influence the risk among Saudis. Vitiligo vulgaris is associated with genotypes containing the mutant G and H alleles. PMID:25548428

  4. Influence of central panoramic curve deviation of the mandibular image reconstruction in the implant CT

    International Nuclear Information System (INIS)

    Park, Rae Jeong; Lee, Sam Sun; Choi, Soon Chul; Park, Tae Won; You, Dong Soo

    1998-01-01

    The purpose of this study was to investigate an influence of the change of central panoramic curves on the image reconstruction in the dental implant CT. The author designed three experimental groups according to the location of central panoramic curve. In group A, central panoramic curve was determined as the curve connecting the center of roots from the first premolar to the first molar. In group B, central panoramic curve was determined as the line connecting the lingual cortical plate at the level of the mesial aspect of the first premolar with the buccal cortical plate at the level of the mesial aspect of the first molar. In group C, central panoramic curve was determined as the line connecting the buccal cortical plate at the level of the mesial aspect of the first molar. Twenty four reformatted CT images was acquired from four mandibles embedded in the resin block and twenty four contact radiographs of dog specimens were acquired. Each image was processed under Adobe Photoshop program analysed by MSPA (mandible/maxilla shape pattern analysis) variables such as MXVD, MXHD, UHD, MHD, and LHD. The obtained results were as follows ; 1. The mean of MXVD variable was 19.9, 20.2, and 20.0 in group A, B, and C, respectively, which were smaller than actual value 20.5. But, there was no significant difference among 3 groups (p>0.05). 2. The mean of MXHD, UHD, MHD, and LHD variables in group A, B, and C was 11.9, 12.2, and 12.3; 9.3, 9.5, and 9.6; 10.0, 10.3,and 10.3; 9.2, 9.3, and 9.4 respectively which were equal to or greater than the actual value 11.8, 9.3, 10.0. But, there was no significant difference among 3 groups (p>0.05). 3. The number of noneffective observations with difference over or under 1 mm with comparison to the actual value was 24 (20%), 58 (48.3%), and 52 (43.3%), respectively, in group A, B, and C. 4. In group A, the number of observations over 1mm and under 1 mm was 9 and 15, respectively, but in group B and C, the number of observations over 1

  5. Normally occurring environmental and behavioral influences on gene activity: from central dogma to probabilistic epigenesis.

    Science.gov (United States)

    Gottlieb, G

    1998-10-01

    The central dogma of molecular biology holds that "information" flows from the genes to the structure of the proteins that the genes bring about through the formula DNA-->RNA-->Protein. In this view, a set of master genes activates the DNA necessary to produce the appropriate proteins that the organism needs during development. In contrast to this view, probabilistic epigenesis holds that necessarily there are signals from the internal and external environment that activate DNA to produce the appropriate proteins. To support this view, a substantial body of evidence is reviewed showing that external environmental influences on gene activation are normally occurring events in a large variety of organisms, including humans. This demonstrates how genes and environments work together to produce functional organisms, thus extending the author's model of probabilistic epigenesis.

  6. Maritime climate influence on chaparral composition and diversity in the coast range of central California.

    Science.gov (United States)

    Vasey, Michael C; Parker, V Thomas; Holl, Karen D; Loik, Michael E; Hiatt, Seth

    2014-09-01

    We investigated the hypothesis that maritime climatic factors associated with summer fog and low cloud stratus (summer marine layer) help explain the compositional diversity of chaparral in the coast range of central California. We randomly sampled chaparral species composition in 0.1-hectare plots along a coast-to-interior gradient. For each plot, climatic variables were estimated and soil samples were analyzed. We used Cluster Analysis and Principle Components Analysis to objectively categorize plots into climate zone groups. Climate variables, vegetation composition and various diversity measures were compared across climate zone groups using ANOVA and nonmetric multidimensional scaling. Differences in climatic variables that relate to summer moisture availability and winter freeze events explained the majority of variance in measured conditions and coincided with three chaparral assemblages: maritime (lowland coast where the summer marine layer was strongest), transition (upland coast with mild summer marine layer influence and greater winter precipitation), and interior sites that generally lacked late summer water availability from either source. Species turnover (β-diversity) was higher among maritime and transition sites than interior sites. Coastal chaparral differs from interior chaparral in having a higher obligate seeder to facultative seeder (resprouter) ratio and by being dominated by various Arctostaphylos species as opposed to the interior dominant, Adenostoma fasciculatum. The maritime climate influence along the California central coast is associated with patterns of woody plant composition and β-diversity among sites. Summer fog in coastal lowlands and higher winter precipitation in coastal uplands combine to lower late dry season water deficit in coastal chaparral and contribute to longer fire return intervals that are associated with obligate seeders and more local endemism. Soil nutrients are comparatively less important in explaining plant

  7. Education influences the association between genetic variants and refractive error: a meta-analysis of five Singapore studies

    Science.gov (United States)

    Fan, Qiao; Wojciechowski, Robert; Kamran Ikram, M.; Cheng, Ching-Yu; Chen, Peng; Zhou, Xin; Pan, Chen-Wei; Khor, Chiea-Chuen; Tai, E-Shyong; Aung, Tin; Wong, Tien-Yin; Teo, Yik-Ying; Saw, Seang-Mei

    2014-01-01

    Refractive error is a complex ocular trait governed by both genetic and environmental factors and possibly their interplay. Thus far, data on the interaction between genetic variants and environmental risk factors for refractive errors are largely lacking. By using findings from recent genome-wide association studies, we investigated whether the main environmental factor, education, modifies the effect of 40 single nucleotide polymorphisms on refractive error among 8461 adults from five studies including ethnic Chinese, Malay and Indian residents of Singapore. Three genetic loci SHISA6-DNAH9, GJD2 and ZMAT4-SFRP1 exhibited a strong association with myopic refractive error in individuals with higher secondary or university education (SHISA6-DNAH9: rs2969180 A allele, β = −0.33 D, P = 3.6 × 10–6; GJD2: rs524952 A allele, β = −0.31 D, P = 1.68 × 10−5; ZMAT4-SFRP1: rs2137277 A allele, β = −0.47 D, P = 1.68 × 10−4), whereas the association at these loci was non-significant or of borderline significance in those with lower secondary education or below (P for interaction: 3.82 × 10−3–4.78 × 10−4). The evidence for interaction was strengthened when combining the genetic effects of these three loci (P for interaction = 4.40 × 10−8), and significant interactions with education were also observed for axial length and myopia. Our study shows that low level of education may attenuate the effect of risk alleles on myopia. These findings further underline the role of gene–environment interactions in the pathophysiology of myopia. PMID:24014484

  8. Holoprosencephaly Variant

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2003-01-01

    Full Text Available The clinical manifestations in 15 patients (6 boys and 9 girls with middle interhemispheric variant (MIH of holoprosencephaly (HPE were compared with classic subtypes (alobar, semilobar, and lobar of HPE in a multicenter study at Stanford University School of Medicine and Lucile Packard Children’s Hospital; Children’s Hospital of Philadelphia; University of California at San Francisco; Texas Scottish Rite Hospital, Dallas; and Kennedy Krieger Institute, Baltimore, MD.

  9. Common Variants at 10 Genomic Loci Influence Hemoglobin A(1C) Levels via Glycemic and Nonglycemic Pathways

    NARCIS (Netherlands)

    Soranzo, Nicole; Sanna, Serena; Wheeler, Eleanor; Gieger, Christian; Radke, Doerte; Dupuis, Josee; Bouatia-Naji, Nabila; Langenberg, Claudia; Prokopenko, Inga; Stolerman, Elliot; Sandhu, Manjinder S.; Heeney, Matthew M.; Devaney, Joseph M.; Reilly, Muredach P.; Ricketts, Sally L.; Stewart, Alexandre F. R.; Voight, Benjamin F.; Willenborg, Christina; Wright, Benjamin; Altshuler, David; Arking, Dan; Balkau, Beverley; Barnes, Daniel; Boerwinkle, Eric; Boehm, Bernhard; Bonnefond, Amelie; Bonnycastle, Lori L.; Boomsma, Dorret I.; Boinstein, Stefan R.; Boettcher, Yvonne; Bumpstead, Suzannah; Burnett-Miller, Mary Susan; Campbell, Harry; Cao, Antonio; Chambers, John; Clark, Robert; Collins, Francis S.; Coresh, Josef; de Geus, Eco J. C.; Dei, Mariano; Deloukas, Panos; Doering, Angela; Egan, Josephine M.; Elosua, Roberto; Ferrucci, Luigi; Forouhi, Nita; Fox, Caroline S.; Franklin, Christopher; Zhao, Jing Hua; van der Hout, Annemarie

    2010-01-01

    OBJECTIVE-Glycated hemoglobin (HbA(1c)), used to monitor and diagnose diabetes, is influenced by average glycemia over a 2- to 3-month period. Genetic factors affecting expression, turnover, and abnormal glycation of hemoglobin could also be associated with increased levels of HbA(1c). We aimed to

  10. Limited influence of haemoglobin variants on Plasmodium falciparum msp1 and msp2 alleles in symptomatic malaria

    NARCIS (Netherlands)

    Mockenhaupt, Frank P.; Ehrhardt, Stephan; Otchwemah, Rowland; Eggelte, Teunis A.; Anemana, Sylvester D.; Stark, Klaus; Bienzle, Ulrich; Kohne, Elisabeth

    2004-01-01

    Haemoglobin (Hb) S, HbC, and alpha(+)-thalassaemia confer protection from malaria. Accordingly, these traits may influence the multiplicity of infection (MOI) of Plasmodium falciparum and the presence of distinct parasite genotypes. In 840 febrile children in northern Ghana, we typed the P.

  11. The hydrochemistry of glacial Ebba River (Petunia Bay, Central Spitsbergen): Groundwater influence on surface water chemistry

    Science.gov (United States)

    Dragon, Krzysztof; Marciniak, Marek; Szpikowski, Józef; Szpikowska, Grażyna; Wawrzyniak, Tomasz

    2015-10-01

    The article presents the investigation of surface water chemistry changes of the glacial Ebba River (Central Spitsbergen) during three melting seasons of 2008, 2009 and 2010. The twice daily water chemistry analyses allow recognition of the surface water chemistry differentiation. The surface water chemistry changes are related to the river discharge and changes in the influence of different water balance components during each melting season. One of the most important process that influence river water component concentration increase is groundwater inflow from active layer occurring on the valley area. The significance of this process is the most important at the end of the melting season when temperatures below 0 °C occur on glaciers (resulting in a slowdown of melting of ice and snow and a smaller recharge of the river by the water from the glaciers) while the flow of groundwater is still active, causing a relatively higher contribution of groundwater to the total river discharge. The findings presented in this paper show that groundwater contribution to the total polar river water balance is more important than previously thought and its recognition allow a better understanding of the hydrological processes occurring in a polar environment.

  12. Common variants of the liver fatty acid binding protein gene influence the risk of type 2 diabetes and insulin resistance in Spanish population.

    Directory of Open Access Journals (Sweden)

    Maria Luisa Mansego

    Full Text Available SUMMARY: The main objective was to evaluate the association between SNPs and haplotypes of the FABP1-4 genes and type 2 diabetes, as well as its interaction with fat intake, in one general Spanish population. The association was replicated in a second population in which HOMA index was also evaluated. METHODS: 1217 unrelated individuals were selected from a population-based study [Hortega study: 605 women; mean age 54 y; 7.8% with type 2 diabetes]. The replication population included 805 subjects from Segovia, a neighboring region of Spain (446 females; mean age 52 y; 10.3% with type 2 diabetes. DM2 mellitus was defined in a similar way in both studies. Fifteen SNPs previously associated with metabolic traits or with potential influence in the gene expression within the FABP1-4 genes were genotyped with SNPlex and tested. Age, sex and BMI were used as covariates in the logistic regression model. RESULTS: One polymorphism (rs2197076 and two haplotypes of the FABP-1 showed a strong association with the risk of DM2 in the original population. This association was further confirmed in the second population as well as in the pooled sample. None of the other analyzed variants in FABP2, FABP3 and FABP4 genes were associated. There was not a formal interaction between rs2197076 and fat intake. A significant association between the rs2197076 and the haplotypes of the FABP1 and HOMA-IR was also present in the replication population. CONCLUSIONS: The study supports the role of common variants of the FABP-1 gene in the development of type 2 diabetes in Caucasians.

  13. Influence of common variants near INSIG2, in FTO, and near MC4R genes on overweight and the metabolic profile in adolescence : the TRAILS (TRacking Adolescents' Individual Lives Survey) Study

    NARCIS (Netherlands)

    Liem, E.T.; Vonk, J.M.; Sauer, P.J.J.; van der Steege, G.; Oosterom, E.; Stolk, R.P.; Snieder, H.

    Background: Overweight is a complex trait in which both environmental and genetic factors play a role. Objective: We aimed to evaluate the influence of common genetic variants identified by genome-wide association studies on overweight and the metabolic profile in adolescence. Design: In a

  14. Tail-Cuff Technique and Its Influence on Central Blood Pressure in the Mouse.

    Science.gov (United States)

    Wilde, Elena; Aubdool, Aisah A; Thakore, Pratish; Baldissera, Lineu; Alawi, Khadija M; Keeble, Julie; Nandi, Manasi; Brain, Susan D

    2017-06-27

    Reliable measurement of blood pressure in conscious mice is essential in cardiovascular research. Telemetry, the "gold-standard" technique, is invasive and expensive and therefore tail-cuff, a noninvasive alternative, is widely used. However, tail-cuff requires handling and restraint during measurement, which may cause stress affecting blood pressure and undermining reliability of the results. C57Bl/6J mice were implanted with radio-telemetry probes to investigate the effects of the steps of the tail-cuff technique on central blood pressure, heart rate, and temperature. This included comparison of handling techniques, operator's sex, habituation, and influence of hypertension induced by angiotensin II. Direct comparison of measurements obtained by telemetry and tail-cuff were made in the same mouse. The results revealed significant increases in central blood pressure, heart rate, and core body temperature from baseline following handling interventions without significant difference among the different handling technique, habituation, or sex of the investigator. Restraint induced the largest and sustained increase in cardiovascular parameters and temperature. The tail-cuff readings significantly underestimated those from simultaneous telemetry recordings; however, "nonsimultaneous" telemetry, obtained in undisturbed mice, were similar to tail-cuff readings obtained in undisturbed mice on the same day. This study reveals that the tail-cuff technique underestimates the core blood pressure changes that occur simultaneously during the restraint and measurement phases. However, the measurements between the 2 techniques are similar when tail-cuff readings are compared with telemetry readings in the nondisturbed mice. The differences between the simultaneous recordings by the 2 techniques should be recognized by researchers. © 2017 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley.

  15. Hydrochemical evaluation of the influences of mining activities on river water chemistry in central northern Mongolia.

    Science.gov (United States)

    Batsaikhan, Bayartungalag; Kwon, Jang-Soon; Kim, Kyoung-Ho; Lee, Young-Joon; Lee, Jeong-Ho; Badarch, Mendbayar; Yun, Seong-Taek

    2017-01-01

    Although metallic mineral resources are most important in the economy of Mongolia, mining activities with improper management may result in the pollution of stream waters, posing a threat to aquatic ecosystems and humans. In this study, aiming to evaluate potential impacts of metallic mining activities on the quality of a transboundary river (Selenge) in central northern Mongolia, we performed hydrochemical investigations of rivers (Tuul, Khangal, Orkhon, Haraa, and Selenge). Hydrochemical analysis of river waters indicates that, while major dissolved ions originate from natural weathering (especially, dissolution of carbonate minerals) within watersheds, they are also influenced by mining activities. The water quality problem arising from very high turbidity is one of the major environmental concerns and is caused by suspended particles (mainly, sediment and soil particles) from diverse erosion processes, including erosion of river banks along the meandering river system, erosion of soils owing to overgrazing by livestock, and erosion by human activities, such as mining and agriculture. In particular, after passing through the Zaamar gold mining area, due to the disturbance of sediments and soils by placer gold mining, the Tuul River water becomes very turbid (up to 742 Nephelometric Turbidity Unit (NTU)). The Zaamar area is also the contamination source of the Tuul and Orkhon rivers by Al, Fe, and Mn, especially during the mining season. The hydrochemistry of the Khangal River is influenced by heavy metal (especially, Mn, Al, Cd, and As)-loaded mine drainage that originates from a huge tailing dam of the Erdenet porphyry Cu-Mo mine, as evidenced by δ 34 S values of dissolved sulfate (0.2 to 3.8 ‰). These two contaminated rivers (Tuul and Khangal) merge into the Orkhon River that flows to the Selenge River near the boundary between Mongolia and Russia and then eventually flows into Lake Baikal. Because water quality problems due to mining can be critical

  16. Correlation and regression analysis of tools influencing on targets of monetary policy of Central Bank of the Russian Federation

    Directory of Open Access Journals (Sweden)

    Gordyachkova O. V.

    2016-07-01

    Full Text Available the article presents the correlation and regression analysis of the influence of the Central Bank tools of Russian monetary policy on its aims. Such analysis is the basic method of estimating monetary policy efficiency by means of quantity-related parameters. The results outlined by the authors prove the lack of efficiency of influencing tools: inflation, money supply and the exchange rate.

  17. Trace elements from the Central Pacific Mexican Shelf: Geochemical associations and anthropogenic influences

    Science.gov (United States)

    Marmolejo-Rodríguez, A. J.; Morales-Blake, A. R.; González-Chavarín, I.; Hernández-Becerril, D.; Alonso-Rodríguez, R.; Rodríguez-Palacio, M. C.; Sánchez-González, A.; Magallanes-Ordóñez, V. R.

    2017-11-01

    Baselines for major and trace elements were determined from surface sediment samples from sites located along the Central Pacific Mexican Shelf (CPMS; 16.7-20.45° N). This study area is next to the biggest harbours in Mexico, for example touristic (Puerto Vallarta and Acapulco), touristic and industrial (Manzanillo), and industrial harbours (Lázaro Cárdenas). The industrial harbours have been expanding, transporting tonnes of materials to Asia and North and South America. Oceanographic campaigns were conducted to obtain sediment from depths ranging from 56 to 159 m. The grain size was predominately fine fraction (determined for the sediments. Arsenic is enriched in the CPMS; the Normalized Enrichment Factor average (NEFAV) for As is NEFAV = 8 ± 7. However the ratio between As and Cs indicates a natural origin in the most of the sites. Cadmium, Mo, and Ag were significantly correlated with Corg enhanced precipitation of sulfide-reactive metals. Moreover, an anthropogenic influence was detected for Hg (NEFAV = 4.3 ± 1.5) and Ag (NEFAV = 8.5 ± 2.6) in the shelf near the heavily industrialized harbour of Lázaro Cárdenas.

  18. Factors influencing non-adherence to tuberculosis treatment in Jepara, central Java, Indonesia.

    Science.gov (United States)

    Rondags, Angelique; Himawan, Ari Budi; Metsemakers, Job Fm; Kristina, Tri Nur

    2014-07-01

    One of the most serious problems for tuberculosis (TB) control is non-adherence to TB treatment. We studied the factors influencing non-adherence to TB treatment in Indonesia to inform TB treatment adherence strategies. We con- ducted semi-structured interviews with non-adherent patients and key informants in Jepara, Central Java, Indonesia. Three major themes were found in reasons for non-adherence to TB treatment: 1) knowledge about TB, 2) knowledge about TB treatment and 3) choosing and changing a health care treatment facility. Respondents had an inadequate knowledge about TB and its treatment. Feeling healthy and having financial problems were the most common reasons for TB treatment non-adherence. Respondents sought treatment from many different health care providers, and often changed the treatment facility location. TB treatment adherence might improve by providing better education about the disease and its treatment to those undergoing treatment. Providing information about where to receive treatment and that treatment is free could also improve compliance.

  19. Tolerating the doubting Thomas: How centrality of religious beliefs versus practices influences prejudice against atheists

    Directory of Open Access Journals (Sweden)

    Jeffrey eHughes

    2015-09-01

    Full Text Available Past research has found a robust effect of prejudice against atheists in largely Christian-dominated (belief-oriented samples. We propose that religious centrality of beliefs vs. practices influences attitudes toward atheists, such that religious groups emphasizing beliefs perceive non-believers more negatively than believers, while groups emphasizing practices perceive non-practicing individuals more negatively than practicing individuals. Studies 1-2, in surveys of 41 countries, found that Muslims and Protestants (belief-oriented had more negative attitudes toward atheists than did Jews and Hindus (practice-oriented. Study 3 experimentally manipulated a target individual’s beliefs and practices. Protestants had more negative attitudes toward a non-believer (vs. a believer, whereas Jews had more negative attitudes toward a non-practicing individual (vs. a practicing individual, particularly when they had a Jewish background. This research has implications for the psychology of religion, anti-atheist prejudice, and cross-cultural attitudes regarding where dissent in beliefs or practices may be tolerated or censured within religious groups.

  20. Influence of Preadjusted Bracket Shape and Positioning Reference on Angulation of Upper Central Incisor.

    Science.gov (United States)

    Topolski, Francielle; de O Accorsi, Mauricio A; Trevisi, Hugo J; Cuoghi, Osmar A; Moresca, Ricardo

    2016-10-01

    To verify the influence of different bracket shapes and placement references according to Andrews and MBT systems on the expression of angulation in upper central incisors (UCI). Bracket positioning and mesiodistal dental movement simulations were performed and the angulations produced in the dental crown were evaluated, based on computed tomography scan images of 30 UCI and AutoCAD software analysis. Rectangular (Andrews) and rhomboid (MBT) brackets were placed according to the references recommended by Andrews and MBT systems - long axis of the clinical crown (LACC) and incisal edge (IE) respectively. Data showed that the use of LACC as reference for bracket positioning produced 5° and 4° UCI angulations in Andrews and MBT brackets respectively. The use of IE produced a 1.2° mean angulation in UCI for both brackets. When the LACC was used as reference for bracket positioning, the UCI crown angulation corresponded to the angulation built into the brackets, regardless of shape, while the use of IE resulted in natural crown angulation, regardless of bracket shape. This research contributes to guide the orthodontist in relation to the different treatment techniques based on the use of preadjusted brackets.

  1. Tolerating the "doubting Thomas": how centrality of religious beliefs vs. practices influences prejudice against atheists.

    Science.gov (United States)

    Hughes, Jeffrey; Grossmann, Igor; Cohen, Adam B

    2015-01-01

    Past research has found a robust effect of prejudice against atheists in largely Christian-dominated (belief-oriented) samples. We propose that religious centrality of beliefs vs. practices influences attitudes toward atheists, such that religious groups emphasizing beliefs perceive non-believers more negatively than believers, while groups emphasizing practices perceive non-practicing individuals more negatively than practicing individuals. Studies 1-2, in surveys of 41 countries, found that Muslims and Protestants (belief-oriented) had more negative attitudes toward atheists than did Jews and Hindus (practice-oriented). Study 3 experimentally manipulated a target individual's beliefs and practices. Protestants had more negative attitudes toward a non-believer (vs. a believer), whereas Jews had more negative attitudes toward a non-practicing individual (vs. a practicing individual, particularly when they had a Jewish background). This research has implications for the psychology of religion, anti-atheist prejudice, and cross-cultural attitudes regarding where dissent in beliefs or practices may be tolerated or censured within religious groups.

  2. Influence of Genetic Variants of the N-Methyl-D-Aspartate Receptor on Emotion and Social Behavior in Adolescents.

    Science.gov (United States)

    Lee, Li-Ching; Cho, Ying-Chun; Lin, Pei-Jung; Yeh, Ting-Chi; Chang, Chun-Yen; Yeh, Ting-Kuang

    2016-01-01

    Considerable evidence has suggested that the epigenetic regulation of N-methyl-D-aspartate (NMDA) glutamate receptors plays a crucial role in neuropsychiatric disorders. Previous exploratory studies have been primarily based on evidence from patients and have rarely sampled the general population. This exploratory study examined the relationship of single-nucleotide polymorphism (SNP) variations in the genes encoding the NMDA receptor (i.e., GRIN1, GRIN2A, GRIN2B, GRIN2C, and GRIN2D) with emotion and social behavior in adolescents. For this study, 832 tenth-grade Taiwanese volunteers were recruited, and their scores from the Beck Youth Inventories were used to evaluate their emotional and social impairments. Based on these scores, GRIN1 (rs4880213) was significantly associated with depression and disruptive behavior. In addition, GRIN2B (rs7301328) was significantly associated with disruptive behavior. Because emotional and social impairment greatly influence learning ability, the findings of this study provide important information for clinical treatment and the development of promising prevention and treatment strategies, especially in the area of psychological adjustment.

  3. Influence of Genetic Variants of the N-Methyl-D-Aspartate Receptor on Emotion and Social Behavior in Adolescents

    Directory of Open Access Journals (Sweden)

    Li-Ching Lee

    2016-01-01

    Full Text Available Considerable evidence has suggested that the epigenetic regulation of N-methyl-D-aspartate (NMDA glutamate receptors plays a crucial role in neuropsychiatric disorders. Previous exploratory studies have been primarily based on evidence from patients and have rarely sampled the general population. This exploratory study examined the relationship of single-nucleotide polymorphism (SNP variations in the genes encoding the NMDA receptor (i.e., GRIN1, GRIN2A, GRIN2B, GRIN2C, and GRIN2D with emotion and social behavior in adolescents. For this study, 832 tenth-grade Taiwanese volunteers were recruited, and their scores from the Beck Youth Inventories were used to evaluate their emotional and social impairments. Based on these scores, GRIN1 (rs4880213 was significantly associated with depression and disruptive behavior. In addition, GRIN2B (rs7301328 was significantly associated with disruptive behavior. Because emotional and social impairment greatly influence learning ability, the findings of this study provide important information for clinical treatment and the development of promising prevention and treatment strategies, especially in the area of psychological adjustment.

  4. Efficacy of aerosol budesonide combined with montelukast in treatment of children with cough variant asthma and its influence on lung function indexes and serum inflammatory factor levels

    Directory of Open Access Journals (Sweden)

    Hai-Li Wu

    2016-03-01

    Full Text Available Objective: To explore the efficacy of aerosol budesonide combined with montelukast in the treatment of children with cough variant asthma (CVA and its influence on lung function indexes and serum inflammatory factor levels. Methods: A total of 102 CVA children in our hospital were randomly divided into A, B, C group (n=34. Three groups were given conventional symptomatic treatment(like phlegm dispersing, anti-infection. A group was given aerosol budesonide treatment, B group was given montelukast treatment and C group was given aerosol budesonide combined with montelukast treatment. Changes of clinical symptom scores, lung function indexes and inflammatory factor levels were compared between three groups before and after treatment. Results: After treatment, clinical symptom scores and inflammatory factor-IgE, IL-4 and TNF-毩 levels in C group were significantly lower than before treatment and that in A, B group after treatment (P<0.05; lung function index- FVC, FEV1, PEF levels were significantly higher than before treatment and that in A, B group after treatment (P<0.05. There showed obvious negative correlation between lung function index-FVC, FEV1, PEF and inflammatory factor-IgE, IL-4 and TNF-α. Conclusions: On the basis of conventional symptomatic treatment (like phlegm dispersing, anti-infection, aerosol budesonide combined with montelukast treatment could reduce the inflammatory factor levels, relieve the clinical symptoms, improve the lung function indexes.

  5. The influence of (central) auditory processing disorder on the severity of speech-sound disorders in children.

    Science.gov (United States)

    Vilela, Nadia; Barrozo, Tatiane Faria; Pagan-Neves, Luciana de Oliveira; Sanches, Seisse Gabriela Gandolfi; Wertzner, Haydée Fiszbein; Carvallo, Renata Mota Mamede

    2016-02-01

    To identify a cutoff value based on the Percentage of Consonants Correct-Revised index that could indicate the likelihood of a child with a speech-sound disorder also having a (central) auditory processing disorder . Language, audiological and (central) auditory processing evaluations were administered. The participants were 27 subjects with speech-sound disorders aged 7 to 10 years and 11 months who were divided into two different groups according to their (central) auditory processing evaluation results. When a (central) auditory processing disorder was present in association with a speech disorder, the children tended to have lower scores on phonological assessments. A greater severity of speech disorder was related to a greater probability of the child having a (central) auditory processing disorder. The use of a cutoff value for the Percentage of Consonants Correct-Revised index successfully distinguished between children with and without a (central) auditory processing disorder. The severity of speech-sound disorder in children was influenced by the presence of (central) auditory processing disorder. The attempt to identify a cutoff value based on a severity index was successful.

  6. Influence of spatial resolution on precipitation simulations for the central Andes Mountains

    Science.gov (United States)

    Trachte, Katja; Bendix, Jörg

    2013-04-01

    The climate of South America is highly influenced by the north-south oriented Andes Mountains. Their complex structure causes modifications of large-scale atmospheric circulations resulting in various mesoscale phenomena as well as a high variability in the local conditions. Due to their height and length the terrain generates distinctly climate conditions between the western and the eastern slopes. While in the tropical regions along the western flanks the conditions are cold and arid, the eastern slopes are dominated by warm-moist and rainy air coming from the Amazon basin. Below 35° S the situation reverses with rather semiarid conditions in the eastern part and temperate rainy climate along southern Chile. Generally, global circulation models (GCMs) describe the state of the global climate and its changes, but are disabled to capture regional or even local features due to their coarse resolution. This is particularly true in heterogeneous regions such as the Andes Mountains, where local driving features, e. g. local circulation systems, highly varies on small scales and thus, lead to a high variability of rainfall distributions. An appropriate technique to overcome this problem and to gain regional and local scale rainfall information is the dynamical downscaling of the global data using a regional climate model (RCM). The poster presents results of the evaluation of the performance of the Weather Research and Forecasting (WRF) model over South America with special focus on the central Andes Mountains of Ecuador. A sensitivity study regarding the cumulus parametrization, microphysics, boundary layer processes and the radiation budget is conducted. With 17 simulations consisting of 16 parametrization scheme combinations and 1 default run a suitable model set-up for climate research in this region is supposed to be evaluated. The simulations were conducted in a two-way nested mode i) to examine the best physics scheme combination for the target and ii) to

  7. Do different vertical positions of maxillary central incisors influence smile esthetics perception?

    Science.gov (United States)

    Menezes, Erica Bretas Cabral; Bittencourt, Marcos Alan Vieira; Machado, Andre Wilson

    2017-01-01

    The purpose of this study was to determine the perception of smile esthetics among orthodontists and layperson, with respect to different maxillary central incisors vertical positions in full-face and close-up smile analyses. Frontal photographs of the smiles of two adult women were used. Images were altered to create a symmetrical image with the gingival margin levels of the maxillary canines matching the central incisors and a 1.0-mm central-to-lateral incisal step. Later, the images were altered in order to create six different central incisor vertical positions in 0.5-mm increments. The images were randomly assembled in an album, which was given to 114 judges, 57 orthodontists and 57 laypersons, who were asked to evaluate the attractiveness of the images using the visual analog scale. The data collected were statistically analyzed by means of 1-way analysis of variance with the Tukey post-hoc test and the Student t test. The highest rated smiles showed two notable characteristics: a) the central incisor gingival margins matched or were 0.5 mm below the line of the canine gingival margins and; b) the central-to-lateral incisal step was 1.0 to 1.5 mm. The worst smiles showed two notable characteristics: a) the central incisor gingival margins were 1.0 mm above or 1.5 mm below the canine gingival margins and; b) no step between the centrals and laterals or a 2.5-mm step. The vertical position of the maxillary central incisors significantly affected the perception of the smile esthetics, whereas slightly extruded central incisors were more esthetically preferred than intruded.

  8. Do different vertical positions of maxillary central incisors influence smile esthetics perception?

    Directory of Open Access Journals (Sweden)

    Erica Bretas Cabral Menezes

    Full Text Available ABSTRACT INTRODUCTION: The purpose of this study was to determine the perception of smile esthetics among orthodontists and layperson, with respect to different maxillary central incisors vertical positions in full-face and close-up smile analyses. METHODS: Frontal photographs of the smiles of two adult women were used. Images were altered to create a symmetrical image with the gingival margin levels of the maxillary canines matching the central incisors and a 1.0-mm central-to-lateral incisal step. Later, the images were altered in order to create six different central incisor vertical positions in 0.5-mm increments. The images were randomly assembled in an album, which was given to 114 judges, 57 orthodontists and 57 laypersons, who were asked to evaluate the attractiveness of the images using the visual analog scale. The data collected were statistically analyzed by means of 1-way analysis of variance with the Tukey post-hoc test and the Student t test. RESULTS: The highest rated smiles showed two notable characteristics: a the central incisor gingival margins matched or were 0.5 mm below the line of the canine gingival margins and; b the central-to-lateral incisal step was 1.0 to 1.5 mm. The worst smiles showed two notable characteristics: a the central incisor gingival margins were 1.0 mm above or 1.5 mm below the canine gingival margins and; b no step between the centrals and laterals or a 2.5-mm step. CONCLUSION: The vertical position of the maxillary central incisors significantly affected the perception of the smile esthetics, whereas slightly extruded central incisors were more esthetically preferred than intruded.

  9. A NOS1 variant implicated in cognitive performance influences evoked neural responses during a high density EEG study of early visual perception.

    LENUS (Irish Health Repository)

    O'Donoghue, Therese

    2012-05-01

    The nitric oxide synthasase-1 gene (NOS1) has been implicated in mental disorders including schizophrenia and variation in cognition. The NOS1 variant rs6490121 identified in a genome wide association study of schizophrenia has recently been associated with variation in general intelligence and working memory in both patients and healthy participants. Whether this variant is also associated with variation in early sensory processing remains unclear.

  10. Social influence on associative learning: double dissociation in high-functioning autism, early-stage behavioural variant frontotemporal dementia and Alzheimer's disease.

    Science.gov (United States)

    Kéri, Szabolcs

    2014-05-01

    Most of our learning activity takes place in a social context. I examined how social interactions influence associative learning in neurodegenerative diseases and atypical neurodevelopmental conditions primarily characterised by social cognitive and memory dysfunctions. Participants were individuals with high-functioning autism (HFA, n = 18), early-stage behavioural variant frontotemporal dementia (bvFTD, n = 16) and Alzheimer's disease (AD, n = 20). The leading symptoms in HFA and bvFTD were social and behavioural dysfunctions, whereas AD was characterised by memory deficits. Participants received three versions of a paired associates learning task. In the game with boxes test, objects were hidden in six candy boxes placed in different locations on the computer screen. In the game with faces, each box was labelled by a photo of a person. In the real-life version of the game, participants played with real persons. Individuals with HFA and bvFTD performed well in the computer games, but failed on the task including real persons. In contrast, in patients with early-stage AD, social interactions boosted paired associates learning up to the level of healthy control volunteers. Worse performance in the real life game was associated with less successful recognition of complex emotions and mental states in the Reading the Mind in the Eyes Test. Spatial span did not affect the results. When social cognition is impaired, but memory systems are less compromised (HFA and bvFTD), real-life interactions disrupt associative learning; when disease process impairs memory systems but social cognition is relatively intact (early-stage AD), social interactions have a beneficial effect on learning and memory. Copyright © 2014 Elsevier Ltd. All rights reserved.

  11. Influence of cell density and phase variants of bacterial symbionts (Xenorhabdus spp.) on dauer juvenile recovery and development of biocontrol nematodes Steinernema carpocapsae and S. feltiae (Nematoda: Rhabditida).

    Science.gov (United States)

    Hirao, A; Ehlers, R-U

    2009-08-01

    The rhabditid nematodes Steinernema carpocapsae and Steinernema feltiae are used in biological control of insect pests. Mass production is done in liquid culture media pre-incubated with their bacterial symbionts Xenorhabdus nematophila and Xenorhabdus bovienii, respectively, before nematode dauer juveniles (DJs) are inoculated. As a response to food signals produced by the bacterial symbionts, the DJs exit from the developmentally arrested dauer stage (they recover development) and grow to adults, which produce DJ offspring. Variable DJ recovery after inoculation often causes process failure due to non-synchronous population development and low numbers of adult nematodes. This contribution investigated the influence of the bacterial cell density on DJ recovery and development to adults. At higher density of 10(10) bacterial cells ml(-1), a higher percentage of DJ recovery was induced, and adults occurred earlier in both Steinernema spp. than at lower density of 10(9) and 10(8) cells ml(-1). Xenorhabdus symbionts produce phase variants. Recovery in bacteria-free supernatants was lower than in supernatants containing bacterial cells for both primary and secondary phase Xenorhabdus spp. and lower in secondary than in primary phase supernatants or cell suspensions. In general, recovery was lower for Steinernema feltiae and the time at which 50% of the population had recovered after exposure to the food signal was longer (RT(50) = 17.1 h) than for Steinernema carpocapsae (RT(50) = 6.6 h). Whereas >90% S. carpocapsae DJs recovered in hemolymph serum of the lepidopteran insect Galleria mellonella, recovery of S. feltiae only reached 31%. Penetration into a host insect prior to exposure to the insect's food signal did not enhance DJ recovery. Consequences for liquid culture mass production of the nematodes and differences between species of the genera Steinernema and Heterorhabditis are discussed.

  12. Seismic influence in the Quaternary uplift of the Central Chile coastal margin, preliminary results.

    Science.gov (United States)

    Valdivia, D.; del Valle, F.; Marquardt, C.; Elgueta, S.

    2017-12-01

    In order to quantify the influence of NW striking potentially seismogenic normal faults over the longitudinal variation of the Central Chile Coastal margin uplift, we measured Quaternary marine terraces, which represent the tectonic uplift of the coastal margin. Movement in margin oblique normal faults occurs by co-seismic extension of major subduction earthquakes and has occurred in the Pichilemu fault, generating a 7.0 Mw earthquake after the 2010 8.8 Mw Maule earthquake.The coastal area between 32° and 34° S was selected due to the presence of a well-preserved sequence of 2 to 5 Quaternary marine terraces. In particular, the margin oblique normal NW-trending, SW-dipping Laguna Verde fault, south of Valparaiso (33° S) puts in contact contrasting morphologies: to the south, a flat coast with wide marine terraces is carved in both, Jurassic plutonic rocks and Neogene semi-consolidated marine sediments; to the north, a steeper scarp with narrower marine terraces, over 120 m above the corresponding ones in the southern coast, is carved in Jurassic plutonic rocks.We have collected over 6 months microseimic data, providing information on seismic activity and underground geometry of the Laguna Verde fault. We collected ca. 100 systematic measurements of fringes at the base of paleo coastal scarps through field mapping and a 5 m digital elevation model. These fringes mark the maximum sea level during the terrace's carving.The heights of these fringes range between 0 and 250 masl. We estimate a 0.7 mm/yr slip rate for the Laguna Verde fault based on the height difference between corresponding terraces north- and southward, with an average uplift rate of 0.3 mm/yr for the whole area.NW striking normal faults, besides representing a potential seismic threat to the near population on one of the most densely populated areas of Chile, heavily controls the spatial variation of the coastal margin uplift. In Laguna Verde, the uplift rate differs more than three times northward

  13. Influence of uncomplicated phacoemulsification on central macular thickness in diabetic patients: a meta-analysis.

    Directory of Open Access Journals (Sweden)

    Jianping Liu

    Full Text Available To evaluate the effect of uncomplicated phacoemulsification on central macular thickness (CMT and best corrected visual acuity (BCVA in both diabetic patients without diabetic retinopathy (DR and diabetic patients with mild to moderate non-proliferative diabetic retinopathy (NPDR.Potential prospective observational studies were searched through PubMed and EMBASE. Standardized mean difference (SMD and 95% confidence interval (CI for changes in CMT and BCVA were evaluated at postoperative 1, 3 and 6 months. The pooled effect estimates were calculated in the use of a random-effects model.A total of 10 studies involving 190 eyes of diabetic patients without diabetic retinopathy and 143 eyes of diabetic patients with NPDR were identified. CMT values demonstrated a statistically significant increase after uncomplicated phacoemulsification at 1 month (SMD, -0.814; 95%CI, -1.230 to -0.399, 3 months (SMD, -0.565; 95%CI, -0.927 to -0.202 and 6 months (SMD, -0.458; 95%CI, -0.739 to -0.177 in diabetic patients with NPDR. There was no statistical difference in CMT values at postoperative 1 month (SMD, -1.206; 95%CI, -2.433 to 0.021and no statistically significant increase in CMT values at postoperative3 months (SMD, -0.535; 95%CI, -1.252 to 0.182 and 6 months (SMD, -1.181; 95%CI, -2.625 to 0.263 in diabetic patients without DR.BCVA was significantly increased at postoperative 1 month (SMD, 1.149; 95%CI, 0.251 to 2.047; and SMD,1.349; 95%CI, 0.264 to 2.434, respectively and 6 months (SMD, 1.295; 95%CI, 0.494 to 2.096; and SMD, 2.146; 95%CI, 0.172 to 4.120, respectively in both diabetic patients without DR and diabetic patients with NPDR. Sensitivity analysis showed that the results were relatively stable and reliable.Uncomplicated phacoemulsification in diabetic patients with mild to moderate NPDR seemed to influence significantly the subclinical thickening of the macular zones at postoperative 1, 3 and 6 months compared with diabetic patients without DR

  14. Influence of hydrography of Central Mexican Pacific in the spatial variation of inorganic nutrients during 2010

    Science.gov (United States)

    Olivos-Ortiz, A.; Gaviño-Rodríguez, J. H.; Quijano-Scheggia, S.; Pelayo-Martinez, G.; Torres-Orozco, E.; Calva-Chavez, M.

    2014-12-01

    The Mexican Central Pacific (MCP) is considered an oligotrophic area that holds important populations of different species with ecological and economic importance like marine mammals, billfish and tunas. Hydrographic mechanisms are responsible to interplay with the biogeochemical cycles of nutrients to support primary productivity for these food webs. It is argued that seasonal upwelling of bottom waters rich in nutrients generates distributed in patches of high-productivity, which are also linked to topographic continental forcing. The goal of this study is determine the presence of water masses, depth of the mixed layer, temperature, salinity, patterns of geostrophic currents and their influence on the spatiotemporal variability of inorganic nutrients. For that pupose, three oceanographic cruises were conducted in January, May-June, and October of 2010 off the coast of the MCP. Each campaign consisted of 15 stations in five perpendicular transects with stations at 2, 50 and 100 nm offshore. At each station samples were taken to determine the concentration of NO3-+ NO2-, NH4+, PO43- and SiO2 at 0, 10, 25, 50, 75, 100, 150 and 200 m depth. CTD casts were made up to 500m to obtain profiles of salinity, temperature, water masses, and identify geostrophic currents (direction and intensity). Identified water masses were: Pacific Tropical Surface Water (PTSW), Pacific Equatorial Surface Water (PESW), Equatorial Pacific Water (EPW), California Current Water (CCW), Subtropical Subsurface Water (STSsW), and Pacific Intermediate Water (PIT); these water masses were present in all three seasons being more clear the presence of CCW during autumn and PTSW in winter. The interaction between coastal topography, geostrophic circulation, and the depth of the mixed layer (55m oceanic part in January and 10m coastal area in October) were the factors that determined the location of areas of high concentration of nutrients. The distribution of nutrients was heterogeneous

  15. Influence of blood flow occlusion on the development of peripheral and central fatigue during small muscle mass handgrip exercise.

    Science.gov (United States)

    Broxterman, R M; Craig, J C; Smith, J R; Wilcox, S L; Jia, C; Warren, S; Barstow, T J

    2015-09-01

    Critical power represents an important threshold for neuromuscular fatigue development and may, therefore, dictate intensities for which exercise tolerance is determined by the magnitude of fatigue accrued. Peripheral fatigue appears to be constant across O2 delivery conditions for large muscle mass exercise, but this consistency is equivocal for smaller muscle mass exercise. We sought to determine the influence of blood flow occlusion during handgrip exercise on neuromuscular fatigue development and to examine the relationship between neuromuscular fatigue development and W '. Blood flow occlusion influenced the development of both peripheral and central fatigue, thus providing further evidence that the magnitude of peripheral fatigue is not constant across O2 delivery conditions for small muscle mass exercise. W ' appears to be related to the magnitude of fatigue accrued during exercise, which may explain the reported consistency of intramuscular metabolic perturbations and work performed for severe-intensity exercise. The influence of the muscle metabolic milieu on peripheral and central fatigue is currently unclear. Moreover, the relationships between peripheral and central fatigue and the curvature constant (W ') have not been investigated. Six men (age: 25 ± 4 years, body mass: 82 ± 10 kg, height: 179 ± 4 cm) completed four constant power handgrip tests to exhaustion under conditions of control exercise (Con), blood flow occlusion exercise (Occ), Con with 5 min post-exercise blood flow occlusion (Con + Occ), and Occ with 5 min post-exercise blood flow occlusion (Occ + Occ). Neuromuscular fatigue measurements and W ' were obtained for each subject. Each trial resulted in significant peripheral and central fatigue. Significantly greater peripheral (79.7 ± 5.1% vs. 22.7 ± 6.0%) and central (42.6 ± 3.9% vs. 4.9 ± 2.0%) fatigue occurred for Occ than for Con. In addition, significantly greater peripheral (83.0 ± 4.2% vs. 69.0 ± 6.2%) and central

  16. Study on the influence of lipid peak to the results of MR spectroscopy in the central gland of prostate

    International Nuclear Information System (INIS)

    Dong Yanjun; Wang Xiaoying; Li Feiyu; Jiang Xuexiang

    2007-01-01

    Objective: To study the influence of lipid peak to MRS in central gland of prostate gland. Methods: Seventeen patients performed transurethral resection of prostate (TURP) for benign prostate hyperplasia (BPH) were enrolled in this study. Three groups were divided according to the pathological findings: glandular-BPH (GBPH) (7 cases), stromal-BPH (SBPH) (6 cases), and incidentally detected prostate carcinoma (IDPC) (4 cases). The voxel with lipid peak in the field of volume was counted. Compared with pathology, the following studies were performed: (1) The location of the voxels that more frequently presented lipid peak in the central gland. (2) Whether the appearance of the lipid peak would obscure the identification of the peaks of the endogenous metabolites. Results: The ratio of voxels with lipid peak in central gland was about 22.8% (834/3567). There were 1477 (397 voxels with lipid peak), 1434(396 voxels with lipid peak), and 656(41 voxels with lipid peak) voxels in CBPH, SBPH, and IDPC groups, respectively. The percentage in GBPH, SBPH, and IDPC groups was 23.6%, 27.2%, and 6.4%, respectively. The percentage of voxels with lipid peak at the edge of the central gland (79.6%, 68.6% and 72.4%, respectively) was higher than that in other regions. The lipid peak in most of the voxels didn't influence the identification of the citrate and choline peak (82.8%, 98.0%, and 96.4%, respectively). Conclusion: The lipid peak in the central gland may result from the lipid tissues near the gland, and most lipid peak had no influence on the identification of endogenous metabolites. (authors)

  17. Biogenic influence on the growth of ferromanganese micronodules in the Central Indian Ocean

    Digital Repository Service at National Institute of Oceanography (India)

    Banerjee, R.; Iyer, S.D.

    In a 20 cm core collected from the Central Indian Basin, with increasing depth, the abundance of ferromanganese micronodules decreases as their size increases, and the surface texture changes from rough to smooth. Biological debris, including...

  18. BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.

    Directory of Open Access Journals (Sweden)

    Nic Waddell

    2008-05-01

    Full Text Available The functional consequences of missense variants in disease genes are difficult to predict. We assessed if gene expression profiles could distinguish between BRCA1 or BRCA2 pathogenic truncating and missense mutation carriers and familial breast cancer cases whose disease was not attributable to BRCA1 or BRCA2 mutations (BRCAX cases. 72 cell lines from affected women in high-risk breast ovarian families were assayed after exposure to ionising irradiation, including 23 BRCA1 carriers, 22 BRCA2 carriers, and 27 BRCAX individuals. A subset of 10 BRCAX individuals carried rare BRCA1/2 sequence variants considered to be of low clinical significance (LCS. BRCA1 and BRCA2 mutation carriers had similar expression profiles, with some subclustering of missense mutation carriers. The majority of BRCAX individuals formed a distinct cluster, but BRCAX individuals with LCS variants had expression profiles similar to BRCA1/2 mutation carriers. Gaussian Process Classifier predicted BRCA1, BRCA2 and BRCAX status, with a maximum of 62% accuracy, and prediction accuracy decreased with inclusion of BRCAX samples carrying an LCS variant, and inclusion of pathogenic missense carriers. Similarly, prediction of mutation status with gene lists derived using Support Vector Machines was good for BRCAX samples without an LCS variant (82-94%, poor for BRCAX with an LCS (40-50%, and improved for pathogenic BRCA1/2 mutation carriers when the gene list used for prediction was appropriate to mutation effect being tested (71-100%. This study indicates that mutation effect, and presence of rare variants possibly associated with a low risk of cancer, must be considered in the development of array-based assays of variant pathogenicity.

  19. The influence of (central) auditory processing disorder in speech sound disorders.

    Science.gov (United States)

    Barrozo, Tatiane Faria; Pagan-Neves, Luciana de Oliveira; Vilela, Nadia; Carvallo, Renata Mota Mamede; Wertzner, Haydée Fiszbein

    2016-01-01

    Considering the importance of auditory information for the acquisition and organization of phonological rules, the assessment of (central) auditory processing contributes to both the diagnosis and targeting of speech therapy in children with speech sound disorders. To study phonological measures and (central) auditory processing of children with speech sound disorder. Clinical and experimental study, with 21 subjects with speech sound disorder aged between 7.0 and 9.11 years, divided into two groups according to their (central) auditory processing disorder. The assessment comprised tests of phonology, speech inconsistency, and metalinguistic abilities. The group with (central) auditory processing disorder demonstrated greater severity of speech sound disorder. The cutoff value obtained for the process density index was the one that best characterized the occurrence of phonological processes for children above 7 years of age. The comparison among the tests evaluated between the two groups showed differences in some phonological and metalinguistic abilities. Children with an index value above 0.54 demonstrated strong tendencies towards presenting a (central) auditory processing disorder, and this measure was effective to indicate the need for evaluation in children with speech sound disorder. Copyright © 2015 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  20. Social network influences on technology acceptance : A matter of tie strength, centrality and density

    NARCIS (Netherlands)

    Ten Kate, Stephan; Haverkamp, Sophie; Mahmood, Fariha; Feldberg, Frans

    2010-01-01

    This study examines social network influences on the individual technology acceptance. Since it is believed that individuals' trust, opinions and behavior are influenced by their network, an analysis of that network may help to provide some explanations on technology acceptance. However, since

  1. Influence of the Nazaré Canyon, central Portuguese margin, on late winter coccolithophore assemblages

    NARCIS (Netherlands)

    Guerreiro, C.; Sá, C.; de Stigter, H.; Oliveira, A.; Cachão, M.; Cros, L.; Borges, C.; Quaresma, L.; Santos, A.I.; Fortuño, J.-M.; Rodrigez, A.

    2014-01-01

    This paper presents a first attempt to characterize coccolithophore assemblages occurring in the context of an active submarine canyon. Coccolithophores from the upper-middle sections of the Nazaré Canyon (central Portuguese margin) – one of the largest canyons of the European continental margin –

  2. Depression Amplifies the Influence of Central Obesity on 10-Year Incidence of Diabetes: Findings from MIDUS.

    Directory of Open Access Journals (Sweden)

    Vera K Tsenkova

    Full Text Available Central obesity is a major risk factor for diabetes but many obese individuals never develop diabetes, suggesting the presence of important effect modifiers. Depression has emerged as a key risk factor for poor glycemic control, but to our knowledge, no previous work has investigated whether depression amplifies the effect of central obesity on glucoregulation.We used a national sample of adults without prevalent diabetes (MIDUS; N = 919 to test for synergy between central obesity and depression in the development of diabetes 10 years later. We found that depression amplified the association of waist-to-hip ratio (WHR with incident diabetes adjusted for age, race, gender, education, physical activity, and sleep problems (p = 0.01 for test of interaction. The relative risk for incident diabetes per every 0.1 increment in WHR was 1.75 (95% CI: 1.31; 2.33 in those without depression and 3.78 in those with depression (95% CI: 2.14; 6.66.These results confirm the role of depression as a robust risk factor for the development of diabetes and for the first time, demonstrate a synergy between depression and central obesity. Identifying and addressing depression could prove to be an effective approach to preventing diabetes in at risk individuals. Ultimately, elucidating the interplay among risk factors from different domains will be key to understanding multifactorial diseases such as diabetes and informing theory-based, patient-centered interventions aimed at reducing diabetes risk.

  3. Factors influencing organic-horizon carbon pools in mixed-species stands of central Maine, USA

    Science.gov (United States)

    Joshua J. Puhlick; Shawn Fraver; Ivan J. Fernandez; Aaron R. Weiskittel; Laura S. Kenefic; Randy Kolka; Marie-Cecile Gruselle

    2016-01-01

    The overall goal of this study was to evaluate the correlation of multiple abiotic and biotic factors with organic-horizon (O-horizon) carbon (C) content on the Penobscot Experimental Forest in central Maine, USA. O-horizon samples were collected and their associated depths were recorded from stands managed with a range of silvicultural and harvesting treatments (i.e...

  4. Chloroplast DNA variation of oaks in western Central Europe and genetic consequences of human influences

    NARCIS (Netherlands)

    König, A.O.; Ziegenhagen, B.; Dam, van B.C.; Csaikl, U.M.; Coart, E.; Degen, B.; Burg, K.; Vries, de S.M.G.; Petit, R.J.

    2002-01-01

    Oak chloroplast DNA (cpDNA) variation was studied in a grid-based inventory in western Central Europe, including Belgium, The Netherlands, Luxembourg, Germany, the Czech Republic, and the northern parts of Upper and Lower Austria. A total of 2155 trees representing 426 populations of Quercus robur

  5. Influence of Central Obesity Assessed by Conicity Index on Lung Age in Young Adults.

    Science.gov (United States)

    Shenoy, Usha; Jagadamba

    2017-04-01

    Central obesity is an emerging public health problem in young adults which compromises lung mechanics. Conicity Index (CI) is a simple anthropometric measure to assess central adiposity. The concept of lung age relates to a person's current lung function at which his/her lung function would be considered abnormal in relation to the present actual age. To determine the effect of central obesity by CI on lung age in young adults. A total of 319 young adults in the age group 18-25 years were recruited for this cross-sectional observational study. Written informed consent and Institutional Ethical Clearance (IEC) approval were obtained. Anthropometric parameters were measured and CI was calculated using the following formula: CI = Waist Circumference (WC) (m)/ [0.109 X√ {Bodyweight (kg)/ Height (m)}] where 0.109 is a constant. Spirometry was performed and all the lung volumes and capacities were obtained. There was a significant increase in mean values of CI in obese young adults compared to non obese (1.36±0.15 and 1.16±0.08, pobesity on lung age in young adults was compared using an independent t-test. Mean of lung age was significantly higher in centrally obese young adults compared to non obese 23.87±3.03 and 21.30±2.6, pobese young adults compared to non obese. Hence, lung age can be used as a potential psychological tool to show an individual with central obesity that there is premature aging of their lungs.

  6. Influence of MR imaging on the central body temperature and peripheral temperature in humans

    International Nuclear Information System (INIS)

    Vogl, T.; Krimmel, K.; Dopmeier, D.; Seiderer, M.; Lissner, J.

    1986-01-01

    Thermal effects of in vitro and in vivo MR imaging were studied at different field strengths (0.35 T, 1.5 T) and radio frequency power, using a modified fluoroptical technique. A fiber optic probe that measures with an accuracy of up to 0.1 0 C was inserted via esophageal and rectal tubes in 20 test subjects to measure central body temperature. In another ten subjects the temperature was measured subcutaneously and by an intravenous catheter system. No significant temperature change was measurable in the central parts of the body (rectum, esophagus) within the static magnetic field and during MR imaging. Subcutaneous and intravenous measurements of the superficial temperature of the arm led to the same conclusions. Theoretical calculations of the absorbed energy confirm these findings

  7. The influence of diabetic peripheral neuropathy on local postural muscle and central sensory feedback balance control.

    Science.gov (United States)

    Toosizadeh, Nima; Mohler, Jane; Armstrong, David G; Talal, Talal K; Najafi, Bijan

    2015-01-01

    Poor balance control and increased fall risk have been reported in people with diabetic peripheral neuropathy (DPN). Traditional body sway measures are unable to describe underlying postural control mechanism. In the current study, we used stabilogram diffusion analysis to examine the mechanism under which balance is altered in DPN patients under local-control (postural muscle control) and central-control (postural control using sensory cueing). DPN patients and healthy age-matched adults over 55 years performed two 15-second Romberg balance trials. Center of gravity sway was measured using a motion tracker system based on wearable inertial sensors, and used to derive body sway and local/central control balance parameters. Eighteen DPN patients (age = 65.4±7.6 years; BMI = 29.3±5.3 kg/m2) and 18 age-matched healthy controls (age = 69.8±2.9; BMI = 27.0±4.1 kg/m2) with no major mobility disorder were recruited. The rate of sway within local-control was significantly higher in the DPN group by 49% (healthy local-controlslope = 1.23±1.06×10-2 cm2/sec, Pcontrol balance behavior in DPN patients. Unlike local-control, the rate of sway within central-control was 60% smaller in the DPN group (healthy central-controlslope-Log = 0.39±0.23, Pcontrol rate of sway with neuropathy severity (rPearson = 0.65-085, Pcontrols. However, as soon as they perceived the magnitude of sway using sensory feedback, they chose a high rigid postural control strategy, probably due to high concerns for fall, which may increase the energy cost during extended period of standing; the adaptation mechanism using sensory feedback depends on the level of neuropathy and the history of diabetes.

  8. Acid mine drainage from the Panasqueira mine and its influence on Zêzere river (Central Portugal)

    OpenAIRE

    Candeias, Carla; Ávila, Paula Freire; Silva, Eduardo Ferreira da; Ferreira, Adelaide; Salgueiro, Ana Rita; Teixeira, João Paulo

    2014-01-01

    Available online 25 October 2013 The Panasqueira hydrothermal mineralization, located in central Portugal, is the biggest Sn–W deposit of the Western Europe. The main evidences of the mining exploitation and ore treatment operations are testified with huge tailings, mainly, in the Rio and Barroca Grande areas. The mining and beneficiation processes, at the site, produces metal rich mine wastes. Oxidation of sulfides tailings and flow from open impoundments are responsible for the m...

  9. MODELING POLLINATION FACTORS THAT INFLUENCE ALFALFA SEED YIELD IN NORTH-CENTRAL NEVADA

    OpenAIRE

    BREAZEALE, Don; FERNANDEZ, George; NARAYANAN, Rangesan

    2008-01-01

    The relative importance of both environmental and management factors on alfalfa seed yield was investigated on North–Central Nevada farms. Multiple linear regression models using 2002-2003 data revealed that cumulative tripped fl owers increased seed yield in both years. Field location does not appear to make a difference in the observed variation in tripped fl ower production. The results suggest that seed yield can be increased by (a) by placing bee shelters closer and (b) cultural practice...

  10. A rare variant P507L in TPP1 interrupts TPP1-TIN2 interaction, influences telomere length, and confers colorectal cancer risk in Chinese population.

    Science.gov (United States)

    Li, Jiaoyuan; Chang, Jiang; Tian, Jianbo; Ke, Juntao; Zhu, Ying; Yang, Yang; Gong, Yajie; Zou, Danyi; Peng, Xiating; Yang, Nan; Mei, Shufang; Wang, Xiaoyang; Cheng, Liming; Hu, Weiguo; Gong, Jing; Zhong, Rong; Miao, Xiaoping

    2018-06-11

    Telomere dysfunction triggers cellular senescence and constitutes a driving force for cancer initiation. Genetic variants in genes involved in telomere maintenance may contribute to colorectal cancer (CRC) susceptibility. In this study, we firstly captured germline mutations in 192 CRC patients by sequencing the coding regions of 13 core components implicated in telomere biology. Five potential functional variants were then genotyped and assessed in a case-control set with 3,761 CRC cases and 3,839 healthy controls. The promising association was replicated in additional 6,765 cases and 6,906 controls. Functional experiments were used to further clarify the potential function of the significant variant and uncover the underlying mechanism in CRC development. The two-stage association studies showed that a rare missense variant rs149418249 (c.C1520T, p.P507L) in the 11th exon of TPP1 (also known as ACD, gene ID 65057) was significantly associated with CRC risk with the ORs being 2.90 (95% CI:1.04-8.07, P=0.041), 2.50 (95% CI:1.04-6.04, P=0.042), and 2.66 (95%CI:1.36-5.18, P=0.004) in discovery, replication, and the combined samples, respectively. Further functional annotation indicated that the TPP1 P507L substitution interrupted TPP1-TIN2 interaction, impaired telomerase processivity, and shortened telomere length, which subsequently facilitated cell proliferation and promoted CRC development. A rare variant P507L in TPP1 confers increased risk of CRC through interrupting TPP1-TIN2 interaction, impairing telomerase processivity, and shrinking telomere length. These findings emphasize the important role of telomere dysfunction in CRC development, and provide new insights about the prevention of this type of cancer. Copyright ©2018, American Association for Cancer Research.

  11. Somatic cancer variant curation and harmonization through consensus minimum variant level data

    Directory of Open Access Journals (Sweden)

    Deborah I. Ritter

    2016-11-01

    Full Text Available Abstract Background To truly achieve personalized medicine in oncology, it is critical to catalog and curate cancer sequence variants for their clinical relevance. The Somatic Working Group (WG of the Clinical Genome Resource (ClinGen, in cooperation with ClinVar and multiple cancer variant curation stakeholders, has developed a consensus set of minimal variant level data (MVLD. MVLD is a framework of standardized data elements to curate cancer variants for clinical utility. With implementation of MVLD standards, and in a working partnership with ClinVar, we aim to streamline the somatic variant curation efforts in the community and reduce redundancy and time burden for the interpretation of cancer variants in clinical practice. Methods We developed MVLD through a consensus approach by i reviewing clinical actionability interpretations from institutions participating in the WG, ii conducting extensive literature search of clinical somatic interpretation schemas, and iii survey of cancer variant web portals. A forthcoming guideline on cancer variant interpretation, from the Association of Molecular Pathology (AMP, can be incorporated into MVLD. Results Along with harmonizing standardized terminology for allele interpretive and descriptive fields that are collected by many databases, the MVLD includes unique fields for cancer variants such as Biomarker Class, Therapeutic Context and Effect. In addition, MVLD includes recommendations for controlled semantics and ontologies. The Somatic WG is collaborating with ClinVar to evaluate MVLD use for somatic variant submissions. ClinVar is an open and centralized repository where sequencing laboratories can report summary-level variant data with clinical significance, and ClinVar accepts cancer variant data. Conclusions We expect the use of the MVLD to streamline clinical interpretation of cancer variants, enhance interoperability among multiple redundant curation efforts, and increase submission of

  12. The influence of diabetic peripheral neuropathy on local postural muscle and central sensory feedback balance control.

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    Nima Toosizadeh

    Full Text Available Poor balance control and increased fall risk have been reported in people with diabetic peripheral neuropathy (DPN. Traditional body sway measures are unable to describe underlying postural control mechanism. In the current study, we used stabilogram diffusion analysis to examine the mechanism under which balance is altered in DPN patients under local-control (postural muscle control and central-control (postural control using sensory cueing. DPN patients and healthy age-matched adults over 55 years performed two 15-second Romberg balance trials. Center of gravity sway was measured using a motion tracker system based on wearable inertial sensors, and used to derive body sway and local/central control balance parameters. Eighteen DPN patients (age = 65.4±7.6 years; BMI = 29.3±5.3 kg/m2 and 18 age-matched healthy controls (age = 69.8±2.9; BMI = 27.0±4.1 kg/m2 with no major mobility disorder were recruited. The rate of sway within local-control was significantly higher in the DPN group by 49% (healthy local-controlslope = 1.23±1.06×10-2 cm2/sec, P<0.01, which suggests a compromised local-control balance behavior in DPN patients. Unlike local-control, the rate of sway within central-control was 60% smaller in the DPN group (healthy central-controlslope-Log = 0.39±0.23, P<0.02, which suggests an adaptation mechanism to reduce the overall body sway in DPN patients. Interestingly, significant negative correlations were observed between central-control rate of sway with neuropathy severity (rPearson = 0.65-085, P<0.05 and the history of diabetes (rPearson = 0.58-071, P<0.05. Results suggest that in the lack of sensory feedback cueing, DPN participants were highly unstable compared to controls. However, as soon as they perceived the magnitude of sway using sensory feedback, they chose a high rigid postural control strategy, probably due to high concerns for fall, which may increase the energy cost during extended period of standing; the adaptation

  13. Anthropogenic influence on recent bathymetric change in west-central San Francisco Bay

    Science.gov (United States)

    Barnard, Patrick L.; Kvitek, Rikk G.

    2010-01-01

    Two multibeam sonar surveys of west-central San Francisco Bay, California, were conducted in 1997 and 2008. Bathymetric change analysis between the two surveys indicates a loss of 14.1 million cubic meters (-3.1 cm/yr-1) of sediment during this time period, representing an approximately three-fold acceleration of the rate that was observed from prior depth change analysis from 1947 to 1979 for all of Central Bay, using more spatially coarse National Ocean Service (NOS) soundings. The portions of the overlapping survey areas between 1997 and 2008 designated as aggregate mining lease sites lost sediment at five times the rate of the remainder of west-central San Francisco Bay. Despite covering only 28% of the analysis area, volume change within leasing areas accounted for 9.2 million cubic meters of sediment loss, while the rest of the area lost 4.9 million cubic meters of sediment. The uncertainty of this recent analysis is more tightly constrained due to more stringent controls on vertical and horizontal position via tightly coupled, inertially aided differential Global Positioning Systems (GPS) solutions for survey vessel trajectory that virtually eliminate inaccuracies from traditional tide modeling and vessel motion artifacts. Further, quantification of systematic depth measurement error can now be calculated through comparison of static surfaces (e.g., bedrock) between surveys using seafloor habitat maps based on acoustic backscatter measurements and ground-truthing with grab samples and underwater video. Sediment loss in the entire San Francisco Bay Coastal System during the last half-century,as estimated from a series of bathymetric change studies, is 240 million cubic meters, and most of this is believed to be coarse sediment (i.e., sand and gravel) from Central Bay and the San Francisco Bar, which is likely to limit the sand supply to adjacent, open-coast beaches. This hypothesis is supported by a calibrated numerical model in a related study that indicates

  14. Influence of national centralization of oesophagogastric cancer on management and clinical outcome from emergency upper gastrointestinal conditions.

    Science.gov (United States)

    Markar, S R; Mackenzie, H; Wiggins, T; Askari, A; Karthikesalingam, A; Faiz, O; Griffin, S M; Birkmeyer, J D; Hanna, G B

    2018-01-01

    In England in 2001 oesophagogastric cancer surgery was centralized. The aim of this study was to evaluate whether centralization of oesophagogastric cancer to high-volume centres has had an effect on mortality from different emergency upper gastrointestinal conditions. The Hospital Episode Statistics database was used to identify patients admitted to hospitals in England (1997-2012). The influence of oesophagogastric high-volume cancer centre status (20 or more resections per year) on 30- and 90-day mortality from oesophageal perforation, paraoesophageal hernia and perforated peptic ulcer was analysed. Over the study interval, 3707, 12 441 and 56 822 patients with oesophageal perforation, paraoesophageal hernia and perforated peptic ulcer respectively were included. There was a passive centralization to high-volume cancer centres for oesophageal perforation (26·9 per cent increase), paraoesophageal hernia (19·5 per cent increase) and perforated peptic ulcer (23·0 per cent increase). Management of oesophageal perforation in high-volume centres was associated with a reduction in 30-day (HR 0·58, 95 per cent c.i. 0·45 to 0·74) and 90-day (HR 0·62, 0·49 to 0·77) mortality. High-volume cancer centre status did not affect mortality from paraoesophageal hernia or perforated peptic ulcer. Annual emergency admission volume thresholds at which mortality improved were observed for oesophageal perforation (5 patients) and paraoesophageal hernia (11). Following centralization, the proportion of patients managed in high-volume cancer centres that reached this volume threshold was 88·0 per cent for oesophageal perforation, but only 30·3 per cent for paraoesophageal hernia. Centralization of low incidence conditions such as oesophageal perforation to high-volume cancer centres provides a greater level of expertise and ultimately reduces mortality. © 2017 BJS Society Ltd Published by John Wiley & Sons Ltd.

  15. Influence of geology on arsenic concentrations in ground and surface water in central Lesvos, Greece.

    Science.gov (United States)

    Aloupi, Maria; Angelidis, Michael O; Gavriil, Apostolos M; Koulousaris, Michael; Varnavas, Soterios P

    2009-04-01

    The occurrence of As was studied in groundwater used for human consumption and irrigation, in stream water and sediments and in water from thermal springs in the drainage basin of Kalloni Gulf, island of Lesvos, Greece, in order to investigate the potential influence of the geothermal field of Polichnitos-Lisvori on the ground and surface water systems of the area. Total dissolved As varied in the range geology exerts a determinant influence on As geochemical behaviour. On the other hand, the geothermal activity manifested in the area of Polichnitos-Lisvori does not affect the presence of As in groundwater and streams.

  16. The influence of central corneal thickness and age on intraocular pressure measured by pneumotonometry, non-contact tonometry, the Tono-Pen XL, and Goldmann applanation tonometry

    OpenAIRE

    Tonnu, P-A; Ho, T; Newson, T; El Sheikh, A; Sharma, K; White, E; Bunce, C; Garway-Heath, D

    2005-01-01

    Aims: To evaluate the influence of central corneal thickness (CCT) on intraocular pressure (IOP) measurements made with the Goldmann applanation tonometer (GAT), Tono-Pen XL, ocular blood flow tonograph (OBF), and Canon TX-10 non-contact tonometer (NCT).

  17. Influence of the Yellow Sea Warm Current on phytoplankton community in the central Yellow Sea

    Science.gov (United States)

    Liu, Xin; Chiang, Kuo-Ping; Liu, Su-Mei; Wei, Hao; Zhao, Yuan; Huang, Bang-Qin

    2015-12-01

    In early spring, a hydrological front emerges in the central Yellow Sea, resulting from the intrusion of the high temperature and salinity Yellow Sea Warm Current (YSWC). The present study, applying phytoplankton pigments and flow cytometry measurements in March of 2007 and 2009, focuses on the biogeochemical effects of the YSWC. The nutrients fronts were coincident with the hydrological front, and a positive linear relationship between nitrate and salinity was found in the frontal area. This contrast with the common situation of coastal waters where high salinity values usually correlate with poor nutrients. We suggested nutrient concentrations of the YSWC waters might have been enhanced by mixing with the local nutrient-rich waters when it invaded the Yellow Sea from the north of the Changjiang estuary. In addition, our results indicate that the relative abundance of diatoms ranged from 26% to 90%, showing a higher value in the YSCC than in YSWC waters. Similar distributions were found between diatoms and dinoflagellates, however the cyanobacteria and prasinophytes showed an opposite distribution pattern. Good correlations were found between the pigments and flow cytometry observations on the picophytoplankton groups. Prasinophytes might be the major contributor to pico-eukaryotes in the central Yellow Sea as similar distributional patterns and significant correlations between them. It seems that the front separates the YSWC from the coastal water, and different phytoplankton groups are transported in these water masses and follow their movement. These results imply that the YSWC plays important roles in the distribution of nutrients, phytoplankton biomass and also in the community structure of the central Yellow Sea.

  18. The influence of mechanical vibration on local and central balance control.

    Science.gov (United States)

    Ehsani, Hossein; Mohler, Jane; Marlinski, Vladimir; Rashedi, Ehsan; Toosizadeh, Nima

    2018-04-11

    Fall prevention has an indispensable role in enhancing life expectancy and quality of life among older adults. The first step to prevent falls is to devise reliable methods to identify individuals at high fall risk. The purpose of the current study was to assess alterations in local postural muscle and central sensory balance control mechanisms due to low-frequency externally applied vibration among elders at high fall risk, in comparison with healthy controls, as a potential tool for assessing fall risk. Three groups of participants were recruited: healthy young (n = 10; age = 23 ± 2 years), healthy elders (n = 10; age = 73 ± 3 years), and elders at high fall risk (n = 10; age = 84 ± 9 years). Eyes-open and eyes-closed upright standing balance performance was measured with no vibration, 30 Hz, and 40 Hz vibration of Gastrocnemius muscles. When vibratory stimulation was applied, changes in local-control performance manifested significant differences among the groups (p fall risk participants when compared to healthy young and older adults, respectively. On the other hand, vibration-induced changes in the central-control performance were not significant between groups (p ≥ 0.19). Results suggest that local-control deficits are responsible for balance behavior alterations among elders at high fall risk and healthy individuals. This observation may be attributable to deterioration of short-latency reflexive loop in elders at high fall risk. On the other hand, we could not ascribe the balance alterations to problems related to central nervous system performance or long-latency responses. Copyright © 2018 Elsevier Ltd. All rights reserved.

  19. Central Obesity and H. pylori Infection Influence Risk of Barrett's Esophagus in an Asian Population.

    Directory of Open Access Journals (Sweden)

    Chih-Cheng Chen

    Full Text Available The prevalence rates of Barrett's esophagus (BE in western countries are higher than Asian ones, but little is known about their difference among risk factors of BE. The aim of this study is to investigate the associations of various risk factors including central obesity, body mass index (BMI, metabolic syndrome and H. pylori infection, with BE.A total of 161 subjects with BE were enrolled and compared to age- and gender-matched controls randomly sampled (1:4 from check-up center in same hospital. Central obesity was defined by waist circumference (female>80cm; male>90cm, metabolic syndrome by the modified National Cholesterol Education Program Adult Treatment Panel III criteria in Taiwan. Independent risk factors for BE were identified by multiple logistic regression analyses.The mean age for BE was 53.8±13.7 years and 75.8% was male. H. pylori infection status was detected by the rapid urease test with the prevalence of 28.4% and 44.4% in the BE patients and controls, respectively. The univariate logistic regression analyses showed the risk was associated with higher waist circumference (odds ratio [OR], 2.53; 95% confidence interval [CI], 1.78-3.60, metabolic syndrome (OR, 2.02; 95% CI, 1.38-2.96 and negative H. pylori infection (OR, 0.50; 95% CI, 0.34-0.74. However, multivariate logistic regression analyses revealed that BE associated with higher waist circumference (adjusted OR, 2.79; 95% CI, 1.89-4.12 and negative H. pylori infection (adjusted OR, 0.46; 95% CI, 0.30-0.70.Central obesity is associated with a higher risk of BE whereas H. pylori infection with a lower risk in an ethnic Chinese population.

  20. Catheter Occlusion in Home Infusion: The Influence of Needleless Connector Design on Central Catheter Occlusion.

    Science.gov (United States)

    Williams, Ann

    Thrombotic catheter occlusion is a common complication associated with central venous catheters (CVCs). A wide variety of needleless connectors that differ greatly in design and function are available for use with CVCs; however, there are a limited number of studies comparing the catheter occlusion rate associated with differently designed needleless connectors. This retrospective observational study compared occlusion rates associated with a split-septum neutral-displacement needleless connector versus those of a solid-surface neutral-reflux needleless connector in patients undergoing home infusion therapy. The neutral-reflux needleless connector was associated with a significant reduction in occlusion rate and thrombolytic use versus the neutral-displacement needleless connector.

  1. Vegetation, topography and daily weather influenced burn severity in central Idaho and western Montana forests

    Science.gov (United States)

    Donovan S. Birch; Penelope Morgan; Crystal A. Kolden; John T. Abatzoglou; Gregory K. Dillon; Andrew T. Hudak; Alistair M. S. Smith

    2015-01-01

    Burn severity as inferred from satellite-derived differenced Normalized Burn Ratio (dNBR) is useful for evaluating fire impacts on ecosystems but the environmental controls on burn severity across large forest fires are both poorly understood and likely to be different than those influencing fire extent. We related dNBR to environmental variables including vegetation,...

  2. ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study.

    Science.gov (United States)

    Papadimitriou, Ioannis D; Lucia, Alejandro; Pitsiladis, Yannis P; Pushkarev, Vladimir P; Dyatlov, Dmitry A; Orekhov, Evgeniy F; Artioli, Guilherme G; Guilherme, João Paulo L F; Lancha, Antonio H; Ginevičienė, Valentina; Cieszczyk, Pawel; Maciejewska-Karlowska, Agnieszka; Sawczuk, Marek; Muniesa, Carlos A; Kouvatsi, Anastasia; Massidda, Myosotis; Calò, Carla Maria; Garton, Fleur; Houweling, Peter J; Wang, Guan; Austin, Krista; Druzhevskaya, Anastasiya M; Astratenkova, Irina V; Ahmetov, Ildus I; Bishop, David J; North, Kathryn N; Eynon, Nir

    2016-04-13

    To date, studies investigating the association between ACTN3 R577X and ACE I/D gene variants and elite sprint/power performance have been limited by small cohorts from mixed sport disciplines, without quantitative measures of performance. To examine the association between these variants and sprint time in elite athletes. We collected a total of 555 best personal 100-, 200-, and 400-m times of 346 elite sprinters in a large cohort of elite Caucasian or African origin sprinters from 10 different countries. Sprinters were genotyped for ACTN3 R577X and ACE ID variants. On average, male Caucasian sprinters with the ACTN3 577RR or the ACE DD genotype had faster best 200-m sprint time than their 577XX (21.19 ± 0.53 s vs. 21.86 ± 0.54 s, p = 0.016) and ACE II (21.33 ± 0.56 vs. 21.93 ± 0.67 sec, p = 0.004) counterparts and only one case of ACE II, and no cases of ACTN3 577XX, had a faster 200-m time than the 2012 London Olympics qualifying (vs. 12 qualified sprinters with 577RR or 577RX genotype). Caucasian sprinters with the ACE DD genotype had faster best 400-m sprint time than their ACE II counterparts (46.94 ± 1.19 s vs. 48.50 ± 1.07 s, p = 0.003). Using genetic models we found that the ACTN3 577R allele and ACE D allele dominant model account for 0.92 % and 1.48 % of sprint time variance, respectively. Despite sprint performance relying on many gene variants and environment, the % sprint time variance explained by ACE and ACTN3 is substantial at the elite level and might be the difference between a world record and only making the final.

  3. Lithological Influences on Occurrence of High-Fluoride Waters in The Central Kenya Rift

    Science.gov (United States)

    Olaka, L. A.; Musolff, A.; Mulch, A.; Olago, D.; Odada, E. O.

    2013-12-01

    Within the East African rift, groundwater recharge results from the complex interplay of geology, land cover, geomorphology, climate and on going volcano-tectonic processes across a broad range of spatial and temporal scales. The interrelationships between these factors create complex patterns of water availability, reliability and quality. The hydrochemical evolution of the waters is further complex due to the different climatic regimes and geothermal processes going on in this area. High fluoridic waters within the rift have been reported by few studies, while dental fluorosis is high among the inhabitants of the rift. The natural sources of fluoride in waters can be from weathering of fluorine bearing minerals in rocks, volcanic or fumarolic activities. Fluoride concentration in water depends on a number of factors including pH, temperature, time of water-rock formation contact and geochemical processes. Knowledge of the sources and dispersion of fluoride in both surface and groundwaters within the central Kenya rift and seasonal variations between wet and dry seasons is still poor. The Central Kenya rift is marked by active tectonics, volcanic activity and fumarolic activity, the rocks are majorly volcanics: rhyolites, tuffs, basalts, phonolites, ashes and agglomerates some are highly fractured. Major NW-SE faults bound the rift escarpment while the rift floor is marked by N-S striking faults We combine petrographic, hydrochemistry and structural information to determine the sources and enrichment pathways of high fluoridic waters within the Naivasha catchment. A total of 120 water samples for both the dry season (January-February2012) and after wet season (June-July 2013) from springs, rivers, lakes, hand dug wells, fumaroles and boreholes within the Naivasha catchment are collected and analysed for fluoride, physicochemical parameters and stable isotopes (δ2 H, δ18 O) in order to determine the origin and evolution of the waters. Additionally, 30 soil and

  4. Influences of deglaciation on the river run-off in Central Asia

    Directory of Open Access Journals (Sweden)

    G. E. Glazyrin

    2013-01-01

    Full Text Available Glaciers form a great deal of runoff of rivers in Central Asia. It is clear that amount of melted water directly depends on total area of glaciers in the river basins – their glaciation. It is well known that at present the area quickly reduces. The complete inventory of glaciers was performed in former Soviet Union in the middle of last century. Airphoto images were used as a basis for our calculations. The inventory was repeated later for several river basins using airphoto- and space images. Unfortunately only three inventories is performed in several river basins for the last half of XX century. Amount of water, coming to a river network from glaciers, can be divided into two parts. The first is usual annual melting. It exists under stationary glaciation condition. The second, being part of the first, is caused by reduction of the glaciation volume. It can be negative in some years when glaciers volume is increasing as a result of favorable meteorological conditions. In these cases the part of water containing in seasonal snow cover does not go to river network. Two components of the glacial feeding were calculated for six rivers located in various regions of Central Asia. It is shown that present day glaciers reduction does not lead to disastrous consequences for river run-off. It leads only to the changes of annual distribution in the run-off. The results should be considered as preliminary because of low accuracy of hydrometeorolological data and number of admissions during calculation.

  5. Environmental and spatial factors influencing the distribution of cladocerans in lakes across the central Canadian Arctic treeline region

    Directory of Open Access Journals (Sweden)

    John P. SMOL

    2010-02-01

    Full Text Available We examine the role of local environmental and spatial factors in explaining variation in the composition of cladoceran assemblages from surface sediments within a set of 50 lakes spanning a broad southwest to northeast transect across the central Canadian Arctic treeline region from Yellowknife (Northwest Territories to the northern boundary of the Thelon Game Sanctuary (Nunavut Territory. Within each lake, the cladoceran fauna was identified based on the subfossil exoskeletal remains preserved in recently deposited lake sediments. Physical and chemical limnological data were measured in August of 1996 and 1998. Spatial data were generated based on latitude and longitude using Principal Coordinates of Neighbors Matrices analysis (PCNM. The relationships between cladocerans and the measured environmental and spatial variables were examined using both unconstrained (Principal Components Analysis, PCA and constrained (Redundancy Analysis, RDA ordination techniques. Variance partitioning, based on partial RDAs, was used to identify the relative importance of significant environmental and spatial explanatory variables. Three environmental variables were identified as significantly influencing cladoceran community structure: surface water temperature, dissolved organic carbon (DOC, and total phosphorus (TP. Five PCNM-generated spatial variables were also significant in explaining cladoceran distributions. Variance partitioning attributed 14% of the variance in the distribution of Cladocera to spatial factors, an additional 10% to spatially-structured environmental variables, and 8% to environmental factors that were not spatially-structured. Within the central Canadian Arctic treeline region, spatial and other environmental processes had an important influence on the distribution of cladoceran communities. The strong influence of spatial factors was related to the large ecoclimatic gradient across treeline. The distribution patterns of cladocerans

  6. Whole-body hypothermia has central and peripheral influences on elbow flexor performance.

    Science.gov (United States)

    Cahill, Farrell; Kalmar, Jayne M; Pretorius, Thea; Gardiner, Phillip F; Giesbrecht, Gordon G

    2011-05-01

    The superimposed twitch technique was used to study the effect of whole-body hypothermia on maximal voluntary activation of elbow flexors. Seven subjects [26.4 ± 4 years old (mean ± SD)] were exposed to 60 min of either immersion in 8°C water (hypothermia) or sitting in 22°C air (control). Voluntary activation was assessed during brief (3 s) maximal voluntary contractions (MVCs) and then during a 2 min fatiguing sustained MVC. Hypothermia (core temperature 34.8 ± 0.9°C) decreased maximal voluntary torque from 98.2 ± 1.0 to 82.8 ± 5.8% MVC (P < 0.001) and increased central conduction time from 7.9 ± 0.4 to 9.1 ± 0.7 ms (P < 0.05). Hypothermia also decreased maximal resting twitch amplitude from 17.6 ± 4.0 to 10.0 ± 1.7% MVC (P < 0.005) and increased the time-to-peak twitch tension from 55.4 ± 4.0 to 79.0 ± 11.7 ms (P < 0.001). During the 2 min contraction, hypothermia decreased initial torque (P < 0.01) but attenuated the subsequent rate of torque decline (control from 95.5 ± 4 to 29.4 ± 8% MVC; and hypothermia from 85.3 ± 8 to 37.3 ± 5% MVC; P < 0.01). Cortical superimposed twitches increased as fatigue developed but were always lower in the hypothermic conditions. Cortical superimposed twitches increased from a value of 0.4 ± 0.3% MVC prefatigue to 3.9 ± 1.4% MVC postfatigue (P < 0.001) in the hypothermic conditions and from 1.7 ± 0.9 to 5.5 ± 2.3% MVC in control conditions. Our results suggest that hypothermia decreases MVCs primarily via peripheral mechanisms and attenuates the rate of fatigue development by reducing central fatigue.

  7. Connectivity of tiger (Panthera tigris) populations in the human-influenced forest mosaic of Central India.

    Science.gov (United States)

    Joshi, Aditya; Vaidyanathan, Srinivas; Mondol, Samrat; Edgaonkar, Advait; Ramakrishnan, Uma

    2013-01-01

    Today, most wild tigers live in small, isolated Protected Areas within human dominated landscapes in the Indian subcontinent. Future survival of tigers depends on increasing local population size, as well as maintaining connectivity between populations. While significant conservation effort has been invested in increasing tiger population size, few initiatives have focused on landscape-level connectivity and on understanding the effect different landscape elements have on maintaining connectivity. We combined individual-based genetic and landscape ecology approaches to address this issue in six protected areas with varying tiger densities and separation in the Central Indian tiger landscape. We non-invasively sampled 55 tigers from different protected areas within this landscape. Maximum-likelihood and Bayesian genetic assignment tests indicate long-range tiger dispersal (on the order of 650 km) between protected areas. Further geo-spatial analyses revealed that tiger connectivity was affected by landscape elements such as human settlements, road density and host-population tiger density, but not by distance between populations. Our results elucidate the importance of landscape and habitat viability outside and between protected areas and provide a quantitative approach to test functionality of tiger corridors. We suggest future management strategies aim to minimize urban expansion between protected areas to maximize tiger connectivity. Achieving this goal in the context of ongoing urbanization and need to sustain current economic growth exerts enormous pressure on the remaining tiger habitats and emerges as a big challenge to conserve wild tigers in the Indian subcontinent.

  8. The influence of mistletoes on birds in an agricultural landscape of central Mexico

    Science.gov (United States)

    Zuria, Iriana; Castellanos, Ignacio; Gates, J. Edward

    2014-11-01

    Mistletoes are hemiparasitic flowering plants that function as keystone resources in forests and woodlands of temperate regions, where a positive relationship between mistletoe density and avian species richness has been observed. Mistletoes have been less studied in tropical regions and the relationship between birds and mistletoes has seldom been explored in tropical agricultural systems. Therefore, we studied the presence of infected trees and infection prevalence (i.e., number of parasitized trees/total number of trees) by Psittacanthus (Loranthaceae) mistletoes in 23 hedgerows located in an agricultural landscape of central Mexico during the dry and rainy seasons, and investigated the relationship between bird species richness and abundance and the abundance of mistletoes. We found a mean of 74 mistletoe plants per 100-m transect of only one species, Psittacanthus calyculatus. Thirty-one percent of the trees surveyed were infected and tree species differed in infection prevalence, mesquite (Prosopis laevigata) being the most infected species with 86% of the surveyed trees infected. For both seasons, we found a positive and significant association between bird species richness and number of mistletoe plants. The same pattern was observed for total bird abundance. Many resident and Neotropical migratory birds were observed foraging on mistletoes. Our results show that mistletoes are important in promoting a higher bird species richness and abundance in tropical agricultural landscapes.

  9. Factors that influence spontaneous reporting of adverse drug reactions: a model centralized in the medical professional.

    Science.gov (United States)

    Herdeiro, María T; Polonia, Jorge; Gestal-Otero, Juan J; Figueiras, Adolfo

    2004-11-01

    The spontaneous reporting of adverse drug reactions (ADRs) through the yellow card and made concrete by the knowledge and attitudes of doctors, has been rousing a great deal of bibliographical interest in recent years. However, there does not seem to be any actual revision in the theme on which the theoretical models that explain the process of decision in reporting are proposed. In this work an explanatory model of the factors that condition reporting is proposed and a revision of the literature on the subject has also been carried out. The proposed model is centralized in the medical professional and it considers the habit of reporting as the result of the doctor's formation and his interaction with the environment. The combination of knowledge-attitudes-practices and the theory of the satisfaction of needs seemed very adequate for ADR systematization. The results also indicate that, to improve the participation of health professionals in surveillance systems through spontaneous reporting, it might be necessary to design combined strategies that modify both intrinsic (knowledge, attitudes) and extrinsic (relationship between health professionals and their patients, the national health system and pharmaceutical companies) factors.

  10. Connectivity of tiger (Panthera tigris populations in the human-influenced forest mosaic of Central India.

    Directory of Open Access Journals (Sweden)

    Aditya Joshi

    Full Text Available Today, most wild tigers live in small, isolated Protected Areas within human dominated landscapes in the Indian subcontinent. Future survival of tigers depends on increasing local population size, as well as maintaining connectivity between populations. While significant conservation effort has been invested in increasing tiger population size, few initiatives have focused on landscape-level connectivity and on understanding the effect different landscape elements have on maintaining connectivity. We combined individual-based genetic and landscape ecology approaches to address this issue in six protected areas with varying tiger densities and separation in the Central Indian tiger landscape. We non-invasively sampled 55 tigers from different protected areas within this landscape. Maximum-likelihood and Bayesian genetic assignment tests indicate long-range tiger dispersal (on the order of 650 km between protected areas. Further geo-spatial analyses revealed that tiger connectivity was affected by landscape elements such as human settlements, road density and host-population tiger density, but not by distance between populations. Our results elucidate the importance of landscape and habitat viability outside and between protected areas and provide a quantitative approach to test functionality of tiger corridors. We suggest future management strategies aim to minimize urban expansion between protected areas to maximize tiger connectivity. Achieving this goal in the context of ongoing urbanization and need to sustain current economic growth exerts enormous pressure on the remaining tiger habitats and emerges as a big challenge to conserve wild tigers in the Indian subcontinent.

  11. Acid mine drainage from the Panasqueira mine and its influence on Zêzere river (Central Portugal)

    Science.gov (United States)

    Candeias, Carla; Ávila, Paula Freire; Ferreira da Silva, Eduardo; Ferreira, Adelaide; Salgueiro, Ana Rita; Teixeira, João Paulo

    2014-11-01

    The Panasqueira hydrothermal mineralization, located in central Portugal, is the biggest Sn-W deposit of the Western Europe. The main evidences of the mining exploitation and ore treatment operations are testified with huge tailings, mainly, in the Rio and Barroca Grande areas. The mining and beneficiation processes, at the site, produces metal rich mine wastes. Oxidation of sulfides tailings and flow from open impoundments are responsible for the mobilization and migration of metals from the mine wastes into the environment. Acid mine drainage (AMD) discharged from Rio tailing has a pH around 3 and high metal concentrations. In Zêzere river, Fe and As are the most rapidly depleted downstream from AMD once As adsorbs, coprecipitate and form compounds with iron oxyhydroxides. The Zêzere river waters are oversaturated with respect to kaolinite and goethite and ferrihydrite can precipitate on stream with a near-neutral pH. At sites having low pH the dissolved Fe species in the water, mainly, occur as sulfate complexes due to a high SO4 concentration. Melanterite (Fe2+(SO4)·7(H2O)) and minor amounts of rozenite (Fe2+(SO4)·4(H2O)) and szomolnokite (Fe2+(SO4)·(H2O)) were observed on Rio tailing basement.

  12. The influence of landscape heterogeneity - ground beetles (coleoptera: carabidae) in fthiotida, central Greece.

    Science.gov (United States)

    Chapman, Anna Nicola

    2014-01-01

    Pitfall traps were used to sample Carabidae in agricultural land of the Spercheios valley, Fthiotida, Central Greece. Four pairs of cultivated fields were sampled. One field of each pair was located in a heterogeneous area and the other in a more homogeneous area. Heterogeneous areas were composed of small fields. They had high percentages of non-cropped habitats and a high diversity of land use types. Homogeneous areas were composed of larger fields. They had lower percentages of non-cropped habitats and a lower diversity of land use types. One pair of fields had been planted with cotton, one with maize, one with olives and one with wheat. Altogether 28 carabid species were recorded. This paper describes the study areas, the sampling methods used and presents the data collected during the study. Neither heterogeneous nor homogeneous areas had consistently higher abundance levels, activity density levels, species richness levels or diversity levels. However, significant differences were seen in some of the comparisons between heterogeneous and homogeneous areas.

  13. The combined influence of central and peripheral routes in the online persuasion process.

    Science.gov (United States)

    SanJosé-Cabezudo, Rebeca; Gutiérrez-Arranz, Ana M; Gutiérrez-Cillán, Jesús

    2009-06-01

    The elaboration likelihood model (ELM) is one of the most widely used psychological theories in academic literature to account for how advertising information is processed. The current work seeks to overturn one of the basic principles of the ELM and takes account of new variables in the model that help to explain the online persuasion process more clearly. Specifically, we posit that in a context of high-involvement exposure to advertising (e.g., Web pages), central and peripheral processing routes may act together. In a repeated-measures experimental design, 112 participants were exposed to two Web sites of a fictitious travel agency, differing only in their design--serious versus amusing. Findings evidence that a peripheral cue, such as how the Web pages are presented, does prove relevant when attempting to reflect the level of effectiveness. Moreover, if we take account of individuals' motivation when accessing the Internet, whether cognitive or affective, the motivation will impact their response to the Web site design. The work contributes to ELM literature and may help firms to pinpoint those areas and features of Internet advertising that prove most efficient.

  14. Influencing the central heating technologies installed in homes: The role of social capital in supply chain networks

    International Nuclear Information System (INIS)

    Wade, Faye; Shipworth, Michelle; Hitchings, Russell

    2016-01-01

    The likely installation of, and potential energy savings from, low carbon technologies in domestic buildings is not only dependent on those who fit them, but also the broader supply chains of which they are part. Despite this, the role of supply chain actors has been largely overlooked in strategies seeking to encourage the installation of more sustainable domestic heating technologies. With reference to central heating, this paper responds through an ethnographic analysis of how plumbers' merchants and sales representatives can influence the work of heating installers in the United Kingdom. It applies two dimensions of the concept of ‘social capital’: relational and structural. Relational social capital focuses on the trust, loyalty and reciprocity at play in relations, whilst structural social capital considers how the strength of tie can influence those to whom people turn for advice and support. Together, these ideas demonstrate how relationships amongst these groups can serve to influence product choice and facilitate information exchange. The paper concludes by discussing how these supply chains might be engaged with as a means of encouraging the installation of low carbon domestic technologies. - Highlights: •Ethnography is used to investigate the relationships in heating supply chains. •Social capital is seen to be an important part of these relationships. •These relationships could help in the promotion of low carbon technologies.

  15. Rainfall variability and its influence on surface flow regimes. Examples from the central highlands of Ethiopia

    Energy Technology Data Exchange (ETDEWEB)

    Osman, M. [Debre Zeit (Ethiopia); Sauerborn, P. [Seminar fuer Geographie und ihre Didaktik, Univ. zu Koeln, Koeln (Germany)

    2002-07-01

    The article shows results of an international and interdisciplinary project with the title 'Rainfall and its Erosivity in Ethiopia'. Rainfall variability affects the water resource management of Ethiopia. The influence of rainfall variability on flow regimes was investigated using five gauging stations with data availability from 1982-1997. It was confirmed that the variability in rainfall has a direct implication for surface runoff. Surface runoff declined at most of the gauging stations investigated. Therefore, effective water resource management is recommended for the study area. Future research should focus on watershed management which includes land-use and land cover. The question posed here is whether the variability in rainfall significantly affected surface flow in the study area. (orig.)

  16. Land Cover Influence on Wet Season Storm Runoff Generation and Hydrologic Flowpaths in Central Panama

    Science.gov (United States)

    Birch, A. L.; Stallard, R. F.; Barnard, H. R.

    2017-12-01

    While relationships between land use/land cover and hydrology are well studied and understood in temperate parts of the world, little research exists in the humid tropics, where hydrologic research is often decades behind. Specifically, quantitative information on how physical and biological differences across varying land covers influence runoff generation and hydrologic flowpaths in the humid tropics is scarce; frequently leading to poorly informed hydrologic modelling and water policy decision making. This research effort seeks to quantify how tropical land cover change may alter physical hydrologic processes in the economically important Panama Canal Watershed (Republic of Panama) by separating streamflow into its different runoff components using end member mixing analysis. The samples collected for this project come from small headwater catchments of four varying land covers (mature tropical forest, young secondary forest, active pasture, recently clear-cut tropical forest) within the Smithsonian Tropical Research Institute's Agua Salud Project. During the past three years, samples have been collected at the four study catchments from streamflow and from a number of water sources within hillslope transects, and have been analyzed for stable water isotopes, major cations, and major anions. Major ion analysis of these samples has shown distinct geochemical differences for the potential runoff generating end members sampled (soil moisture/ preferential flow, groundwater, overland flow, throughfall, and precipitation). Based on this finding, an effort was made from May-August 2017 to intensively sample streamflow during wet season storm events, yielding a total of 5 events of varying intensity in each land cover/catchment, with sampling intensity ranging from sub-hourly to sub-daily. The focus of this poster presentation will be to present the result of hydrograph separation's done using end member mixing analysis from this May-August 2017 storm dataset. Expected

  17. METHANE EMISSION FROM PADDY FIELDS AS INFLUENCED BY DIFFERENT WATER REGIMES IN CENTRAL JAVA

    Directory of Open Access Journals (Sweden)

    Prihasto Setyanto

    2013-07-01

    Full Text Available The concentration of methane (CH4 in the atmosphere is increasing at 1% per annum and rice fields are one of the sources that contribute to about 10-15% of the atmospheric CH4. One of the options to reduce greenhouse gas emission from rice fields is probably through water management. A field study was conducted to investigate the effects of water management practices on CH4 emission from rice field plots on a silty sand Aeric Tropaquept soil at Research Station for Agricultural Environment Preservation, Jakenan, Central Java, Indonesia, during the dry season of March to June 2002. Four water regimes tested were: (1 5 cm continuous flooding (CF, (2 0-1 cm continuous flooding (ST, (3 intermittent irrigation (IR where plots received continuously 5 cm of flooding with two times of draining at 15-20 and 25-30 days after transplanting (DAT, and (4 pulse irrigation (PI where plots were watered until 5 cm level and left to dry by itself until the water table reached 30 cm beneath soil surface then watered again. The total CH4 emissions of the four water treatments were 254, 185, 136 and 96 kg CH4 ha-1 for CF, ST, IR and PI, respectively. Methane emission increased during the early growing season, which coincided with the low redox potential of -100 to -150 mV in all treatments. Dry matter weight of straw and filled grain among the water treatments did not show significant differences. Likewise, total grain yield at 14% moisture content was not significantly different among treatments. However, this result should be carefully interpreted because the rice plants in all water treatments were infested by stem borer, which reduced the total grain yield of IR64 between 11% and 16%. This study suggests that intermittent and pulse irrigation practices will be important not only for water use efficiency, but also for CH4 emission reduction.

  18. ZOMG - II. Does the halo assembly history influence central galaxies and gas accretion?

    Science.gov (United States)

    Romano-Díaz, Emilio; Garaldi, Enrico; Borzyszkowski, Mikolaj; Porciani, Cristiano

    2017-08-01

    The growth rate and the internal dynamics of galaxy-sized dark-matter haloes depend on their location within the cosmic web. Haloes that sit at the nodes grow in mass till the present time and are dominated by radial orbits. Conversely, haloes embedded in prominent filaments do not change much in size and are dominated by tangential orbits. Using zoom hydrodynamical simulations including star formation and feedback, we study how gas accretes on to these different classes of objects, which, for simplicity, we dub 'accreting' and 'stalled' haloes. We find that all haloes get a fresh supply of newly accreted gas in their inner regions, although this slowly decreases with time, in particular for the stalled haloes. The inflow of new gas is always higher than (but comparable with) that of recycled material. Overall, the cold-gas fraction increases (decreases) with time for the accreting (stalled) haloes. In all cases, a stellar disc and a bulge form at the centre of the simulated haloes. The total stellar mass is in excellent agreement with expectations based on the abundance-matching technique. Many properties of the central galaxies do not seem to correlate with the large-scale environment in which the haloes reside. However, there are two notable exceptions that characterize stalled haloes with respect to their accreting counterparts: (I) The galaxy disc contains much older stellar populations. (II) Its vertical scaleheight is larger by a factor of 2 or more. This thickening is likely due to the heating of the long-lived discs by mergers and close flybys.

  19. Nematode community structure along a central Chile margin transect influenced by the oxygen minimum zone

    Science.gov (United States)

    Neira, Carlos; King, Ian; Mendoza, Guillermo; Sellanes, Javier; De Ley, Paul; Levin, Lisa A.

    2013-08-01

    Nematodes are among the metazoans most tolerant of low-oxygen conditions and play major roles in seafloor ecosystem processes. Nematode communities were studied in sediments off Concepción, Central Chile, spanning the outer shelf within the OMZ (122 m) to the mid-lower continental slope (972 m) beneath the OMZ. The total density and biomass of nematodes (core depth 0-10 cm) ranged from 677 to 2006 ind. 10 cm-2, and 168.4 to 506.5 μg DW 10 cm-2, respectively. Among metazoan meiofaunal taxa, nematodes predominated at all sites both in terms of relative abundance (83.7-99.4%) and biomass (53.8-88.1%), followed by copepods, nauplii and polychaetes. Nematodes were represented by 33 genera distributed among 17 families, with densities greatest at low oxygen sites (122-364 m; ~2000 ind. 10 cm-2). Nematode generic and trophic diversity, and individual biomass were lowest, and Rank 1 dominance was highest, at the most oxygen-depleted site (122 m), despite the fact that the organic carbon content of the sediment was maximal at this depth. At the most oxygenated slope sites (827 and 972 m), all of Wieser's nematode feeding groups were represented. In contrast, at the lowest-oxygen site, only selective deposit (bacterial) feeders (1A) were present, indicating a reduction in trophic complexity. A large percentage of nematodes inhabited subsurface sediment layers (>1 cm). At deeper, more oxygenated sites (827 and 972 m), nematode individual biomass increased downcore, while within the OMZ, nematode biomass was low and remained relatively uniform through the sediment column. The concentration of nematodes in deeper sediment layers, the vertical distribution of the feeding groups, as well as the high nutritional quality of the deeper layers, suggest a differential resource partitioning of the food available, which may reduce interspecific competition.

  20. CDKL5 variants

    Science.gov (United States)

    Kalscheuer, Vera M.; Hennig, Friederike; Leonard, Helen; Downs, Jenny; Clarke, Angus; Benke, Tim A.; Armstrong, Judith; Pineda, Mercedes; Bailey, Mark E.S.; Cobb, Stuart R.

    2017-01-01

    Objective: To provide new insights into the interpretation of genetic variants in a rare neurologic disorder, CDKL5 deficiency, in the contexts of population sequencing data and an updated characterization of the CDKL5 gene. Methods: We analyzed all known potentially pathogenic CDKL5 variants by combining data from large-scale population sequencing studies with CDKL5 variants from new and all available clinical cohorts and combined this with computational methods to predict pathogenicity. Results: The study has identified several variants that can be reclassified as benign or likely benign. With the addition of novel CDKL5 variants, we confirm that pathogenic missense variants cluster in the catalytic domain of CDKL5 and reclassify a purported missense variant as having a splicing consequence. We provide further evidence that missense variants in the final 3 exons are likely to be benign and not important to disease pathology. We also describe benign splicing and nonsense variants within these exons, suggesting that isoform hCDKL5_5 is likely to have little or no neurologic significance. We also use the available data to make a preliminary estimate of minimum incidence of CDKL5 deficiency. Conclusions: These findings have implications for genetic diagnosis, providing evidence for the reclassification of specific variants previously thought to result in CDKL5 deficiency. Together, these analyses support the view that the predominant brain isoform in humans (hCDKL5_1) is crucial for normal neurodevelopment and that the catalytic domain is the primary functional domain. PMID:29264392

  1. The GeoFlow experiment-spherical Rayleigh-Benard convection under the influence of an artificial central force field

    International Nuclear Information System (INIS)

    Gellert, M; Beltrame, P; Egbers, C

    2005-01-01

    Spherical Rayleigh-Benard convection under the influence of an artificial central force field produced by the so-called dielectrophoretic effect is studied as a simplified model of the flow in the outer earth core. The fluid motion there is most probably driving the earth's dynamo and the energy source for the earth's magnetic field. Studying convective flows in earth-like geometry could lead to a deeper understanding of the basics of these processes. This research is a preparatory study for the experiments on the International Space Station (ISS). A bifurcation-theoretical approach shows the existence of heteroclinic cycles between spherical modes (l, l + 1) for the non-rotating system. This behavior depends strong on the radius ratio of the spheres and will be hard to detect in the experiment. For slow rotations interactions of the azimuthal modes (m, m + 1) found in numerical simulations for supercritical states are supposed to be experimentally observable

  2. Influence of lake surface area and total phosphorus on annual bluegill growth in small impoundments of central Georgia

    Science.gov (United States)

    Jennings, Cecil A.; Sundmark, Aaron P.

    2017-01-01

    The relationships between environmental variables and the growth rates of fishes are important and rapidly expanding topics in fisheries ecology. We used an informationtheoretic approach to evaluate the influence of lake surface area and total phosphorus on the age-specific growth rates of Lepomis macrochirus (Bluegill) in 6 small impoundments in central Georgia. We used model averaging to create composite models and determine the relative importance of the variables within each model. Results indicated that surface area was the most important factor in the models predicting growth of Bluegills aged 1–4 years; total phosphorus was also an important predictor for the same age-classes. These results suggest that managers can use water quality and lake morphometry variables to create predictive models specific to their waterbody or region to help develop lake-specific management plans that select for and optimize local-level habitat factors for enhancing Bluegill growth.

  3. [Willingness and influencing factors related to "centralized slaughtering, fresh poultry listing and marketing" strategy among the household chefs in Guangzhou].

    Science.gov (United States)

    Liu, W H; Ma, Y; Lu, J Y; Yan, H C; Zhou, J H; Liao, X L; Zeng, J H; Lin, W Q; Wu, D; Zhang, Z B; Yang, Z C; Chen, Z Q; Chen, J D; Li, T G

    2018-02-10

    Objective: To study the willingness and influence factors related to "centralized slaughtering, fresh poultry listing and marketing" strategy, among the household chefs, and provide reference for government to adjust and optimize the strategy on avian influenza prevention. Methods: According to the geographical characteristics and regional functions, 6 'monitoring stations' were selected from 12 residential districts of Guangzhou, respectively. Another 21 meat markets which selling live poultry, were selected in each station and 5 household chefs of each market were invited to attend a face to face interview. Basic information, personal cognitive, willingness and influencing factors to the policy were under study. Univariate and multivariate logistic regression methods were used. Results: A total of 664 household chefs underwent the survey and results showed that the rate of support to the "centralized slaughtering, fresh poultry listing and marketing" strategy was 44.6% (296/664). Results from the multi-factor logistic regression showed that those household chefs who were males ( OR =1.618, 95% CI : 1.156-2.264, P =0.005), having received higher education ( OR =1.814, 95% CI : 1.296-2.539, P =0.001), or believing that the existence of live poultry stalls was related to the transmission of avian influenza ( OR =1.918, 95% CI : 1.341-2.743, P marketing" strategy. Conclusion: Detailed study on this subject and, setting up pilot project in some areas as well as prioritizing the education programs for household chefs seemed helpful to the implementation of the 'freezing-fresh poultry' policy.

  4. How Does Transcranial Magnetic Stimulation Influence Glial Cells in the Central Nervous System?

    Directory of Open Access Journals (Sweden)

    Carlie L Cullen

    2016-04-01

    Full Text Available Transcranial magnetic stimulation (TMS is widely used in the clinic, and while it has a direct effect on neuronal excitability, the beneficial effects experienced by patients are likely to include the indirect activation of other cell types. Research conducted over the past two decades has made it increasingly clear that a population of non-neuronal cells, collectively known as glia, respond to and facilitate neuronal signalling. Each glial cell type has the ability to respond to electrical activity directly or indirectly, making them likely cellular effectors of TMS. TMS has been shown to enhance adult neural stem and progenitor cell proliferation, but the effect on cell survival and differentiation is less certain. Furthermore there is limited information regarding the response of astrocytes and microglia to TMS, and a complete paucity of data relating to the response of oligodendrocyte-lineage cells to this treatment. However, due to the critical and yet multifaceted role of glial cells in the CNS, the influence that TMS has on glial cells is certainly an area that warrants careful examination.

  5. Human and veterinary pharmaceutical abundance and transport in a rural central Indiana stream influenced by confined animal feeding operations (CAFOs).

    Science.gov (United States)

    Bernot, Melody J; Smith, Lora; Frey, Jeff

    2013-02-15

    Previous research has documented the ubiquity of human and veterinary pharmaceuticals and personal care products (PPCPs) in freshwater, though their persistence and transport is relatively unknown. The objective of this study was to quantify the abundance and transport of human and veterinary PPCPs in a rural, central Indiana stream influenced by confined animal feeding operations (CAFOs). Research objectives also aimed to identify mechanisms controlling abundance and transport. PPCP concentrations and stream physicochemical characteristics were measured monthly over one year at multiple sites along a 60 km reach. Overall, human PPCPs were more abundant and measured at higher concentrations than veterinary pharmaceuticals. Veterinary pharmaceutical concentrations (lincomycin, sulfamethazine) were greatest in stream reaches adjacent to CAFOs. No distinct spatial variation was observed for human PPCPs. However, caffeine and paraxanthine had significant temporal variation with higher concentrations in winter. In contrast, DEET had higher concentrations in summer. Pharmaceutical load (μg/s) ranged fromcaffeine are transported farther than triclosan though had lower loss velocities (loss relative to abundance). Loss rate of PPCPs was an order of magnitude lower than nitrate-N loss rate. Human PPCPs were more abundant than veterinary pharmaceuticals in this rural watershed influenced by CAFOs. Further, concentrations had significant temporal and spatial variation highlighting differential sources and fates. Thus, mechanisms driving PPCP retention and transport need to be identified to aid management of these emerging contaminants. Copyright © 2012 Elsevier B.V. All rights reserved.

  6. Alfalfa nutritive quality for ruminant livestock as influenced by ambient air quality in west-central Alberta

    International Nuclear Information System (INIS)

    Lin, J.C.; Nosal, M.; Muntifering, R.B.; Krupa, S.V.

    2007-01-01

    Alfalfa (Medicago sativa) nutritive quality response to ambient ozone (O 3 ), sulfur dioxide (SO 2 ) and oxides of nitrogen (NO x ) were assessed at three locations in west-central Alberta, Canada (1998-2002). Yield data were segregated into high and low relative to overall median yield. Ozone concentrations (hourly median and 95th-percentile) and precipitation (P) contributed 69 and 29%, respectively, to the variability in crude protein (CP) concentration in low-yielding alfalfa, whereas mean temperature (T) and relative humidity (RH) collectively influenced 98% of the variation in CP in high-yielding alfalfa. Three-fourths of the accounted variation in relative feed value (RFV) of low-yielding alfalfa was attributable to P, T and RH, whereas median and 95th-percentile hourly O 3 concentrations and SO 2 and NO x exposure integrals contributed 25%. In contrast, air quality, (mainly O 3 ) influenced 86% of the accounted variation in RFV of high-yielding alfalfa, and T and P collectively contributed 14%. - Exposure to ambient concentrations of phytotoxic air pollutants affected nutritive quality of alfalfa for ruminant livestock in a yield-dependent manner

  7. Alfalfa nutritive quality for ruminant livestock as influenced by ambient air quality in west-central Alberta

    Energy Technology Data Exchange (ETDEWEB)

    Lin, J.C. [Department of Animal Sciences, Auburn University, Auburn, AL 36849 (United States); Nosal, M. [Department of Mathematics and Statistics, University of Calgary, Calgary, AB T2N 1N4 (Canada); Muntifering, R.B. [Department of Animal Sciences, Auburn University, Auburn, AL 36849 (United States)]. E-mail: muntirb@auburn.edu; Krupa, S.V. [Department of Plant Pathology, University of Minnesota, St. Paul, MN 55108 (United States)

    2007-09-15

    Alfalfa (Medicago sativa) nutritive quality response to ambient ozone (O{sub 3}), sulfur dioxide (SO{sub 2}) and oxides of nitrogen (NO {sub x} ) were assessed at three locations in west-central Alberta, Canada (1998-2002). Yield data were segregated into high and low relative to overall median yield. Ozone concentrations (hourly median and 95th-percentile) and precipitation (P) contributed 69 and 29%, respectively, to the variability in crude protein (CP) concentration in low-yielding alfalfa, whereas mean temperature (T) and relative humidity (RH) collectively influenced 98% of the variation in CP in high-yielding alfalfa. Three-fourths of the accounted variation in relative feed value (RFV) of low-yielding alfalfa was attributable to P, T and RH, whereas median and 95th-percentile hourly O{sub 3} concentrations and SO{sub 2} and NO {sub x} exposure integrals contributed 25%. In contrast, air quality, (mainly O{sub 3}) influenced 86% of the accounted variation in RFV of high-yielding alfalfa, and T and P collectively contributed 14%. - Exposure to ambient concentrations of phytotoxic air pollutants affected nutritive quality of alfalfa for ruminant livestock in a yield-dependent manner.

  8. The influence of breastfeeding beliefs on the sexual behavior of the Tarok in north-central Nigeria.

    Science.gov (United States)

    Orisaremi, Titilayo Cordelia

    2013-12-01

    The paper investigated some of the beliefs around the breastfeeding norm of the postpartum abstinence and how these influence sexual behavior. It was based on a larger project which explored how gender relations affect reproductive processes and the reproductive health of Tarok women in north-central Nigeria. Research was conducted in four Tarok communities using qualitative instruments, namely in-depth interviews (IDIs) and focus group discussion (FGD) guides. Participants were female and male community members of 15 years and above. Sixteen IDIs (four per community) were conducted with women, religious and traditional leaders as well as senior health providers. Twenty-four FGD sessions (six per community) were held with different groups in the community and data were descriptively analyzed. Findings demonstrated customary double standards in sexual matters; the significance and influence of certain unfounded traditional beliefs around breastfeeding on sexual behavior and choices; as well as some of the changes that characterize sexual relationships among modern Tarok couples brought about by Christianity, Western education and modernity. Traditional breastfeeding norms and beliefs seek to overly control women's sexuality while giving precedence to the interest of the child and its father. The study calls for a change in attitude to meet the demands of the current reality in order to strengthen marital unions and guarantee healthy families. Copyright © 2013 Elsevier B.V. All rights reserved.

  9. Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits

    DEFF Research Database (Denmark)

    Pankratz, Nathan; Schick, Ursula M; Zhou, Yi

    2016-01-01

    with Illumina HumanExome BeadChip genotypes. We then performed replication analyses of new discoveries in 18,018 European-American women and 5,261 Han Chinese. We identified and replicated four new erythrocyte trait-locus associations (CEP89, SHROOM3, FADS2, and APOE) and six new WBC loci for neutrophil count...... (S1PR4), monocyte count (BTBD8, NLRP12, and IL17RA), eosinophil count (IRF1), and total WBC count (MYB). The association of a rare missense variant in S1PR4 supports the role of sphingosine-1-phosphate signaling in leukocyte trafficking and circulating neutrophil counts. Loss-of-function experiments...... for S1pr4 in mouse and s1pr4 in zebrafish demonstrated phenotypes consistent with the association observed in humans and altered kinetics of neutrophil recruitment and resolution in response to tissue injury....

  10. Genetic variant in the 3'-untranslated region of VEGFR1 gene influences chronic obstructive pulmonary disease and lung cancer development in Chinese population.

    Science.gov (United States)

    Wang, Hui; Yang, Lei; Deng, Jieqiong; Wang, Bo; Yang, Xiaorong; Yang, Rongrong; Cheng, Mei; Fang, Wenxiang; Qiu, Fuman; Zhang, Xin; Ji, Weidong; Ran, Pixin; Zhou, Yifeng; Lu, Jiachun

    2014-09-01

    Lung inflammation and epithelial to mesenchymal transition (EMT) are two pathogenic features for the two contextual diseases: chronic obstructive pulmonary disease (COPD) and lung cancer. VEGFR1 (or FLT1) plays a certain role in promoting tumour growth, inflammation and EMT. To simultaneously test the association between the single nucleotide polymorphisms (SNPs) in VEGFR1 and risk of COPD and lung cancer would reveal genetic mechanisms shared by these two diseases and joint aetiology. We conducted a two-population hospital-based case-control study. Three potential functional SNPs (rs664393, rs7326277 and rs9554314) were genotyped in southern Chinese and validated in eastern Chinese to explore their associations with COPD risk in 1511 COPD patients and 1677 normal lung function controls, and with lung cancer risk in 1559 lung cancer cases and 1679 cancer-free controls. We also detected the function of the promising SNP. Individuals carrying the rs7326277C (CT+CC) variant genotypes of VEGFR1 had a significant decrease in risk of both COPD (OR = 0.78; 95% CI = 0.68-0.90) and lung cancer (OR = 0.79; 95% CI = 0.64-0.98), compared with those carrying the rs7326277TT genotype. Functional assays further showed that the rs7326277C genotypes had lower transcriptional activity and caused decreased VEGFR expression, compared with the rs7326277TT genotype. However, no significant association was observed for the other two SNPs (rs664393 and rs9554314) and either COPD or lung cancer risk. Our data suggested that the rs7326277C variant of VEGFR1 could reduce both COPD and lung cancer risk by lowering VEGFR1 mRNA expression; the SNP might be a common susceptible locus for both COPD and lung cancer. © The Author 2014. Published by Oxford University Press on behalf of the UK Environmental Mutagen Society. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  11. Oxytocin receptor gene (OXTR) variant rs1042778 moderates the influence of family environment on changes in perceived social support over time.

    Science.gov (United States)

    Dobewall, Henrik; Hakulinen, Christian; Keltikangas-Järvinen, Liisa; Pulkki-Råback, Laura; Seppälä, Ilkka; Lehtimäki, Terho; Raitakari, Olli T; Hintsanen, Mirka

    2018-08-01

    Lack of social support is an established risk factor across health outcomes, making it important to examine its family environmental and genetic determinants. In a 27-year follow-up of the Young Finns Study (N = 2341), we examined with a latent growth curve model whether genes involved in the oxytocin signaling pathway-namely, oxytocin receptor gene (OXTR) variants rs1042778, rs2254298, and rs53576-moderate the effect of early-life social experiences on perceived social support across the life span. Mothers reported the emotional warmth and acceptance towards their children at baseline when the participants were from 3 to 18 years old (1980). Perceived family support and support from friends and peripheral sources were assessed in five follow-ups 18 years apart (1989-2007). Maternal emotional warmth and acceptance predicted the initial level of perceived social support across subscales, while the rate of change in family support was affected by the family environment only if participants carried the T-allele of OXTR rs1042778. This gene-environment interaction was not found for the rate of change in support from friends and peripheral sources and we also did not find associations between latent growth in perceived social support and OXTR variants rs53576 and rs2254298. Selective attrition in perceived social support, maternal emotional warmth and acceptance, gender, and SES. Family environment was assessed by a non-standardized measure. OXTR rs1042778 polymorphism seems to contribute to changes in perceived family support in that way that some individuals (T-allele carriers) 'recover', to some extent, from the effects of early-life social experiences, whereas others (G/G genotype carriers) do not. Copyright © 2018 Elsevier B.V. All rights reserved.

  12. Genetic Variants at BCL11A and HBS1L-MYB loci Influence Hb F Levels in Chinese Zhuang β-Thalassemia Intermedia Patients.

    Science.gov (United States)

    Lai, Yunli; Chen, Yun; Chen, Biyan; Zheng, Haiyang; Yi, Sheng; Li, Guojian; Wei, Hongwei; He, Sheng; Zheng, Chenguang

    2016-11-01

    Increased Hb F levels can ameliorate the symptoms of β-thalassemia (β-thal). Due to the genetic heterogenicity of β-thal, the relationship between genetic variants in modifier genes and Hb F level has been studied in different populations. The Chinese Zhuang has the second largest population in China and has 6.78% prevalence of β-thal. However, the effects of these single nucleotide polymorphism (SNP) variants on the Hb F levels of β-thal intermedia (β-TI) patients in this population have not been reported. To explore the association between modifier loci (β-globin gene cluster, HBS1L-MYB intergenic region and BCL11A) and Hb F levels in Chinese Zhuang β-TI patients, 96 unrelated β-TI patients (50 males and 46 females) with different Hb F levels were recruited and genotyped by mass spectrometry. A total of 13 SNPs were confirmed to be in a significant relationship with Hb F levels in this population. Of these, high-risk genotypes of six Hb F-associated SNPs, rs9376090, rs7776054, rs9399137, rs9389268, rs9402685 in the HBS1L-MYB intergenic region and rs189984760 in the BCL11A locus, showed association with high Hb F levels, especially for SNPs in linkage disequilibrium. One novel Hb F-associated SNP, rs189984760, was identified in our study. Our findings will be of valuable reference for correlation between modifier genes and Hb F in Chinese Zhuang populations and may lead to better understand the modifying mechanisms for β-thal.

  13. Analysis of genetic variants of coat colour loci and their influence on the coat colour phenotype and quantitative performance traits in the pig

    OpenAIRE

    Siebel, Krista

    2010-01-01

    The influence of four single coat colour loci (KIT, MC1R, TYR, ASP) on the coat colour phenotype and performance traits in the pig have been investigated in a resource population. The research revealed an unknown genotype for the white phenotype in the pig. The influence of the Agouti locus on the coat colour phenotype has been suggested. An influence of the coat colour loci KIT on growth performance traits and MC1R on body fatness could be demonstrated.

  14. The influence of partnership centrality on organizational perceptions of support: a case study of the AHLN structure.

    Science.gov (United States)

    Moore, Spencer; Smith, Cynthia; Simpson, Tammy; Minke, Sharlene Wolbeck

    2006-10-31

    Knowledge of the structure and character of inter-organizational relationships found among health promotion organizations is a prerequisite for the development of evidence-based network-level intervention activities. The Alberta Healthy Living Network (AHLN) mapped the inter-organizational structure of its members to examine the effects of the network environment on organizational-level perceptions. This exploratory analysis examines whether network structure, specifically partnership ties among AHLN members, influences organizational perceptions of support after controlling for organizational-level attributes. Organizational surveys were conducted with representatives from AHLN organizations as of February 2004 (n = 54). Organizational attribute and inter-organizational data on various network dimensions were collected. Organizations were classified into traditional and non-traditional categories. We examined the partnership network dimension. In- and out-degree centrality scores on partnership ties were calculated for each organization and tested against organizational perceptions of available financial support. Non-traditional organizations are more likely to view financial support as more readily available for their HEALTR programs and activities than traditional organizations (1.57, 95% CI: .34, 2.79). After controlling for organizational characteristics, organizations that have been frequently identified by other organizations as valuable partners in the AHLN network were found significantly more likely to perceive a higher sense of funding availability (In-degree partnership value) (.03, 95% CI: .01, .05). Organizational perceptions of a supportive environment are framed not only by organizational characteristics but also by an organization's position in an inter-organizational network. Network contexts can influence the way that organizations perceive their environment and potentially the actions that organizations may take in light of such perceptions. By

  15. Variants of cellobiohydrolases

    Energy Technology Data Exchange (ETDEWEB)

    Bott, Richard R.; Foukaraki, Maria; Hommes, Ronaldus Wilhelmus; Kaper, Thijs; Kelemen, Bradley R.; Kralj, Slavko; Nikolaev, Igor; Sandgren, Mats; Van Lieshout, Johannes Franciscus Thomas; Van Stigt Thans, Sander

    2018-04-10

    Disclosed are a number of homologs and variants of Hypocrea jecorina Ce17A (formerly Trichoderma reesei cellobiohydrolase I or CBH1), nucleic acids encoding the same and methods for producing the same. The homologs and variant cellulases have the amino acid sequence of a glycosyl hydrolase of family 7A wherein one or more amino acid residues are substituted and/or deleted.

  16. REGIONAL CENTRALITIES, ACADEMIC CENTRALITIES: TERRITORIAL RECONFIGURATIONS IN BRAZIL AND THEIR INFLUENCES IN THE DEVELOPMENT OF GEOGRAPHY IN BAHIA (1870-1970

    Directory of Open Access Journals (Sweden)

    André Nunes de Sousa

    2016-12-01

    Full Text Available This article aims to demonstrate the connections between regional and academic centralities. The investigations were focused on the changes in Brazilian national territory, contemplating its movements of configuration and reconfiguration. In the article was analyzed the period between 1870 to 1970, because it is known that it held major changes in Brazilian social life and in there definition of its spatial and regional situations. This historical review intents to demonstrate that the academic centrality of Geography in Brazil followed the shift of the political and economic centralities, which moved from the Northeast region to the Southeast region, especially to the state of São Paulo. The article also seeks to bring into light part of the history of Geography that was developed in Bahia and its contributions to the progress of Geography in Brazil considering that it is largely unknown to most of Brazilian geographers.

  17. Influence of riverine outputs on sandy beaches of Higuerote, central coast of Venezuela Influencia de aportes fluviales en playas arenosas de Higuerote, costa central de Venezuela

    Directory of Open Access Journals (Sweden)

    Antonio Herrera

    2011-01-01

    Full Text Available The influence of riverine outputs from the Tuy River on the coastal processes of near sandy beaches was assessed by measuring the physical and chemical characteristics of water and sediment samples at eight sites along the north central Venezuelan coast and from the rivers that flow through this región into the sea (Tuy, Capaya, Curiepe during two field surveys. In addition, the behavior of the Tuy River discharge plume was evaluated using remote sensors, and its effect on the population abundance and size structure of the clam Tivela mactroides was determined. Of the three rivers evaluated, the Tuy River had the highest impact on the coastal zone (789.15 ± 190.63 km² in terms of flow rate (246.39 m³ s-1, nutrients (659.61 ± 503.27 g s-1total nitrogen; 52 ± 53.09 g s-1 total phosphorus and sedimentary material (9320.84 ± 9728.15 g s-1. The variables measured (salinity, total nitrogen and phosphorus, pH, turbidity, and total organic carbon showed a spatial gradient along the coast. Tivela mactroides had the highest biomass and density (9126.8 ± 1562 g m-2; 9222.22 ± 1976.72 ind m-2 at the sites farthest from the river mouths and smaller sizes (Para evaluar los aportes del río Tuy sobre los procesos costeros en playas arenosas cercanas, se examinó en dos campañas de muestreo, las características físicas y químicas a nivel de agua y sedimento en ocho estaciones ubicadas a lo largo de la costa centro norte de Venezuela, el cauce de los ríos que allí desembocan (Tuy, Capaya, Curiepe, además del comportamiento de la pluma del río Tuy mediante sensores remotos y su influencia sobre las poblaciones de la almeja Tivela mactroides en cuanto a abundancia y estructura de talla. El río Tuy tuvo mayor predominio sobre la zona costera (789,15 ± 190,63 km , presentó el mayor aporte líquido (246,39 m³ s-1, de nutrientes (659,61 ± 503,27 g s-1 nitrógeno total; 52 ± 53,09 g s-1fósforo total y material sedimentario (9320,84 ± 9728,15 g

  18. Temporal Variations of Water Productivity in Irrigated Corn: An Analysis of Factors Influencing Yield and Water Use across Central Nebraska.

    Directory of Open Access Journals (Sweden)

    Tony Carr

    Full Text Available Water Productivity (WP of a crop defines the relationship between the economic or physical yield of the crop and its water use. With this concept it is possible to identify disproportionate water use or water-limited yield gaps and thereby support improvements in agricultural water management. However, too often important qualitative and quantitative environmental factors are not part of a WP analysis and therefore neglect the aspect of maintaining a sustainable agricultural system. In this study, we examine both the physical and economic WP in perspective with temporally changing environmental conditions. The physical WP analysis was performed by comparing simulated maximum attainable corn yields per unit of water using the crop model Hybrid-Maize with observed data from 2005 through 2013 from 108 farm plots in the Central Platte and the Tri Basin Natural Resource Districts of Nebraska. In order to expand the WP analysis on external factors influencing yields, a second model, Maize-N, was used to estimate optimal nitrogen (N-fertilizer rate for specific fields in the study area. Finally, a vadose zone flow and transport model, HYDRUS-1D for simulating vertical nutrient transport in the soil, was used to estimate locations of nitrogen pulses in the soil profile. The comparison of simulated and observed data revealed that WP was not on an optimal level, mainly due to large amounts of irrigation used in the study area. The further analysis illustrated year-to-year variations of WP during the nine consecutive years, as well as the need to improve fertilizer management to favor WP and environmental quality. In addition, we addressed the negative influence of groundwater depletion on the economic WP through increasing pumping costs. In summary, this study demonstrated that involving temporal variations of WP as well as associated environmental and economic issues can represent a bigger picture of WP that can help to create incentives to sustainably

  19. Tolerating the “doubting Thomas”: how centrality of religious beliefs vs. practices influences prejudice against atheists

    Science.gov (United States)

    Hughes, Jeffrey; Grossmann, Igor; Cohen, Adam B.

    2015-01-01

    Past research has found a robust effect of prejudice against atheists in largely Christian-dominated (belief-oriented) samples. We propose that religious centrality of beliefs vs. practices influences attitudes toward atheists, such that religious groups emphasizing beliefs perceive non-believers more negatively than believers, while groups emphasizing practices perceive non-practicing individuals more negatively than practicing individuals. Studies 1–2, in surveys of 41 countries, found that Muslims and Protestants (belief-oriented) had more negative attitudes toward atheists than did Jews and Hindus (practice-oriented). Study 3 experimentally manipulated a target individual's beliefs and practices. Protestants had more negative attitudes toward a non-believer (vs. a believer), whereas Jews had more negative attitudes toward a non-practicing individual (vs. a practicing individual, particularly when they had a Jewish background). This research has implications for the psychology of religion, anti-atheist prejudice, and cross-cultural attitudes regarding where dissent in beliefs or practices may be tolerated or censured within religious groups. PMID:26441728

  20. Opinions from teachers in the Fresno area of Central California regarding the influence of mobile technology on their students’ learning

    Directory of Open Access Journals (Sweden)

    Navaridas, Fermín

    2013-10-01

    Full Text Available This paper presents the most relevant results of a study in which opinions of the teachers in the area of Fresno (Central California, USA about the effects of the integration of mobile devices into the teaching-learning process. Among other objectives, this study has tried to analyze the influence of mobile learning over three very important learning factors: affective-emotional (motivation, ethic-social (social skills and the cognitive one (cognitive skills. In order to carry out this study, a descriptive methodological approach was adopted, using the survey technique as the most adequate method to collect teachers´ opinions in a relatively fast and precise way. Obtained results show a widespread agreement among teachers about the pedagogical potential of mobile devices as a tool to improve learning quality. In general terms, conclusions suggest an improvement in the students’ interest on educational tasks, an increase during study activities, a better collaborative work, as well as an improvement of creativity and information acquisition.

  1. Farm and socio-economic characteristics of smallholder milk producers and their influence on technology adoption in Central Mexico.

    Science.gov (United States)

    García, Carlos Galdino Martínez; Dorward, Peter; Rehman, Tahir

    2012-08-01

    In order to identify the factors influencing adoption of technologies promoted by government to small-scale dairy farmers in the highlands of central Mexico, a field survey was conducted. A total of 115 farmers were grouped through cluster analysis (CA) and divided into three wealth status categories (high, medium and low) using wealth ranking. Chi-square analysis was used to examine the association of wealth status with technology adoption. Four groups of farms were differentiated in terms of farms' dimensions, farmers' education, sources of incomes, wealth status, management of herd, monetary support by government and technological availability. Statistical differences (p technologies identified, six of which focused on crop or forage production and 11 of which were related to animal husbandry. Relatives and other farmers played an important role in knowledge diffusion and technology adoption. Although wealth status had a significant association (p technology to farmers, usefulness and productive benefits of innovations together with farmers' knowledge of them, were important. It is concluded that the analysis of the information per group and wealth status was useful to identify suitable crop or forage related and animal husbandry technologies per group and wealth status of farmers. Therefore the characterizations of farmers could provide a useful starting point for the design and delivery of more appropriate and effective extension.

  2. Influence of geology, regolith and soil on fluid flow pathways in an upland catchment in central NSW, Australia

    Science.gov (United States)

    Bernardi, Tony

    2014-05-01

    Influence of geology, regolith and soil on fluid flow pathways in an upland catchment in central NSW, Australia. Tony Bernardi and Leah Moore Dryland Salinity Hazard Mitigation Program (DSHMP), University of Canberra, ACT 2601, AUSTRALIA The diversity of salt expression in central NSW has defied classification because salt expression, mobilisation and transport is highly variable and is typically site specific. Hydrological models are extensively used to simulate possible outcomes for a range of land use changes to mitigate the mobilisation and transport of salt into the streams or across the land surface. The ability of these models to mimic reality can be variable thereby reducing the confidence in the models outputs and uptake of strategic management changes by the community. This study focuses on a 250 ha semi-arid sub-catchment of Little River catchment in central west NSW in the Murray-Darling Basin, Australia. We propose that an understanding the structure of the landforms and configuration of rock, regolith and soil materials at the study site influences fluid flow pathways in the landscape and can be related to observed variations in the chemical composition and salinity of surface and aquifer water. Preliminary geological mapping of the site identified the dominant rock type as a pink and grey dacite and in localised mid-slope areas, a coarsely crystalline biotite-phyric granodiorite. Samples were taken at regular intervals from natural exposures in eroded stream banks and in excavations made during the installation of neutron moisture meter tubes. In order to establish mineral weathering pathways, samples were taken from the relatively unweathered core to the outer weathered 'onion skins' of corestones on both substrates, and then up through the regolith profile, including the soil zone, to the land surface. X-ray diffraction (XRD) analysis and X-ray fluorescence (XRF) was conducted on the rock and soil/saprock samples. Electromagnetic induction (EMI

  3. The influence of upper-crust lithology on topographic development in the central Coast Ranges of California

    Science.gov (United States)

    Garcia, A.F.; Mahan, S.A.

    2012-01-01

    A fundamental geological tenet is that as landscapes evolve over graded to geologic time, geologic structures control patterns of topographic distribution in mountainous areas such that terrain underlain by competent rock will be higher than terrain underlain by incompetent rock. This paper shows that in active orogens where markedly weak and markedly strong rocks are juxtaposed along contacts that parallel regional structures, relatively high topography can form where strain is localized in the weak rock. Such a relationship is illustrated by the topography of the central Coast Ranges between the Pacific coastline and the San Andreas fault zone (SAFZ), and along the length of the Gabilan Mesa (the "Gabilan Mesa segment" of the central Coast Ranges). Within the Gabilan Mesa segment, the granitic upper crust of the Salinian terrane is in contact with the accretionary-prism m??lange upper crust of the Nacimiento terrane along the inactive Nacimiento fault zone. A prominent topographic lineament is present along most of this lithologic boundary, approximately 50 to 65. km southwest of the SAFZ, with the higher topography formed in the m??lange on the southwest side of the Nacimiento fault. This paper investigates factors influencing the pattern of topographic development in the Gabilan Mesa segment of the central Coast Ranges by correlating shortening magnitude with the upper-crust compositions of the Salinian and Nacimiento terranes. The fluvial geomorphology of two valleys in the Gabilan Mesa, which is within the Salinian terrane, and alluvial geochronology based on optically-stimulated luminescence (OSL) age estimates, reveal that the magnitude of shortening accommodated by down-to-the-southwest tilting of the mesa since 400ka is less than 1 to 2m. Our results, combined with those of previous studies, indicate that at least 63% to 78% of late-Cenozoic, northeast-southwest directed, upper-crustal shortening across the Gabilan Mesa segment has been accommodated

  4. Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children.

    Directory of Open Access Journals (Sweden)

    Tuomas O Kilpeläinen

    2011-11-01

    Full Text Available The FTO gene harbors the strongest known susceptibility locus for obesity. While many individual studies have suggested that physical activity (PA may attenuate the effect of FTO on obesity risk, other studies have not been able to confirm this interaction. To confirm or refute unambiguously whether PA attenuates the association of FTO with obesity risk, we meta-analyzed data from 45 studies of adults (n = 218,166 and nine studies of children and adolescents (n = 19,268.All studies identified to have data on the FTO rs9939609 variant (or any proxy [r(2>0.8] and PA were invited to participate, regardless of ethnicity or age of the participants. PA was standardized by categorizing it into a dichotomous variable (physically inactive versus active in each study. Overall, 25% of adults and 13% of children were categorized as inactive. Interaction analyses were performed within each study by including the FTO×PA interaction term in an additive model, adjusting for age and sex. Subsequently, random effects meta-analysis was used to pool the interaction terms. In adults, the minor (A- allele of rs9939609 increased the odds of obesity by 1.23-fold/allele (95% CI 1.20-1.26, but PA attenuated this effect (p(interaction  = 0.001. More specifically, the minor allele of rs9939609 increased the odds of obesity less in the physically active group (odds ratio  = 1.22/allele, 95% CI 1.19-1.25 than in the inactive group (odds ratio  = 1.30/allele, 95% CI 1.24-1.36. No such interaction was found in children and adolescents.The association of the FTO risk allele with the odds of obesity is attenuated by 27% in physically active adults, highlighting the importance of PA in particular in those genetically predisposed to obesity.

  5. Integrated Enrichment Analysis of Variants and Pathways in Genome-Wide Association Studies Indicates Central Role for IL-2 Signaling Genes in Type 1 Diabetes, and Cytokine Signaling Genes in Crohn's Disease

    Science.gov (United States)

    Carbonetto, Peter; Stephens, Matthew

    2013-01-01

    Pathway analyses of genome-wide association studies aggregate information over sets of related genes, such as genes in common pathways, to identify gene sets that are enriched for variants associated with disease. We develop a model-based approach to pathway analysis, and apply this approach to data from the Wellcome Trust Case Control Consortium (WTCCC) studies. Our method offers several benefits over existing approaches. First, our method not only interrogates pathways for enrichment of disease associations, but also estimates the level of enrichment, which yields a coherent way to promote variants in enriched pathways, enhancing discovery of genes underlying disease. Second, our approach allows for multiple enriched pathways, a feature that leads to novel findings in two diseases where the major histocompatibility complex (MHC) is a major determinant of disease susceptibility. Third, by modeling disease as the combined effect of multiple markers, our method automatically accounts for linkage disequilibrium among variants. Interrogation of pathways from eight pathway databases yields strong support for enriched pathways, indicating links between Crohn's disease (CD) and cytokine-driven networks that modulate immune responses; between rheumatoid arthritis (RA) and “Measles” pathway genes involved in immune responses triggered by measles infection; and between type 1 diabetes (T1D) and IL2-mediated signaling genes. Prioritizing variants in these enriched pathways yields many additional putative disease associations compared to analyses without enrichment. For CD and RA, 7 of 8 additional non-MHC associations are corroborated by other studies, providing validation for our approach. For T1D, prioritization of IL-2 signaling genes yields strong evidence for 7 additional non-MHC candidate disease loci, as well as suggestive evidence for several more. Of the 7 strongest associations, 4 are validated by other studies, and 3 (near IL-2 signaling genes RAF1, MAPK14

  6. Atmospheric circulation in regional climate models over Central Europe: links to surface air temperature and the influence of driving data

    International Nuclear Information System (INIS)

    Plavcova, Eva; Kysely, Jan

    2012-01-01

    The study examines simulation of atmospheric circulation, represented by circulation indices (flow direction, strength and vorticity), and links between circulation and daily surface air temperatures in regional climate models (RCMs) over Central Europe. We explore control simulations of five high-resolution RCMs from the ENSEMBLES project driven by re-analysis (ERA-40) and the same global climate model (ECHAM5 GCM) plus of one RCM (RCA) driven by different GCMs. The aims are to (1) identify errors in RCM-simulated distributions of circulation indices in individual seasons, (2) identify errors in simulated temperatures under particular circulation indices, and (3) compare performance of individual RCMs with respect to the driving data. Although most of the RCMs qualitatively reflect observed distributions of the airflow indices, each produces distributions significantly different from the observations. General biases include overestimation of the frequency of strong flow days and of strong cyclonic vorticity. Some circulation biases obviously propagate from the driving data. ECHAM5 and all simulations driven by ECHAM5 underestimate frequency of easterly flow, mainly in summer. Except for HIRHAM, however, all RCMs driven by ECHAM5 improve on the driving GCM in simulating atmospheric circulation. The influence on circulation characteristics in the nested RCM differs between GCMs, as demonstrated in a set of RCA simulations with different driving data. The driving data control on circulation in RCA is particularly weak for the BCM GCM, in which case RCA substantially modifies (but does not improve) the circulation from the driving data in both winter and summer. Those RCMs with the most distorted atmospheric circulation are HIRHAM driven by ECHAM5 and RCA driven by BCM. Relatively strong relationships between circulation indices and surface air temperatures were found in the observed data for Central Europe. The links differ by season and are usually stronger for

  7. Future weather types and their influence on mean and extreme climate indices for precipitation and temperature in Central Europe

    Directory of Open Access Journals (Sweden)

    Ulf Riediger

    2014-09-01

    Full Text Available In Central Europe, the spatial and temporal distributions of precipitation and temperature are determined by the occurrence of major weather types. In this paper, we examine climate indices (i.e. mean values or hot, cold, wet and dry days for different weather types in a recent (1971–2000 and future climate (2070–2099. The weather types are classified objectively for the control run and for the A1B scenario with an ensemble of eight global climate simulations (GCM to be compared with different reanalyses. To derive climate indices, the high-resolution, regionalized reference dataset HYRAS and an ensemble of nine regional climate simulations (RCM are used. Firstly, the reliability of simulated weather patterns and their climate indices are tested in the control period. The reanalyses circulation climatology can be reproduced well by the GCM ensemble mean. For temperature and precipitation, each climate index is characterized and evaluated in terms of defined weather patterns. The comparison of HYRAS and RCM data show reliable mean temperature values with differences between weather classes by +2$+2$ to -6$-6$ °C during winter (13 to 19 °C in summer. The analysis of observed and simulated precipitation reveal that mean winter precipitation is significantly influenced by the direction of air flow, while in summer, mesoscale atmospheric patterns of cyclonic rotation play a larger role. Secondly, the analysis of potential future changes simulated by the RCM ensemble were able to demonstrate that weather type changes, superior climate trends (such as mean warming and their interaction lead to major changes for precipitation and temperature in Central Europe. While temperature differences between cold and warm weather types are nearly stable over time, the ensemble temperature changes (with a range of +2$+2$ to +4$+4$ °C reinforce warm/hot conditions in the future winter and summer. Milder, wetter winters can be explained by an increased

  8. Atmospheric circulation in regional climate models over Central Europe: links to surface air temperature and the influence of driving data

    Energy Technology Data Exchange (ETDEWEB)

    Plavcova, Eva [Institute of Atmospheric Physics, Academy of Sciences of the Czech Republic, Prague 4 (Czech Republic); Technical University, Department of Applied Mathematics, Liberec (Czech Republic); Charles University, Faculty of Mathematics and Physics, Prague (Czech Republic); Kysely, Jan [Institute of Atmospheric Physics, Academy of Sciences of the Czech Republic, Prague 4 (Czech Republic); Technical University, Department of Applied Mathematics, Liberec (Czech Republic)

    2012-10-15

    The study examines simulation of atmospheric circulation, represented by circulation indices (flow direction, strength and vorticity), and links between circulation and daily surface air temperatures in regional climate models (RCMs) over Central Europe. We explore control simulations of five high-resolution RCMs from the ENSEMBLES project driven by re-analysis (ERA-40) and the same global climate model (ECHAM5 GCM) plus of one RCM (RCA) driven by different GCMs. The aims are to (1) identify errors in RCM-simulated distributions of circulation indices in individual seasons, (2) identify errors in simulated temperatures under particular circulation indices, and (3) compare performance of individual RCMs with respect to the driving data. Although most of the RCMs qualitatively reflect observed distributions of the airflow indices, each produces distributions significantly different from the observations. General biases include overestimation of the frequency of strong flow days and of strong cyclonic vorticity. Some circulation biases obviously propagate from the driving data. ECHAM5 and all simulations driven by ECHAM5 underestimate frequency of easterly flow, mainly in summer. Except for HIRHAM, however, all RCMs driven by ECHAM5 improve on the driving GCM in simulating atmospheric circulation. The influence on circulation characteristics in the nested RCM differs between GCMs, as demonstrated in a set of RCA simulations with different driving data. The driving data control on circulation in RCA is particularly weak for the BCM GCM, in which case RCA substantially modifies (but does not improve) the circulation from the driving data in both winter and summer. Those RCMs with the most distorted atmospheric circulation are HIRHAM driven by ECHAM5 and RCA driven by BCM. Relatively strong relationships between circulation indices and surface air temperatures were found in the observed data for Central Europe. The links differ by season and are usually stronger for

  9. Migraine Variants in Children

    Science.gov (United States)

    ... Headaches in Children FAQ Migraine Variants In Children Children Get Migraines Too! Learn More Migraine Information Find Help Doctors & Resources Get Connected Join the Conversation Follow Us on Social Media Company About News Resources Privacy Policy Contact Phone: ...

  10. Influences on domestic well water testing behavior in a Central Maine area with frequent groundwater arsenic occurrence.

    Science.gov (United States)

    Flanagan, Sara V; Marvinney, Robert G; Zheng, Yan

    2015-02-01

    In 2001 the Environmental Protection Agency (EPA) adopted a new standard for arsenic (As) in drinking water of 10 μg/L, replacing the old standard of 50 μg/L. However, for the 12% of the U.S. population relying on unregulated domestic well water, including half of the population of Maine, it is solely the well owner's responsibility to test and treat the water. A mailed household survey was implemented in January 2013 in 13 towns of Central Maine with the goal of understanding the population's testing and treatment practices and the key behavior influencing factors in an area with high well-water dependency and frequent natural groundwater As. The response rate was 58.3%; 525 of 900 likely-delivered surveys to randomly selected addresses were completed. Although 78% of the households reported that their well has been tested, half of it was more than 5 years ago. Among the 58.7% who believe they have tested for As, most do not remember the results. Better educated, higher income homeowners who more recently purchased their homes are most likely to have included As when last testing. While households agree that water and As-related health risks can be severe, they feel low personal vulnerability and there are low testing norms overall. Significant predictors of including As when last testing include: having knowledge that years of exposure increases As-related health risks (risk knowledge), knowing who to contact to test well water (action knowledge), believing that regular testing does not take too much time (instrumental attitude), and having neighbors who regularly test their water (descriptive norm). Homeowners in As-affected communities have the tendency to underestimate their As risks compared to their neighbors. The reasons for this optimistic bias require further study, but low testing behaviors in this area may be due to the influence of a combination of norm, ability, and attitude factors and barriers. Copyright © 2014 Elsevier B.V. All rights reserved.

  11. Combined impact of ocean acidification and corrosive waters in a river-influenced coastal upwelling area off Central Chile

    Science.gov (United States)

    Vargas, C.; De La Hoz, M.; San Martin, V.; Contreras, P.; Navarro, J. M.; Lagos, N. A.; Lardies, M.; Manríquez, P. H.; Torres, R.

    2012-12-01

    Elevated CO2 in the atmosphere promotes a cascade of physical and chemical changes affecting all levels of biological organization, and the evidence from local to global scales has shown that such anthropogenic climate change has triggered significant responses in the Earth's biota. The increased concentration of CO2 is likely to cause a corresponding increase in ocean acidification (OA). In addition, economically valuable shellfish species predominantly inhabit coastal regions both in natural stocks and/or in managed stocks and farming areas. Many coastal ecosystems may experience seawater pCO2 levels significantly higher than expected from equilibrium with the atmosphere, which in this case are strongly linked to biological processes and/or the impact of two important processes; river plumes and coastal upwelling events, which indeed interplay in a very dynamic way on continental shelves, resulting in both source or sink of CO2 to the atmosphere. Coastal ecosystems receive persistent acid inputs as a result of freshwater discharges from river basins into the coastal domain. In this context, since shellfish resources and shellfish aquaculture activities predominantly occur in nearshore areas, it is expected that shellfish species inhabiting river-influenced benthic ecosystems will be exposed persistently to acidic conditions that are suboptimal for its development. In a wider ecological context, little is also known about the potential impacts of acid waters on the performance of larvae and juveniles of almost all the marine species inhabiting this benthic ecosystem in Eastern Southern Pacific Ocean. We present here the main results of a research study aimed to investigate the environmental conditions to which economically valuable calcifiers shellfish species are exposed in a river-influenced continental shelf off Central Chile. By using isotopic measurements in the dissolved inorganic carbon (DIC) pool (d13C-DIC) we showed the effect of the remineralization of

  12. Assessment of Functional Effects of Unclassified Genetic Variants

    NARCIS (Netherlands)

    Couch, Fergus J.; Rasmussen, Lene Juel; Hofstra, Robert; Monteiro, Alvaro N. A.; Greenblatt, Marc S.; de Wind, Niels

    2008-01-01

    Inherited predisposition to disease is often linked to reduced activity of a disease associated gene product. Thus, quantitation of the influence of inherited variants on gene function can potentially be used to predict the disease relevance of these variants. While many disease genes have been

  13. Assessment of Functional Effects of Unclassified Genetic Variants

    NARCIS (Netherlands)

    Couch, Fergus J.; Rasmussen, Lene Juel; Hofstra, Robert; Monteiro, Alvaro N. A.; Greenblatt, Marc S.; de Wind, Niels

    Inherited predisposition to disease is often linked to reduced activity of a disease associated gene product. Thus, quantitation of the influence of inherited variants on gene function can potentially be used to predict the disease relevance of these variants. While many disease genes have been

  14. The central noradrenergic system

    African Journals Online (AJOL)

    2006-07-27

    Jul 27, 2006 ... recognition of a direct influence of the central noradrenergic system on peripheral ... influences on cerebral function and behavior it is impossible to imagine ... stimuli and to speed-up information processing.4. The influence of ...

  15. Inhibitor production by normal rat tracheal epithelial cells influences the frequency of spontaneous and X-ray-induced enhanced growth variants

    International Nuclear Information System (INIS)

    Terzaghi-Howe, M.

    1989-01-01

    A cell culture model was used to assay for the induction of cell populations with enhanced growth capacity in culture in irradiated normal rat tracheal epithelial cells (NTEC). Some growth conditions appear to favor the proliferation of both normal and carcinogen-exposed populations, while others appear to select for populations previously exposed to carcinogen. In the present report we focus on what growth conditions are critical for controlling the emergence of spontaneous and X-ray induced proliferating epithelial foci (PEF) and what factor(s) directly influences the relative frequency of PEF in irradiated and control NTEC cultures. (author)

  16. The invasive ctenophore Mnemiopsis leidyi in the central Baltic Sea: seasonal phenology and hydrographic influence on spatio-temporal distribution patterns

    DEFF Research Database (Denmark)

    Schaber, M.; Haslob, H.; Huwer, Bastian

    2011-01-01

    In the Western Baltic, the invasive ctenophore Mnemiopsis leidyi was recorded for the first time in autumn 2006. An eastward propagation of the ctenophore into the central Baltic, and thus into important spawning grounds of major Baltic fish stocks, was observed in 2007. The focus of the present...... distribution was mostly confined to water layers below the permanent halocline and significantly influenced by ambient temperature. Our results indicate that there is no self-sustaining population of M. leidyi in the central Baltic Sea. Instead, the species is most likely re-introduced into the Bornholm Basin...... every year via lateral advection from source populations in the Western Baltic. These findings are important not only to further assess the potential impact of M. leidyi on the pelagic ecosystem of the central Baltic Sea, but also for a better understanding of the mechanisms of its invasion into other...

  17. Stand and within-stand factors influencing Golden-winged Warbler use of regenerating stands in the central Appalachian Mountains

    Directory of Open Access Journals (Sweden)

    Marja H. Bakermans

    2015-06-01

    Full Text Available The Golden-winged Warbler (Vermivora chrysoptera is currently being considered for protected status under the U.S. Endangered Species Act. The creation of breeding habitat in the Appalachian Mountains is considered a conservation priority for this songbird, which is dependent on extensively forested landscapes with adequate availability of young forest. We modeled abundance of Golden-winged Warbler males in regenerating harvested forest stands that were 0-17 years postharvest at both mid-Appalachian and northeast Pennsylvania regional scales using stand and within-stand characteristics of 222 regenerating stands, 2010-2011. Variables that were most influential at the mid-Appalachian scale were different than those in the northeast region. Across the mid-Appalachian ecoregion, the proportion of young forest cover, i.e., shrub/scrub cover, within 1 km of regenerating stands best explained abundance of Golden-winged Warblers. Golden-winged Warbler response was best explained by a concave quadratic relationship in which abundance was highest with 5-15% land in young forest cover. We also found evidence that the amount of herbaceous cover, i.e., the amount of grasses and forbs, within a regenerating stand positively influenced abundance of Golden-winged Warblers. In northeastern Pennsylvania, where young forest cover is found in high proportions, the distance to the nearest regenerating stand best explained variation in abundance of Golden-winged Warblers. Abundance of Golden-winged Warblers was 1500 m away. When modeling within-stand features in the northeast region, many of the models were closely ranked, indicating that multiple variables likely explained Golden-winged Warbler response to within-stand conditions. Based on our findings, we have proposed several management guidelines for land managers interested in creating breeding habitat for Golden-winged Warblers using commercial timber operations. For example, we recommend when managing for

  18. Insights on organic aerosol aging and the influence of coal combustion at a regional receptor site of central eastern China

    Directory of Open Access Journals (Sweden)

    W. W. Hu

    2013-10-01

    Full Text Available In order to understand the aging and processing of organic aerosols (OA, an intensive field campaign (Campaign of Air Pollution at Typical Coastal Areas IN Eastern China, CAPTAIN was conducted March–April at a receptor site (a Changdao island in central eastern China. Multiple fast aerosol and gas measurement instruments were used during the campaign, including a high resolution time-of-flight aerosol mass spectrometer (HR-ToF-AMS that was applied to measure mass concentrations and non-refractory chemical components of submicron particles (PM1nr. The average mass concentration of PM1(PM1nr+black carbon was 47 ± 36 μg m−3 during the campaign and showed distinct variation, depending on back trajectories and their overlap with source regions. Organic aerosol (OA is the largest component of PM1 (30%, followed by nitrate (28%, sulfate (19%, ammonium (15%, black carbon (6%, and chloride (3%. Four OA components were resolved by positive matrix factorization (PMF of the high-resolution spectra, including low-volatility oxygenated organic aerosol (LV-OOA, semi-volatile oxygenated OA (SV-OOA, hydrocarbon-like OA (HOA and a coal combustion OA (CCOA. The mass spectrum of CCOA had high abundance of fragments from polycyclic aromatic hydrocarbons (PAHs (m/z 128, 152, 178, etc.. The average atomic ratio of oxygen to carbon in OA (O / C at Changdao was 0.59, which is comparable to other field studies reported at locations downwind of large pollution sources, indicating the oxidized nature of most OA during the campaign. The evolution of OA elemental composition in the van Krevelen diagram (H / C vs. O / C showed a slope of −0.63; however, the OA influenced by coal combustion exhibits a completely different evolution that appears dominated by physical mixing. The aging of organic aerosols vs. photochemical age was investigated. It was shown that OA / ΔCO, as well as LV-OOA / ΔCO and SV-OOA / ΔCO, positively correlated with photochemical age. LV

  19. Influence of the vertical position of maxillary central incisors on the perception of smile esthetics among orthodontists and laypersons.

    Science.gov (United States)

    Machado, Andre Wilson; McComb, Ryan W; Moon, Won; Gandini, Luiz Gonzaga

    2013-12-01

    The purpose of this study was to determine the perception of smile esthetics among orthodontists and laypeople with respect to different upper central incisor vertical positions in a frontal smile analysis. A frontal close-up smile photo of an adult Caucasian woman was selected. The patient had healthy upper anterior dentition and had no history of orthodontic treatment. Images were altered in order to create six different central incisor vertical positions in 0.5-mm increments. All images were assessed in three different views: full smile, gingival close-up excluding incisal edges, and incisal close-up excluding gingival margins. Images were randomly assembled in an album, which was given to 120 judges: 60 orthodontists and 60 laypersons. Each rater was asked to evaluate the attractiveness of the images using the visual analog scale. The data collected were then statistically analyzed. The highest rated smiles showed two notable characteristics: the central-to-lateral incisal step was 1.5 mm; and the central incisor gingival margins matched the laterals, and both were 0.5 mm below the line of the canine gingival margins. The least attractive smile was the one with no step between the centrals and laterals, and with the central incisor gingival margins 1.0 mm above the canine gingival margins. The results of this study indicate that slightly extruded upper central incisors are more esthetically preferred than intruded. The upper central incisors are the key determinant in evaluating smile esthetics, and thus, the assessment of their ideal vertical positioning is an aspect of paramount importance. © 2013 Wiley Periodicals, Inc.

  20. Sonographic findings predictive of central lymph node metastasis in patients with papillary thyroid carcinoma: influence of associated chronic lymphocytic thyroiditis on the diagnostic performance of sonography.

    Science.gov (United States)

    Yoo, Yeon Hwa; Kim, Jeong-Ah; Son, Eun Ju; Youk, Ji Hyun; Kwak, Jin Young; Kim, Eun-Kyung; Park, Cheong Soo

    2013-12-01

    To analyze sonographic findings suggesting central lymph node metastasis of papillary thyroid carcinoma and to evaluate the influence of associated chronic lymphocytic thyroiditis on the diagnostic performance of sonography for predicting central lymph node metastasis. A total of 124 patients (101 female and 23 male; mean age, 47.5 years; range, 21-74 years) underwent sonographically guided fine-needle aspiration in central lymph nodes from January 2008 to July 2011. Sonographic features of size, shape, margin, thickening of the cortex, cortical echogenicity, presence of a hilum, cystic changes, calcification, and vascularity of enlarged lymph nodes were analyzed before fine-needle aspiration and classified into 2 categories (probably benign and suspicious). Sonographic findings were correlated with the pathologic diagnosis and associated chronic lymphocytic thyroiditis. Receiver operating characteristic curve analysis was performed to assess the diagnostic performance of sonography for predicting central lymph node metastasis according to the associated thyroiditis. Fifty-one lymph nodes (39.5%) were malignant, and 73 (60.5%) were benign. On univariate analysis, size, shape, margin, cortical thickening, cortical echogenicity, cystic changes, calcification, and vascularity were significantly different between the benign and metastatic nodes (P thyroiditis-positive patients and 0.971 (95% CI, 0.938-1.000) in negative patients. Eccentric cortical thickening and cortical hyperechogenicity were the sonographic findings predictive of central lymph node metastasis from papillary thyroid carcinoma. The diagnostic performance of sonography for predicting metastasis was superior in chronic lymphocytic thyroiditis-negative patients than in positive patients.

  1. A rabies virus vampire bat variant shows increased neuroinvasiveness in mice when compared to a carnivore variant.

    Science.gov (United States)

    Mesquita, Leonardo Pereira; Gamon, Thais Helena Martins; Cuevas, Silvia Elena Campusano; Asano, Karen Miyuki; Fahl, Willian de Oliveira; Iamamoto, Keila; Scheffer, Karin Correa; Achkar, Samira Maria; Zanatto, Dennis Albert; Mori, Cláudia Madalena Cabrera; Maiorka, Paulo César; Mori, Enio

    2017-12-01

    Rabies is one of the most important zoonotic diseases and is caused by several rabies virus (RABV) variants. These variants can exhibit differences in neurovirulence, and few studies have attempted to evaluate the neuroinvasiveness of variants derived from vampire bats and wild carnivores. The aim of this study was to evaluate the neuropathogenesis of infection with two Brazilian RABV street variants (variant 3 and crab-eating fox) in mice. BALB/c mice were inoculated with RABV through the footpad, with the 50% mouse lethal dose (LD 50 ) determined by intracranial inoculation. The morbidity of rabies in mice infected with variant 3 and the crab-eating fox strain was 100% and 50%, respectively, with an incubation period of 7 and 6 days post-inoculation (dpi), respectively. The clinical disease in mice was similar with both strains, and it was characterized initially by weight loss, ruffled fur, hunched posture, and hind limb paralysis progressing to quadriplegia and recumbency at 9 to 12 dpi. Histological lesions within the central nervous system (CNS) characterized by nonsuppurative encephalomyelitis with neuronal degeneration and necrosis were observed in mice infected with variant 3 and those infected with the crab-eating fox variant. However, lesions and the presence of RABV antigen, were more widespread within the CNS of variant-3-infected mice, whereas in crab-eating fox-variant-infected mice, RABV antigens were more restricted to caudal areas of the CNS, such as the spinal cord and brainstem. In conclusion, the results shown here demonstrate that the RABV vampire bat strain (variant 3) has a higher potential for neuroinvasiveness than the carnivore variant.

  2. Histone variants and lipid metabolism

    NARCIS (Netherlands)

    Borghesan, Michela; Mazzoccoli, Gianluigi; Sheedfar, Fareeba; Oben, Jude; Pazienza, Valerio; Vinciguerra, Manlio

    2014-01-01

    Within nucleosomes, canonical histones package the genome, but they can be opportunely replaced with histone variants. The incorporation of histone variants into the nucleosome is a chief cellular strategy to regulate transcription and cellular metabolism. In pathological terms, cellular steatosis

  3. Aeolian and fluviolacustrine landforms and prehistoric human occupation on a tectonically influenced floodplain margin, the Méma, central Mali

    Science.gov (United States)

    B. Makaske; E. De Vries; J. A. Tainter; R. J. McIntosh

    2007-01-01

    The Méma is a semi-arid region in central Mali with a rich archaeological heritage indicating the former existence of large urban settlements. The archaeological data suggest millennia of occupation history of the Méma preceding relatively sudden abandonment by the 14th or 15th century AD. Population numbers have remained low since then and today...

  4. The influence of Government’s role and workforce’s competence towards the construction workforce performance in Central Sulawesi

    Science.gov (United States)

    Nirmalawati; Labombang, Mastura

    2018-05-01

    The performance of construction workforce should be enhanced, as it is a form of success of Central Sulawesi government in optimizing its management of construction workforces. The quality of construction workforces is when the proliferation of competence meets the standard. This research aims to identify the relationship between the role of the government and workforce competence in the advancement of construction workforce performance. This research used the quantitative method with the descriptive-correlation approach. The population in this research includes contractors, field observers, and project owner that conduct construction works in Central Sulawesi. The data collection in this research is conducted by distributing questionnaires directly to 42 respondents. The data analysis is done with statistics with the support of SPSS software. The result of the study shows that the role factor of the government has a powerful effect of 0401 on the performance of local workforce, while the competence of the construction workforce is 0.264 to the labor performance. Based on the research result, it is suggested that the policymakers, particularly in Central Sulawesi, take advantage of the research result as a reference in supervising and enhancing the performance of construction workforce in Central Sulawesi.

  5. Aeolian and fluviolacustrine landforms and prehistoric human occupation on a tectonically influenced floodplain margin, the Méma, central Mali

    NARCIS (Netherlands)

    Makaske, B.; Vries, de E.; Tainter, J.A.; McIntosh, R.J.

    2007-01-01

    The Méma is a semi-arid region in central Mali with a rich archaeological heritage indicating the former existence of large urban settlements. The archaeological data suggest millennia of occupation history of the Méma preceding relatively sudden abandonment by the 14th or 15th century AD.

  6. Historical Influences and a Modern Alternative for Leadership Models in Central Asia = Orta Asya'da Liderlik Modellerinde Tarihsel Etkiler ve Modern Alternatifler

    Directory of Open Access Journals (Sweden)

    Sean Michael COX

    2002-06-01

    Full Text Available The 1991 demise of the Soviet Union that led to the emancipation of many Central Asian states, also led to a grab for power by a variety of leadership types. Although the characteristics of leadership types in the 1990s were diverse, few followed the pattern of Samuel Huntington's Third Wave of authoritarian transition, whereby authoritarian regimes were abandoned in favor of democratically elected and democratically oriented governments. Historically, Eurasia has had little experience with popular government. This is reflected in the general characteristics of leadership types in the post-Soviet era, which closely follow three regional historical influences - the early Islamic Emperors, the Mongolian Khans and the Russian Tsars (and later Soviet leaders. This article examines the historic influences on Eurasian leadership types and the impact of these types on the politics, societies and economies of these same states. It will be argued that at the current stage of political development, it would ultimately benefit the states of Central Asia to follow, at this time, the most successful Eurasian model to date, that of Kemal Atatürk and Turkey, rather than to push for a fully participatory democracy or sustain the post-Soviet personal dictatorships that have prospered throughout Central Asia.

  7. Anti-N-methyl-d-aspartate receptor encephalitis in children of Central South China: Clinical features, treatment, influencing factors, and outcomes.

    Science.gov (United States)

    Wang, Ying; Zhang, Weixi; Yin, Jinghua; Lu, Qianjin; Yin, Fei; He, Fang; Peng, Jing

    2017-11-15

    We analyzed the clinical manifestations of children with anti-N-methyl-d-aspartate receptor (anti-NMDAR) encephalitis in Central South China and the factors influencing the effectiveness of treatment. A retrospective study of children (0-14years old) with anti-NMDAR encephalitis in Central South China was carried out from March 2014 to November 2016. Demographics, clinical features, treatment, outcome, and the factors influencing the effectiveness of treatment were reviewed. Fifty-one patients with anti-NMDAR encephalitis were enrolled (age from 4months to 14years old; median age, 8years; 30 females). Forty-five patients (88%) presented with psychiatric symptoms, 40 (78%) with dyskinesia and movement disorders, 39 (77%) with sleep disturbances, 34 (67%) with seizures, 30 (59%) with a decreased level of consciousness (Glasgow scoreanti-NMDAR encephalitis in Central South China. Patients with decreased consciousness, PICU stay and autonomic instability were more likely to have no or limited response to first-line immunotherapy and to require second-line or even more aggressive immunotherapy. Children with anti-NMDAR encephalitis in China have a much lower incidence of tumors, lower mortality rates, and a lower proportion of lethal autonomic instability than adults. Copyright © 2017 Elsevier B.V. All rights reserved.

  8. A comparative assessment of the biological properties of soils in the cultural and native cenoses of the Central Caucasus (using the example of the Terskii variant of altitudinal zonality in Kabardino-Balkaria)

    Science.gov (United States)

    Gorobtsova, O. N.; Gedgafova, F. V.; Uligova, T. S.; Tembotov, R. Kh.

    2016-01-01

    The biological properties of the most widespread automorphic and hydromorphic soils of cultural and native cenoses in the Terskii variant of the altitudinal zonality (Kabardino-Balkaria) are compared. The data on the humus reserves in the 0- to 20-cm soil layer and those on the carbon content in the microbial biomass calculated on the basis of the results of substrate-induced respiration measurements are presented. The share of carbon in the microbial biomass of the total organic carbon in the soils was determined. Long-term (more than 70 years) farming on the studied soils significantly changed their biological properties. The humus content and its reserves became lower by 25-40%. The physiological activity of the microbial biomass in the cultural soils decreased by more than 60%. Presently, the soils of the cultural cenoses function as an entire natural system, but at a lower level of fertility; the loss of more than 30% of the bioorganic potential (the critical threshold of soil system stability) indicates the disturbance of soil ecological functions, their stability, and the capability of self-restoration.

  9. Variants of glycoside hydrolases

    Science.gov (United States)

    Teter, Sarah [Davis, CA; Ward, Connie [Hamilton, MT; Cherry, Joel [Davis, CA; Jones, Aubrey [Davis, CA; Harris, Paul [Carnation, WA; Yi, Jung [Sacramento, CA

    2011-04-26

    The present invention relates to variants of a parent glycoside hydrolase, comprising a substitution at one or more positions corresponding to positions 21, 94, 157, 205, 206, 247, 337, 350, 373, 383, 438, 455, 467, and 486 of amino acids 1 to 513 of SEQ ID NO: 2, and optionally further comprising a substitution at one or more positions corresponding to positions 8, 22, 41, 49, 57, 113, 193, 196, 226, 227, 246, 251, 255, 259, 301, 356, 371, 411, and 462 of amino acids 1 to 513 of SEQ ID NO: 2 a substitution at one or more positions corresponding to positions 8, 22, 41, 49, 57, 113, 193, 196, 226, 227, 246, 251, 255, 259, 301, 356, 371, 411, and 462 of amino acids 1 to 513 of SEQ ID NO: 2, wherein the variants have glycoside hydrolase activity. The present invention also relates to nucleotide sequences encoding the variant glycoside hydrolases and to nucleic acid constructs, vectors, and host cells comprising the nucleotide sequences.

  10. Socioeconomic and familial characteristics influence caretakers' adherence to the periodic vitamin A capsule supplementation program in Central Java, Indonesia.

    Science.gov (United States)

    Pangaribuan, Rosnani; Scherbaum, Veronika; Erhardt, Jürgen G; Sastroamidjojo, Soemilah; Biesalski, Hans K

    2004-06-01

    The adherence of program participants to periodic vitamin A capsule (VAC) supplementation among children aged 1-5 years (n = 677) in Central Java, Indonesia was assessed. Fourteen villages from five sub-districts and one ward from one sub-district in Central Java were included in the study to represent rural and suburban areas. All questions about demographic factors, socioeconomic conditions, current dietary practice and healthcare-seeking attitudes for common childhood illnesses, previous breastfeeding experience, their knowledge about vitamin A and adherence to the VAC program after capsule distribution (two periods in 2000) were asked. Caretakers with limited knowledge about the health benefits of vitamin A, households with more than one preschool child, and households with older children (> 36 months) were associated with a decreased likelihood of regular participation in the program with odds ratios of 0.38, 0.55, and 0.26, respectively (p program regularly with an odds ratio of 2.02 (p program.

  11. Genetic variants at chromosomes 2q35, 5p12, 6q25.1, 10q26.13, and 16q12.1 influence the risk of breast cancer in men.

    Directory of Open Access Journals (Sweden)

    Nick Orr

    2011-09-01

    Full Text Available Male breast cancer accounts for approximately 1% of all breast cancer. To date, risk factors for male breast cancer are poorly defined, but certain risk factors and genetic features appear common to both male and female breast cancer. Genome-wide association studies (GWAS have recently identified common single nucleotide polymorphisms (SNPs that influence female breast cancer risk; 12 of these have been independently replicated. To examine if these variants contribute to male breast cancer risk, we genotyped 433 male breast cancer cases and 1,569 controls. Five SNPs showed a statistically significant association with male breast cancer: rs13387042 (2q35 (odds ratio (OR  = 1.30, p = 7.98×10⁻⁴, rs10941679 (5p12 (OR = 1.26, p = 0.007, rs9383938 (6q25.1 (OR = 1.39, p = 0.004, rs2981579 (FGFR2 (OR = 1.18, p = 0.03, and rs3803662 (TOX3 (OR = 1.48, p = 4.04×10⁻⁶. Comparing the ORs for male breast cancer with the published ORs for female breast cancer, three SNPs--rs13387042 (2q35, rs3803662 (TOX3, and rs6504950 (COX11--showed significant differences in ORs (p<0.05 between sexes. Breast cancer is a heterogeneous disease; the relative risks associated with loci identified to date show subtype and, based on these data, gender specificity. Additional studies of well-defined patient subgroups could provide further insight into the biological basis of breast cancer development.

  12. 'A major lobbying effort to change and unify the excise structure in six Central American countries': How British American Tobacco influenced tax and tariff rates in the Central American Common Market.

    Science.gov (United States)

    Holden, Chris; Lee, Kelley

    2011-05-19

    Transnational tobacco companies (TTCs) may respond to processes of regional trade integration both by acting politically to influence policy and by reorganising their own operations. The Central American Common Market (CACM) was reinvigorated in the 1990s, reflecting processes of regional trade liberalisation in Latin America and globally. This study aimed to ascertain how British American Tobacco (BAT), which dominated the markets of the CACM, sought to influence policy towards it by member country governments and how the CACM process impacted upon BAT's operations. The study analysed internal tobacco industry documents released as a result of litigation in the US and available from the online Legacy Tobacco Documents Library at http://legacy.library.ucsf.edu/. Documents were retrieved by searching the BAT collection using key terms in an iterative process. Analysis was based on an interpretive approach involving a process of attempting to understand the meanings of individual documents and relating these to other documents in the set, identifying the central themes of documents and clusters of documents, contextualising the documentary data, and choosing representative material in order to present findings. Utilising its multinational character, BAT was able to act in a coordinated way across the member countries of the CACM to influence tariffs and taxes to its advantage. Documents demonstrate a high degree of access to governments and officials. The company conducted a coordinated, and largely successful, attempt to keep external tariff rates for cigarettes high and to reduce external tariffs for key inputs, whilst also influencing the harmonisation of excise taxes between countries. Protected by these high external tariffs, it reorganised its own operations to take advantage of regional economies of scale. In direct contradiction to arguments presented to CACM governments that affording the tobacco industry protection via high cigarette tariffs would safeguard

  13. 'A major lobbying effort to change and unify the excise structure in six Central American countries': How British American Tobacco influenced tax and tariff rates in the Central American Common Market

    Directory of Open Access Journals (Sweden)

    Holden Chris

    2011-05-01

    Full Text Available Abstract Background Transnational tobacco companies (TTCs may respond to processes of regional trade integration both by acting politically to influence policy and by reorganising their own operations. The Central American Common Market (CACM was reinvigorated in the 1990s, reflecting processes of regional trade liberalisation in Latin America and globally. This study aimed to ascertain how British American Tobacco (BAT, which dominated the markets of the CACM, sought to influence policy towards it by member country governments and how the CACM process impacted upon BAT's operations. Methods The study analysed internal tobacco industry documents released as a result of litigation in the US and available from the online Legacy Tobacco Documents Library at http://legacy.library.ucsf.edu/. Documents were retrieved by searching the BAT collection using key terms in an iterative process. Analysis was based on an interpretive approach involving a process of attempting to understand the meanings of individual documents and relating these to other documents in the set, identifying the central themes of documents and clusters of documents, contextualising the documentary data, and choosing representative material in order to present findings. Results Utilising its multinational character, BAT was able to act in a coordinated way across the member countries of the CACM to influence tariffs and taxes to its advantage. Documents demonstrate a high degree of access to governments and officials. The company conducted a coordinated, and largely successful, attempt to keep external tariff rates for cigarettes high and to reduce external tariffs for key inputs, whilst also influencing the harmonisation of excise taxes between countries. Protected by these high external tariffs, it reorganised its own operations to take advantage of regional economies of scale. In direct contradiction to arguments presented to CACM governments that affording the tobacco industry

  14. Influence of implant position on clinical crown length and peri-implant soft tissue dimensions at implant-supported single crowns replacing maxillary central incisors

    DEFF Research Database (Denmark)

    Peng, Min; Fei, Wei; Hosseini, Mandana

    2013-01-01

    The aims of the present study were to evaluate the influence of implant position on clinical crown length and marginal soft tissue dimensions at implant-supported single crowns of maxillary central incisors, and to validate the papilla index score (PIS). Twenty-five patients, who had lost one of ...... abutments and did not necessarily result in an increased crown length. The distal implant papilla heightwas obviously shorter, althoughthe mesial papilla height was similar to thatof the healthy dentition.The papilla index score was tested to be a valid index for papilla fill....

  15. Sr isotope stratigraphy of some Rupelian carbonated laminites from the Limagne Basin: influence of seawater in the rift of the French Massif central?

    International Nuclear Information System (INIS)

    Briot, D.; Poidevin, J.L.

    1998-01-01

    87 Sr/ 86 Sr ratios of biogenic and abiotic calcites Upper Rupelian sediments in the Limagne rift (French Massif Central) define a smooth and regular negative correlation with time interrupted by repetitive sharp peaks; the progressive drop in isotopic ratio can be explained by the geological evolution of the river basin through time. Negative peaks are explained by synsedimentary volcanism, repeated marine incursions, or leaching of ancient evaporites. Comparison with available paleontologic data does not favour the volcanic explanation, but rather the influence of Rupelian marine waters. (authors)

  16. Epiphytic lichen diversity in central European oak forests: Assessment of the effects of natural environmental factors and human influences

    International Nuclear Information System (INIS)

    Svoboda, David; Peksa, Ondrej; Vesela, Jana

    2010-01-01

    We investigated lichen diversity in temperate oak forests using standardized protocols. Forty-eight sites were sampled in the Czech Republic, Slovakia and Hungary. The effects of natural environmental predictors and human influences on lichen diversity (lichen diversity value, species richness) were analysed by means of correlation tests. We found that lichen diversity responded differently to environmental predictors between two regions with different human impact. In the industrial region, air pollution was the strongest factor. In the agricultural to highly forested regions, lichen diversity was strongly influenced by forest age and forest fragmentation. We found that several natural factors can in some cases obscure the effect of human influences. Thus, factors of naturality gradient must be considered (both statistically and interpretively) when studying human impact on lichen diversity. - We detected the different responses of lichens to ecological predictors in polluted and unpolluted areas.

  17. Influence of IL1B, IL6 and IL10 gene variants and plasma fatty acid interaction on metabolic syndrome risk in a cross-sectional population-based study.

    Science.gov (United States)

    Maintinguer Norde, Marina; Oki, Erica; Ferreira Carioca, Antonio Augusto; Teixeira Damasceno, Nágila Raquel; Fisberg, Regina Mara; Lobo Marchioni, Dirce Maria; Rogero, Marcelo Macedo

    2018-04-01

    Metabolic syndrome (MetS) is a cluster of interrelated risk factors for type 2 diabetes mellitus, and cardiovascular disease, with underlying inflammatory pathophysiology. Genetic variations and diet are well-known risk factor for MetS, but the interaction between these two factors is less explored. The aim of the study was to evaluate the influence of interaction between SNP of inflammatory genes (encoding interleukin (IL)-6, IL-1β and IL-10) and plasma fatty acids on the odds of MetS, in a population-based cross-sectional study. Among participants of the Health Survey - São Paulo, 301 adults (19-59 y) from whom a blood sample was collected were included. Individuals with and without MetS were compared according to their plasma inflammatory biomarkers, fatty acid profile, and genotype frequency of the IL1B (rs16944, rs1143623, rs1143627, rs1143634 and rs1143643), IL6 (rs1800795, rs1800796 and rs1800797) and IL10 (rs1554286, rs1800871, rs1800872, rs1800890 and rs3024490) genes SNP. The influence of gene-fatty acids interaction on MetS risk was investigated. IL6 gene SNP rs1800795 G allele was associated with higher odds for MetS (OR = 1.88; p = 0.017). Gene-fatty acid interaction was found between the IL1B gene SNP rs116944 and stearic acid (p inter = 0.043), and between rs1143634 and EPA (p inter = 0.017). For the IL10 gene SNP rs1800896, an interaction was found for arachidonic acid (p inter = 0.007) and estimated D5D activity (p inter = 0.019). The IL6 gene SNP rs1800795 G allele is associated with increased odds for MetS. Plasma fatty acid profile interacts with the IL1B and IL10 gene variants to modulate the odds for MetS. This and other interactions of risk factors can account for the unexplained heritability of MetS, and their elucidation can lead to new strategies for genome-customized prevention of MetS. Copyright © 2017 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.

  18. Influence of the 5-HT3A Receptor Gene Polymorphism and Childhood Sexual Trauma on Central Serotonin Activity.

    Directory of Open Access Journals (Sweden)

    Kuk-In Jang

    Full Text Available Gene-environment interactions are important for understanding alterations in human brain function. The loudness dependence of auditory evoked potential (LDAEP is known to reflect central serotonergic activity. Single nucleotide polymorphisms (SNPs in the 5-HT3A serotonin receptor gene are associated with psychiatric disorders. This study aimed to investigate the effect between 5-HT3A receptor gene polymorphisms and childhood sexual trauma on the LDAEP as an electrophysiological marker in healthy subjects.A total of 206 healthy subjects were recruited and evaluated using the childhood trauma questionnaire (CTQ and hospital anxiety and depression scale (HADS. Peak-to-peak N1/P2 was measured at five stimulus intensities, and the LDAEP was calculated as the linear-regression slope. In addition, the rs1062613 SNPs of 5-HT3A (CC, CT, and TT were analyzed in healthy subjects.There was a significant interaction between scores on the CTQ-sexual abuse subscale and 5-HT3A genotype on the LDAEP. Subjects with the CC polymorphism had a significantly higher LDEAP than T carriers in the sexually abused group. In addition, CC genotype subjects in the sexually abused group showed a significantly higher LDAEP compared with CC genotype subjects in the non-sexually abused group.Our findings suggest that people with the CC polymorphism of the 5-HT3A gene have a greater risk of developing mental health problems if they have experienced childhood sexual abuse, possibly due to low central serotonin activity. Conversely, the T polymorphism may be protective against any central serotonergic changes following childhood sexual trauma.

  19. Site Amplification in the Central U.S.: Towards and understanding of factors influencing the site effect

    Science.gov (United States)

    Yassminh, R.; Sandvol, E. A.

    2017-12-01

    We have mapped site amplification using a Reverse Two Station (RTS) approach across much of the Central United States. We have found several unexpected results including a lack of amplification in Paleozoic basins such as the Illinois and Michigan basins. In general, we found that the amplification of high frequency regional waves is related to the topography. We also suggest that the HVSR spectra are primarily a function of the shallow velocity structure. The Central United States Seismic Observatory (CUSSO) is a vertical seismic array located adjacent to the central segment of the NMSZ. CUSSO data gives us the opportunity to understand the amplification of the ground motion at different depths within the uppermost crust. Simulating ground motions throughout the CUSSO borehole and examining the factors affecting the ground amplification, such as the velocity and thicknesses of the model layers and the source sizes, is an effective way to understand the role different factors playing in modifying the ground motion for both the local and regional seismic phases. We have used the spectral-element method (SEMs) with a 1D crustal velocity structure derived from logging data taken from CUSSO borehole. This model is comprised of near surface sediment layers and a Paleozoic basement. Utilizing the software package SPECFEM2D with virtual seismometers located on the surface and in the bottom of the different sediment layers, we have computed the true synthetic site amplification for frequencies between 0.01-3 Hz. For the local model, we have tested the sensitivity of the ground motion amplification to the source magnitude. For frequencies>0.6, the ground motions have been amplified with decreasing the magnitudes while for HZ2Hz.

  20. Bayesian detection of causal rare variants under posterior consistency.

    KAUST Repository

    Liang, Faming

    2013-07-26

    Identification of causal rare variants that are associated with complex traits poses a central challenge on genome-wide association studies. However, most current research focuses only on testing the global association whether the rare variants in a given genomic region are collectively associated with the trait. Although some recent work, e.g., the Bayesian risk index method, have tried to address this problem, it is unclear whether the causal rare variants can be consistently identified by them in the small-n-large-P situation. We develop a new Bayesian method, the so-called Bayesian Rare Variant Detector (BRVD), to tackle this problem. The new method simultaneously addresses two issues: (i) (Global association test) Are there any of the variants associated with the disease, and (ii) (Causal variant detection) Which variants, if any, are driving the association. The BRVD ensures the causal rare variants to be consistently identified in the small-n-large-P situation by imposing some appropriate prior distributions on the model and model specific parameters. The numerical results indicate that the BRVD is more powerful for testing the global association than the existing methods, such as the combined multivariate and collapsing test, weighted sum statistic test, RARECOVER, sequence kernel association test, and Bayesian risk index, and also more powerful for identification of causal rare variants than the Bayesian risk index method. The BRVD has also been successfully applied to the Early-Onset Myocardial Infarction (EOMI) Exome Sequence Data. It identified a few causal rare variants that have been verified in the literature.

  1. Bayesian detection of causal rare variants under posterior consistency.

    Directory of Open Access Journals (Sweden)

    Faming Liang

    Full Text Available Identification of causal rare variants that are associated with complex traits poses a central challenge on genome-wide association studies. However, most current research focuses only on testing the global association whether the rare variants in a given genomic region are collectively associated with the trait. Although some recent work, e.g., the Bayesian risk index method, have tried to address this problem, it is unclear whether the causal rare variants can be consistently identified by them in the small-n-large-P situation. We develop a new Bayesian method, the so-called Bayesian Rare Variant Detector (BRVD, to tackle this problem. The new method simultaneously addresses two issues: (i (Global association test Are there any of the variants associated with the disease, and (ii (Causal variant detection Which variants, if any, are driving the association. The BRVD ensures the causal rare variants to be consistently identified in the small-n-large-P situation by imposing some appropriate prior distributions on the model and model specific parameters. The numerical results indicate that the BRVD is more powerful for testing the global association than the existing methods, such as the combined multivariate and collapsing test, weighted sum statistic test, RARECOVER, sequence kernel association test, and Bayesian risk index, and also more powerful for identification of causal rare variants than the Bayesian risk index method. The BRVD has also been successfully applied to the Early-Onset Myocardial Infarction (EOMI Exome Sequence Data. It identified a few causal rare variants that have been verified in the literature.

  2. Bayesian detection of causal rare variants under posterior consistency.

    KAUST Repository

    Liang, Faming; Xiong, Momiao

    2013-01-01

    Identification of causal rare variants that are associated with complex traits poses a central challenge on genome-wide association studies. However, most current research focuses only on testing the global association whether the rare variants in a given genomic region are collectively associated with the trait. Although some recent work, e.g., the Bayesian risk index method, have tried to address this problem, it is unclear whether the causal rare variants can be consistently identified by them in the small-n-large-P situation. We develop a new Bayesian method, the so-called Bayesian Rare Variant Detector (BRVD), to tackle this problem. The new method simultaneously addresses two issues: (i) (Global association test) Are there any of the variants associated with the disease, and (ii) (Causal variant detection) Which variants, if any, are driving the association. The BRVD ensures the causal rare variants to be consistently identified in the small-n-large-P situation by imposing some appropriate prior distributions on the model and model specific parameters. The numerical results indicate that the BRVD is more powerful for testing the global association than the existing methods, such as the combined multivariate and collapsing test, weighted sum statistic test, RARECOVER, sequence kernel association test, and Bayesian risk index, and also more powerful for identification of causal rare variants than the Bayesian risk index method. The BRVD has also been successfully applied to the Early-Onset Myocardial Infarction (EOMI) Exome Sequence Data. It identified a few causal rare variants that have been verified in the literature.

  3. Atmospheric circulation in regional climate models over Central Europe: links to surface air temperature and the influence of driving data

    Czech Academy of Sciences Publication Activity Database

    Plavcová, Eva; Kyselý, Jan

    2012-01-01

    Roč. 39, 7-8 (2012), s. 1681-1695 ISSN 0930-7575 R&D Project s: GA ČR GAP209/10/2265 Grant - others:ENSEMBLES: EU-FP6(XE) 505539 Program:FP6 Institutional support: RVO:68378289 Keywords : Regional climate models * Global climate models * Atmospheric circulation * Surface air temperature * ENSEMBLES * Central Europe Subject RIV: DG - Athmosphere Sciences, Meteorology Impact factor: 4.231, year: 2012 http://link.springer.com/article/10.1007%2Fs00382-011-1278-8#

  4. Influence of irrigation on the attack from some insects to sugarcane in the central zone of Cuba

    Directory of Open Access Journals (Sweden)

    Carlos Alberto Hernández Medina

    2014-07-01

    Full Text Available It was studied, in several experiments with different irrigation levels, by graveness and by aspersion,the incidence of Diatraea saccharalis (Fab., Elasmopalpus lignosellus . Zeller. and Saccharosydne saccharivora. Westwood. on sugarcane. Damage caused by borer increased in varieties Ja60-5, B72-74, C1051-73 and C266-70 with application irrigation by graveness and in the variety C 87-51 with irrigation by aspersion with machine of central pivot. Affectations of antillean grasshopper had similar answer to irrigation. However irrigation by furrows caused significant decrease in attack of ratoons smaller borer to the three evaluated varieties.

  5. SOME FACTORS INFLUENCING THE INCOME OF KALIGESING GOAT FARMERS IN BOROBUDUR SUBDISTRICT, MAGELANG REGENCY, CENTRAL JAVA, INDONESIA

    Directory of Open Access Journals (Sweden)

    A. Setiadi

    2012-12-01

    Full Text Available The objectives of study to determine the income is obtained by Kaligesing goat farmer and to determine the effect of some factors on the income. Survey method was conducted in this study, 47 (forty seven farmers in Giripurno village, Borobudur subdistrict, Magelang regency through interview and observation. Secondary and primary data were obtained to answer the objective. Respondent characteristic, total revenue, total cost production, and total income were observed for 6 months observation. Descriptive analysis and one sample t-test was used to analyze the data. Path analysis with TETRAD IV was used to determine the model. Dairy goat farmer in the study area rear goat were 10 heads on average. Total revenue obtained was IDR 4,975,500, Total cost spent was IDR 1,865,200, and Total income was IDR 3,110,300. Milk price and quality of the milk have influenced the number of milk sold. The number of milk sold has influenced the income significantly. Milk price has influenced directly to the income while quality of milk has not directly influenced the income of farmer. Hence, improvement of quality of goat milk through diet manipulation is needed.

  6. Influence of catchment quality and altitude on the water and sediment composition of 68 small lakes in Central Europe

    NARCIS (Netherlands)

    Müller, B.; Lotter, A.F.; Sturm, M.; Ammann, A.

    1998-01-01

    68 lakes (63 Swiss, 2 French and 3 Italian) located in an altitudinal range between 334 and 2339 m spanning a wide range of land-use have been investigated. The aim of the study was to discuss influences of geographic location, vegetation and land-use in the catchment area on the water

  7. The Influence of Industrial Air Pollution Forest Lichens at Tomaszów Mazowiecki Region (Central Poland

    Directory of Open Access Journals (Sweden)

    Krystyna Czyżewska

    2014-08-01

    Full Text Available The influence of mixed gases pollution (SO2, H2S and CS2 on epiphytic and epixylic lichens growing on Pinus sylvestris in the nature conditions is the matter of consideration. In the case of some lichens, e.g. Lecanora conizaeoides, Scoliciosporum chlorococcum and Thelocarpon laureri the toxitolerant to the air pollution is proved by the authoress.

  8. Study of the influence of central nuclear power plants at Valdaliga (Civitavecchia) on the chemical composition of local rain

    International Nuclear Information System (INIS)

    Bargagli, A.; Morabito, R.; Basili, N.; Tidei, F.

    1989-05-01

    Data from a wet deposition sampling over the area collocated nearby Civitavecchia power plants are here presented and discussed. In order to establish the possible influence of the power plants emission on the chemical composition of the rain collected, the experimental data have been correlated with synoptic and local meteorological conditions. (author)

  9. Influences of riverine and upwelling waters on the coastal carbonate system off Central Chile and their ocean acidification implications

    Science.gov (United States)

    Vargas, Cristian A.; Contreras, Paulina Y.; Pérez, Claudia A.; Sobarzo, Marcus; Saldías, Gonzalo S.; Salisbury, Joe

    2016-06-01

    A combined data set, combining data from field campaigns and oceanographic cruises, was used to ascertain the influence of both river discharges and upwelling processes, covering spatial and temporal variation in dissolved inorganic carbon (DIC) and aragonite saturation state. This work was conducted in one of the most productive river-influenced upwelling areas in the South Pacific coasts (36°S). Additionally, further work was also conducted to ascertain the contribution of different DIC sources, influencing the dynamics of DIC along the land-ocean range. Six sampling campaigns were conducted across seven stations at the Biobío River basin, covering approximately 200 km. Three research cruises were undertaken simultaneously, covering the adjacent continental shelf, including 12 sampling stations for hydrographic measurements. Additionally, six stations were also sampled for chemical analyses, covering summer, winter, and spring conditions over 2010 and 2011. Our results evidenced that seaward extent of the river plume was more evident during the winter field campaign, when highest riverine DIC fluxes were observed. The carbonate system along the river-ocean continuum was very heterogeneous varying over spatial and temporal scales. High DIC and pCO2 were observed in river areas with larger anthropogenic effects. CO2 supersaturation at the river plume was observed during all campaigns due to the influence of low pH river waters in winter/spring and high-pCO2 upwelling waters in summer. δ13CDIC evidenced that main DIC sources along the river and river plume corresponded to the respiration of terrestrial organic matter. We have linked this natural process to the carbonate saturation on the adjacent river-influenced coastal area, suggesting that Ωaragonite undersaturation in surface/subsurface waters is largely modulated by the influence of both river discharge and coastal upwelling events in this productive coastal area. Conditions of low Ωaragonite might impact

  10. Accurate genotyping across variant classes and lengths using variant graphs

    DEFF Research Database (Denmark)

    Sibbesen, Jonas Andreas; Maretty, Lasse; Jensen, Jacob Malte

    2018-01-01

    of read k-mers to a graph representation of the reference and variants to efficiently perform unbiased, probabilistic genotyping across the variation spectrum. We demonstrate that BayesTyper generally provides superior variant sensitivity and genotyping accuracy relative to existing methods when used...... collecting a set of candidate variants across discovery methods, individuals and databases, and then realigning the reads to the variants and reference simultaneously. However, this realignment problem has proved computationally difficult. Here, we present a new method (BayesTyper) that uses exact alignment...... to integrate variants across discovery approaches and individuals. Finally, we demonstrate that including a ‘variation-prior’ database containing already known variants significantly improves sensitivity....

  11. Influence of visual control, conduction, and central integration on static and dynamic balance in healthy older adults.

    Science.gov (United States)

    Perrin, P P; Jeandel, C; Perrin, C A; Béné, M C

    1997-01-01

    Aging is associated with decreased balance abilities, resulting in an increased risk of fall. In order to appreciate the visual, somatosensory, and central signals involved in balance control, sophisticated methods of posturography assessment have been developed, using static and dynamic tests, eventually associated with electromyographic measurements. We applied such methods to a population of healthy older adults in order to appreciate the respective importance of each of these sensorial inputs in aging individuals. Posture control parameters were recorded on a force-measuring platform in 41 healthy young (age 28.5 +/- 5.9 years) and 50 older (age 69.8 +/- 5.9 years) adults, using a static test and two dynamic tests performed by all individuals first with eyes open, then with eyes closed. The distance covered by the center of foot pressure, sway area, and anteroposterior oscillations were significantly higher, with eyes open or closed, in older people than in young subjects. Significant differences were noted in dynamic tests with longer latency responses in the group of old people. Dynamic recordings in a sinusoidal test had a more regular pattern when performed eyes open in both groups and evidenced significantly greater instability in old people. These data suggest that vision remains important in maintaining postural control while conduction and central integration become less efficient with age.

  12. Peripheral Tissue Involvement in Sporadic, Iatrogenic, and Variant Creutzfeldt-Jakob Disease

    Science.gov (United States)

    Head, Mark W.; Ritchie, Diane; Smith, Nadine; McLoughlin, Victoria; Nailon, William; Samad, Sazia; Masson, Stephen; Bishop, Matthew; McCardle, Linda; Ironside, James W.

    2004-01-01

    Human prion diseases are rare fatal neurodegenerative conditions that occur as acquired, familial, or idiopathic disorders. A key event in their pathogenesis is the accumulation of an altered form of the prion protein, termed PrPSc, in the central nervous system. A novel acquired human prion disease, variant Creutzfeldt-Jakob disease, is thought to result from oral exposure to the bovine spongiform encephalopathy agent. This disease differs from other human prion diseases in its neurological, neuropathological, and biochemical phenotype. We have used immunohistochemistry and Western blot techniques to analyze the tissue distribution and biochemical properties of PrPSc in peripheral tissues in a unique series of nine cases of variant Creutzfeldt-Jakob disease. We have compared this with the distribution and biochemical forms found in all of the major subtypes of sporadic Creutzfeldt-Jakob disease and in a case of iatrogenic Creutzfeldt-Jakob disease associated with growth hormone therapy. The results show that involvement of the lymphoreticular system is a defining feature of variant Creutzfeldt-Jakob disease, but that the biochemical isoform of PrPSc found is influenced by the cell type in which it accumulates. PMID:14695328

  13. Monoamine related functional gene variants and relationships to monoamine metabolite concentrations in CSF of healthy volunteers

    Directory of Open Access Journals (Sweden)

    Propping Peter

    2004-03-01

    Full Text Available Abstract Background Concentrations of monoamine metabolites in human cerebrospinal fluid (CSF have been used extensively as indirect estimates of monoamine turnover in the brain. CSF monoamine metabolite concentrations are partly determined by genetic influences. Methods We investigated possible relationships between DNA polymorphisms in the serotonin 2C receptor (HTR2C, the serotonin 3A receptor (HTR3A, the dopamine D4 receptor (DRD4, and the dopamine β-hydroxylase (DBH genes and CSF concentrations of 5-hydroxyindolacetic acid (5-HIAA, homovanillic acid (HVA, and 3-methoxy-4-hydroxyphenylglycol (MHPG in healthy volunteers (n = 90. Results The HTR3A 178 C/T variant was associated with 5-HIAA levels (p = 0.02. The DBH-1021 heterozygote genotype was associated with 5-HIAA (p = 0.0005 and HVA (p = 0.009 concentrations. Neither the HTR2C Cys23Ser variant, nor the DRD4 -521 C/T variant were significantly associated with any of the monoamine metabolites. Conclusions The present results suggest that the HTR3A and DBH genes may participate in the regulation of dopamine and serotonin turnover rates in the central nervous system.

  14. Influence of geological variations on lignite drying kinetics in superheated steam atmosphere for Belchatow deposit located in the central Poland

    Directory of Open Access Journals (Sweden)

    Sciazko Anna

    2016-01-01

    Full Text Available Lignite-fired coal power plants suffer from a significant heat loss due to the high moisture content in this energy carrier. Water removal from fuel is an indispensable treatment for improving the combustion process, which will foster the efficient utilization of lignite. Superheated steam fluidized bed drying is expected for this purpose in a power generation sector. Understanding drying kinetics of lignite will greatly reinforce design process of a dryer. Physical features as well as the drying behaviour may be divergent among the lignite originated from different depths and positions in a certain mine. To reveal and clarify the influence of the geological features, the drying characteristics of several grades of lignite from the Belchatow mine in Poland were investigated. The attempts to clarify the influence of the divergent properties of the investigated samples on the drying kinetics in superheated steam were presented in this paper.

  15. Factors influencing access to finance by SMEs in Mozambique: Case of SMEs in Maputo central business district

    OpenAIRE

    Osano, Hezron Mogaka; Languitone, Hilario

    2016-01-01

    SMEs play an important role in the economic development of Mozambique. Access to finance is important for the growth of SMEs. Thus, the purpose of the study was to establish the factors that influence access to finance by SMEs. The factors that were addressed included structure of financial sector, awareness of funding opportunities, collateral requirements, and small business support services. The target population was 2725 which comprised of 2075 staff of three Banks, namely BIM Bank, BCI B...

  16. Influence of Geomorphology on the Physiognomy of Colophospermum mopane and its Effect on Browsing in Central Namibia

    OpenAIRE

    TESHIROGI, Koki

    2010-01-01

    Colophospermum mopane is a characteristic tree species indigenous to Southern Africa, where it forms 'mopane vegetation.' Mopane plays an important role in livestock farming, and the physiognomy of mopane influences the availability of feed. This study clarified the relationship between the difference in mopane physiognomy and the browsing activity of goats with reference to geomorphology. The physiognomy of mopane corresponded to geomorphological characteristics of surface structures and soi...

  17. Factors that can influence feelings towards and interactions with people living with HIV/AIDS in rural Central Kenya.

    Science.gov (United States)

    Kingori, Caroline; Haile, Zelalem T; Ngatia, Peter; Nderitu, Ruth

    2017-08-01

    Background In Kenya, HIV incidence and prevalence have declined. HIV rates are lower in rural areas than in urban areas. However, HIV infection is reported higher in men in rural areas (4.5%) compared to those in urban areas (3.7%). Objectives This study examined HIV knowledge, feelings, and interactions towards HIV-infected from 302 participants in rural Central Kenya. Methods Chi square tests and multivariable logistic regression analyzed variables of interest. Results Most participants exhibited positive feelings in their interaction with people living with HIV and AIDS (PLWHA). Association between HIV knowledge and socio-demographic characteristics revealed that the proportion of participants with a correct response differed by gender, age, level of education, and marital status ( p risk populations from the general population is needed to reduce stigma.

  18. Abrupt change of the mid-summer climate in central east China by the influence of atmospheric pollution

    International Nuclear Information System (INIS)

    Qun Xu

    2001-01-01

    Following the great flooding of summer 1998, the mid-lower Yangtze Basin further suffered from another large flooding in summer 1999. Successive droughts through three recent summers (1997-1999) appeared in north China in addition, leading to an abnormal summer climate pattern of ''north drought with south flooding''. Such southward move of the summer monsoon rainy belt in east China started in the late 1970s-early 1980s. Its main cause may not be a purely natural climate change, but the acceleration of industrialization in east China could play a major role by emitting large volumes of SO 2 , especially from the rapidly growing rural factories of east China. The annual release of SO 2 in China exceeded 20Tg during 1992-1998, so dense sulfate aerosols covered the central east China which significantly reduced the sunlight. Although present estimates for the changes of clear sky global solar radiation may include some error, they show that the negative radiative forcing of sulfate aerosols in central east China by far exceeds the effect of greenhouse warming in summer. Hence the mid-summer monsoon rainy belt of east China has a trend moving southward in 21 recent years (1979-1999), showing the very sensitive characteristic of the summer monsoon system to the change in heat equilibrium of the land surface. The occurrence rate of summer climate pattern of ''north drought with south flooding'' in east China during 21 recent years is the largest since AD 950; such anomalous climate has brought large losses to China. The only possible way to reverse this southward trend of summer monsoon rainy belt is to significantly reduce air pollution by using more clean energy. Recently, the PRC has paid serious attention to this problem by adopting a series of countermeasures. (author)

  19. Erodibility of calcareous soils as influenced by land use and intrinsic soil properties in a semiarid region of central Iran.

    Science.gov (United States)

    Ayoubi, Shamsollah; Mokhtari, Javad; Mosaddeghi, Mohammad Reza; Zeraatpisheh, Mojtaba

    2018-03-06

    The most important properties affecting the soil loss and runoff were investigated, and the effects of land use on the soil properties, together with the erodibility indices in a semiarid zone, central Iran, were evaluated. The locations of 100 positions were acquired by cLHS and 0-5-cm surface soil layer samples were used for laboratory analyses from the Borujen Region, Chaharmahal-Va-Bakhtiari Province, central Iran. To measure in situ runoff and soil erodibility of three different land uses comprising dryland, irrigated farming, and rangeland, a portable rainfall simulator was used. The results showed that the high variations (coefficient of variation, CV) were obtained for electrical conductivity (EC), mean weight diameter (MWD), soil organic carbon (SOC), and soil erodibility indices including runoff volume, soil loss, and sediment concentration (CV ~ 43.6-77.4%). Soil erodibility indices showed positive and significant correlations with bulk density and negative correlations with SOC, MWD, clay content, and soil shear strength in the area under investigation. The values of runoff in the dryland, irrigated farming, and rangeland were found 1.5, 28.9, and 58.7 cm 3 ; soil loss in the dryland, irrigated farming, and rangeland were observed 0.25, 2.96, and 76.8 g; and the amount of sediment concentration in the dryland, irrigated farming, and rangeland were found 0.01, 0.11, and 0.15 g cm -3 . It is suggested that further investigations should be carried out on soil erodibility and the potential of sediment yield in various land uses with varying topography and soil properties in semiarid regions of Iran facing the high risk of soil loss.

  20. Influence of sex and age on febrile responses to peripheral and central administration of pyrogens in the rabbit.

    Science.gov (United States)

    Lipton, J M; Ticknor, C B

    1979-10-01

    1. Intravenous injections of leucocytic pyrogen in doses of 15, 30 and 60 mul./kg caused febrile reactions in male rabbits that were related to age of the animal: rabbits under 2 yr of age developed fevers that were related to dose of pyrogen, while rabbits 2-3 yr old showed large febrile responses which were not dose-related.2. Female rabbits of comparable ages generally showed smaller febrile reactions to I.V. leucocytic pyrogen, and still older females (3-5 yr) developed fever only after the largest dose.3. Dose-related febrile responses to 2.5, 5 and 10 mul. leucocytic pyrogen given intracerebroventricularly (I.C.V.) were greater in male rabbits 1-3 yr old than in females of comparable age. Female rabbits 3-5 yr old showed dose-related fevers that were smaller than those of younger animals of both sexes.4. There were no major differences in response to 125, 250 and 500 ng PGE(2), given I.C.V., between male and female rabbits under 2 yr of age. Females 2-3 yr of age had greater responses to PGE(2) than males of comparable age whilst the oldest females showed smaller responses.5. It is concluded that the febrile response of the rabbit to peripheral and central leucocytic pyrogen varies with both age and sex. Differences in sensitivity of central fever controls to endogenous pyrogen in animals of different ages and sexes may account for the different responses to peripheral pyrogen.

  1. Multiscale analyses on a massive immigration process of Sogatella furcifera (Horváth) in south-central China: influences of synoptic-scale meteorological conditions and topography.

    Science.gov (United States)

    Wu, Qiu-Lin; Westbrook, John K; Hu, Gao; Lu, Ming-Hong; Liu, Wan-Cai; Sword, Gregory A; Zhai, Bao-Ping

    2018-04-30

    Mass landings of migrating white-backed planthopper, Sogatella furcifera (Horváth), can lead to severe outbreaks that cause heavy losses for rice production in East Asia. South-central China is the main infestation area on the annual migration loop of S. furcifera between the northern Indo-China Peninsula and mainland China; however, rice planthopper species are not able to survive in this region over winter. In this study, a trajectory analysis of movements from population source areas and a spatiotemporal dynamic analysis of mesoscale and synoptic weather conditions from 7 to 10 May 2012 were conducted using the weather research and forecasting (WRF) model to identify source areas of immigrants and determine how weather and topographic terrain influence insect landing. A sensitivity experiment was conducted with reduced topography using the WRF model to explain the associations among rainfall, topography, and light-trap catches of S. furcifera. The trajectory modeling results suggest that the source areas of S. furcifera immigrants into south-central China from 8 to 10 May were mainly southern Guangxi, northern Vietnam, and north-central Vietnam. The appearance of enormous catches of immigrant S. furcifera coincided with a period of rainstorms. The formation of transporting southerly winds was strongly associated with the topographic terrain. Additionally, the rainfall distribution and intensity over south-central China significantly decreased when topography was reduced in the model and were directly affected by wind circulation, which was associated with mountainous terrain that caused strong convection. This study indicates that migrating populations of S. furcifera were carried by the southwesterly low-level jets and that topographically induced convergent winds, precipitation, low temperatures, and wind shear acted as key factors that led to massive landings.

  2. Multiscale analyses on a massive immigration process of Sogatella furcifera (Horváth) in south-central China: influences of synoptic-scale meteorological conditions and topography

    Science.gov (United States)

    Wu, Qiu-Lin; Westbrook, John K.; Hu, Gao; Lu, Ming-Hong; Liu, Wan-Cai; Sword, Gregory A.; Zhai, Bao-Ping

    2018-04-01

    Mass landings of migrating white-backed planthopper, Sogatella furcifera (Horváth), can lead to severe outbreaks that cause heavy losses for rice production in East Asia. South-central China is the main infestation area on the annual migration loop of S. furcifera between the northern Indo-China Peninsula and mainland China; however, rice planthopper species are not able to survive in this region over winter. In this study, a trajectory analysis of movements from population source areas and a spatiotemporal dynamic analysis of mesoscale and synoptic weather conditions from 7 to 10 May 2012 were conducted using the weather research and forecasting (WRF) model to identify source areas of immigrants and determine how weather and topographic terrain influence insect landing. A sensitivity experiment was conducted with reduced topography using the WRF model to explain the associations among rainfall, topography, and light-trap catches of S. furcifera. The trajectory modeling results suggest that the source areas of S. furcifera immigrants into south-central China from 8 to 10 May were mainly southern Guangxi, northern Vietnam, and north-central Vietnam. The appearance of enormous catches of immigrant S. furcifera coincided with a period of rainstorms. The formation of transporting southerly winds was strongly associated with the topographic terrain. Additionally, the rainfall distribution and intensity over south-central China significantly decreased when topography was reduced in the model and were directly affected by wind circulation, which was associated with mountainous terrain that caused strong convection. This study indicates that migrating populations of S. furcifera were carried by the southwesterly low-level jets and that topographically induced convergent winds, precipitation, low temperatures, and wind shear acted as key factors that led to massive landings.

  3. Variants of Moreau's sweeping process

    International Nuclear Information System (INIS)

    Siddiqi, A.H.; Manchanda, P.

    2001-07-01

    In this paper we prove the existence and uniqueness of two variants of Moreau's sweeping process -u'(t) is an element of Nc (t) (u(t)), where in one variant we replace u(t) by u'(t) in the right-hand side of the inclusion and in the second variant u'(t) and u(t) are respectively replaced by u''(t) and u'(t). (author)

  4. THE INFLUENCE OF THE SIZE OF THE ECONOMY AND EUROPEAN INTEGRATION ON FOREIGN DIRECT INVESTMENTS IN THE CENTRAL, SOUTHEASTERN AND EASTERN EUROPEAN STATES 1994-2013

    Directory of Open Access Journals (Sweden)

    Petar Kurecic

    2016-03-01

    Full Text Available The paper studies the interdependence of the economy size and foreign direct investments (FDI in the transitional economies of Central, Southeastern and Eastern Europe. In the global capitalist economy, foreign direct investments (FDI represent one of the key determinants of economic growth. Among some transitional economies, in the last 20 years, FDI represented one of factors that increased the economic growth, and in other transitional economies, the influence of FDI was minor or even negligible. In the literature devoted to the influence of FDI on economies, the research about the determinants of geographical pattern of FDI distribution usually focuses on the factors that determine why some states manage to draw FDI in higher levels than some other states. Our research focused on the transitional economies of Central, Southeastern and Eastern Europe, which were for the most part of the last 20 years net receivers of the FDI. Only a couple of these countries in the years of the current economic crisis have experienced FDI net outflow. Among the states studied, we have equally studied the EU members, as well as the non-EU members. We have tried to find similarities and differences between these two groups of states in order to determine the influence of EU membership on FDI per capita and how it correlates with the size of the state’s economy. We have also tried to answer the question of how much the GDP growth rate correlates to the FDI net inflow share in GDP for EU and non-EU members. The methodology is based on the statistical correlation between FDI in current US dollars and GDP per capita in current US dollars (World Bank data for each represented state, through the surveyed period from 1994 until 2013. The statistical correlation matrix (Pearson method determined whether any correlation between the average GDP growth rate (chain index and the average share of FDI in GDP per each state exists for each state surveyed.

  5. Influence of religious affiliation and education on HIV knowledge and HIV-related sexual behaviors among unmarried youth in rural central Mozambique.

    Science.gov (United States)

    Noden, Bruce H; Gomes, Aurelio; Ferreira, Aldina

    2010-10-01

    The interactions between religious affiliation, education, HIV knowledge, and HIV-related sexual behaviors among African church youth are poorly understood. In this socio-demographic study, 522 unmarried youth 12-28 years old in rural central Mozambique were surveyed with a structured questionnaire. Using binary logistic regression analysis, we used religious affiliation and education to measure influence on (1) HIV transmission and prevention knowledge and attitudes and (2) HIV-related sexual behaviors among youth. Religiously affiliated males were more likely than non-religious males to know when a condom should be used, respond correctly to HIV transmission questions and respond with less stigma to HIV-related scenarios. Increased levels of education among males corresponded significantly to increased knowledge of condom usage and HIV prevention strategies and less likelihood to respond with stigma. Only education levels influenced young female responses. Religious affiliation and education had minimal effects on sexual activity, condom usage, and multiple partnerships. African Independent Church/Zionist males were 1.6 times more likely to be sexually inexperienced than non-religious males but were also significantly less likely to use condoms (0.23, p=0.024). Non-religious youth were most likely to have visited sex workers and did not use condoms. These results suggest that religious affiliation, possibly as the result of educational opportunities afforded by religious-affiliated schools, is contributing to increased HIV transmission and prevention knowledge among youth in rural Central Mozambique but not influencing HIV-related sexual behavior. The need exists to strengthen the capacity of religious congregations to teach about HIV/AIDS and target non-religious youth with HIV transmission and prevention information.

  6. Hairy cell leukemia-variant

    International Nuclear Information System (INIS)

    Quadri, Mohammad I.; Al-Sheikh, Iman H.

    2001-01-01

    Hairy cell leukaemia variant is a very rare chronic lymphoproliferative disorder and is closely related to hairy cell leukemia. We hereby describe a case of hairy cell leukaemia variant for the first time in Saudi Arabia. An elderly Saudi man presented with pallor, massive splenomegaly, and moderate hepatomegaly. Hemoglobin was 7.7 g/dl, Platelets were 134 x109/l and white blood count was 140x10 9/l with 97% being abnormal lymphoid cells with cytoplasmic projections. The morphology, cytochemistry, and immunophenotype of the lymphoid cells were classical of hairy cell leukaemia variant. The bone marrow was easily aspirated and findings were consistent with hairy cell leukaemia variant. (author)

  7. [Change of character of intersystemic interactions in newborn rat pups under conditions of a decrease of central influences (urethane anesthesia)].

    Science.gov (United States)

    Kuznetsov, S V; Sizonov, V A; Dmitrieva, L E

    2014-01-01

    On newborn rat pups, for the first day after birth, there was studied the character of mutual influences between the slow-wave rhythmical components of the cardiac, respiratory, and motor activities reflecting interactions between the main functional systems of the developing organism. The study was carried out in norm and after pharmacological depression of the spontaneous periodical motor activity (SPMA) performed by narcotization of rat pups with urethane at low (0.5 g/kg, i/p) and maximal (1 g/kg, i/p) doses. Based on the complex of our obtained data, it is possible to conclude that after birth in rat pups the intersystemic interactions are realized mainly by the slow-wave oscillations of the near- and manyminute diapason. The correlational interactions mediated by rhythms of the decasecond diapason do not play essential role in integrative processes. Injection to the animals of urethane producing selective suppression of reaction of consciousness, but not affecting activating influences of reticular formation on cerebral cortex does not cause marked changes of autonomous parameters, but modulates structure and expression of spontaneous periodical motor activity. There occurs an essential decrease of mutual influences between motor and cardiovascular systems. In the case of preservation of motor activity bursts, a tendency for enhancement of correlational relations between the modulating rhythms of motor and somatomotor systems is observed. The cardiorespiratory interactions, more pronounced in intact rat pups in the near- and many-minute modulation diapason, under conditions of urethane, somewhat decrease, whereas the rhythmical components of the decasecond diapason--are weakly enhanced.

  8. Attitudes of the Citizens of the Central Part of Serbia towards the Influence of Immigrants on Local Culture and Tradition

    Directory of Open Access Journals (Sweden)

    Milica Vesković Anđelković

    2015-08-01

    Full Text Available There has been an increasing number of immigrants arriving to Serbia from various places ever since the end of the last century. It is primarily a forced displaced population from war affected territories in the 1990s who have still been living in Serbia even two decades after completion of the conflict and the relative normalization of relations. Furthermore, the number of asylum seekers and irregular migrants has also enormously increased. Since demographic forecasts and experiences of other former socialistic countries show that migration transition towards immigration is to be expected in the coming decades, especially with the formal EU membership, it seems there is a need for greater visibilisation of this phenomenon in order to be adequately prepared to face these challenges. The aim of this paper is to provide an overview of the geopolitical position of Serbia and lay down the long-term prospects regarding immigration as well as to shed light on the attitudes of Serbian citizens towards immigrants, especially when it comes to their influence on the local culture, customs and everyday life. The data presented and analysed were collected by field survey research carried out by the Institute for Sociological Research of the Faculty of Philosophy in Belgrade in 2013. Besides analysing attitudes of the local population concerning the influence of refugees, the authors also examine their opinion on the foreigners’ impact on culture and everyday life in local communities.

  9. The Influence of Prescribed Fire, Habitat, and Weather on Amblyomma americanum (Ixodida: Ixodidae in West-Central Illinois, USA

    Directory of Open Access Journals (Sweden)

    Mary E. Gilliam

    2018-03-01

    Full Text Available The distribution of Amblyomma americanum (L. is changing and reports of tick-borne disease transmitted by A. americanum are increasing in the USA. We used flagging to collect ticks, surveyed vegetation and collected weather data in 2015 and 2016. A. americanum dominated collections in both years (97%. Ticks did not differ among burn treatments; however, tick abundance differed between years among total, adult, and larval ticks. Habitat variables showed a weak negative correlation to total ticks in respect to: Shannon diversity index, percent bare ground, perennial cover, and coarse woody debris. Nymphal ticks showed a weak negative correlation to percent bare ground and fewer adults were collected in areas with more leaf litter and coarse woody debris. Conversely, we found larvae more often in areas with more total cover, biennials, vines, shrubs, and leaf litter, suggesting habitat is important for this life stage. We compared weather variables to tick presence and found, in 2015, temperature, precipitation, humidity, and sample period influenced tick collection and were life stage specific. In 2016, temperature, precipitation, humidity, wind, and sample period influenced tick collection and were also life stage specific. These results indicate that spring burns in an oak woodland do not reduce ticks; other variables such as habitat and weather are more influential on tick abundance or presence at different life stages.

  10. Product Variant Master as a Means to Handle Variant Design

    DEFF Research Database (Denmark)

    Hildre, Hans Petter; Mortensen, Niels Henrik; Andreasen, Mogens Myrup

    1996-01-01

    be implemented in the CAD system I-DEAS. A precondition for high degree of computer support is identification of a product variant master from which new variants can be derived. This class platform defines how a product build up fit certain production methods and rules governing determination of modules...

  11. The influence of environmental conditions on early life stages of flounder (Platichthys flesus) in the central Baltic Sea

    Science.gov (United States)

    Ustups, Didzis; Müller-Karulis, Bärbel; Bergstrom, Ulf; Makarchouk, Andrej; Sics, Ivo

    2013-01-01

    Flounder (Platichthys flesus) is a temperate marine fish that is well adapted to the brackish waters of the Baltic Sea. There are two sympatric flounder populations in the Baltic Sea, pelagic and demersal spawners, which differ in their spawning habitat and egg characteristics. In the present study, pelagic spawning flounder of the central Baltic Sea was studied. We examined whether variations in hydrological regime can explain fluctuations in flounder early life stages that have occurred over the past 30 years (1970-2005). Using generalized additive modeling to explain the abundance of flounder eggs and larvae in a Latvian ichthyoplankton dataset, we evaluate the hypothesis that the available reproductive volume, defined as the water column with dissolved oxygen larger than 1 ml/l and salinity between 10.6 and 12 PSU, affects the survival of flounder ichthyoplankton and determines recruitment success. Both reproductive volume and spawning stock biomass were significant factors determining flounder ichthyoplankton abundance. Different measures of water temperature did not contribute significantly to the variability of eggs or larvae. However, recruitment did not correlate to the supply of larvae. The findings presented in this study on the relationship between flounder reproduction, spawning stock biomass and reproductive volume, as well as the lack of correlation to recruitment, are valuable for the understanding of flounder ecology in the Baltic Sea, and for developing the management of the species.

  12. Mesoscale modeling of smoke transport over Central Africa: influences of trade winds, subtropical high, ITCZ and vertical statistics

    Science.gov (United States)

    Yang, Z.; Wang, J.; Hyer, E. J.; Ichoku, C. M.

    2012-12-01

    A fully-coupled meteorology-chemistry-aerosol model, Weather Research and Forecasting model with Chemistry (WRF-Chem), is used to simulate the transport of smoke aerosol over the Central Africa during February 2008. Smoke emission used in this study is specified from the Fire Locating and Modeling of Burning Emissions (FLAMBE) database derived from Moderate Resolution Imaging Spectroradiometer (MODIS) fire products. Model performance is evaluated using MODIS true color images, measured Aerosol Optical Depth (AOD) from space-borne MODIS (550 nm) and ground-based AERONET (500 nm), and Cloud-Aerosol Lidar data with Orthogonal Polarization (CALIOP) level 1 and 2 products. The simulated smoke transport is in good agreement with the validation data. Analyzing from three smoke events, smoke is constrained in a narrow belt between the Equator and 10°N near the surface, with the interplay of trade winds, subtropical high, and ITCZ. At the 700 hpa level, smoke expands farther meridionally. Topography blocks the smoke transport to the southeast of study area, because of high mountains located near the Great Rift Valley region. The simulation with injection height of 650 m is consistent with CALIOP measurements. The particular phenomenon, aerosol above cloud, is studied statistically from CALIOP observations. The total percentage of aerosol above cloud is about 5%.

  13. Urbanization is a major influence on microplastic ingestion by sunfish in the Brazos River Basin, Central Texas, USA

    International Nuclear Information System (INIS)

    Peters, Colleen A.; Bratton, Susan P.

    2016-01-01

    Microplastics, degraded and weathered polymer-based particles, and manufactured products ranging between 50 and 5000 μm in size, are found within marine, freshwater, and estuarine environments. While numerous peer-reviewed papers have quantified the ingestion of microplastics by marine vertebrates, relatively few studies have focused on microplastic ingestion by freshwater organisms. This study documents microplastic and manufactured fiber ingestion by bluegill (Lepomis macrochirus) and longear (Lepomis megalotis) sunfish (Centrarchidae) from the Brazos River Basin, between Lake Whitney and Marlin, Texas, USA. Fourteen sample sites were studied and categorized into urban, downstream, and upstream areas. A total of 436 sunfish were collected, and 196 (45%) stomachs contained microplastics. Four percent (4%) of items sampled were debris on the macro size scale (i.e. >5 mm) and consisted of masses of plastic, metal, Styrofoam, or fishing material, while 96% of items sampled were in the form of microplastic threads. Fish length was statistically correlated to the number of microplastics detected (p = 0.019). Fish collected from urban sites displayed the highest mean number of microplastics ingested, followed by downstream and upstream sites. Microplastics were associated with the ingestion of other debris items (e.g. sand and wood) and correlated to the ingestion of fish eggs, earthworms, and mollusks, suggesting that sunfish incidentally ingest microplastics during their normal feeding methods. The high frequency of microplastic ingestion suggest that further research is needed to determine the residence time of microplastics within the stomach and gut, potential for food web transfer, and adverse effects on wildlife and ecosystemic health. - Highlights: • Sunfish ingest microplastics and manufactured materials at significant levels. • Local urbanization influences microplastic ingestion. • Sunfish incidentally ingest microplastics during their normal

  14. Oceanic influence on extreme rainfall trends in the north central coast of Venezuela: present and future climate assessments

    Directory of Open Access Journals (Sweden)

    Lelys Guenni

    2013-10-01

    Full Text Available Extreme events are an important part of climate variability and their intensity and persistence are often modulated by large scale climatic patterns which might act as forcing drivers affecting their probability of occurrence. When the North Tropical Atlantic (NTA and the Equatorial Pacific (Ni\\~no 3 region sea surface temperature (SST anomalies are of opposite signs and the first one is positive while the second one is negative, the rainfall response is stronger in the northern coast of Venezuela as well as in the Pacific coast of Central America during the Nov-Feb period. The difference between these two SST anomaly time series (NTA-Ni\\~no3 is used in this analysis and it is called the Atlantic-Pacific Index or API. By fitting a dynamic generalized extreme value (GEV model to station based daily rainfall at different locations and to the Xie and Arkin dataset for the Vargas state, we found the API index to be an adequate index to explain the probabilistic nature of rainfall extremes in the northern Venezuelan coast for the months Nov-Feb. Dependence between the Atlantic-Pacific index and the probabilistic behavior of extreme rainfall was also explored for simulations from two global coupled General Circulation Models for the 20th century climate (20C3M experiment and the 21st century climate (SRES A2 experiment: the Echam5 model and the HadCM3 model. A significant dependence of extreme rainfall on the Atlantic-Pacific index is well described by the GEV dynamic model for the Echam5 20C3M experiment model outputs. When looking at future climates under the SRES A2 experiment, the dependence of extreme rainfall from the API index is still significant for the middle part of the 21st century (2046-2064, while this dependence fades off for the latest part of the century (2081-2099

  15. How coastal upwelling influences spatial patterns of size-structured diversity of copepods off central-southern Chile (summer 2009)

    Science.gov (United States)

    Hidalgo, Pamela; Escribano, Ruben; Fuentes, Marcelo; Jorquera, Erika; Vergara, Odette

    2012-01-01

    This study assessed the structure of the copepod community in the upper 200 m of the coastal upwelling region off central-southern Chile in late summer 2009. Vertically stratified zooplankton samples and hydrographic variables were obtained from 42 stations over the continental shelf and oceanic areas. The survey took place during active upwelling, reflected by a cold upwelling plume extending out to 150 km offshore. A total of 62 copepod species were found. Of these, Oithona similis and Paracalanusindicus accounted for ca. 60% of the whole community. Species richness ( R) and the Shannon-Wiener diversity index ( H‧) were estimated, and the latter was additionally modified to incorporate the effect of copepod size on diversity ( H‧ s). Samples were analyzed for two depth strata (0-50, 50-200 m) and for day vs. night conditions. Significant effects of day vs. night and strata on R, H‧ and H‧ s indicated that diel vertical migration between these two layers was an important source of variation in the zooplankton community. H‧ s seemed to represent copepod diversity better than R and H‧ over the spatial scale. H‧ s was also closely linked to colder upwelled water and the depth of the oxygen minimum zone following a principal component analysis. A positive relationship was even detected between depth of the oxygen minimum zone and H‧ s when strata and day/night effects were excluded. Our findings suggested that the coastal upwelling process could be an important driver of copepod diversity in this region. Upwelling leads to changes in the depth of the oxygen minimum zone and these changes impact the community composition due to species-dependent tolerances to low oxygen water.

  16. Analysis of intrinsic and extrinsic factors influencing the dynamics of bovine Eimeria spp. from central-eastern Poland.

    Science.gov (United States)

    Tomczuk, Krzysztof; Grzybek, Maciej; Szczepaniak, Klaudiusz; Studzińska, Maria; Demkowska-Kutrzepa, Marta; Roczeń-Karczmarz, Monika; Klockiewicz, Maciej

    2015-11-30

    Eimeria infections are common in cattle worldwide, however, little is known about the invasion dynamics of this unicellular parasite. Therefore, the aim of this study was to analyze intrinsic (host age) and extrinsic (herd size and management system) factors influencing the dynamics of Eimeria spp. found in calves from CE Poland. Fecal samples were collected from 356 calves from different types of management systems and from different herd sizes. Flotation and McMaster method were used for parasitological investigation. Oocysts were differentiated on the basis of morphological criteria. Eight Eimeria species were identified and mean species richness (MSR) was significantly affected by host age. The highest MSR was noted for middle age animals. There was an association between species, with a highly significant co-occurrence of Eimeria bovis with Eimeria zuernii. The presence of E. bovis significantly increased the percentage of individuals carrying E. zuernii. The presence of E. bovis significantly increased the percentage of individuals carrying Eimeria canadensis. The overall prevalence of Eimeria spp. reached 52.8% and was significantly affected by the age of cows, with the highest prevalence in animals between 5-10 months old. The most prevalent species were E. bovis (37.4%), E. zuernii (19.9%) and E. canadensis (12.1%). The prevalence of E. bovis was affected by host age (the highest prevalence in age class 2 animals) and management type (the highest prevalence in individuals raised in groups). The prevalence of E. zuernii was affected by age (the lowest prevalence was noted in the oldest individuals) and herd size (individuals infected were present only in the middle and large size herds), whereas the prevalence of E. canadensis was affected by all three factors. Overall, mean OPG of the combined Eimeria spp. was 458.84 (37.93) and differed significantly between age classes. Mean OPGs were generally low for young and mature animals but high for middle age

  17. Post-Panafrican late Proterozoic basins in the Central Anti-Atlas (Morocco): their influence on the Variscan contractional structures.

    Science.gov (United States)

    Guimerà, Joan; Arboleya, María. Luisa

    2010-05-01

    Located South of the High Atlas, in Morocco, The Anti-Atlas is a 700 km-long chain trending NE-SW. In the Central Anti-Atlas region, between Warzazat and Taznakht, the Proterozoic Pan-African basement (X1 to X2-3) crops out in isolated areas (boutonnières), where it is overlaid by late to post Pan-African Upper Proterozoic and Palaeozoic rocks. Late to post Pan-African Upper Proterozoic rocks (X3) have been classically divided into three units (X3i, X3m and X3s) which include volcanic rocks — mainly rhyolites— and continental siliciclastic rocks, the older units intruded by late granites (Choubert, 1952 and Choubert et al., 1970). Rocks belonging to the upper unit of post Pan-African Upper Proterozoic rocks (X3s) were deposited in basins bounded by faults with a dominant dip-slip normal motion; as a result, this unit have a variable thickness, being locally absent in the uplifted blocks. Uppermost Proterozoic (Adoudounian) and Palaeozoic rocks deposited unconformable on the older rocks in the Anti-Atlas. The Central Anti-Atlas was slightly deformed during the Variscan orogeny by folds and high-angle thrusts. Two areas are selected to study the post Pan-African to Variscan evolution of the area: the Tiwiyyine basin and the Anti-Atlas Major Fault. Tiwiyyine basin This basin is delimited by kilometric-scale normal faults. Three of them can be observed in the field: two striking NE-SW (NW and SE boundaries) and one striking NW-SE (SW boundary), while the NE boundary is covered by Cenozoic rocks. The basin fill reaches 725 m and has been divided into three units: 1. X3s1: Coarse conglomerates with basal breccias. 2. X3s2: Laminated dolomites at the base, red pelites and conglomerates. 3. X3s3: Conglomerates with interbedded andesites. Unit X3s2 passes laterally to the SW to unit X3s1. The thickness of the basin fill diminishes to the SE. This is specially visible at the basal X3s1 unit. At both sides of the two NE-SW-striking faults, only the upper X3s3 unit is

  18. Estimation of water storage changes in small endorheic lakes in Burabay National Nature Park (Northern Kazakhstan, Central Asia); the effect of climate change and anthropogenic influences

    Science.gov (United States)

    Yapiyev, Vadim; Sagintayev, Zhanay; Verhoef, Anne; Samarkhanov, Kanat; Jumassultanova, Saltanat

    2017-04-01

    Both climate change and anthropogenic activities contribute to deterioration of terrestrial water resources and ecosystems worldwide. It has been observed in recent decades that water-limited steppe regions of Central Asia are among ecosystems found to exhibit enhanced responses to climate variability. In fact, the largest share of worldwide net loss of permanent water extent is geographically concentrated in the Central Asia and Middle East regions attributed to both climate variability/change and human activities impacts. We used a digital elevation model, digitized bathymetry maps and high resolution Landsat images to estimate the areal water cover extent and volumetric storage changes in small terminal lakes in Burabay National Nature Park (BNNP), located in Northern Central Asia, for the period 2000-2016. Based on the analysis of long-term climatic data from meteorological stations, hydrometeorological network observations as well as regional climate model projections we evaluate the impacts of past thirty years and future climatic conditions on the water balance of BNNP lake catchments. The anthropogenic water consumption was estimated based on data collected at a local water supply company and regulation authorities. One the one hand historical in-situ observations and future climate projections do not show a significant change in precipitation in BNNP. On the other hand both observations and the model demonstrate steadily rising air temperatures in the area. It is concluded that the long-term decline in water levels for most of these lakes can be largely attributed to climate change (but only via changes in air temperature, causing evaporation to exceed precipitation) and not to direct anthropogenic influences such as increased water withdrawals. In addition, the two largest lakes, showing the highest historical water level decline, do not have sufficient water drainage basin area to sustain water levels under increased evaporation rates.

  19. The Influence of the Madden-Julian Oscillation (mjo) on Extreme Rainfall Over the Central and Southern Peruvian Andes

    Science.gov (United States)

    Heidinger, H.; Jones, C.; Carvalho, L. V.

    2015-12-01

    Extreme rainfall is important for the Andean region because of the large contribution of these events to the seasonal totals and consequent impacts on water resources for agriculture, water consumption, industry and hydropower generation, as well as the occurrence of floods and landslides. Over Central and Southern Peruvian Andes (CSPA), rainfall exceeding the 90th percentile contributed between 44 to 100% to the total Nov-Mar 1979-2010 rainfall. Additionally, precipitation from a large majority of stations in the CSPA exhibits statistically significant spectral peaks on intraseasonal time-scales (20 to 70 days). The Madden-Julian Oscillation (MJO) is the most important intraseasonal mode of atmospheric circulation and moist convection in the tropics and the occurrence of extreme weather events worldwide. Mechanisms explaining the relationships between the MJO and precipitation in the Peruvian Andes have not been properly described yet. The present study examines the relationships between the activity and phases of the MJO and the occurrence of extreme rainfall over the CSPA. We found that the frequency of extreme rainfall events increase in the CSPA when the MJO is active. MJO phases 5, 6 and 7 contribute to the overall occurrence of extreme rainfall events over the CSPA. However, how the MJO phases modulate extreme rainfall depends on the location of the stations. For instance, extreme precipitation (above the 90th percentile) in stations in the Amazon basin are slightly more sensitive to phases 2, 3 and 4; the frequency of extremes in stations in the Pacific basin increases in phases 5, 6 and 7 whereas phase 2, 3 and 7 modulates extreme precipitation in stations in the Titicaca basin. Greater variability among stations is observed when using the 95th and 99th percentiles to identify extremes. Among the main mechanisms that explain the increase in extreme rainfall events in the Peruvian Andes is the intensification of the easterly moisture flux anomalies, which

  20. Influence of urban pollution on the production of organic particulate matter from isoprene epoxydiols in central Amazonia

    Directory of Open Access Journals (Sweden)

    S. S. de Sá

    2017-06-01

    Full Text Available The atmospheric chemistry of isoprene contributes to the production of a substantial mass fraction of the particulate matter (PM over tropical forests. Isoprene epoxydiols (IEPOX produced in the gas phase by the oxidation of isoprene under HO2-dominant conditions are subsequently taken up by particles, thereby leading to production of secondary organic PM. The present study investigates possible perturbations to this pathway by urban pollution. The measurement site in central Amazonia was located 4 to 6 h downwind of Manaus, Brazil. Measurements took place from February through March 2014 of the wet season, as part of the GoAmazon2014/5 experiment. Mass spectra of organic PM collected with an Aerodyne Aerosol Mass Spectrometer were analyzed by positive-matrix factorization. One resolved statistical factor (IEPOX-SOA factor was associated with PM production by the IEPOX pathway. The IEPOX-SOA factor loadings correlated with independently measured mass concentrations of tracers of IEPOX-derived PM, namely C5-alkene triols and 2-methyltetrols (R = 0. 96 and 0.78, respectively. The factor loading, as well as the ratio f of the loading to organic PM mass concentration, decreased under polluted compared to background conditions. For an increase in NOy concentration from 0.5 to 2 ppb, the factor loading and f decreased by two to three fold. Overall, sulfate concentration explained 37 % of the variability in the factor loading. After segregation of factor loading into subsets based on NOy concentration, the sulfate concentration explained up to 75 % of the variability. Considering both factors, the data sets show that the suppressing effects of increased NO concentrations dominated over the enhancing effects of higher sulfate concentrations. The pollution from Manaus elevated NOy concentrations more significantly than sulfate concentrations relative to background conditions. In this light, increased emissions of nitrogen oxides, as

  1. Factors influencing students' decision in choosing obstetrics and gynecology as a career in a university hospital in Central Saudi Arabia.

    Science.gov (United States)

    Abu-Rafea, Basim F; Al-Hassan, Basmah F; Al Nakshabandi, Kholoud A; Rahbini, Nora O; Al-Shaikh, Ghadeer K

    2011-07-01

    To determine factors influencing final year medical undergraduate trainees at King Saud University in choosing a career in Obstetrics and Gynecology. In this cross sectional study, the undergraduate final year medical students and interns at King Saud University, Riyadh, Saudi Arabia were asked to complete a survey instrument designed to assess possible attracting and detracting factors. The survey was conducted from January 2010 to February 2010. Factors were analyzed in a univariable and multivariable analysis. The survey was distributed to 507 students. Completed questionnaires were returned by 330 participants (response rate 65%). Overall, 32 (9.7 %) of students listed Obstetrics and Gynecology in their top 3 choices. The rotation of students through Obstetrics and Gynecology was the most influential factor attracting 81.3% of the students who chose to take this course. Faculty interaction was a major reason for attracting students accounting for 71.9%, but resident interaction was less attractive where only 37.5% of students mentioned that they were affected positively by residents. Hands-on experience such as performing deliveries and other procedures were significant attracting factors. (p=0.006 and p=0.004). The findings in this study will hopefully aid in recruiting trainees to the specialty of Obstetrics and Gynecology in Saudi Arabia. Identifying the 5 major attracting factors from our study will allow our institute to integrate these factors in Obstetrics and Gynecology curriculum design, eventually increasing interest in postgraduate training in this specialty.

  2. [Hemoglobin variants in Colombian patients referred to discard hemoglobinopathies].

    Science.gov (United States)

    Romero-Sánchez, Consuelo; Gómez Gutiérrez, Alberto; Duarte, Yurani; Amazo, Constanza; Manosalva, Clara; Chila M, Lorena; Casas-Gómez, María Consuelo; Briceño Balcázar, Ignacio

    2015-10-01

    Oxygen transport is altered in hemoglobinopathies. To study the distribution of hemoglobinopathies in Andean subjects without African ancestry. We analyzed blood samples of 1,407 subjects aged 18 to 59 years (58% females), living in the central Andean region of Colombia, referred to discard hemoglobinopathies. The frequency and type of hemoglobinopathy was established by capillary and agarose gel electrophoresis. The frequency of hemoglobinopathies was 34.5% and higher among females. The structural variants found were: AS-heterozygous hemoglobin (8.1%), homozygous SS (3.7%), heterozygous SC (2.2%), AC heterozygotes (0.5%) and heterozygous AE (0.3%). Quantitative variants found were Hb A-Beta thalassemia (13.91%) and Hb H (0.06%), Beta-thalassemia heterozygotes C (0.88%), S-Beta thalassemia heterozygotes (6.07%) and compound heterozygous SC/Beta thalassemia (0.25%), with a persistence of fetal hemoglobin 0. Composite thalassemia was also found in 31%. All techniques showed good correlation and capillary electrophoresis demonstrated a greater detection of hemoglobin variants. The frequency of hemoglobin variants in the analyzed population was high, which is an important public health indicator. The most common hemoglobin variant was HbA/Increased structural Hb A2 and the mos frequent structural hemoglobinopathy was sickle cell trait. Capillary electrophoresis can discern any Hb variants present in the population.

  3. Centralization as a predictor of provocation discography results in chronic low back pain, and the influence of disability and distress on diagnostic power.

    Science.gov (United States)

    Laslett, Mark; Oberg, Birgitta; Aprill, Charles N; McDonald, Barry

    2005-01-01

    The "centralization phenomenon" (CP) is the progressive retreat of referred pain towards the spinal midline in response to repeated movement testing (a McKenzie evaluation). A previous study suggested that it may have utility in the clinical diagnosis of discogenic pain and may assist patient selection for discography and specific treatments for disc pain. Estimation of the diagnostic predictive power of centralization and the influence of disability and patient distress on diagnostic performance, using provocation discography as a criterion standard for diagnosis, in chronic low back pain patients. This study was a prospective, blinded, concurrent, reference standard-related validity design carried out in a private radiology clinic specializing in diagnosis of chronic spinal pain. Consecutive patients with persistent low back pain were referred to the study clinic by orthopedists and other medical specialists for interventional radiological diagnostic procedures. Patients were typically disabled and displayed high levels of psychosocial distress. The sample included patients with previous lumbar surgery, and most had unsuccessful conservative therapies previously. results of provocation discography. The CP. Psychometric evaluation: Roland-Morris, Zung, Modified Somatic Perception questionnaires, Distress Risk Assessment Method, and 100-mm visual analog scales for pain intensity. Patients received a single physical therapy examination, followed by lumbar provocation discography. Sensitivity, specificity, and likelihood ratios of the CP were estimated in the group as a whole and in subgroups defined by psychometric measures. A total of 107 patients received the clinical examination and discography at two or more levels and post-discography computed tomography. Thirty-eight could not tolerate a full physical examination and were excluded from the main analysis. Disability and pain intensity ratings were high, and distress was common. Sensitivity, specificity, and

  4. Human papillomavirus type-16 variants in Quechua aboriginals from Argentina.

    Science.gov (United States)

    Picconi, María Alejandra; Alonio, Lidia Virginia; Sichero, Laura; Mbayed, Viviana; Villa, Luisa Lina; Gronda, Jorge; Campos, Rodolfo; Teyssié, Angélica

    2003-04-01

    Cervical carcinoma is the leading cause of cancer death in Quechua indians from Jujuy (northwestern Argentina). To determine the prevalence of HPV-16 variants, 106 HPV-16 positive cervical samples were studied, including 33 low-grade squamous intraepithelial lesions (LSIL), 28 high-grade squamous intraepithelial lesions (HSIL), 9 invasive cervical cancer (ICC), and 36 samples from women with normal colposcopy and cytology. HPV genome variability was examined in the L1 and E6 genes by PCR-hybridization. In a subset of 20 samples, a LCR fragment was also analyzed by PCR-sequencing. Most variants belonged to the European branch with subtle differences that depended on the viral gene fragment studied. Only about 10% of the specimens had non-European variants, including eight Asian-American, two Asian, and one North-American-1. E6 gene analysis revealed that 43% of the samples were identical to HPV-16 prototype, while 57% corresponded to variants. Interestingly, the majority (87%) of normal smears had HPV-16 prototype, whereas variants were detected mainly in SIL and ICC. LCR sequencing yielded 80% of variants, including 69% of European, 19% Asian-American, and 12% Asian. We identified a new variant, the Argentine Quechua-51 (AQ-51), similar to B-14 plus two additional changes: G7842-->A and A7837-->C; phylogenetic inference allocated it in the Asian-American branch. The high proportion of European variants may reflect Spanish colonial influence on these native Inca descendants. The predominance of HPV-16 variants in pathologic samples when compared to normal controls could have implications for the natural history of cervical lesions. Copyright 2003 Wiley-Liss, Inc.

  5. Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus

    DEFF Research Database (Denmark)

    Mahajan, Anubha; Sim, Xueling; Ng, Hui Jin

    2015-01-01

    . To test this, we analyzed exome-array data from up to 33,231 non-diabetic individuals of European ancestry. We found exome-wide significant (P... and functional effects was only possible when haplotype phase was considered. In contrast to earlier reports suggesting that, paradoxically, glucose-raising alleles at this locus are protective against type 2 diabetes (T2D), the p.Val219Leu G6PC2 variant displayed a modest but directionally consistent...

  6. Sleep driving: sleepwalking variant or misuse of z-drugs?

    Science.gov (United States)

    Pressman, Mark R

    2011-10-01

    Sleep driving is most often classified as a variant of sleepwalking, but should be distinguished from impaired driving due to misuse or abuse of sedative/hypnotic drugs. Z-drugs; zolpidem and zopiclone in particular, have been associated with the majority of reported cases of impaired driving. Numerous studies have found z-drugs in driving under influence (DUI) related police stops, arrests and accidents. Impaired drivers are reported to have 1) blood levels of z-drugs that exceed therapeutic ranges 2) failed to take the medication at the correct time or remain in bed for sufficient time and/or 3) combined z-drugs with other central nervous system (CNS) depressants and/or alcohol. Consistent with CNS depression, z-drug-impaired drivers may demonstrate cognitive function at low levels with drivers still able to understand and respond to questions while sleepwalkers are completely unable to understand or interact with police. Z-drug-impaired drivers are often severely physically impaired, unable to stand up or maintain balance while sleepwalkers are able to stand and walk unaided. Sleep driving and impaired driving due to z-drugs may overlap. Sleep driving and drug-impaired driving are statistically rare events, but due to the billions of doses prescribed each year may still result in numerous DUI related arrests and accidents. Copyright © 2010 Elsevier Ltd. All rights reserved.

  7. Lack of Association of CD55 Receptor Genetic Variants and Severe Malaria in Ghanaian Children

    Directory of Open Access Journals (Sweden)

    Kathrin Schuldt

    2017-03-01

    Full Text Available In a recent report, the cellular receptor CD55 was identified as a molecule essential for the invasion of human erythrocytes by Plasmodium falciparum, the causal agent of the most severe form of malaria. As this invasion process represents a critical step during infection with the parasite, it was hypothesized that genetic variants in the gene could affect severe malaria (SM susceptibility. We performed high-resolution variant discovery of rare and common genetic variants in the human CD55 gene. Association testing of these variants in over 1700 SM cases and unaffected control individuals from the malaria-endemic Ashanti Region in Ghana, West Africa, were performed on the basis of single variants, combined rare variant analyses, and reconstructed haplotypes. A total of 26 genetic variants were detected in coding and regulatory regions of CD55. Five variants were previously unknown. None of the single variants, rare variants, or haplotypes showed evidence for association with SM or P. falciparum density. Here, we present the first comprehensive analysis of variation in the CD55 gene in the context of SM and show that genetic variants present in a Ghanaian study group appear not to influence susceptibility to the disease.

  8. Variante de Dandy Walker: relato de caso = Dandy Walker variant: a case report

    Directory of Open Access Journals (Sweden)

    Khan, Richard Lester

    2009-01-01

    Conclusões: este artigo procura caracterizar a variante de Dandy Walker, que é uma malformação congênita do sistema nervoso central e é o tipo mais comum da Síndrome de Dandy Walker. Seu fenótipo é variável, devendo-se sempre pesquisar malformações tanto intra quanto extracranianas, visto que o risco de mortalidade pós-natal aumenta quando existe esta associação. O tratamento envolve equipe multidisciplinar e o prognóstico é reservado, variando conforme o fenótipo

  9. Study on the influence of the distance to shore for a wave energy farm operating in the central part of the Portuguese nearshore

    International Nuclear Information System (INIS)

    Rusu, Eugen; Onea, Florin

    2016-01-01

    Graphical abstract: Nearshore impact of the wave farm (significant wave height fields and wave vectors). Conditions for a wave farm operating at 7 km from the shore, where: (a) average conditions for total time; (b) average conditions for winter time; (c) high energy non storm conditions. (MA) – Moderate absoption, (HA) – High absorption. - Highlights: • The coastal influence of a generic wave farm is assessed. • The target area is located in the central part of Portugal. • The wave decay down wave the farm is evaluated. • The impact on the coastal circulation is also assessed. - Abstract: The objective of the present work is to assess the coastal impact induced by a generic wave farm operating in the central part of the Portuguese continental coastal environment, south of Lisbon. In order to identify better the most relevant wave patterns in the target area, two data sets were processed and analyzed. The first is represented by the ‘in situ’ measurements provided by the Sines buoy, which operates in the immediate vicinity south of the target area, and the second consists in the wave data coming from the European Centre for Medium-Range Weather Forecasts, in a point located offshore close to the target area. Three scenarios were considered for the numerical simulations that were carried out with a computational framework combining a wave and a circulation model. A generic wave farm was defined in the computational domain considering various distances from the shore: 1 km, 4 km and 7 km, respectively. In the first part of the work, the down-wave effect of the farm was evaluated taking into account the local wave characteristics in the target area and analyzing various wave parameters, as for example the wave power, wave height and mean wave direction. In the second part of the work, the influence of the farm on the nearshore circulation was also assessed. Based on the results of the present work it can be concluded that the nearshore impact of such a

  10. Association analysis of bitter receptor genes in five isolated populations identifies a significant correlation between TAS2R43 variants and coffee liking.

    Science.gov (United States)

    Pirastu, Nicola; Kooyman, Maarten; Traglia, Michela; Robino, Antonietta; Willems, Sara M; Pistis, Giorgio; d'Adamo, Pio; Amin, Najaf; d'Eustacchio, Angela; Navarini, Luciano; Sala, Cinzia; Karssen, Lennart C; van Duijn, Cornelia; Toniolo, Daniela; Gasparini, Paolo

    2014-01-01

    Coffee, one of the most popular beverages in the world, contains many different physiologically active compounds with a potential impact on people's health. Despite the recent attention given to the genetic basis of its consumption, very little has been done in understanding genes influencing coffee preference among different individuals. Given its markedly bitter taste, we decided to verify if bitter receptor genes (TAS2Rs) variants affect coffee liking. In this light, 4066 people from different parts of Europe and Central Asia filled in a field questionnaire on coffee liking. They have been consequently recruited and included in the study. Eighty-eight SNPs covering the 25 TAS2R genes were selected from the available imputed ones and used to run association analysis for coffee liking. A significant association was detected with three SNP: one synonymous and two functional variants (W35S and H212R) on the TAS2R43 gene. Both variants have been shown to greatly reduce in vitro protein activity. Surprisingly the wild type allele, which corresponds to the functional form of the protein, is associated to higher liking of coffee. Since the hTAS2R43 receptor is sensible to caffeine, we verified if the detected variants produced differences in caffeine bitter perception on a subsample of people coming from the FVG cohort. We found a significant association between differences in caffeine perception and the H212R variant but not with the W35S, which suggests that the effect of the TAS2R43 gene on coffee liking is mediated by caffeine and in particular by the H212R variant. No other significant association was found with other TAS2R genes. In conclusion, the present study opens new perspectives in the understanding of coffee liking. Further studies are needed to clarify the role of the TAS2R43 gene in coffee hedonics and to identify which other genes and pathways are involved in its genetics.

  11. Association analysis of bitter receptor genes in five isolated populations identifies a significant correlation between TAS2R43 variants and coffee liking.

    Directory of Open Access Journals (Sweden)

    Nicola Pirastu

    Full Text Available Coffee, one of the most popular beverages in the world, contains many different physiologically active compounds with a potential impact on people's health. Despite the recent attention given to the genetic basis of its consumption, very little has been done in understanding genes influencing coffee preference among different individuals. Given its markedly bitter taste, we decided to verify if bitter receptor genes (TAS2Rs variants affect coffee liking. In this light, 4066 people from different parts of Europe and Central Asia filled in a field questionnaire on coffee liking. They have been consequently recruited and included in the study. Eighty-eight SNPs covering the 25 TAS2R genes were selected from the available imputed ones and used to run association analysis for coffee liking. A significant association was detected with three SNP: one synonymous and two functional variants (W35S and H212R on the TAS2R43 gene. Both variants have been shown to greatly reduce in vitro protein activity. Surprisingly the wild type allele, which corresponds to the functional form of the protein, is associated to higher liking of coffee. Since the hTAS2R43 receptor is sensible to caffeine, we verified if the detected variants produced differences in caffeine bitter perception on a subsample of people coming from the FVG cohort. We found a significant association between differences in caffeine perception and the H212R variant but not with the W35S, which suggests that the effect of the TAS2R43 gene on coffee liking is mediated by caffeine and in particular by the H212R variant. No other significant association was found with other TAS2R genes. In conclusion, the present study opens new perspectives in the understanding of coffee liking. Further studies are needed to clarify the role of the TAS2R43 gene in coffee hedonics and to identify which other genes and pathways are involved in its genetics.

  12. Influence of summer marine fog and low cloud stratus on water relations of evergreen woody shrubs (Arctostaphylos: Ericaceae) in the chaparral of central California.

    Science.gov (United States)

    Vasey, Michael C; Loik, Michael E; Parker, V Thomas

    2012-10-01

    Mediterranean-type climate (MTC) regions around the world are notable for cool, wet winters and hot, dry summers. A dominant vegetation type in all five MTC regions is evergreen, sclerophyllous shrubland, called chaparral in California. The extreme summer dry season in California is moderated by a persistent low-elevation layer of marine fog and cloud cover along the margin of the Pacific coast. We tested whether late dry season water potentials (Ψ(min)) of chaparral shrubs, such as Arctostaphylos species in central California, are influenced by this coast-to-interior climate gradient. Lowland coastal (maritime) shrubs were found to have significantly less negative Ψ(min) than upland interior shrubs (interior), and stable isotope (δ(13)C) values exhibited greater water use efficiency in the interior. Post-fire resprouter shrubs (resprouters) had significantly less negative Ψ(min) than co-occurring obligate seeder shrubs (seeders) in interior and transitional chaparral, possibly because resprouters have deeper root systems with better access to subsurface water than shallow-rooted seeders. Unexpectedly, maritime resprouters and seeders did not differ significantly in their Ψ(min), possibly reflecting more favorable water availability for shrubs influenced by the summer marine layer. Microclimate and soil data also suggest that maritime habitats have more favorable water availability than the interior. While maritime seeders constitute the majority of local Arctostaphylos endemics, they exhibited significantly greater vulnerability to xylem cavitation than interior seeders. Because rare seeders in maritime chaparral are more vulnerable to xylem cavitation than interior seeders, the potential breakdown of the summer marine layer along the coast is of potential conservation concern.

  13. Variants at the 9p21 locus and melanoma risk

    International Nuclear Information System (INIS)

    Maccioni, Livia; Rachakonda, Panduranga Sivaramakrishna; Bermejo, Justo Lorenzo; Planelles, Dolores; Requena, Celia; Hemminki, Kari; Nagore, Eduardo; Kumar, Rajiv

    2013-01-01

    The influence of variants at the 9p21 locus on melanoma risk has been reported through investigation of CDKN2A variants through candidate gene approach as well as by genome wide association studies (GWAS). In the present study we genotyped, 25 SNPs that tag 273 variants on chromosome 9p21 in 837 melanoma cases and 1154 controls from Spain. Ten SNPs were selected based on previous associations, reported in GWAS, with either melanocytic nevi or melanoma risk or both. The other 15 SNPs were selected to fine map the CDKN2A gene region. All the 10 variants selected from the GWAS showed statistically significant association with melanoma risk. Statistically significant association with melanoma risk was also observed for the carriers of the variant T-allele of rs3088440 (540 C>T) at the 3’ UTR of CDKN2A gene with an OR 1.52 (95% CI 1.14-2.04). Interaction analysis between risk associated polymorphisms and previously genotyped MC1R variants, in the present study, did not show any statistically significant association. Statistical significant association was observed for the interaction between phototypes and the rs10811629 (located in intron 5 of MTAP). The strongest association was observed between the homozygous carrier of the A–allele and phototype II with an OR of 15.93 (95% CI 5.34-47.54). Our data confirmed the association of different variants at chromosome 9p21 with melanoma risk and we also found an association of a variant with skin phototypes

  14. Evaluating how variants of floristic quality assessment indicate wetland condition.

    Science.gov (United States)

    Kutcher, Thomas E; Forrester, Graham E

    2018-03-28

    Biological indicators are useful tools for the assessment of ecosystem condition. Multi-metric and multi-taxa indicators may respond to a broader range of disturbances than simpler indicators, but their complexity can make them difficult to interpret, which is critical to indicator utility for ecosystem management. Floristic Quality Assessment (FQA) is an example of a biological assessment approach that has been widely tested for indicating freshwater wetland condition, but less attention has been given to clarifying the factors controlling its response. FQA quantifies the aggregate of vascular plant species tolerance to habitat degradation (conservatism), and model variants have incorporated species richness, abundance, and indigenity (native or non-native). To assess bias, we tested FQA variants in open-canopy freshwater wetlands against three independent reference measures, using practical vegetation sampling methods. FQA variants incorporating species richness did not correlate with our reference measures and were influenced by wetland size and hydrogeomorphic class. In contrast, FQA variants lacking measures of species richness responded linearly to reference measures quantifying individual and aggregate stresses, suggesting a broad response to cumulative degradation. FQA variants incorporating non-native species, and a variant additionally incorporating relative species abundance, improved performance over using only native species. We relate our empirical findings to ecological theory to clarify the functional properties and implications of the FQA variants. Our analysis indicates that (1) aggregate conservatism reliably declines with increased disturbance; (2) species richness has varying relationships with disturbance and increases with site area, confounding FQA response; and (3) non-native species signal human disturbance. We propose that incorporating species abundance can improve FQA site-level relevance with little extra sampling effort. Using our

  15. Hundreds of variants clustered in genomic loci and biological pathways affect human height

    NARCIS (Netherlands)

    H.L. Allen; K. Estrada Gil (Karol); G. Lettre (Guillaume); S.I. Berndt (Sonja); F. Rivadeneira Ramirez (Fernando); C.J. Willer (Cristen); A.U. Jackson (Anne); S. Vedantam (Sailaja); S. Raychaudhuri (Soumya); T. Ferreira (Teresa); A.R. Wood (Andrew); R.J. Weyant (Robert); A.V. Segrè (Ayellet); E.K. Speliotes (Elizabeth); E. Wheeler (Eleanor); N. Soranzo (Nicole); J.H. Park; J. Yang (Joanna); D.F. Gudbjartsson (Daniel); N.L. Heard-Costa (Nancy); J.C. Randall (Joshua); L. Qi (Lu); A.V. Smith (Albert Vernon); R. Mägi (Reedik); T. Pastinen (Tomi); L. Liang (Liming); I.M. Heid (Iris); J. Luan; G. Thorleifsson (Gudmar); T.W. Winkler (Thomas); M.E. Goddard (Michael); K.S. Lo; C. Palmer (Cameron); T. Workalemahu (Tsegaselassie); Y.S. Aulchenko (Yurii); A. Johansson (Åsa); M.C. Zillikens (Carola); M.F. Feitosa (Mary Furlan); T. Esko (Tõnu); T. Johnson (Toby); S. Ketkar (Shamika); P. Kraft (Peter); M. Mangino (Massimo); I. Prokopenko (Inga); D. Absher (Devin); E. Albrecht (Eva); F.D.J. Ernst (Florian); N.L. Glazer (Nicole); C. Hayward (Caroline); J.J. Hottenga (Jouke Jan); K.B. Jacobs (Kevin); J.W. Knowles (Joshua); Z. Kutalik (Zoltán); K.L. Monda (Keri); O. Polasek (Ozren); M. Preuss (Michael); N.W. Rayner (Nigel William); N.R. Robertson (Neil); V. Steinthorsdottir (Valgerdur); J.P. Tyrer (Jonathan); B.F. Voight (Benjamin); F. Wiklund (Fredrik); J. Xu (Jianfeng); J.H. Zhao (Jing Hua); D.R. Nyholt (Dale); N. Pellikka (Niina); M. Perola (Markus); J.R.B. Perry (John); I. Surakka (Ida); M.L. Tammesoo; E.L. Altmaier (Elizabeth); N. Amin (Najaf); T. Aspelund (Thor); T. Bhangale (Tushar); G. Boucher (Gabrielle); D.I. Chasman (Daniel); C. Chen (Constance); L. Coin (Lachlan); M.N. Cooper (Matthew); A.L. Dixon (Anna); Q. Gibson (Quince); E. Grundberg (Elin); K. Hao (Ke); M.J. Junttila (Juhani); R.C. Kaplan (Robert); J. Kettunen (Johannes); I.R. König (Inke); T. Kwan (Tony); R.W. Lawrence (Robert); D.F. Levinson (Douglas); M. Lorentzon (Mattias); B. McKnight (Barbara); A.D. Morris (Andrew); M. Müller (Martina); J.S. Ngwa; S. Purcell (Shaun); S. Rafelt (Suzanne); R.M. Salem (Rany); E. Salvi (Erika); S. Sanna (Serena); J. Shi (Jianxin); U. Sovio (Ulla); J.R. Thompson (John); M.C. Turchin (Michael); L. Vandenput (Liesbeth); D.J. Verlaan (Dominique); V. Vitart (Veronique); C.C. White (Charles); A. Ziegler (Andreas); P. Almgren (Peter); A.J. Balmforth (Anthony); H. Campbell (Harry); L. Citterio (Lorena); A. de Grandi (Alessandro); A. Dominiczak (Anna); J. Duan (Jubao); P. Elliott (Paul); R. Elosua (Roberto); J.G. Eriksson (Johan); N.B. Freimer (Nelson); E.J.C. de Geus (Eco); N. Glorioso (Nicola); S. Haiqing (Shen); A.L. Hartikainen; A.S. Havulinna (Aki); A.A. Hicks (Andrew); J. Hui (Jennie); W. Igl (Wilmar); T. Illig (Thomas); A. Jula (Antti); E. Kajantie (Eero); T.O. Kilpeläinen (Tuomas); M. Koiranen (Markku); I. Kolcic (Ivana); S. Koskinen (Seppo); P. Kovacs (Peter); J. Laitinen (Jaana); J. Liu (Jianjun); M.L. Lokki; A. Marusic (Ana); A. Maschio; T. Meitinger (Thomas); A. Mulas (Antonella); G. Paré (Guillaume); A.N. Parker (Alex); J. Peden (John); A. Petersmann (Astrid); I. Pichler (Irene); K.H. Pietilainen (Kirsi Hannele); A. Pouta (Anneli); M. Ridderstråle (Martin); J.I. Rotter (Jerome); J.G. Sambrook (Jennifer); A.R. Sanders (Alan); C.O. Schmidt (Carsten Oliver); J. Sinisalo (Juha); J.H. Smit (Jan); H.M. Stringham (Heather); G.B. Walters (Bragi); E. Widen (Elisabeth); S.H. Wild (Sarah); G.A.H.M. Willemsen (Gonneke); L. Zagato (Laura); L. Zgaga (Lina); P. Zitting (Paavo); H. Alavere (Helene); M. Farrall (Martin); W.L. McArdle (Wendy); M. Nelis (Mari); M.J. Peters (Marjolein); S. Ripatti (Samuli); J.B.J. van Meurs (Joyce); K.K.H. Aben (Katja); J.S. Beckmann (Jacques); J.P. Beilby (John); R.N. Bergman (Richard); S.M. Bergmann (Sven); F.S. Collins (Francis); D. Cusi (Daniele); M. den Heijer (Martin); G. Eiriksdottir (Gudny); P.V. Gejman (Pablo); A.S. Hall (Alistair); A. Hamsten (Anders); H.V. Huikuri (Heikki); C. Iribarren (Carlos); M. Kähönen (Mika); J. Kaprio (Jaakko); S. Kathiresan (Sekar); L.A.L.M. Kiemeney (Bart); T. Kocher (Thomas); L.J. Launer (Lenore); T. Lehtimäki (Terho); O. Melander (Olle); T.H. Mosley (Thomas); A.W. Musk (Arthur); M.S. Nieminen (Markku); C.J. O'Donnell (Christopher); C. Ohlsson (Claes); B.A. Oostra (Ben); O. Raitakari (Olli); P.M. Ridker (Paul); J.D. Rioux (John); A. Rissanen (Aila); C. Rivolta (Carlo); H. Schunkert (Heribert); A.R. Shuldiner (Alan); D.S. Siscovick (David); M. Stumvoll (Michael); A. Tönjes (Anke); J. Tuomilehto (Jaakko); G.J. van Ommen (Gert); J. Viikari (Jorma); A.C. Heath (Andrew); N.G. Martin (Nicholas); G.W. Montgomery (Grant); M.A. Province (Mike); M.H. Kayser (Manfred); A.M. Arnold (Alice); L.D. Atwood (Larry); E.A. Boerwinkle (Eric); S.J. Chanock (Stephen); P. Deloukas (Panagiotis); C. Gieger (Christian); H. Grönberg (Henrik); A.T. Hattersley (Andrew); C. Hengstenberg (Christian); W. Hoffman (Wolfgang); G.M. Lathrop (Mark); V. Salomaa (Veikko); S. Schreiber (Stefan); M. Uda (Manuela); D. Waterworth (Dawn); A.F. Wright (Alan); T.L. Assimes (Themistocles); I.E. Barroso (Inês); A. Hofman (Albert); K.L. Mohlke (Karen); D.I. Boomsma (Dorret); M. Caulfield (Mark); L.A. Cupples (Adrienne); C.S. Fox (Caroline); V. Gudnason (Vilmundur); U. Gyllensten (Ulf); T.B. Harris (Tamara); R.B. Hayes (Richard); M.R. Järvelin; V. Mooser (Vincent); P. Munroe (Patricia); W.H. Ouwehand (Willem); B.W.J.H. Penninx (Brenda); P.P. Pramstaller (Peter Paul); T. Quertermous (Thomas); I. Rudan (Igor); N.J. Samani (Nilesh); T.D. Spector (Timothy); H. Völzke (Henry); H. Watkins (Hugh); J.F. Wilson (James); L. Groop (Leif); T. Haritunians (Talin); F.B. Hu (Frank); A. Metspalu (Andres); K.E. North (Kari); D. Schlessinger; N.J. Wareham (Nick); D.J. Hunter (David); J.R. O´Connell; D.P. Strachan (David); H.E. Wichmann (Heinz Erich); I.B. Borecki (Ingrid); C.M. van Duijn (Cornelia); E.E. Schadt (Eric); U. Thorsteinsdottir (Unnur); L. Peltonen (Leena Johanna); A.G. Uitterlinden (André); P.M. Visscher (Peter); N. Chatterjee (Nilanjan); J. Erdmann (Jeanette); R.J.F. Loos (Ruth); M. Boehnke (Michael); M.I. McCarthy (Mark); E. Ingelsson (Erik); C.M. Lindgren (Cecilia); G.R. Abecasis (Gonçalo); K. Stefansson (Kari); T.M. Frayling (Timothy); J.N. Hirschhorn (Joel); K.G. Ardlie (Kristin); M.N. Weedon (Michael)

    2010-01-01

    textabstractMost common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits1, but these typically explain small

  16. Hundreds of variants clustered in genomic loci and biological pathways affect human height

    NARCIS (Netherlands)

    Allen, Hana Lango; Estrada, Karol; Lettre, Guillaume; Berndt, Sonja I.; Weedon, Michael N.; Rivadeneira, Fernando; Willer, Cristen J.; Jackson, Anne U.; Vedantam, Sailaja; Raychaudhuri, Soumya; Ferreira, Teresa; Wood, Andrew R.; Weyant, Robert J.; Segre, Ayellet V.; Speliotes, Elizabeth K.; Wheeler, Eleanor; Soranzo, Nicole; Park, Ju-Hyun; Yang, Jian; Gudbjartsson, Daniel; Heard-Costa, Nancy L.; Randall, Joshua C.; Qi, Lu; Smith, Albert Vernon; Maegi, Reedik; Pastinen, Tomi; Liang, Liming; Heid, Iris M.; Luan, Jian'an; Thorleifsson, Gudmar; Winkler, Thomas W.; Goddard, Michael E.; Lo, Ken Sin; Palmer, Cameron; Workalemahu, Tsegaselassie; Aulchenko, Yurii S.; Johansson, Asa; Zillikens, M. Carola; Feitosa, Mary F.; Esko, Tonu; Johnson, Toby; Ketkar, Shamika; Kraft, Peter; Mangino, Massimo; Prokopenko, Inga; Absher, Devin; Albrecht, Eva; Ernst, Florian; Zhao, Jing Hua; Chen, Constance

    2010-01-01

    Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits(1), but these typically explain small fractions

  17. Hundreds of variants clustered in genomic loci and biological pathways affect human height

    DEFF Research Database (Denmark)

    Lango Allen, Hana; Estrada, Karol; Lettre, Guillaume

    2010-01-01

    Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions...

  18. Examination of the influence of water-heated central heating systems on the levels of radon and radon progeny in the workplace

    International Nuclear Information System (INIS)

    Marley, F.; Denman, A.R.; Phillips, P.S.

    2000-01-01

    A series of continuous real-time radon and progeny measurements, together with passive etched-track detector measurements returning average values, were undertaken in commercial premises in Northamptonshire. Detailed measurements over several months in two separate buildings show that the level of both radon and progeny are determined to a major extent by the influence of the operation and timing of the central heating systems in place. Both buildings studied are similar in construction to many single-storey domestic properties. The operative heating system reduced the radon and progeny levels relative to the non-operating mode by over 40% during the heating period of a normal working day. The variation in temperature during this time was generally less than 3 deg. C, indicative of a heat retentive building. Because the equilibrium (F) fraction is reduced during the heating period, the reductions in radon and progeny are not uniform. In the workplaces studied, the work-cycle was normally limited to 0900-1700 hours Monday to Friday, the period when the lowest values were recorded. Average daily values would therefore overstate by more than 50% the maximum potential dose during normal attendance hours. The corollary is that living under similar circumstances in domestic environments, the operation and timing of this type of heating regime may well result in higher exposure in the home than at work

  19. Comparison of influence of high thoracic epidural anesthesia and central analgesia on hemodynamic during on-bypass coronary artery bypass grafting

    Directory of Open Access Journals (Sweden)

    V. A. Sobokar

    2015-06-01

    Full Text Available Objective. Despite some advantages, the use of high thoracic epidural anesthesia (HTEA during cardiac operations may be discouraged by fear of adverse hemodynamic effects. Aim. To compare the hemodynamic effects of HTEA and central analgesia (CA during on-bypass CABG. Methods. 132 patients were assigned into two groups – study group (n = 85, where the surgery was carried out under HTEA and control group (n = 47 - where the surgery was carried out under CA. Data of the intraoperative monitoring and trans-oesophageal cardiac ultrasound - cardiac index (CI, stroke index (SI, ejection fraction (EF and index of systemic vascular resistance (ISVR were obtained. Results. After induction and sternotomy patients in the study group had higher EF - 57(53, 65% vs 54 ± 7% (p = 0,013 and 55 ± 8 vs 52 ± 9%, (p = 0,031. After sternotomy CI and SI in the study group were also higher, respectively 2,42 (2,0;3,1 vs 2,23±0,63 l · min-1 · m-2, (p = 0,041 and 43 (34;46 vs 37±10 ml · m-2 (p = 0.014. Conclusion. We concluded that HTEA has advantages over CA by its influence on hemodynamics.

  20. Factors influencing the movements during the breeding season of a female booted eagle (Aquila pennata tagged by satellite in central Catalonia (Spain

    Directory of Open Access Journals (Sweden)

    Bosch Josep

    2016-12-01

    Full Text Available Foraging movements during the breeding season are a poorly studied aspect of booted eagle behaviour. We have investigated the relationship between weather and other abiotic factors and foraging behaviour, and also resource use by a female booted eagle, tagged by satellite-GPS transmitter in central Catalonia, during summer 2012 and spring 2013. Generalized Linear Models (GLMs revealed that the distance travelled from the nest was significantly related to temperature, but also to the time of day and the age of chicks. Temperature also had a significant positive influence on flight altitude and the latter on flight speed. The Resource Utilization Function (RUF showed significant resource use in locations close to water (rivers and water bodies and also in agricultural areas, preferably close to urban areas and rivers. On the other hand, unlike in other areas of Spain, the use of the edges between forest and agricultural areas and forest areas themselves showed negative coefficients with values not significant, perhaps related to changes in prey availability in the traditional hunting grounds.

  1. Factors influencing specialist outreach and support services to rural populations in the Eden and Central Karoo districts of the Western Cape.

    Science.gov (United States)

    Schoevers, Johan; Jenkins, Louis

    2015-04-21

    Access to health care often depends on where one lives. Rural populations have significantly poorer health outcomes than their urban counterparts. Specialist outreach to rural communities is one way of improving access to care. A multifaceted style of outreach improves access and health outcomes, whilst a shifted outpatients style only improves access. In principle, stakeholders agree that specialist outreach and support (O&S) to rural populations is necessary. In practice, however, factors influence whether or not O&S reaches its goals, affecting sustainability.Aim and setting: Our aim was to better understand factors associated with the success or failure of specialist O&S to rural populations in the Eden and Central Karoo districts in the Western Cape. An anonymous parallel three-stage Delphi process was followed to obtain consensus in a specialist and district hospital panel. Twenty eight specialist and 31 district hospital experts were invited, with response rates of 60.7%-71.4% and 58.1%-74.2% respectively across the three rounds. Relationships, communication and planning were found to be factors feeding into a service delivery versus capacity building tension, which affects the efficiency of O&S. The success of the O&S programme is dependent on a site-specific model that is acceptable to both the outreaching specialists and the hosting district hospital. Good communication, constructive feedback and improved planning may improve relationships and efficiency, which might lead to a more sustainable and mutually beneficial O&S system.

  2. Characterization of Coconut cadang-cadang viroid variants from oil palm affected by orange spotting disease in Malaysia.

    Science.gov (United States)

    Wu, Y H; Cheong, L C; Meon, S; Lau, W H; Kong, L L; Joseph, H; Vadamalai, G

    2013-06-01

    A 246-nt variant of Coconut cadang-cadang viroid (CCCVd) has been identified and described from oil palms with orange spotting symptoms in Malaysia. Compared with the 246-nt form of CCCVd from coconut, the oil palm variant substituted C(31)→U in the pathogenicity domain and G(70)→C in the central conserved domain. This is the first sequence reported for a 246-nt variant of CCCVd in oil palms expressing orange spotting symptoms.

  3. Human papillomavirus type 16 molecular variants in Guarani Indian women from Misiones, Argentina.

    Science.gov (United States)

    Tonon, Sergio Andrés; Basiletti, Jorge; Badano, Ines; Alonio, Lidia Virginia; Villa, Luisa Lina; Teyssie, Angélica Rita; Picconi, María Alejandra

    2007-01-01

    To identify human papillomavirus type 16 (HPV16) E6 and L1 molecular variants infecting Guarani Indian women settled in Misiones, Argentina, a region with a high prevalence of cervical cancer. Some intratypic molecular variants of HPV16 have been associated with greater oncogenic risk, but their implication in the etiology of cervical cancer is still uncertain. Seventy HPV16 positive cervical samples from Guarani Indian women settled in two different areas of Misiones, Argentina, (34 from the northern area and 36 from the central area), were analyzed. Thirty-seven had normal cytology, 18 had a low-grade squamous intraepithelial lesion (LGSIL), and 15 a high-grade squamous intraepithelial lesion (HGSIL). HPV16 E6 and L1 molecular variants were identified by PCR, followed by dot blot hybridization with 23 and 12 biotinylated oligonucleotide probes, respectively. The frequency of HPV16 variants over the Guarani population was 51% EP (European prototype), 32% E-350G, 9% Af1-a (African 1), 4% E-6862C, 3% Af2-a, and 1% AA-a (Asian-American). The distribution of variants was not homogeneous in the two areas under analysis, with the northern area being more diverse showing 74% of European variants, while the central area presented exclusively E variants. No statistically significant association was found between any particular variant and grade of cervical lesion. This study reports for the first time HPV16 E6 and L1 molecular variants infecting women from an aboriginal community inhabiting a rainforest region of South America. The presence of E class variants could be attributed primarily to contacts with the Spanish conquerors, and Af variants from African slaves introduced later in the South American continent.

  4. Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population.

    Science.gov (United States)

    Yousri, Noha A; Fakhro, Khalid A; Robay, Amal; Rodriguez-Flores, Juan L; Mohney, Robert P; Zeriri, Hassina; Odeh, Tala; Kader, Sara Abdul; Aldous, Eman K; Thareja, Gaurav; Kumar, Manish; Al-Shakaki, Alya; Chidiac, Omar M; Mohamoud, Yasmin A; Mezey, Jason G; Malek, Joel A; Crystal, Ronald G; Suhre, Karsten

    2018-01-23

    Metabolomics-genome-wide association studies (mGWAS) have uncovered many metabolic quantitative trait loci (mQTLs) influencing human metabolic individuality, though predominantly in European cohorts. By combining whole-exome sequencing with a high-resolution metabolomics profiling for a highly consanguineous Middle Eastern population, we discover 21 common variant and 12 functional rare variant mQTLs, of which 45% are novel altogether. We fine-map 10 common variant mQTLs to new metabolite ratio associations, and 11 common variant mQTLs to putative protein-altering variants. This is the first work to report common and rare variant mQTLs linked to diseases and/or pharmacological targets in a consanguineous Arab cohort, with wide implications for precision medicine in the Middle East.

  5. Numerically-quantified two dimensionality of microstructure evolution accompanying variant selection of FePd

    International Nuclear Information System (INIS)

    Ueshima, N; Yoshiya, M; Yasuda, H; Fukuda, T; Kakeshita, T

    2015-01-01

    Through three-dimensional (3D) simulations of microstructure evolution by phase-field modeling (PFM), microstructures have been quantified during their time evolution by an image processing technique with particular attention to the shape of variants in the course of variant selection. It is found that the emerging variants exhibit planar shapes rather than 3D shapes due to the elastic field around the variants arising upon disorder-to-order transition to the L1 0 phase. The two-dimensionality is more pronounced as variant selection proceeds. Although three equivalent variants compete for dominance under an external field, one of the three variants vanishes before final competition occurs between the remaining variants, which can be explained by the elastic strain energy. These numerical analyses provide better understanding of the microstructure evolution in a more quantitative manner, including the small influence of the third variant, and the results obtained confirm that the understanding of variant selection obtained from two-dimensional (2D) simulations by PFM is valid. (paper)

  6. Influence of wildfires on atmospheric composition and carbon uptake of forest ecosystems in Central Siberia: the establishing of a long-term post-fire monitoring system

    Science.gov (United States)

    Panov, Alexey; Chi, Xuguang; Winderlich, Jan; Prokushkin, Anatoly; Bryukhanov, Alexander; Korets, Mikhail; Ponomarev, Evgenii; Timokhina, Anastasya; Andreae, Meinrat O.; Heimann, Martin

    2014-05-01

    Calculations of direct emissions of greenhouse gases from boreal wildfires remain uncertain due to problems with emission factors, available carbon, and imprecise estimates of burned areas. Even more varied and sparse are accurate in situ calculations of temporal changes in boreal forest carbon dynamics following fire. Linking simultaneous instrumental atmospheric observations, GIS-based estimates of burned areas, and ecosystem carbon uptake calculations is vital to fill this knowledge gap. Since 2006 the Zotino Tall Tower Observatory (ZOTTO; www.zottoproject.org) a research platform for large-scale climatic observations is operational in Central Siberia (60°48'N, 89°21'E). The data of ongoing greenhouse gases measurements at the tower are used in atmospheric inversions studies to infer the distribution of carbon sinks and sources over central Northern Eurasia. We present our contribution to reducing uncertainties in estimates of fire influence on atmospheric composition and post-fire ecosystem carbon uptake deduced from the large-scale fires that happened in 2012 in the tall tower footprint area. The burned areas were estimated from Landsat ETM 5,8 satellite images, while fires were detected from Terra/Aqua MODIS satellite data. The magnitude of ecological change caused by fires ("burn severity") was measured and mapped with a Normalized Burn Ratio (NBR) index and further calibrated by a complementary field based Composite Burn Index (CBI). Measures of fire radiative power (FRP) index provided information on fire heat release intensity and on the amount and completeness of biomass combustion. Based on the analyzed GIS data, the system of study plots was established in the 5 dominating ecosystem types for a long-term post-fire monitoring. On the plots the comprehensive estimation of ecosystem parameters and carbon pools and their mapping was organized with a laser-based field instrumentation system. The work was supported financially by ISTC Project # 2757p

  7. Genetic association study of common mitochondrial variants on body fat mass.

    Directory of Open Access Journals (Sweden)

    Tie-Lin Yang

    Full Text Available Mitochondria play a central role in ATP production and energy metabolism. Previous studies suggest that common variants in mtDNA are associated with several common complex diseases, including obesity. To test the hypothesis that common mtDNA variants influence obesity-related phenotypes, including BMI and body fat mass, we genotyped a total of 445 mtSNPs across the whole mitochondrial genome in a large sample of 2,286 unrelated Caucasian subjects. 72 of these 445 mtSNPs passed quality control criteria, and were used for subsequent analyses. We also classified all subjects into nine common European haplogroups. Association analyses were conducted for both BMI and body fat mass with single mtSNPs and mtDNA haplogroups. Two mtSNPs, mt4823 and mt8873 were detected to be significantly associated with body fat mass, with adjusted P values of 4.94 × 10⁻³ and 4.58 × 10⁻², respectively. The minor alleles mt4823 C and mt8873 A were associated with reduced fat mass values and the effect size (β was estimated to be 3.52 and 3.18, respectively. These two mtSNPs also achieved nominally significant levels for association with BMI. For haplogroup analyses, we found that haplogroup X was strongly associated with both BMI (adjusted P = 8.31 × 10⁻³ and body fat mass (adjusted P = 5.67×10⁻⁴ Subjects classified as haplogroup X had lower BMI and fat mass values, with the β estimated to be 2.86 and 6.03, respectively. Our findings suggest that common variants in mitochondria might play a role in variations of body fat mass. Further molecular and functional studies will be needed to clarify the potential mechanism.

  8. Data-variant kernel analysis

    CERN Document Server

    Motai, Yuichi

    2015-01-01

    Describes and discusses the variants of kernel analysis methods for data types that have been intensely studied in recent years This book covers kernel analysis topics ranging from the fundamental theory of kernel functions to its applications. The book surveys the current status, popular trends, and developments in kernel analysis studies. The author discusses multiple kernel learning algorithms and how to choose the appropriate kernels during the learning phase. Data-Variant Kernel Analysis is a new pattern analysis framework for different types of data configurations. The chapters include

  9. La centralidad en las comunicaciones y la influencia percibida en los pequeños grupos The communication centrality and the perceived influence in small groups

    Directory of Open Access Journals (Sweden)

    Nancy Noemi Terroni

    2003-06-01

    Full Text Available Este trabajo reporta los resultados de medidas del análisis de redes en la comunicación de pequeños grupos que resuelven una tarea de recuperación de memoria y su asociación con la influencia percibida. El reactivo empleado es una historia y los 65 participantes, alumnos de la Universidad Nacional de Mar del Plata, debieron reconstruir la misma primero en forma individual, luego grupal colaborativa y nuevamente en forma individual. Se registraron las interacciones grupales con comunicación cara a cara y mediada por computadora; se analizaron las medidas de prominencia, la centralidad y el prestigio de la comunicación y el tipo de alocución, orientado a la gestión grupal o hacia la tarea. Se observaron asociaciones significativas entre las medidas reticulares y la influencia percibida para ambos medios de comunicación y se hallaron diferencias en la comunicación de gestión grupal. Se discuten estos resultados con relación a las restricciones que imponen los canales de comunicación mediados.This work reports reticular measures of the social network analysis in the communication of small groups while solving a recall memory task and their association with the perceived influence. The task used is a story and the 65 subjects, students at the Mar del Plata University had to reconstruct the story, first individually, then in collaborative groups and again individually. The subjects’ interactions in face to face and computer mediated communication groups were recorded; the prominence measures, the centrality and the prestige of the communication and the type of speech were analyzed, oriented to the group management or towards the task (conceptual. Significant associations between the reticular measures and the perceived influence were observed, for both media, and differences in the group management communications were found. These results in relation to the restrictions of the communication mediated channels are discussed.

  10. Occurrence and air-soil exchange of organochlorine pesticides and polychlorinated biphenyls at a CAWNET background site in central China: Implications for influencing factors and fate.

    Science.gov (United States)

    Zhan, Lingxi; Lin, Tian; Wang, Zuwu; Cheng, Zhineng; Zhang, Gan; Lyu, Xiaopu; Cheng, Hairong

    2017-11-01

    Ambient air and soil samples were collected between March 2012 and March 2013 at Jinsha, a regional background site in central China, to measure the concentrations of organochlorine pesticides (OCPs) and polychlorinated biphenyls (PCBs). The average concentrations of total OCPs and total PCBs were 191 ± 107 and 39.4 ± 27.1 pg/m 3 in air (gaseous and particulate phase) and 0.585 ± 0.437 and 0.083 ± 0.039 ng/g in soil, respectively. The higher concentrations of p,p'-dichlorodiphenyltrichloroethane (p,p'-DDT) and p,p'-DDT/p,p'-DDE ratios in the soil indicated recent p,p'-DDT input to the soil. A strong positive temperature dependence and average fugacity fraction value > 0.5 were observed for p,p'-DDT, suggesting that volatilization of residual DDT in the soil was the main influencing factor on atmospheric p,p'-DDT. Highly average fugacity fractions (>0.7) of trans-chlordane (TC) and cis-chlordane (CC) and high TC/CC ratios both in the soil and atmosphere suggested fresh inputs. Higher gaseous concentrations of hexachlorobenzene (HCB) were observed in winter and negative temperature dependence was directly attributed to the surrounding ongoing source (e.g. fuel consuming activities), especially in winter. Overall, most targeted OCPs and PCBs were influenced by long-range transport, and fugacity fraction values indicated highly volatile compounds (e.g. α-hexachlorocyclohexane (α-HCH) and lower chlorinated PCBs) were volatilized and low volatility compounds (e.g. p,p'-DDE and higher chlorinated PCBs) were deposited at the air-soil interface. Knowing the source and sink of OCPs and PCBs can help to control their pollution in this area and provide a reference for other studies. Copyright © 2017 Elsevier Ltd. All rights reserved.

  11. Influence of Trap Height and Bait Type on Abundance and Species Diversity of Cerambycid Beetles Captured in Forests of East-Central Illinois.

    Science.gov (United States)

    Schmeelk, Thomas C; Millar, Jocelyn G; Hanks, Lawrence M

    2016-08-01

    We assessed how height of panel traps above the forest floor, and the type of trap bait used, influenced the abundance and diversity of cerambycid beetles caught in forested areas of east-central Illinois. Panel traps were suspended from branches of hardwood trees at three heights above the ground: understory (∼1.5 m), lower canopy (∼6 m), and midcanopy (∼12 m). Traps were baited with either a multispecies blend of synthesized cerambycid pheromones or a fermenting bait mixture. Traps captured a total of 848 beetles of 50 species in the cerambycid subfamilies Cerambycinae, Lamiinae, Lepturinae, and Parandrinae, and one species in the closely related family Disteniidae. The species caught in highest numbers was the cerambycine Anelaphus pumilus (Newman), represented by 349 specimens. The 17 most abundant species (mean ± 1 SD: 45 ± 80 specimens per species) included 12 cerambycine and five lamiine species. Of these most abundant species, 13 (77%) were attracted to traps baited with the pheromone blend. Only the cerambycine Eburia quadrigeminata (Say) was attracted by the fermenting bait. Three species were captured primarily in understory traps, and another five species primarily in midcanopy traps. Variation among cerambycid species in their vertical distribution in forests accounted for similar overall abundances and species richness across trap height treatments. These findings suggest that trapping surveys of native communities of cerambycids, and quarantine surveillance for newly introduced exotic species, would be optimized by including a variety of trap baits and distributing traps across vertical strata of forests. © The Authors 2016. Published by Oxford University Press on behalf of Entomological Society of America. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  12. The influence of El Niño-Southern Oscillation (ENSO) cycles on wave-driven sea-floor sediment mobility along the central California continental margin

    Science.gov (United States)

    Storlazzi, Curt D.; Reid, Jane A.

    2010-01-01

    Ocean surface waves are the dominant temporally and spatially variable process influencing sea floor sediment resuspension along most continental shelves. Wave-induced sediment mobility on the continental shelf and upper continental slope off central California for different phases of El Niño-Southern Oscillation (ENSO) events was modeled using monthly statistics derived from more than 14 years of concurrent hourly oceanographic and meteorologic data as boundary input for the Delft SWAN wave model, gridded sea floor grain-size data from the usSEABED database, and regional bathymetry. Differences as small as 0.5 m in wave height, 1 s in wave period, and 10° in wave direction, in conjunction with the spatially heterogeneous unconsolidated sea-floor sedimentary cover, result in significant changes in the predicted mobility of continental shelf surficial sediment in the study area. El Niño events result in more frequent mobilization on the inner shelf in the summer and winter than during La Niña events and on the outer shelf and upper slope in the winter months, while La Niña events result in more frequent mobilization on the mid-shelf during spring and summer months than during El Niño events. The timing and patterns of seabed mobility are addressed in context of geologic and biologic processes. By understanding the spatial and temporal variability in the disturbance of the sea floor, scientists can better interpret sedimentary patterns and ecosystem structure, while providing managers and planners an understanding of natural impacts when considering the permitting of offshore activities that disturb the sea floor such as trawling, dredging, and the emplacement of sea-floor engineering structures.

  13. The influence of central corneal thickness and age on intraocular pressure measured by pneumotonometry, non-contact tonometry, the Tono-Pen XL, and Goldmann applanation tonometry.

    Science.gov (United States)

    Tonnu, P-A; Ho, T; Newson, T; El Sheikh, A; Sharma, K; White, E; Bunce, C; Garway-Heath, D

    2005-07-01

    To evaluate the influence of central corneal thickness (CCT) on intraocular pressure (IOP) measurements made with the Goldmann applanation tonometer (GAT), Tono-Pen XL, ocular blood flow tonograph (OBF), and Canon TX-10 non-contact tonometer (NCT). CCT was recorded for either eye (randomly selected) of each of 105 untreated patients with ocular hypertension and glaucoma attending the glaucoma research unit at Moorfields Eye Hospital. For each of the selected eyes, IOP was measured with the GAT (two observers), Tono-Pen, OBF, and NCT in a randomised order. The relation of measured IOP and of inter-tonometer differences with CCT and subject age was explored by linear regression analysis. A significant association between measured IOP and CCT was found with each instrument. The change in measured IOP for a 10 mum increase in CCT was 0.28, 0.31, 0.38, and 0.46 for the GAT, Tono-Pen, OBF, and NCT, respectively (all p< or = 0.05). There was a significant association between the NCT/GAT differences and CCT, with a tendency of NCT to overestimate GAT in eyes with thicker corneas. There was a significant association between GAT/Tono-Pen and OBF/Tono-Pen differences and age, with a tendency of GAT and OBF to overestimate the Tono-Pen in eyes of older subjects. IOP measurement by all four methods is affected by CCT. The NCT is affected by CCT significantly more than the GAT. Subject age has a differential effect on the IOP measurements made by the GAT and OBF compared to the Tono-Pen.

  14. Factors influencing temporal changes in chemical composition of biogenic deposits in the middle Tążyna River Valley (Kuyavian Lakeland, central Poland)

    Science.gov (United States)

    Okupny, Daniel; Rzepecki, Seweryn; Borówka, Ryszard Krzysztof; Forysiak, Jacek; Twardy, Juliusz; Fortuniak, Anna; Tomkowiak, Julita

    2016-06-01

    The present paper discusses the influence of geochemical properties on biogenic deposits in the Wilkostowo mire near Toruń, central Poland. The analysed core has allowed the documentation of environmental changes between the older part of the Atlantic Period and the present day (probably interrupted at the turn of the Meso- and Neoholocene). In order to reconstruct the main stages in the sedimentation of biogenic deposits, we have used stratigraphic variability of selected litho-geochemical elements (organic matter, calcium carbonate, biogenic and terrigenous silica, macro- and micro-elements: Na, K, Mg, Ca, Fe, Mn, Cu, Zn, Pb, Cr and Ni). The main litho-geochemical component is CaCO3; its content ranges from 4.1 per cent to 92 per cent. The variability of CaCO3 content reflects mainly changes in hydrological and geomorphological conditions within the catchment area. The effects of prehistoric anthropogenic activities in the catchment of the River Tążyna, e.g., the use of saline water for economic purposes, are recorded in a change from calcareous gyttja into detritus-calcareous gyttja sedimentation and an increased content of lithophilous elements (Na, K, Mg and Ni) in the sediments. Principal component analysis (PCA) has enabled the distinction the most important factors that affected the chemical composition of sediments at the Wilkostowo site, i.e., mechanical and chemical denudation processes in the catchment, changes in redox conditions, bioaccumulation of selected elements and human activity. Sediments of the Wilkostowo mire are located in the direct vicinity of an archaeological site, where traces of intensive settlement dating back to the Neolithic have been documented. The settlement phase is recorded both in lithology and geochemical properties of biogenic deposits which fill the reservoir formed at the bottom of the Parchania Canal Valley.

  15. Potential influence of the late Holocene climate on settled farming versus nomadic cattle herding in the Minusinsk Hollow, south-central Siberia

    International Nuclear Information System (INIS)

    Blyakharchuk, T A; Tchebakova, N M; Parfenova, E I; Soja, A J

    2014-01-01

    Prehistoric and early historic human cultures are known to be closely connected to and dependent on their natural environments. We test the hypothesis that climate change influenced the means of subsistence of ancient tribes and favored agricultural or cattle herding economic strategies. Our study area is the Khakass–Minusinsk Hollow, located in the foothills of the Sayan Mountains, south-central Siberia, which was, for a few millennia, a buffer zone for human migrations across the Great Eurasian Steppe. Three different methods (the Montane BioClimatic Model, MontBCliM; the biomization method; and the actualizm method) are employed to reconstruct vegetation taken from the fossil pollen of sediment cores in two mountain lakes at eleven time slices related to successive human cultures back to the mid-Holocene. MontBCliM model is used inversely to convert site paleo-vegetation into site paleo-climates. Climate-based regression models are developed and applied to reconstructed climates to evaluate possible pasture and grain crops for these time slices. Pollen-based reconstructions of the climate fluctuations uncovered several dry periods with steppe and forest-steppe and wetter periods with forests since 6000 BP. Grasslands increased by an order of magnitude during the dry periods and provided extensive open space suitable for pastoralism; however, both grain and pasture yields decreased during these dry periods. During wetter climates, both grain and pasture yields increased twofold and supported more fixed human settlements centered around farming and cattle herding. Thus, the dry periods favored pastoralist rather than farming activities. Conversely, tribes that practiced agriculture had some advantage in the wet periods. (papers)

  16. Factors influencing temporal changes in chemical composition of biogenic deposits in the middle Tążyna River Valley (Kuyavian Lakeland, central Poland

    Directory of Open Access Journals (Sweden)

    Okupny Daniel

    2016-06-01

    Full Text Available The present paper discusses the influence of geochemical properties on biogenic deposits in the Wilkostowo mire near Toruń, central Poland. The analysed core has allowed the documentation of environmental changes between the older part of the Atlantic Period and the present day (probably interrupted at the turn of the Meso- and Neoholocene. In order to reconstruct the main stages in the sedimentation of biogenic deposits, we have used stratigraphic variability of selected litho-geochemical elements (organic matter, calcium carbonate, biogenic and terrigenous silica, macro- and micro-elements: Na, K, Mg, Ca, Fe, Mn, Cu, Zn, Pb, Cr and Ni. The main litho-geochemical component is CaCO3; its content ranges from 4.1 per cent to 92 per cent. The variability of CaCO3 content reflects mainly changes in hydrological and geomorphological conditions within the catchment area. The effects of prehistoric anthropogenic activities in the catchment of the River Tążyna, e.g., the use of saline water for economic purposes, are recorded in a change from calcareous gyttja into detritus-calcareous gyttja sedimentation and an increased content of lithophilous elements (Na, K, Mg and Ni in the sediments. Principal component analysis (PCA has enabled the distinction the most important factors that affected the chemical composition of sediments at the Wilkostowo site, i.e., mechanical and chemical denudation processes in the catchment, changes in redox conditions, bioaccumulation of selected elements and human activity. Sediments of the Wilkostowo mire are located in the direct vicinity of an archaeological site, where traces of intensive settlement dating back to the Neolithic have been documented. The settlement phase is recorded both in lithology and geochemical properties of biogenic deposits which fill the reservoir formed at the bottom of the Parchania Canal Valley.

  17. Identifying genetic variants that affect viability in large cohorts.

    Directory of Open Access Journals (Sweden)

    Hakhamanesh Mostafavi

    2017-09-01

    Full Text Available A number of open questions in human evolutionary genetics would become tractable if we were able to directly measure evolutionary fitness. As a step towards this goal, we developed a method to examine whether individual genetic variants, or sets of genetic variants, currently influence viability. The approach consists in testing whether the frequency of an allele varies across ages, accounting for variation in ancestry. We applied it to the Genetic Epidemiology Research on Adult Health and Aging (GERA cohort and to the parents of participants in the UK Biobank. Across the genome, we found only a few common variants with large effects on age-specific mortality: tagging the APOE ε4 allele and near CHRNA3. These results suggest that when large, even late-onset effects are kept at low frequency by purifying selection. Testing viability effects of sets of genetic variants that jointly influence 1 of 42 traits, we detected a number of strong signals. In participants of the UK Biobank of British ancestry, we found that variants that delay puberty timing are associated with a longer parental life span (P~6.2 × 10-6 for fathers and P~2.0 × 10-3 for mothers, consistent with epidemiological studies. Similarly, variants associated with later age at first birth are associated with a longer maternal life span (P~1.4 × 10-3. Signals are also observed for variants influencing cholesterol levels, risk of coronary artery disease (CAD, body mass index, as well as risk of asthma. These signals exhibit consistent effects in the GERA cohort and among participants of the UK Biobank of non-British ancestry. We also found marked differences between males and females, most notably at the CHRNA3 locus, and variants associated with risk of CAD and cholesterol levels. Beyond our findings, the analysis serves as a proof of principle for how upcoming biomedical data sets can be used to learn about selection effects in contemporary humans.

  18. GCPII Variants, Paralogs and Orthologs

    Czech Academy of Sciences Publication Activity Database

    Hlouchová, Klára; Navrátil, Václav; Tykvart, Jan; Šácha, Pavel; Konvalinka, Jan

    2012-01-01

    Roč. 19, č. 9 (2012), s. 1316-1322 ISSN 0929-8673 R&D Projects: GA ČR GAP304/12/0847 Institutional research plan: CEZ:AV0Z40550506 Keywords : PSMA * GCPIII * NAALADase L * splice variants * homologs * PSMAL Subject RIV: CE - Biochemistry Impact factor: 4.070, year: 2012

  19. Odontogenic keratocyst: a peripheral variant.

    Science.gov (United States)

    Vij, H; Vij, R; Gupta, V; Sengupta, S

    2011-01-01

    Odontogenic keratocyst, which is developmental in nature, is an intraosseous lesion though on rare occasions it may occur in an extraosseous location. The extraosseous variant is referred to as peripheral odontogenic keratocyst. Though, clinically, peripheral odontogenic keratocyst resembles the gingival cyst of adults, it has histologic features that are pathognomonic of odontogenic keratocyst. This article presents a case of this uncommon entity.

  20. The combined risks of reduced or increased function variants in cell death pathway genes differentially influence cervical cancer risk and herpes simplex virus type 2 infection among black Africans and the Mixed Ancestry population of South Africa

    International Nuclear Information System (INIS)

    Chattopadhyay, Koushik; Williamson, Anna-Lise; Hazra, Annapurna; Dandara, Collet

    2015-01-01

    Cervical cancer is one of the most important cancers worldwide with a high incident and mortality rate and is caused by the human papilloma virus (HPV). Among sexually active women who get infected with human papillomavirus (HPV), a small fraction progresses to cervical cancer disease pointing to possible roles of additional risk factors in development of the disease which include host genetic factors and other infections such as HSV-2. Since cellular apoptosis plays a role in controlling the spread of virus-infections in cells, gene variants altering the function of proteins involved in cell death pathways might be associated with the clearing of virus infections. Activity altering polymorphisms in FasR (−1377G > A and -670A > G), FasL (−844 T > C) and CASP8 (−652 6 N ins/del) genes have been shown to alter the mechanism of apoptosis by modifying the level of expression of their correspondent proteins. In the present study, we set out to investigate the combined risks of CASP8, FasR, and FasL polymorphisms in cervical cancer, pre-cancerous lesions, HPV infection and HSV-2 infection. Participants were 442 South African women of black African and mixed-ancestry origin with invasive cervical cancer and 278 control women matched by age, ethnicity and domicile status. FasR and FasL polymorphisms were genotyped by TaqMan and CASP8 polymorphism by PCR-RFLP. The results were analysed with R using haplo.stats software version 1.5.2. CASP8 -652 6 N del + FasR-670A was associated with a reduced risk (P = 0.019, Combined Polymorphism Score (CPS) = −2.34) and CASP8 -652 6 N ins + FasR-1377G was associated with a marginal increased risk (P = 0.047, CPS = 1.99) of cervical cancer among black Africans. When compared within the control group, CASP8 -652 6 N ins + FasR-1377A showed a reduced risk (P = 0.023, CPS = −2.28) of HSV-2 infection in both black African and mixed-ancestry population. Our results show that the combined risks of variants in cell death pathway genes

  1. The combined risks of reduced or increased function variants in cell death pathway genes differentially influence cervical cancer risk and herpes simplex virus type 2 infection among black Africans and the Mixed Ancestry population of South Africa.

    Science.gov (United States)

    Chattopadhyay, Koushik; Williamson, Anna-Lise; Hazra, Annapurna; Dandara, Collet

    2015-10-12

    Cervical cancer is one of the most important cancers worldwide with a high incident and mortality rate and is caused by the human papilloma virus (HPV). Among sexually active women who get infected with human papillomavirus (HPV), a small fraction progresses to cervical cancer disease pointing to possible roles of additional risk factors in development of the disease which include host genetic factors and other infections such as HSV-2. Since cellular apoptosis plays a role in controlling the spread of virus-infections in cells, gene variants altering the function of proteins involved in cell death pathways might be associated with the clearing of virus infections. Activity altering polymorphisms in FasR (-1377G > A and -670A > G), FasL (-844 T > C) and CASP8 (-652 6 N ins/del) genes have been shown to alter the mechanism of apoptosis by modifying the level of expression of their correspondent proteins. In the present study, we set out to investigate the combined risks of CASP8, FasR, and FasL polymorphisms in cervical cancer, pre-cancerous lesions, HPV infection and HSV-2 infection. Participants were 442 South African women of black African and mixed-ancestry origin with invasive cervical cancer and 278 control women matched by age, ethnicity and domicile status. FasR and FasL polymorphisms were genotyped by TaqMan and CASP8 polymorphism by PCR-RFLP. The results were analysed with R using haplo.stats software version 1.5.2. CASP8 -652 6 N del + FasR-670A was associated with a reduced risk (P = 0.019, Combined Polymorphism Score (CPS) = -2.34) and CASP8 -652 6 N ins + FasR-1377G was associated with a marginal increased risk (P = 0.047, CPS = 1.99) of cervical cancer among black Africans. When compared within the control group, CASP8 -652 6 N ins + FasR-1377A showed a reduced risk (P = 0.023, CPS = -2.28) of HSV-2 infection in both black African and mixed-ancestry population. Our results show that the combined risks of

  2. Influence of genetic variants of CYP2D6, CYP2C9, CYP2C19 and CYP3A4 on antiepileptic drug metabolism in pediatric patients with refractory epilepsy.

    Science.gov (United States)

    López-García, Miguel A; Feria-Romero, Iris A; Serrano, Héctor; Rayo-Mares, Darío; Fagiolino, Pietro; Vázquez, Marta; Escamilla-Núñez, Consuelo; Grijalva, Israel; Escalante-Santiago, David; Orozco-Suarez, Sandra

    2017-06-01

    Identified the polymorphisms of CYP2D6, CYP2C9, CYP2C19 and CYP3A4, within a rigorously selected population of pediatric patients with drug-resistant epilepsy. The genomic DNA of 23 drug-resistant epilepsy patients and 7 patients with good responses were analyzed. Ten exons in these four genes were genotyped, and the drug concentrations in saliva and plasma were determined. The relevant SNPs with pharmacogenomics relations were CYP2D6*2 (rs16947) decreased your activity and CYP2D6*4 (rs1065852), CYP2C19*2 (rs4244285) and CYP3A4*1B (rs2740574) by association with poor metabolizer. The strongest risk factors were found in the AA genotype and allele of SNP rs3892097 from the CYP2D6 gene, followed by the alleles A and T of SNPs rs2740574 and rs2687116, respectively from CYP3A4. The most important concomitance was between homozygous genotype AA of rs3892097 and genotype AA of rs2740574 with 78.3% in drug-resistant epilepsy patients as compared to 14.3% in control patients. The results demonstrated the important role of the CYP 3A4*1B allelic variant as risk factor for developing drug resistance and CYP2D6, CYP2C19 SNPs and haplotypes may affect the response to antiepileptic drugs. Copyright © 2017. Published by Elsevier Urban & Partner Sp. z o.o.

  3. Swine Influenza/Variant Influenza Viruses

    Science.gov (United States)

    ... Address What's this? Submit What's this? Submit Button Influenza Types Seasonal Avian Swine Variant Pandemic Other Information on Swine Influenza/Variant Influenza Virus Language: English (US) Español Recommend ...

  4. Central banks: Paradise lost

    OpenAIRE

    Issing, Otmar

    2012-01-01

    The focus of the paper is to analyze how the concept behind central bank policy developed over time and how the recent financial crisis and its consequences will have an influence. While the principles of the institutional arrangement for central banks (independence, clear mandate, prohibition of monetary financing) are relevant as ever, pre- crisis consensus strategies of monetary policy have been revealed as flawed. The close monitoring of money and credit developments, a key lesson to be d...

  5. Micromechanics of transformation-induced plasticity and variant coalescence

    International Nuclear Information System (INIS)

    Marketz, F.; Fischer, F.D.; University for Mining and Metallurgy, Leoben; Tanaka, K.

    1996-01-01

    Quantitative micromechanics descriptions of both transformation-induced plasticity (TRIP) associated with the martensitic transformation in an Fe-Ni alloy and of variant coalescence in a Cu-Al-Ni shape memory alloy are presented. The macroscopic deformation behavior of a polycrystalline aggregate as a result of the rearrangements within the crystallites is modelled with the help of a finite element based periodic microfield approach. In the case of TRIP the parent→martensite transformation is described by microscale thermodynamic and kinetic equations taking into account internal stress states. The simulation of a classical experiment on TRIP allows to quantify the Magee-effect and the Greenwood-Johnson effect. Furthermore, the development of the martensitic microstructure is studied with respect to the stress-assisted transformation of preferred variants. In the case of variant coalescence the strain energy due to internal stress states has an important influence on the mechanical behavior. Formulating the reorientation process on the size scale of self-accommodating plate groups in terms of the mobility of the boundaries between martensitic variants the macroscopic behavior in uniaxial tension is predicted by an incremental modelling procedure. Furthermore, influence of energy dissipation on the overall behavior is quantified. (orig.)

  6. Towards a smoke-free hospital: how the smoking status of health professionals influences their knowledge, attitude and clinical activity. Results from a hospital in central Italy.

    Science.gov (United States)

    Giorgi, E; Marani, A; Salvati, O; Mangiaracina, G; Prestigiacomo, C; Osborn, J F; Cattaruzza, M S

    2015-01-01

    In Italy, the prevalence of smoking among health professionals is higher than in the general population and this might hamper their role in the promotion of health. This study aimed to investigate how the smoking status of healthcare professionals might influence knowledge, attitudes and clinical practice in a hospital in central Italy in order to enforce effective tobacco control measures. Physicians and professionals of the hospital were asked to complete an anonymous questionnaire which yielded epidemiological and environmental information on knowledge, attitude, clinical practice and quality of the hospital environments, in relation to smoking. Overall, among the employees of the hospital, the smoking prevalence was 47%, (42% among physicians and 43% among nurses); 30% admitted smoking in the hospital and three quarters of the smokers would like to quit. Some knowledge, opinions and attitudes differ statistically among the smoking categories. For example, only 35% of the smokers admitted that smoking is more dangerous to health than atmospheric and car pollution compared with 60% of the ex or never smokers (p=0.04). Fewer smokers realize that their behavior is seen as a role model by patients. A greater percentage of smokers state that patients (34%) and visitors (43%) often smoke in hospital and these percentages are significantly higher than those reported by ex or never smokers (p≤0.05). All smokers claim that they never smoke in patient rooms, infirmaries and clinics, whereas over 20% of ex or never smokers report that smoking sometimes occurs in these places (p=0.015). The mean concentration of PM 2.5 in the 25 rooms was 2.4 μg/m3 with a range from 1 to 7 μg/m3. This study implies that the prevalence of smoking among health professionals may be very high, and might be twice the rate observed in the general population. Generally, smokers report less knowledge compared with ex and never-smokers and it seems that they systematically underestimate the

  7. Tectonic uplift-influenced monsoonal changes promoted hominin occupation of the Luonan Basin: Insights from a loess-paleosol sequence, eastern Qinling Mountains, central China

    Science.gov (United States)

    Fang, Qian; Hong, Hanlie; Zhao, Lulu; Furnes, Harald; Lu, Huayu; Han, Wen; Liu, Yao; Jia, Zhuoyue; Wang, Chaowen; Yin, Ke; Algeo, Thomas J.

    2017-08-01

    Quaternary soil deposits from northern and southern China are distinctly different, reflecting variability of the East Asian monsoon north and south of the Qinling Mountains. Coeval sediments from the transitional climatic zone of central China, which are little studied to date, have the potential to improve our understanding of Quaternary monsoon changes and associated influences on hominin occupation of this region. Here, we investigate in detail a well-preserved and continuous Quaternary loess-paleosol sequence (Shangbaichuan) from the Luonan Basin, using a variety of weathering indices including major and trace element ratios, clay mineralogy, and Fe-oxide mineralogy. The whole-rock samples display similar rare earth element patterns characterized by upper continental crustal ratios: (La/Yb)N ≈ 9.5 and Eu/Eu* ≈ 0.65. Elemental data such as (La/Yb)N, La/Th and Eu/Eu* ratios show a high degree of homogeneity, suggesting that dust in the source region may have been thoroughly mixed and recycled, resulting in all samples having a uniform initial composition. Indices for pedogenic weathering such as Na/K, Ba/Sr, Rb/Sr, CIA, CIW, CPA, PIA, kaolinite/illite, (kaolinite + smectite)/illite, and hematite/(hematite + goethite) exhibit similar secular trends and reveal a four-stage accumulation history. The indices also indicate that the climate was warmer and wetter during the most recent interglacial stage, compared with coeval environments of the Chinese Loess Plateau. Secular changes in weathering intensity can be related to stepwise uplift of the Qinling Mountains and variation in East Asian monsoon intensity, both of which played significant roles in controlling climate evolution in the Luonan Basin. Furthermore, intensified aridity and winter monsoon strength in dust source areas, as evidenced by mineralogic and geochemical changes, may have been due to the mid-Pleistocene climate transition. Based on temporal correlation of warmer and wetter climatic conditions

  8. Tectonic evolution of the central-eastern sector of Trans Mexican Volcanic Belt and its influence on the eruptive history of the Nevado de Toluca volcano (Mexico)

    Science.gov (United States)

    Bellotti, F.; Capra, L.; Groppelli, G.; Norini, G.

    2006-11-01

    The Nevado de Toluca is an andesitic to dacitic stratovolcano of Late Pliocene-Holocene age located within the central and eastern sectors of the Trans Mexican Volcanic Belt. Morphostructural analysis, aerial photograph and satellite image interpretation, structural analysis and geological fieldwork were methods used to investigate the relationship between the evolution of the volcano and the tectonic framework of its basement. The study revealed that the area of Nevado de Toluca is affected by three main fault systems that intersect close to the volcanic edifice. These are from oldest to youngest, the Taxco-Querétaro, San Antonio and Tenango fault systems. The NNW-SSE Taxco-Querétaro fault system was active in the area since Early Miocene, and is characterized by right-lateral transtensive movement. Its reactivation during Early to Middle Pleistocene was responsible for the emplacement of andesitic to dacitic lava flows and domes of La Cieneguilla Supersynthem. The NE-SW San Antonio fault system was active during Late Pliocene, before the reactivation of the Taxco-Querétaro fault system, and is characterized by extensional left-lateral oblique-slip kinematics. The youngest is the E-W Tenango fault system that has been active since Late Pleistocene. This fault system is characterized by transtensive left-lateral strike-slip movement, and partly coeval with the youngest eruptive phase, the Nevado Supersynthem, which formed the present summit cone of the Nevado de Toluca volcano. The stress re-orientation from the Taxco-Querétaro to the Tenango fault system during Late Pleistocene is responsible for the ˜ 1 Ma hiatus in the magmatic activity between 1.15 Ma and 42 ka. After this period of repose, the eruptive style drastically changed from effusive to explosive with the emission of dacitic products. The methodology presented here furnish new data that can be used to better assess the complex structural evolution of this sector of the Trans Mexican Volcanic Belt

  9. Two new splice variants in porcine PPARGC1A

    Directory of Open Access Journals (Sweden)

    Peelman Luc J

    2008-12-01

    Full Text Available Abstract Background Peroxisome proliferator-activated receptor γ coactivator 1α (PPARGC1A is a coactivator with a vital and central role in fat and energy metabolism. It is considered to be a candidate gene for meat quality in pigs and is involved in the development of obesity and diabetes in humans. How its many functions are regulated, is however still largely unclear. Therefore a transcription profile of PPARGC1A in 32 tissues and 4 embryonic developmental stages in the pig was constructed by screening its cDNA for possible splice variants with exon-spanning primers. Findings This led to the discovery of 2 new splice variants in the pig, which were subsequently also detected in human tissues. In these variants, exon 8 was either completely or partly (the last 66 bp were conserved spliced out, potentially coding for a much shorter protein of respectively 337 and 359 amino acids (aa, of which the first 291 aa would be the same compared to the complete protein (796 aa. Conclusion Considering the functional domains of the PPARGC1A protein, it is very likely these splice variants considerably affect the function of the protein and alternative splicing could be one of the mechanisms by which the diverse functions of PPARGC1A are regulated.

  10. Influence of drainage status on soil and water chemistry, litter decomposition and soil respiration in central Amazonian forests on sandy soils

    NARCIS (Netherlands)

    Berton Zanchi, F.; Waterloo, M.J.; Dolman, A.J.; Groenendijk, M.; Kruijt, B.

    2011-01-01

    Central Amazonian rainforest landscape supports a mosaic of tall terra firme rainforest and ecotone campinarana, riparian and campina forests, reflecting topography-induced variations in soil, nutrient and drainage conditions. Spatial and temporal variations in litter decomposition, soil and

  11. The particularities of vegetative regulation of central haemodynamic at children living in condition of chronic radiation and chemical influence in low doses

    International Nuclear Information System (INIS)

    Zherko, O.M.

    2000-01-01

    398 children 7-16 years old living in condition of environmental threats have been examined. The most essential changes of the vegetative regulation of central haemodynamic have been found at children 7-13 years old. The distortion of vegetative regulation of the central haemodynamic have been revealed: sympatcotonia in case of arterial hypotensia and deficiency of sympathetic regulation of arterial hypertensia. Level of hormones of the sympatoadrenality system was fall. (authors)

  12. Identificação de variantes de hemoglobina em doadores de sangue Identification of hemoglobin variants in blood donor

    Directory of Open Access Journals (Sweden)

    Ana C. Bonini-Domingos

    2004-03-01

    Full Text Available Hemoglobinopathies are the most common genetic diseases and affect a great number of individuals in the world, with diverse clinical complications ranging from the almost unnoticeable to lethal consequences. In Brazil the occurrence of hemoglobinopathies is very frequent and influenced by the ethnical groups that are the basis of populations in different regions. The phenotype may be influenced by environmental and genetic factors and by migration. An understanding of these genetic diseases is important for the health and quality of life of the population. In this work we assessed the presence of Hb variants in blood donors from São José do Rio Preto and region, and we observed the occurrence of variants including Hb S and Hb C but in particular the so-called "S-Like" variants. Good determination of the forms of variant hemoglobins is very important to give better guidance to blood donors and their families, and to improve the quality of blood transfusion.

  13. Coronary artery anatomy and variants

    Energy Technology Data Exchange (ETDEWEB)

    Malago, Roberto; Pezzato, Andrea; Barbiani, Camilla; Alfonsi, Ugolino; Nicoli, Lisa; Caliari, Giuliana; Pozzi Mucelli, Roberto [Policlinico G.B. Rossi, University of Verona, Department of Radiology, Verona (Italy)

    2011-12-15

    Variants and congenital anomalies of the coronary arteries are usually asymptomatic, but may present with severe chest pain or cardiac arrest. The introduction of multidetector CT coronary angiography (MDCT-CA) allows the detection of significant coronary artery stenosis. Improved performance with isotropic spatial resolution and higher temporal resolution provides a valid alternative to conventional coronary angiography (CCA) in many patients. MDCT-CA is now considered the ideal tool for three-dimensional visualization of the complex and tortuous anatomy of the coronary arteries. With multiplanar and volume-rendered reconstructions, MDCT-CA may even outperform CCA in determining the relative position of vessels, thus providing a better view of the coronary vascular anatomy. The purpose of this review is to describe the normal anatomy of the coronary arteries and their main variants based on MDCT-CA with appropriate reconstructions. (orig.)

  14. Microcystic Variant of Urothelial Carcinoma

    Directory of Open Access Journals (Sweden)

    Anthony Kodzo-Grey Venyo

    2013-01-01

    Full Text Available Background. Microcystic variant of urothelial carcinoma is one of the new variants of urothelial carcinoma that was added to the WHO classification in 2004. Aims. To review the literature on microcystic variant of urothelial carcinoma. Methods. Various internet search engines were used to identify reported cases of the tumour. Results. Microscopic features of the tumour include: (i Conspicuous intracellular and intercellular lumina/microcysts encompassed by malignant urothelial or squamous cells. (ii The lumina are usually empty; may contain granular eosinophilic debris, mucin, or necrotic cells. (iii The cysts may be variable in size; round, or oval, up to 2 mm; lined by urothelium which are either flattened cells or low columnar cells however, they do not contain colonic epithelium or goblet cells; are infiltrative; invade the muscularis propria; mimic cystitis cystica and cystitis glandularis; occasionally exhibit neuroendocrine differentiation. (iv Elongated and irregular branching spaces are usually seen. About 17 cases of the tumour have been reported with only 2 patients who have survived. The tumour tends to be of high-grade and high-stage. There is no consensus opinion on the best option of treatment of the tumour. Conclusions. It would prove difficult at the moment to be dogmatic regarding its prognosis but it is a highly aggressive tumour. New cases of the tumour should be reported in order to document its biological behaviour.

  15. GCKR variants increase triglycerides while protecting from insulin resistance in Chinese children.

    Science.gov (United States)

    Shen, Yue; Wu, Lijun; Xi, Bo; Liu, Xin; Zhao, Xiaoyuan; Cheng, Hong; Hou, Dongqing; Wang, Xingyu; Mi, Jie

    2013-01-01

    Variants in gene encoding glucokinase regulator protein (GCKR) were found to have converse effects on triglycerides and glucose metabolic traits. We aimed to investigate the influence of GCKR variants for triglycerides and glucose metabolic traits in Chinese children and adults. We genotyped two GCKR variants rs1260326 and rs1260333 in children and adults, and analyzed the association between two variants and triglycerides, glucose, insulin and HOMA-IR using linear regression model, and estimated the effect on insulin resistance using logistic regression model. Rs1260326 and rs1260333 associated with increased triglycerides in children and adults (ptriglycerides in Chinese children and adults. Triglycerides-increasing alleles of GCKR variants reduce insulin and HOMA-IR index, and protect from insulin resistance in children. Our results suggested GCKR has an effect on development of insulin resistance in Chinese children.

  16. Characterization of form variants of Xenorhabdus luminescens.

    Science.gov (United States)

    Gerritsen, L J; de Raay, G; Smits, P H

    1992-01-01

    From Xenorhabdus luminescens XE-87.3 four variants were isolated. One, which produced a red pigment and antibiotics, was luminescent, and could take up dye from culture media, was considered the primary form (XE-red). A pink-pigmented variant (XE-pink) differed from the primary form only in pigmentation and uptake of dye. Of the two other variants, one produced a yellow pigment and fewer antibiotics (XE-yellow), while the other did not produce a pigment or antibiotics (XE-white). Both were less luminescent, did not take up dye, and had small cell and colony sizes. These two variants were very unstable and shifted to the primary form after 3 to 5 days. It was not possible to separate the primary form and the white variant completely; subcultures of one colony always contained a few colonies of the other variant. The white variant was also found in several other X. luminescens strains. DNA fingerprints showed that all four variants are genetically identical and are therefore derivatives of the same parent. Protein patterns revealed a few differences among the four variants. None of the variants could be considered the secondary form. The pathogenicity of the variants decreased in the following order: XE-red, XE-pink, XE-yellow, and XE-white. The mechanism and function of this variability are discussed. Images PMID:1622273

  17. Benchmarking distributed data warehouse solutions for storing genomic variant information

    Science.gov (United States)

    Wiewiórka, Marek S.; Wysakowicz, Dawid P.; Okoniewski, Michał J.

    2017-01-01

    Abstract Genomic-based personalized medicine encompasses storing, analysing and interpreting genomic variants as its central issues. At a time when thousands of patientss sequenced exomes and genomes are becoming available, there is a growing need for efficient database storage and querying. The answer could be the application of modern distributed storage systems and query engines. However, the application of large genomic variant databases to this problem has not been sufficiently far explored so far in the literature. To investigate the effectiveness of modern columnar storage [column-oriented Database Management System (DBMS)] and query engines, we have developed a prototypic genomic variant data warehouse, populated with large generated content of genomic variants and phenotypic data. Next, we have benchmarked performance of a number of combinations of distributed storages and query engines on a set of SQL queries that address biological questions essential for both research and medical applications. In addition, a non-distributed, analytical database (MonetDB) has been used as a baseline. Comparison of query execution times confirms that distributed data warehousing solutions outperform classic relational DBMSs. Moreover, pre-aggregation and further denormalization of data, which reduce the number of distributed join operations, significantly improve query performance by several orders of magnitude. Most of distributed back-ends offer a good performance for complex analytical queries, while the Optimized Row Columnar (ORC) format paired with Presto and Parquet with Spark 2 query engines provide, on average, the lowest execution times. Apache Kudu on the other hand, is the only solution that guarantees a sub-second performance for simple genome range queries returning a small subset of data, where low-latency response is expected, while still offering decent performance for running analytical queries. In summary, research and clinical applications that require

  18. Soil cover patterns influence on the land environmental functions, agroecological quality, land-use and monitoring efficiency in the Central Russia

    Science.gov (United States)

    Vasenev, Ivan; Yashin, Ivan; Lukin, Sergey; Valentini, Riccardo

    2015-04-01

    First decades of XXI century actualized for soil researches the principal methodical problem of most modern geosciences: what spatial and temporal scale would be optimal for land quality evaluation and land-use practice optimizing? It is becoming obvious that this question cannot have one solution and have to be solved with especial attention on the features of concrete region and landscape, land-use history and practical issues, land current state and environmental functions, soil cover patterns and variability, governmental requirements and local society needs, best available technologies and their potential profitability. Central Russia is one of the most dynamical economic regions with naturally high and man-made complicated landscape and soil cover variability, long-term land-use history and self-contradictory issues, high potential of profitable farming and increased risks of land degradation. Global climate and technological changes essentially complicate the originally high and sharply increased in XX century farming land heterogeneity in the Central Russia that actualizes system analysis of its zonal, intra-zonal and azonal soil cover patterns according to their influence on land environmental functions, agroecological quality, and land-use and monitoring efficiency variability. Developed by the Laboratory of agroecological monitoring, ecosystem modeling & prediction (LAMP / RTSAU with support of RF Governmental projects #11.G34.31.0079 and #14.120.14.4266) regional systems of greenhouse gases environmental monitoring RusFluxNet (6 fixed & 1 mobile eddy covariance stations with zonal functional sets of key plots with chamber investigations in 5 Russian regions) and of agroecological monitoring (in representative key plots with different farming practice in 9 RF regions) allow to do this analysis in frame of enough representative regional multi-factorial matrix of soil cover patterns, bioclimatic conditions, landscape features, and land-use history and

  19. Influence of initial imperfections on ultimate strength of spherical shells

    Directory of Open Access Journals (Sweden)

    Chang-Li Yu

    2017-09-01

    Full Text Available Comprehensive consideration regarding influence mechanisms of initial imperfections on ultimate strength of spherical shells is taken to satisfy requirement of deep-sea structural design. The feasibility of innovative numerical procedure that combines welding simulation and non-linear buckling analysis is verified by a good agreement to experimental and theoretical results. Spherical shells with a series of wall thicknesses to radius ratios are studied. Residual stress and deformations from welding process are investigated separately. Variant influence mechanisms are discovered. Residual stress is demonstrated to be influential to stress field and buckling behavior but not to the ultimate strength. Deformations are proved to have a significant impact on ultimate strength. When central angles are less than critical value, concave magnitudes reduce ultimate strengths linearly. However, deformations with central angles above critical value are of much greater harm. Less imperfection susceptibility is found in spherical shells with larger wall thicknesses to radius ratios.

  20. Structural organization of process zones in upland watersheds of central Nevada and its influence on basin connectivity, dynamics, and wet meadow complexes

    Science.gov (United States)

    Jerry R. Miller; Mark L. Lord; Lionel F. Villarroel; Dru Germanoski; Jeanne C. Chambers

    2012-01-01

    The drainage network within upland watersheds in central Nevada can be subdivided into distinct zones each dominated by a unique set of processes on the basis of valley form, the geological materials that comprise the valley floor, and the presence or absence of surficial channels. On hillslopes, the type and structure (frequency, length, and spatial arrangement) of...

  1. Biological productivity, terrigenous influence and noncrustal elements supply to the Central Indian Ocean Basin: Paleoceanography during the past approx. 1 Ma

    Digital Repository Service at National Institute of Oceanography (India)

    Pattan, J.N.; Masuzawa, T.; Borole, D.V.; Parthiban, G.; Jauhari, P.; Yamamoto, M.

    A 2 m-long sediment core from the siliceous ooze domain in the Central Indian Ocean Basin (CIOB; 13 degrees 03'S: 74 degrees 44'E; water depth 5099 m) is studied for calcium carbonate, total organic carbon, total nitrogen, biogenic opal, major...

  2. Influence of elevation and forest type on community assemblage and species distribution of shrews in the central and southern Appalachian mountains

    Science.gov (United States)

    W. Mark Ford; Timothy S. McCay; Michael A. Menzel; W. David Webster; Cathryn H. Greenberg; John F. Pagels; Joseph F. Merritt; Joseph F. Merritt

    2005-01-01

    We analyzed shrew community data from 398,832 pitfall trapnights at 303 sites across the upper Piedmont, Blue Ridge, northern Ridge and Valley, southern Ridge and Valley, Cumberland Plateau and Allegheny Mountains and Plateau sections of the central and southern Appalachian Mountains from Alabama to Pennsylvania. The objectives of our research were to describe regional...

  3. Shift-Variant Multidimensional Systems.

    Science.gov (United States)

    1985-05-29

    x,y;u,v) is the system response at (x,y) to an unit impulse applied at (u,v). The presence of additive noise in the preceding input-output model of a...space model developed works very effi- ciently to deblur images affected by 2-D linear shift- varying blurs, its use, in presence of noise needs to be...causal linear shift-variant (LSV) system, whose impulse res- ponse is a K-th order degenerate sequence, a K-th order state-space model was obtained

  4. A role for coding functional variants in HNF4A in type 2 diabetes susceptibility

    DEFF Research Database (Denmark)

    Jafar-Mohammadi, B; Groves, C J; Gjesing, A P

    2011-01-01

    Rare mutations in the gene HNF4A, encoding the transcription factor hepatocyte nuclear factor 4α (HNF-4A), account for ~5% of cases of MODY and more frequent variants in this gene may be involved in multifactorial forms of diabetes. Two low-frequency, non-synonymous variants in HNF4A (V255M, minor...... allele frequency [MAF] ~0.1%; T130I, MAF ~3.0%)-known to influence downstream HNF-4A target gene expression-are of interest, but previous type 2 diabetes association reports were inconclusive. We aimed to evaluate the contribution of these variants to type 2 diabetes susceptibility through large...

  5. Influence de la gestion et du statut socio-économique de l'agro-pasteur sur la productivité des ovins et des caprins au Mali central

    Directory of Open Access Journals (Sweden)

    Killanga, S.

    1999-01-01

    Full Text Available The Influence of the Management and the Socio-Economie Status of the Agropastor on the Productivity of Sheep and Goats in Central Mali. A study of causes responsible of productivity differences between sheep and goats flocks in a central Malian village belonging to an agropastoral subsystem associated to a rainfed millet culture was carried out from July 1987 to March 1988. Management factors, socio-economic characteristics of agropastors and sheep and goats productivity parameters were simultaneously followed up and analysed. The results have shown that both sheep and goats were not managed in the same manner and that the observed causes of productivity differences between flocks are related to the agropastor's personnal production means, to his methods of management of animals, to his apprentice ship of the stock breeder profession and to the detention of other animal species.

  6. Polymorphic variants of neurotransmitter receptor genes may affect sexual function in aging males: data from the HALS study.

    Science.gov (United States)

    Jóźków, Paweł; Słowińska-Lisowska, Małgorzata; Łaczmański, Łukasz; Mędraś, Marek

    2013-01-01

    Human behavior is influenced by a number of brain neurotransmitters. Central dopamine, serotonin and melanocortin systems have special importance for male sexual function. We searched for associations between male aging symptoms and polymorphic sites of serotonin (5-HTR1B), melanocortin (MC4R) and dopamine (DRD2, DRD4) receptors. In a population-based sample, genotyping of 5-HTR1B (polymorphism: G861C), MC4R (polymorphisms: C-2745T, Val103Ile), DRD2 (polymorphism: C313T) and DRD4 (polymorphism: 48-bp VNTR) was performed in 387 healthy men. The Aging Males' Symptoms (AMS) scale was used to evaluate specific ailments of aging men. We analyzed answers to questions from the AMS scale. Five points of the questionnaire addressed sexual symptoms of the aging male: feeling of passing one's peak, decrease in beard growth, decrease in ability/frequency to perform sexually, decrease in the number of morning erections, and decrease in sexual desire/libido (lacking pleasure in sex, lacking desire for sexual intercourse). Relations between reported symptoms and variants of the polymorphic sites of the studied genes were assessed. After adjusting for confounding factors (education, arterial hypertension, physical activity, weight, waist circumference) an association between the sexual dimension of AMS and genetic variants of 5-HTR1B G861C (p = 0.04) was observed. Variability of neurotransmitter receptor genes may be associated with sexual symptoms of aging in men. Copyright © 2013 S. Karger AG, Basel.

  7. Depth profiles of 230Th excess, transition metals and mineralogy of ferromanganese crusts of the Central Indian Ocean basin and implications for palaeoceanographic influence on crust genesis

    Digital Repository Service at National Institute of Oceanography (India)

    Banakar, V.K.; Borole, D.V.

    any pdstdeposi- tional redistribution over the dating interval (Krishnaswami and Cochran, 1978). The re- lationship used for growth rates estimation is: d In C/dz= -I/S where C= concentration of radionuclide; A=decay constant of the nuclide; s.... Ferromanganese de- posits from the central Pacific Ocean, I. Encrustations from the Line Island archipelago. Geochim. Cosmo- chim. Acta, 49: 427-436. Banakar, V.K., 1988. Chemical, radioisotopic and geo- chronological studies of polymetallic nodules...

  8. Central melanin-concentrating hormone influences liver and adipose metabolism via specific hypothalamic nuclei and efferent autonomic/JNK1 pathways.

    OpenAIRE

    Imbernon, Monica; Beiroa, Daniel; Vázquez, María J.; Morgan, Donald A.; Veyrat–Durebex, Christelle; Porteiro, Begoña; Díaz–Arteaga, Adenis; Senra, Ana; Busquets, Silvia; Velásquez, Douglas A.; Al–Massadi, Omar; Varela, Luis; Gándara, Marina; López–Soriano, Francisco–Javier; Gallego, Rosalía

    2013-01-01

    BACKGROUND AIMS Specific neuronal circuits modulate autonomic outflow to liver and white adipose tissue. Melanin concentrating hormone (MCH) deficient mice are hypophagic lean and do not develop hepatosteatosis when fed a high fat diet. Herein we sought to investigate the role of MCH an orexigenic neuropeptide specifically expressed in the lateral hypothalamic area on hepatic and adipocyte metabolism. METHODS Chronic central administration of MCH and adenoviral vectors increasing MCH sign...

  9. Optimal management and productivity of Eucalyptus grandis on former phosphate mined and citrus lands in central and southern Florida: influence of genetics and spacing

    Science.gov (United States)

    Kyle W. Fabbro; Donald L. Rockwood

    2016-01-01

    Eucalyptus short rotation woody crops (SRWC) with superior genotypes are promising in central and south Florida due to their fast growth, freeze resilience, coppicing ability, and site tolerance. Four Eucalyptus grandis cultivars, E.nergy™ G1, G2, G3, and/or G5, were established in 2009 at varying planting densities on a...

  10. Probability estimates of heavy precipitation events in a flood-prone central-European region with enhanced influence of Mediterranean cyclones

    Czech Academy of Sciences Publication Activity Database

    Kyselý, Jan; Picek, J.

    2007-01-01

    Roč. 12, - (2007), s. 43-50 ISSN 1680-7340 R&D Projects: GA AV ČR KJB300420601 Institutional research plan: CEZ:AV0Z30420517 Keywords : extreme precipitation event * region al frequency analysis * Generalized Extreme Value distribution * Generalized Logistic distribution * central Europe * Czech Republic Subject RIV: DG - Athmosphere Sciences, Meteorology www.adv-geosci.net/12/43/2007/

  11. Origins and spreads of Alpha 1 antitrypsin variants in world human ...

    African Journals Online (AJOL)

    spread throughout the Europeans countries and the Iberian Peninsula settlements and .... The Indian populations of South America were characterized by the high presence of PIM3 ... In our work, investigating AAT variants distribution in a population from central ..... perspective on research, diagnosis, and management.

  12. Distribution and medical impact of loss-of-function variants in the Finnish founder population.

    Directory of Open Access Journals (Sweden)

    Elaine T Lim

    2014-07-01

    Full Text Available Exome sequencing studies in complex diseases are challenged by the allelic heterogeneity, large number and modest effect sizes of associated variants on disease risk and the presence of large numbers of neutral variants, even in phenotypically relevant genes. Isolated populations with recent bottlenecks offer advantages for studying rare variants in complex diseases as they have deleterious variants that are present at higher frequencies as well as a substantial reduction in rare neutral variation. To explore the potential of the Finnish founder population for studying low-frequency (0.5-5% variants in complex diseases, we compared exome sequence data on 3,000 Finns to the same number of non-Finnish Europeans and discovered that, despite having fewer variable sites overall, the average Finn has more low-frequency loss-of-function variants and complete gene knockouts. We then used several well-characterized Finnish population cohorts to study the phenotypic effects of 83 enriched loss-of-function variants across 60 phenotypes in 36,262 Finns. Using a deep set of quantitative traits collected on these cohorts, we show 5 associations (p<5×10⁻⁸ including splice variants in LPA that lowered plasma lipoprotein(a levels (P = 1.5×10⁻¹¹⁷. Through accessing the national medical records of these participants, we evaluate the LPA finding via Mendelian randomization and confirm that these splice variants confer protection from cardiovascular disease (OR = 0.84, P = 3×10⁻⁴, demonstrating for the first time the correlation between very low levels of LPA in humans with potential therapeutic implications for cardiovascular diseases. More generally, this study articulates substantial advantages for studying the role of rare variation in complex phenotypes in founder populations like the Finns and by combining a unique population genetic history with data from large population cohorts and centralized research access to National Health

  13. Genetic variants of methyl metabolizing enzymes and epigenetic regulators: Associations with promoter CpG island hypermethylation in colorectal cancer

    NARCIS (Netherlands)

    Vogel, S. de; Wouters, K.A.D.; Gottschalk, R.W.H.; Schooten, F.J. van; Goeij, A.F.P.M. de; Bruïne, A.P. de; Goldbohm, R.A.; Brandt, P.A. van den; Weijenberg, M.P.; Engeland, M. van

    2009-01-01

    Aberrant DNA methylation affects carcinogenesis of colorectal cancer. Folate metabolizing enzymes may influence the bioavailability of methyl groups, whereas DNA and histone methyltransferases are involved in epigenetic regulation of gene expression. We studied associations of genetic variants of

  14. Central Bank independence

    Directory of Open Access Journals (Sweden)

    Vasile DEDU

    2012-08-01

    Full Text Available In this paper we present the key aspects regarding central bank’s independence. Most economists consider that the factor which positively influences the efficiency of monetary policy measures is the high independence of the central bank. We determined that the National Bank of Romania (NBR has a high degree of independence. NBR has both goal and instrument independence. We also consider that the hike of NBR’s independence played an important role in the significant disinflation process, as headline inflation dropped inside the targeted band of 3% ± 1 percentage point recently.

  15. Relations of mitochondrial genetic variants to measures of vascular function.

    Science.gov (United States)

    Fetterman, Jessica L; Liu, Chunyu; Mitchell, Gary F; Vasan, Ramachandran S; Benjamin, Emelia J; Vita, Joseph A; Hamburg, Naomi M; Levy, Daniel

    2018-05-01

    Mitochondrial genetic variation with resultant alterations in oxidative phosphorylation may influence vascular function and contribute to cardiovascular disease susceptibility. We assessed relations of peptide-encoding variants in the mitochondrial genome with measures of vascular function in Framingham Heart Study participants. Of 258 variants assessed, 40 were predicted to have functional consequences by bioinformatics programs. A maternal pattern of heritability was estimated to contribute to the variability of aortic stiffness. A putative association with a microvascular function measure was identified that requires replication. The methods we have developed can be applied to assess the relations of mitochondrial genetic variation to other phenotypes. Copyright © 2017 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

  16. THE INFLUENCE OF E.U. INTEGRATION ON THE OVERALL DEVELOPMENT IN THE REGIONS NORTH-EAST OF ROMANIA, SUBCARPATHIA OF POLAND AND CENTRAL SLOVAKIA

    Directory of Open Access Journals (Sweden)

    Adrian Liviu SCUTARIU

    2013-06-01

    Full Text Available The existence of some notable development differences in EU at interstate and interregional level imposed the elaboration of a regional development policy aimed at reducing such disparities. The financial assistance provided by the EU is to help the underdeveloped regions. In this article we highlight the overall level of development and its evolution in Romania, Poland and Slovakia, at regional level, in the context of EU accession. Our attention will be focused on the North-East region of Romania, achieving a comparative analysis with two other similar regions from Poland and Slovakia: Subcarpathia and Central Slovakia, respectively.

  17. Central melanin-concentrating hormone influences liver and adipose metabolism via specific hypothalamic nuclei and efferent autonomic/JNK1 pathways.

    Science.gov (United States)

    Imbernon, Monica; Beiroa, Daniel; Vázquez, María J; Morgan, Donald A; Veyrat-Durebex, Christelle; Porteiro, Begoña; Díaz-Arteaga, Adenis; Senra, Ana; Busquets, Silvia; Velásquez, Douglas A; Al-Massadi, Omar; Varela, Luis; Gándara, Marina; López-Soriano, Francisco-Javier; Gallego, Rosalía; Seoane, Luisa M; Argiles, Josep M; López, Miguel; Davis, Roger J; Sabio, Guadalupe; Rohner-Jeanrenaud, Françoise; Rahmouni, Kamal; Dieguez, Carlos; Nogueiras, Ruben

    2013-03-01

    Specific neuronal circuits modulate autonomic outflow to liver and white adipose tissue. Melanin-concentrating hormone (MCH)-deficient mice are hypophagic, lean, and do not develop hepatosteatosis when fed a high-fat diet. Herein, we sought to investigate the role of MCH, an orexigenic neuropeptide specifically expressed in the lateral hypothalamic area, on hepatic and adipocyte metabolism. Chronic central administration of MCH and adenoviral vectors increasing MCH signaling were performed in rats and mice. Vagal denervation was performed to assess its effect on liver metabolism. The peripheral effects on lipid metabolism were assessed by real-time polymerase chain reaction and Western blot. We showed that the activation of MCH receptors promotes nonalcoholic fatty liver disease through the parasympathetic nervous system, whereas it increases fat deposition in white adipose tissue via the suppression of sympathetic traffic. These metabolic actions are independent of parallel changes in food intake and energy expenditure. In the liver, MCH triggers lipid accumulation and lipid uptake, with c-Jun N-terminal kinase being an essential player, whereas in adipocytes MCH induces metabolic pathways that promote lipid storage and decreases lipid mobilization. Genetic activation of MCH receptors or infusion of MCH specifically in the lateral hypothalamic area modulated hepatic lipid metabolism, whereas the specific activation of this receptor in the arcuate nucleus affected adipocyte metabolism. Our findings show that central MCH directly controls hepatic and adipocyte metabolism through different pathways. Copyright © 2013 AGA Institute. Published by Elsevier Inc. All rights reserved.

  18. THE ROLE OF THE SPEECH THERAPIST AND HIS INFLUENCE IN SPEECH DEVELOPMENT OF CHILDREN WITH CENTRAL DEFECTS AND INSTRUCTIVE AND ADVISORY WORK OF THE PARENT

    Directory of Open Access Journals (Sweden)

    Violeta TORTEVSKA

    1997-06-01

    Full Text Available The modern way of living in which the communication becomes a basic and upbringing factor and regulator of the relations isolates children with hard individual, family, educative and social problems.The speech and language disorders are the most remarkable symptoms pointing out the complex of defects in the communicative activities, reduced cognitive functions and cerebral dysfunction's.The modern conception in the rehabilitation field leads to a full engagement of the children’s closest environment and especially parents.The study will include the work of the speech therapist with children with a diagnosis tardy speech development (alalia and developing dysphasia in the hearing, speech and voice rehabilitation institute-Skopje, and its role introducing the parents for their right access and the systematic conduction of the rehabilitation proceedings-especially stimulating the motors and speech development.The speech therapist’s task is to find out a way and to apply means by which the children with central damages could build their speech and lingual system and to help the parents through instructive and advisory work into the comprehension of the phases and stages of that system.The conclusion is that the proceedings of the early treatment with the children with central damages are naturally caused by the difference of their early supplementation. The suggestions that are referring to what should be substituted, how much it should be substituted and how it should be done leads to the frames of the early therapeutical access.

  19. Developing consistent pronunciation models for phonemic variants

    CSIR Research Space (South Africa)

    Davel, M

    2006-09-01

    Full Text Available Pronunciation lexicons often contain pronunciation variants. This can create two problems: It can be difficult to define these variants in an internally consistent way and it can also be difficult to extract generalised grapheme-to-phoneme rule sets...

  20. Semantic prioritization of novel causative genomic variants

    KAUST Repository

    Boudellioua, Imene

    2017-04-17

    Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today. Computational approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction networks, or phenotypes. Here, we demonstrate the PhenomeNET Variant Predictor (PVP) system that exploits semantic technologies and automated reasoning over genotype-phenotype relations to filter and prioritize variants in whole exome and whole genome sequencing datasets. We demonstrate the performance of PVP in identifying causative variants on a large number of synthetic whole exome and whole genome sequences, covering a wide range of diseases and syndromes. In a retrospective study, we further illustrate the application of PVP for the interpretation of whole exome sequencing data in patients suffering from congenital hypothyroidism. We find that PVP accurately identifies causative variants in whole exome and whole genome sequencing datasets and provides a powerful resource for the discovery of causal variants.

  1. Semantic prioritization of novel causative genomic variants

    KAUST Repository

    Boudellioua, Imene; Mohamad Razali, Rozaimi; Kulmanov, Maxat; Hashish, Yasmeen; Bajic, Vladimir B.; Goncalves-Serra, Eva; Schoenmakers, Nadia; Gkoutos, Georgios V.; Schofield, Paul N.; Hoehndorf, Robert

    2017-01-01

    Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today. Computational approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction networks, or phenotypes. Here, we demonstrate the PhenomeNET Variant Predictor (PVP) system that exploits semantic technologies and automated reasoning over genotype-phenotype relations to filter and prioritize variants in whole exome and whole genome sequencing datasets. We demonstrate the performance of PVP in identifying causative variants on a large number of synthetic whole exome and whole genome sequences, covering a wide range of diseases and syndromes. In a retrospective study, we further illustrate the application of PVP for the interpretation of whole exome sequencing data in patients suffering from congenital hypothyroidism. We find that PVP accurately identifies causative variants in whole exome and whole genome sequencing datasets and provides a powerful resource for the discovery of causal variants.

  2. Fundamental Characteristics of Industrial Variant Specification Systems

    DEFF Research Database (Denmark)

    Hansen, Benjamin Loer; Hvam, Lars

    2004-01-01

    fundamental concepts related to this task, which are relevant to understand for academia and practitioners working with the subject. This is done through a description of variant specification tasks and typical aspects of system solutions. To support the description of variant specification tasks and systems...

  3. Characterization of form variants of Xenorhabdus luminescens.

    NARCIS (Netherlands)

    Gerritsen, L.J.M.; Raay, de G.; Smits, P.H.

    1992-01-01

    From Xenorhabdus luminescens XE-87.3 four variants were isolated. One, which produced a red pigment and antibiotics, was luminescent, and could take up dye from culture media, was considered the primary form (XE-red). A pink-pigmented variant (XE-pink) differed from the primary form only in

  4. CLEVER: Clique-Enumerating Variant Finder

    NARCIS (Netherlands)

    Marschall, T.; Costa, I.; Canzar, S.; bauer, m; Klau, G.W.; Schliep, A.; Schönhuth, A.

    2012-01-01

    Motivation: Next-generation sequencing techniques have facilitated a large-scale analysis of human genetic variation. Despite the advances in sequencing speed, the computational discovery of structural variants is not yet standard. It is likely that many variants have remained undiscovered in most

  5. Listeners' processing of a given reduced word pronunciation variant directly reflects their exposure to this variant: Evidence from native listeners and learners of French.

    Science.gov (United States)

    Brand, Sophie; Ernestus, Mirjam

    2018-05-01

    In casual conversations, words often lack segments. This study investigates whether listeners rely on their experience with reduced word pronunciation variants during the processing of single segment reduction. We tested three groups of listeners in a lexical decision experiment with French words produced either with or without word-medial schwa (e.g., /ʀvy/ and /ʀvy/ for revue). Participants also rated the relative frequencies of the two pronunciation variants of the words. If the recognition accuracy and reaction times (RTs) for a given listener group correlate best with the frequencies of occurrence holding for that given listener group, recognition is influenced by listeners' exposure to these variants. Native listeners' relative frequency ratings correlated well with their accuracy scores and RTs. Dutch advanced learners' accuracy scores and RTs were best predicted by their own ratings. In contrast, the accuracy and RTs from Dutch beginner learners of French could not be predicted by any relative frequency rating; the rating task was probably too difficult for them. The participant groups showed behaviour reflecting their difference in experience with the pronunciation variants. Our results strongly suggest that listeners store the frequencies of occurrence of pronunciation variants, and consequently the variants themselves.

  6. Plant-expressed cocaine hydrolase variants of butyrylcholinesterase exhibit altered allosteric effects of cholinesterase activity and increased inhibitor sensitivity

    OpenAIRE

    Larrimore, Katherine E.; Kazan, I. Can; Kannan, Latha; Kendle, R. Player; Jamal, Tameem; Barcus, Matthew; Bolia, Ashini; Brimijoin, Stephen; Zhan, Chang-Guo; Ozkan, S. Banu; Mor, Tsafrir S.

    2017-01-01

    Butyrylcholinesterase (BChE) is an enzyme with broad substrate and ligand specificities and may function as a generalized bioscavenger by binding and/or hydrolyzing various xenobiotic agents and toxicants, many of which target the central and peripheral nervous systems. Variants of BChE were rationally designed to increase the enzyme?s ability to hydrolyze the psychoactive enantiomer of cocaine. These variants were cloned, and then expressed using the magnICON transient expression system in p...

  7. Variant Review with the Integrative Genomics Viewer.

    Science.gov (United States)

    Robinson, James T; Thorvaldsdóttir, Helga; Wenger, Aaron M; Zehir, Ahmet; Mesirov, Jill P

    2017-11-01

    Manual review of aligned reads for confirmation and interpretation of variant calls is an important step in many variant calling pipelines for next-generation sequencing (NGS) data. Visual inspection can greatly increase the confidence in calls, reduce the risk of false positives, and help characterize complex events. The Integrative Genomics Viewer (IGV) was one of the first tools to provide NGS data visualization, and it currently provides a rich set of tools for inspection, validation, and interpretation of NGS datasets, as well as other types of genomic data. Here, we present a short overview of IGV's variant review features for both single-nucleotide variants and structural variants, with examples from both cancer and germline datasets. IGV is freely available at https://www.igv.org Cancer Res; 77(21); e31-34. ©2017 AACR . ©2017 American Association for Cancer Research.

  8. Local binary patterns new variants and applications

    CERN Document Server

    Jain, Lakhmi; Nanni, Loris; Lumini, Alessandra

    2014-01-01

    This book introduces Local Binary Patterns (LBP), arguably one of the most powerful texture descriptors, and LBP variants. This volume provides the latest reviews of the literature and a presentation of some of the best LBP variants by researchers at the forefront of textual analysis research and research on LBP descriptors and variants. The value of LBP variants is illustrated with reported experiments using many databases representing a diversity of computer vision applications in medicine, biometrics, and other areas. There is also a chapter that provides an excellent theoretical foundation for texture analysis and LBP in particular. A special section focuses on LBP and LBP variants in the area of face recognition, including thermal face recognition. This book will be of value to anyone already in the field as well as to those interested in learning more about this powerful family of texture descriptors.

  9. Congenital anomalies and normal skeletal variants

    International Nuclear Information System (INIS)

    Guebert, G.M.; Yochum, T.R.; Rowe, L.J.

    1987-01-01

    Congenital anomalies and normal skeletal variants are a common occurrence in clinical practice. In this chapter a large number of skeletal anomalies of the spine and pelvis are reviewed. Some of the more common skeletal anomalies of the extremities are also presented. The second section of this chapter deals with normal skeletal variants. Some of these variants may simulate certain disease processes. In some instances there are no clear-cut distinctions between skeletal variants and anomalies; therefore, there may be some overlap of material. The congenital anomalies are presented initially with accompanying text, photos, and references, beginning with the skull and proceeding caudally through the spine to then include the pelvis and extremities. The normal skeletal variants section is presented in an anatomical atlas format without text or references

  10. The influence of μ-opioid and noradrenaline reuptake inhibition in the modulation of pain responsive neurones in the central amygdala by tapentadol in rats with neuropathy

    Science.gov (United States)

    Gonçalves, Leonor; Friend, Lauren V.; Dickenson, Anthony H.

    2015-01-01

    Treatments for neuropathic pain are either not fully effective or have problematic side effects. Combinations of drugs are often used. Tapentadol is a newer molecule that produces analgesia in various pain models through two inhibitory mechanisms, namely central μ-opioid receptor (MOR) agonism and noradrenaline reuptake inhibition. These two components interact synergistically, resulting in levels of analgesia similar to opioid analgesics such as oxycodone and morphine, but with more tolerable side effects. The right central nucleus of the amygdala (CeA) is critical for the lateral spinal ascending pain pathway, regulates descending pain pathways and is key in the emotional-affective components of pain. Few studies have investigated the pharmacology of limbic brain areas in pain models. Here we determined the actions of systemic tapentadol on right CeA neurones of animals with neuropathy and which component of tapentadol contributes to its effect. Neuronal responses to multimodal peripheral stimulation of animals with spinal nerve ligation or sham surgery were recorded before and after two doses of tapentadol. After the higher dose of tapentadol either naloxone or yohimbine were administered. Systemic tapentadol resulted in dose-dependent decrease in right CeA neuronal activity only in neuropathy. Both naloxone and yohimbine reversed this effect to an extent that was modality selective. The interactions of the components of tapentadol are not limited to the synergy between the MOR and α2-adrenoceptors seen at spinal levels, but are seen at this supraspinal site where suppression of responses may relate to the ability of the drug to alter affective components of pain. PMID:25576174

  11. Central Chile

    Science.gov (United States)

    2002-01-01

    The beginning of spring in central Chile looked like this to SeaWiFS. The snow-covered Andes mark the country's eastern border, and phytoplankton blooms and river sediment plumes fill the waters off its west coast. A large eddy due west of Concepcion is highlighted by the phytoplankton it contains.

  12. Afrique Centrale

    African Journals Online (AJOL)

    PR BOKO

    (Afrique Centrale) : peuplement de protozoaires ciliés et macro invertébrés ... Le lac d'Obili est un écosystème aquatique situé en plein cœur de Yaoundé en ...... électrique des eaux est assez stable, autour de 200 ; ce qui suppose que la ...

  13. Identification of POMC exonic variants associated with substance dependence and body mass index.

    Directory of Open Access Journals (Sweden)

    Fan Wang

    Full Text Available Risk of substance dependence (SD and obesity has been linked to the function of melanocortin peptides encoded by the proopiomelanocortin gene (POMC.POMC exons were Sanger sequenced in 280 African Americans (AAs and 308 European Americans (EAs. Among them, 311 (167 AAs and 114 EAs were affected with substance (alcohol, cocaine, opioid and/or marijuana dependence and 277 (113 AAs and164 EAs were screened controls. We identified 23 variants, including two common polymorphisms (rs10654394 and rs1042571 and 21 rare variants; 12 of which were novel. We used logistic regression to analyze the association between the two common variants and SD or body mass index (BMI, with sex, age, and ancestry proportion as covariates. The common variant rs1042571 in the 3'UTR was significantly associated with BMI in EAs (Overweight: P(adj = 0.005; Obese: P(adj = 0.018; Overweight+Obese: P(adj = 0.002 but not in AAs. The common variant, rs10654394, was not associated with BMI and neither common variant was associated with SD in either population. To evaluate the association between the rare variants and SD or BMI, we collapsed rare variants and tested their prevalence using Fisher's exact test. In AAs, rare variants were nominally associated with SD overall and with specific SD traits (SD: P(FET,1df = 0.026; alcohol dependence: P(FET,1df = 0.027; cocaine dependence: P(FET,1df = 0.007; marijuana dependence: P(FET,1df = 0.050 (the P-value from cocaine dependence analysis survived Bonferroni correction. There was no such effect in EAs. Although the frequency of the rare variants did not differ significantly between the normal-weight group and the overweight or obese group in either population, certain rare exonic variants occurred only in overweight or obese subjects without SD.These findings suggest that POMC exonic variants may influence risk for both SD and elevated BMI, in a population-specific manner. However, common and rare variants in this gene may exert

  14. Modeling disease risk through analysis of physical interactions between genetic variants within chromatin regulatory circuitry.

    Science.gov (United States)

    Corradin, Olivia; Cohen, Andrea J; Luppino, Jennifer M; Bayles, Ian M; Schumacher, Fredrick R; Scacheri, Peter C

    2016-11-01

    SNPs associated with disease susceptibility often reside in enhancer clusters, or super-enhancers. Constituents of these enhancer clusters cooperate to regulate target genes and often extend beyond the linkage disequilibrium (LD) blocks containing risk SNPs identified in genome-wide association studies (GWAS). We identified 'outside variants', defined as SNPs in weak LD with GWAS risk SNPs that physically interact with risk SNPs as part of a target gene's regulatory circuitry. These outside variants further explain variation in target gene expression beyond that explained by GWAS-associated SNPs. Additionally, the clinical risk associated with GWAS SNPs is considerably modified by the genotype of outside variants. Collectively, these findings suggest a potential model in which outside variants and GWAS SNPs that physically interact in 3D chromatin collude to influence target transcript levels as well as clinical risk. This model offers an additional hypothesis for the source of missing heritability for complex traits.

  15. Functional genetic variants in the vesicular monoamine transporter 1 (VMAT1) modulate emotion processing

    Science.gov (United States)

    Lohoff, Falk W.; Hodge, Rachel; Narasimhan, Sneha; Nall, Aleksandra; Ferraro, Thomas N.; Mickey, Brian J.; Heitzeg, Mary M.; Langenecker, Scott A.; Zubieta, Jon-Kar; Bogdan, Ryan; Nikolova, Yuliya S.; Drabant, Emily; Hariri, Ahmad R.; Bevilacqua, Laura; Goldman, David; Doyle, Glenn A.

    2012-01-01

    SUMMARY Emotional behavior is in part heritable and often disrupted in psychopathology. Identification of specific genetic variants that drive this heritability may provide important new insight into molecular and neurobiological mechanisms involved in emotionality. Our results demonstrate that the presynaptic vesicular monoamine transporter 1 (VMAT1) Thr136Ile (rs1390938) polymorphism is functional in vitro, with the Ile allele leading to increased monoamine transport into presynaptic vesicles. Moreover, we show that the Thr136Ile variant predicts differential responses in emotional brain circuits consistent with its effects in vitro. Lastly, deep sequencing of bipolar disorder (BPD) patients and controls identified several rare novel VMAT1 variants. The variant Phe84Ser was only present in individuals with BPD and leads to marked increase monoamine transport in vitro. Taken together, our data show that VMAT1 polymorphisms influence monoamine signaling, the functional response of emotional brain circuits, and risk for psychopathology. PMID:23337945

  16. Locus Reference Genomic sequences: An improved basis for describing human DNA variants

    KAUST Repository

    Dalgleish, Raymond; Flicek, Paul; Cunningham, Fiona; Astashyn, Alex; Tully, Raymond E; Proctor, Glenn; Chen, Yuan; McLaren, William M; Larsson, Pontus; Vaughan, Brendan W; Bé roud, Christophe; Dobson, Glen; Lehvä slaiho, Heikki; Taschner, Peter EM; den Dunnen, Johan T; Devereau, Andrew; Birney, Ewan; Brookes, Anthony J; Maglott, Donna R

    2010-01-01

    As our knowledge of the complexity of gene architecture grows, and we increase our understanding of the subtleties of gene expression, the process of accurately describing disease-causing gene variants has become increasingly problematic. In part, this is due to current reference DNA sequence formats that do not fully meet present needs. Here we present the Locus Reference Genomic (LRG) sequence format, which has been designed for the specifi c purpose of gene variant reporting. The format builds on the successful National Center for Biotechnology Information (NCBI) RefSeqGene project and provides a single-fi le record containing a uniquely stable reference DNA sequence along with all relevant transcript and protein sequences essential to the description of gene variants. In principle, LRGs can be created for any organism, not just human. In addition, we recognize the need to respect legacy numbering systems for exons and amino acids and the LRG format takes account of these. We hope that widespread adoption of LRGs - which will be created and maintained by the NCBI and the European Bioinformatics Institute (EBI) - along with consistent use of the Human Genome Variation Society (HGVS)- approved variant nomenclature will reduce errors in the reporting of variants in the literature and improve communication about variants aff ecting human health. Further information can be found on the LRG web site (http://www.lrg-sequence.org). 2010 Dalgleish et al.; licensee BioMed Central Ltd.

  17. Cumulative role of rare and common putative functional genetic variants at NPAS3 in schizophrenia susceptibility.

    Science.gov (United States)

    González-Peñas, Javier; Arrojo, Manuel; Paz, Eduardo; Brenlla, Julio; Páramo, Mario; Costas, Javier

    2015-10-01

    Schizophrenia may be considered a human-specific disorder arisen as a maladaptive by-product of human-specific brain evolution. Therefore, genetic variants involved in susceptibility to schizophrenia may be identified among those genes related to acquisition of human-specific traits. NPAS3, a transcription factor involved in central nervous system development and neurogenesis, seems to be implicated in the evolution of human brain, as it is the human gene with most human-specific accelerated elements (HAEs), i.e., .mammalian conserved regulatory sequences with accelerated evolution in the lineage leading to humans after human-chimpanzee split. We hypothesize that any nucleotide variant at the NPAS3 HAEs may lead to altered susceptibility to schizophrenia. Twenty-one variants at these HAEs detected by the 1000 genomes Project, as well as five additional variants taken from psychiatric genome-wide association studies, were genotyped in 538 schizophrenic patients and 539 controls from Galicia. Analyses at the haplotype level or based on the cumulative role of the variants assuming different susceptibility models did not find any significant association in spite of enough power under several plausible scenarios regarding direction of effect and the specific role of rare and common variants. These results suggest that, contrary to our hypothesis, the special evolution of the NPAS3 HAEs in Homo relaxed the strong constraint on sequence that characterized these regions during mammalian evolution, allowing some sequence changes without any effect on schizophrenia risk. © 2015 Wiley Periodicals, Inc.

  18. Locus Reference Genomic sequences: An improved basis for describing human DNA variants

    KAUST Repository

    Dalgleish, Raymond

    2010-04-15

    As our knowledge of the complexity of gene architecture grows, and we increase our understanding of the subtleties of gene expression, the process of accurately describing disease-causing gene variants has become increasingly problematic. In part, this is due to current reference DNA sequence formats that do not fully meet present needs. Here we present the Locus Reference Genomic (LRG) sequence format, which has been designed for the specifi c purpose of gene variant reporting. The format builds on the successful National Center for Biotechnology Information (NCBI) RefSeqGene project and provides a single-fi le record containing a uniquely stable reference DNA sequence along with all relevant transcript and protein sequences essential to the description of gene variants. In principle, LRGs can be created for any organism, not just human. In addition, we recognize the need to respect legacy numbering systems for exons and amino acids and the LRG format takes account of these. We hope that widespread adoption of LRGs - which will be created and maintained by the NCBI and the European Bioinformatics Institute (EBI) - along with consistent use of the Human Genome Variation Society (HGVS)- approved variant nomenclature will reduce errors in the reporting of variants in the literature and improve communication about variants aff ecting human health. Further information can be found on the LRG web site (http://www.lrg-sequence.org). 2010 Dalgleish et al.; licensee BioMed Central Ltd.

  19. Central nervous system affecting drugs and road traffic accidents ...

    African Journals Online (AJOL)

    Central nervous system affecting drugs and road traffic accidents among commercial motorcyclists. ... including driving under the influence of drugs that affect the central nervous system (CNS). ... Keywords: Brain, influence, riders, substances ...

  20. Stand mid-diameter extraction mid-distances influence in the harvesting costs of Eucalyptus globulus forest system in the Chile central zone

    International Nuclear Information System (INIS)

    Barrios, Alonso; Lopez, Ana M; Nieto, Victor M

    2008-01-01

    A whole tree and in-wood chipping harvesting system was studied by modelling and dynamic simulation. The iThink environment was used to build an application for simulating the operation of the harvesting system, using both deterministic and stochastic models (Isee systems, Inc. 2007). The variables used in this study were the mean diameter at breast height and the mean skidding distance of the stand. In this way, the influence of these variables in the systems cost per cubic meter was determined. This study exhibits a technical approach for establishing more appropriate payment fees, considering that the harvesting costs vary according to the stand characteristics.

  1. Synthesis of spatially variant lattices.

    Science.gov (United States)

    Rumpf, Raymond C; Pazos, Javier

    2012-07-02

    It is often desired to functionally grade and/or spatially vary a periodic structure like a photonic crystal or metamaterial, yet no general method for doing this has been offered in the literature. A straightforward procedure is described here that allows many properties of the lattice to be spatially varied at the same time while producing a final lattice that is still smooth and continuous. Properties include unit cell orientation, lattice spacing, fill fraction, and more. This adds many degrees of freedom to a design such as spatially varying the orientation to exploit directional phenomena. The method is not a coordinate transformation technique so it can more easily produce complicated and arbitrary spatial variance. To demonstrate, the algorithm is used to synthesize a spatially variant self-collimating photonic crystal to flow a Gaussian beam around a 90° bend. The performance of the structure was confirmed through simulation and it showed virtually no scattering around the bend that would have arisen if the lattice had defects or discontinuities.

  2. Different Variants of Fundamental Portfolio

    Directory of Open Access Journals (Sweden)

    Tarczyński Waldemar

    2014-06-01

    Full Text Available The paper proposes the fundamental portfolio of securities. This portfolio is an alternative for the classic Markowitz model, which combines fundamental analysis with portfolio analysis. The method’s main idea is based on the use of the TMAI1 synthetic measure and, in limiting conditions, the use of risk and the portfolio’s rate of return in the objective function. Different variants of fundamental portfolio have been considered under an empirical study. The effectiveness of the proposed solutions has been related to the classic portfolio constructed with the help of the Markowitz model and the WIG20 market index’s rate of return. All portfolios were constructed with data on rates of return for 2005. Their effectiveness in 2006- 2013 was then evaluated. The studied period comprises the end of the bull market, the 2007-2009 crisis, the 2010 bull market and the 2011 crisis. This allows for the evaluation of the solutions’ flexibility in various extreme situations. For the construction of the fundamental portfolio’s objective function and the TMAI, the study made use of financial and economic data on selected indicators retrieved from Notoria Serwis for 2005.

  3. The Influence of a Precursor Central American Gyre and a Northerly Surge into the Gulf of Tehuantepec on the Formation of Hurricane Patricia in October 2015

    Science.gov (United States)

    Bosart, L. F.; Bentley, A. M.; Levine, A. S.; Papin, P. P.

    2016-12-01

    The National Hurricane Center (NHC) initiated advisories on Tropical Depression (TD) Patricia at 1500 UTC 20 October 2015. Patricia originated from a pre-existing area of disturbed weather over the eastern Gulf of Tehuantepec (GoT) subsequent to the formation of a Central American gyre (CAG) and a surge of northerly gap flow across the Isthmus of Tehuantepec (Chivela Pass) and into the GoT. The gap flow was driven by strong low-level height rises over the northern Gulf of Mexico behind a southeastward-moving cold front. Low-level anticyclogenesis over the Gulf of Mexico and the southeastern United States behind the cold front and CAG-related surface pressure falls over Central America contributed to the development of an anomalously strong meridional surface pressure gradient that further sustained the aforementioned gap flow. An elongated strip of cyclonic shear vorticity formed along the eastern margin of the northerly gap flow over the GoT while oceanic heat and moisture fluxes maximized in the core of the strongest flow. Subsequently, this vorticity strip broke down into a cyclonic vortex shortly by 0000 UTC 20 October which prompted the National Hurricane Center to declare that tropical depression (TD) had formed near 13.4°N and 94.0°W by 0600 UTC 20 October. This TD was named tropical storm (TS) Patricia at 0000 UTC 21 October as the developing TS moved over a region of anomalously warm SSTs and high oceanic heat content in the presence of large oceanic heat and moisture fluxes. Northerly gap flow ceased and the CAG circulation broke down as a strengthening TS Patricia in the eastern Pacific crossed the longitude (95°W) of the Chivela Pass, leading to the cessation of northerly gap flow and the onset of strengthening southerly flow. Deep tropical moisture concentrated to the north and east of the now remnant CAG circulation center was advected northwestward into the western Gulf of Mexico where it supported very heavy rainfall in southeastern Texas. This

  4. [Clinical and morphological variants of diverticular disease in colon].

    Science.gov (United States)

    Levchenko, S V; Lazebnik, L B; Potapova, V B; Rogozina, V A

    2013-01-01

    Our own results of two-stage research are presented in the article. The first stage contains the retrospective analysis of 3682 X-ray examining of large bowel which were conducted in 2002-2004 to define the structure of colon disease and to determine gender differences. The second stage is prospective research which took place from 2003 to 2012 and 486 patients with diverticular disease were regularly observed. Following parameters were estimated: dynamics of complaints, life quality, clinical symptoms. Multiple X-ray and endoscopic examining were done with estimation of quantity and size of diverticula, changes of colon mucosa, comparison of X-ray and endoscopic methods in prognosis of complications. Two basic clinical morphological variants of diverticular disease (DD) of colon are made out as a result of our research. There are IBD-like and DD with ischemic component. The variants differ by pain characteristics, presence of accompanying diseases, life quality parameters and description of colon mucosa morphological research. We suppose that different ethiopathogenetic factors of development of both variants mentioned above influence the disease prognosis and selection of treatment.

  5. Ephemeroptera, Plecoptera and Trichoptera assemblages from riffles in mountain streams of Central Brazil: environmental factors influencing the distribution and abundance of immatures

    Directory of Open Access Journals (Sweden)

    P. C. Bispo

    Full Text Available The influence of environmental factors on the distribution of Ephemeroptera, Plecoptera and Trichoptera (EPT immatures was investigated in streams of the Brazilian Center-West (Serra do Pireneus, Pirenópolis, State of Goiás. The insects were sampled by lifting the stones in front of a sieve (0.5 mm mesh and then removing the insects from both the stone and the sieve. Sampling was carried out for 1 h at 5 collection sites over a period of 14 months. Air and water temperature (°C, water velocity (m/s, discharge (m³/s, electric conductivity (µS/cm, pH, and rainfall (mm were also recorded. In general, we may state that altitude, hydrologic classification (order and vegetation cover were the most important factors explaining the distribution of Ephemeroptera, Plecoptera and Trichoptera immatures. The influence of the rainfall on the temporal variation of the abundance of insects was stronger in stream segments of medium order (3rd, 4th order compared to smaller streams (first order.

  6. DETECTION OF LOCAL SITE CONDITIONS INFLUENCING EARTHQUAKE SHOCK AND SECONDARY EFFECTS IN THE VALPARAISO AREA IN CENTRAL-CHILE USING REMOTE SENSING AND GIS METHODS

    Directory of Open Access Journals (Sweden)

    Barbara Theilen-Willige

    2011-01-01

    Full Text Available The potential contribution of remote sensing and GIS techniques to earthquake hazard analysis was investigated in Valparaiso in Chile in order to improve the systematic, standardized inventory of those areas that are more susceptible to earthquake ground motions or to earthquake related secondary effects such as landslides, liquefaction, soil amplifications, compaction or even tsunami-waves. Geophysical, topographical, geological data and satellite images were collected, processed, and integrated into a spatial database using Geoinformation Systems (GIS and image processing techniques. The GIS integrated evaluation of satellite imageries, of digital topographic data and of various open-source geodata can contribute to the acquisition of those specific tectonic, geomorphologic/ topographic settings influencing local site conditions in Valparaiso, Chile. Using the weighted overlay techniques in GIS, susceptibility maps were produced indicating areas, where causal factors influencing near- surface earthquake shock occur aggregated. Causal factors (such as unconsolidated sedimentary layers within a basin’s topography, higher groundwater tables, etc. summarizing and interfering each other, rise the susceptibility of soil amplification and of earthquake related secondary effects. This approach was used as well to create a tsunami flooding susceptibility map. LANDSAT Thermal Band 6-imageries were analysed to get information of surface water currents in this area.

  7. NDVI-Based Analysis on the Influence of Climate Change and Human Activities on Vegetation Restoration in the Shaanxi-Gansu-Ningxia Region, Central China

    Directory of Open Access Journals (Sweden)

    Shuangshuang Li

    2015-08-01

    Full Text Available In recent decades, climate change has affected vegetation growth in terrestrial ecosystems. We investigated spatial and temporal patterns of vegetation cover on the Loess Plateau’s Shaanxi-Gansu-Ningxia region in central China using MODIS-NDVI data for 2000–2014. We examined the roles of regional climate change and human activities in vegetation restoration, particularly from 1999 when conversion of sloping farmland to forestland or grassland began under the national Grain-for-Green program. Our results indicated a general upward trend in average NDVI values in the study area. The region’s annual growth rate greatly exceeded those of the Three-North Shelter Forest, the upper reaches of the Yellow River, the Qinling–Daba Mountains, and the Three-River Headwater region. The green vegetation zone has been annually extending from the southeast toward the northwest, with about 97.4% of the region evidencing an upward trend in vegetation cover. The NDVI trend and fluctuation characteristics indicate the occurrence of vegetation restoration in the study region, with gradual vegetation stabilization associated with 15 years of ecological engineering projects. Under favorable climatic conditions, increasing local vegetation cover is primarily attributable to ecosystem reconstruction projects. However, our findings indicate a growing risk of vegetation degradation in the northern part of Shaanxi Province as a result of energy production facilities and chemical industry infrastructure, and increasing exploitation of mineral resources.

  8. Left atrium volume index is influenced by aortic stiffness and central pulse pressure in type 2 diabetes mellitus patients: a hemodynamic and echocardiographic study.

    Science.gov (United States)

    Zapolski, Tomasz; Wysokiński, Andrzej

    2013-03-04

    Left atrial volume index (LAVI) has recently emerged as a useful biomarker for risk stratification and risk monitoring in many clinical settings. Many hemodynamic factors such as preload and afterload have an effect on evaluating left atrium function. This study was performed to investigate the relationship between LAVI and aortic stiffness index (ASI) and selected markers characterizing hemodynamic state in patients with type 2 diabetes mellitus (DM2). The study population consisted of 100 patients (56 men, 44 women), 67.2 (±10.9) years old DM2, scheduled for routine coronary angiography. Standard transthoracic echocardiography was used to measure parameters needed for calculation of LAVI and ASI. During invasive procedures, central pulse pressure (CPP) in the ascendens aorta and left ventricle end-diastolic pressure (LVEDP) were recorded. Selected laboratory parameters were obtained, including lipidogram, serum uric acid, hs-CRP, fibrinogen, cTnT, myoglobin, BNP, HbA1C, creatinine, and GFR. Both LAVI and ASI were greater and CPP and LVEDP were markedly elevated in DM2 patients compared to controls. The independent predictors of LAVI were ASI (ß=0.331; p=0.011), CPP (ß=0.312; p=0.020), LVEDP (ß=0.381; p=0.006), HbA1C (ß=0.379; p=0.008), and BNP (ß=0,423; pDM2 patients.

  9. Influence of drainage status on soil and water chemistry, litter decomposition and soil respiration in central Amazonian forests on sandy soils

    Directory of Open Access Journals (Sweden)

    Antônio Ocimar Manzi

    2011-04-01

    Full Text Available Central Amazonian rainforest landscape supports a mosaic of tall terra firme rainforest and ecotone campinarana, riparian and campina forests, reflecting topography-induced variations in soil, nutrient and drainage conditions. Spatial and temporal variations in litter decomposition, soil and groundwater chemistry and soil CO2 respiration were studied in forests on sandy soils, whereas drought sensitivity of poorly-drained valley soils was investigated in an artificial drainage experiment. Slightly changes in litter decomposition or water chemistry were observed as a consequence of artificial drainage. Riparian plots did experience higher litter decomposition rates than campina forest. In response to a permanent lowering of the groundwater level from 0.1 m to 0.3 m depth in the drainage plot, topsoil carbon and nitrogen contents decreased substantially. Soil CO2 respiration decreased from 3.7±0.6 µmol m-2 s-1 before drainage to 2.5±0.2 and 0.8±0.1 µmol m-2 s-1 eight and 11 months after drainage, respectively. Soil respiration in the control plot remained constant at 3.7±0.6 µmol m-2 s-1. The above suggests that more frequent droughts may affect topsoil carbon and nitrogen content and soil respiration rates in the riparian ecosystem, and may induce a transition to less diverse campinarana or short-statured campina forest that covers areas with strongly-leached sandy soil.

  10. Inter-instrument agreement and influence of central corneal thickness on measurements with Goldmann, pneumotonometer and noncontact tonometer in glaucomatous eyes.

    Science.gov (United States)

    Gupta, Viney; Sony, Parul; Agarwal, Harish C; Sihota, Ramanjit; Sharma, Ajay

    2006-12-01

    This study was conducted to compare the intraocular pressure (IOP) measurements by the Goldman applanation tonometer (GAT), non contact tonometer (NCT) and the ocular blood flow (OBF) pneumotonometer in different IOP ranges in glaucomatous eyes. The effect of central corneal thickness (CCT) on IOP measurement in chronic glaucomatous eyes using the three different tonometers was also evaluated. IOP measurements of 130 eyes of primary glaucoma patients were performed using GAT by an ophthalmologist while NCT and OBF-pneumotonometer measurements were performed by an experienced optometrist. The IOP values were compared amongst the three instruments in the three different IOP ranges (0-18 mmHg, > 18 to 25 mmHg, > 25 mmHg). CCT was also measured in all patients. The mean of paired difference between GAT and NCT was 0.9 +/- 3.1 mmHg while that between GAT and OBF-pneumotonometer was 0.3 +/- 3.4 mmHg. The OBF-pneumotonometer and NCT were more affected by corneal thickness (0.41 mmHg and 0.4 mmHg / 10 micro corneal thickness respectively) while GAT was the least affected by corneal thickness (0.3 mmHg / 10 micro corneal thickness) though the difference was not statistically significant ( P =0.42). With appropriate correction for corneal thickness the NCT and OBF-pneumotonometer can be used as reliably as GAT in following up glaucomatous patients.

  11. Inter-instrument agreement and influence of central corneal thickness on measurements with Goldmann, pneumotonometer and noncontact tonometer in glaucomatous eyes

    Directory of Open Access Journals (Sweden)

    Gupta Viney

    2006-01-01

    Full Text Available Purpose: This study was conducted to compare the intraocular pressure (IOP measurements by the Goldman applanation tonometer (GAT, non contact tonometer (NCT and the ocular blood flow (OBF pneumotonometer in different IOP ranges in glaucomatous eyes. The effect of central corneal thickness (CCT on IOP measurement in chronic glaucomatous eyes using the three different tonometers was also evaluated. Materials and Methods: IOP measurements of 130 eyes of primary glaucoma patients were performed using GAT by an ophthalmologist while NCT and OBF-pneumotonometer measurements were performed by an experienced optometrist. The IOP values were compared amongst the three instruments in the three different IOP ranges (0-18 mmHg,> 18 to 25 mmHg, > 25 mmHg. CCT was also measured in all patients. Results: The mean of paired difference between GAT and NCT was 0.9 ± 3.1 mmHg while that between GAT and OBF-pneumotonometer was 0.3 ± 3.4 mmHg. The OBF-pneumotonometer and NCT were more affected by corneal thickness (0.41 mmHg and 0.4 mmHg / 10 µ corneal thickness respectively while GAT was the least affected by corneal thickness (0.3 mmHg / 10 µ corneal thickness though the difference was not statistically significant ( P =0.42. Conclusion: With appropriate correction for corneal thickness the NCT and OBF-pneumotonometer can be used as reliably as GAT in following up glaucomatous patients.

  12. The fractional patterns of polybrominated diphenyl ethers in the soil of the central Tibetan Plateau, China: The influence of soil components

    International Nuclear Information System (INIS)

    Yuan Guoli; Xie Wei; Che Xiaochao; Han Peng; Liu Chen; Wang Genhou

    2012-01-01

    Sixteen soil samples were collected from the central Tibetan Plateau (CTP). The soil concentrations of polybrominated diphenyl ethers (PBDEs) in CTP were analyzed. The detected 42 congeners were divided into light, intermediate and heavy fractions. In addition to the various minerals, other soil properties were also characterized, including the content of soil organic carbon (SOC) and the particle size distribution. The clay content is positively related to the intermediate fraction of the PBDEs and negatively related to the light and heavy fractions. Similar correlations were observed for SOC and the fine-particle fraction (size 2 ) associated with a linear regression indicated that the clays were more highly correlated with the fractional pattern of the PBDEs than with the other properties, such as SOC and the fine-particle fraction. The values of r 2 between clays and three fractions of PBDEs are 0.70, 0.69 and 0.58. Highlights: ► All data about soil and PBDEs were based on field data rather than experiments. ► The intermediate fraction of PBDEs increased with increases in the clay content. ► The clays were more strongly correlated with PBDEs fractional patterns than SOC. - Certain minerals, such as clays, have a greater impact on the adsorption of POPs than SOC in certain areas.

  13. Maternal stress and diet may influence affective behavior and stress-response in offspring via epigenetic regulation of central peptidergic function.

    Science.gov (United States)

    Thorsell, Annika; Nätt, Daniel

    2016-08-01

    It has been shown that maternal stress and malnutrition, or experience of other adverse events, during the perinatal period may alter susceptibility in the adult offspring in a time-of-exposure dependent manner. The mechanism underlying this may be epigenetic in nature. Here, we summarize some recent findings on the effects on gene-regulation following maternal malnutrition, focusing on epigenetic regulation of peptidergic activity. Numerous neuropeptides within the central nervous system are crucial components in regulation of homeostatic energy-balance, as well as affective health (i.e. health events related to affective disorders, psychiatric disorders also referred to as mood disorders). It is becoming evident that expression, and function, of these neuropeptides can be regulated via epigenetic mechanisms during fetal development, thereby contributing to the development of the adult phenotype and, possibly, modulating disease susceptibility. Here, we focus on two such neuropeptides, neuropeptide Y (NPY) and corticotropin-releasing hormone (CRH), both involved in regulation of endocrine function, energy homeostasis, as well as affective health. While a number of published studies indicate the involvement of epigenetic mechanisms in CRH-dependent regulation of the offspring adult phenotype, NPY has been much less studied in this context and needs further work.

  14. Influence of a mini-trampoline rebound exercise program on insulin resistance, lipid profile and central obesity in individuals with type 2 diabetes.

    Science.gov (United States)

    Nuhu, Jibril M; Maharaj, Sonill S

    2018-04-01

    Exercises are important as an adjuvant for managing diabetes but due to fatigue and time constraints, individuals with diabetes may not engage in them. Jumping on a mini-trampoline referred to as rebound exercise is an aerobic activity used for exercise training benefits but only little research is available on its effects in diabetes. The purpose of this study was to determine the effect of mini-trampoline rebound exercise on insulin resistance, lipid profile and central obesity in type 2 diabetics. Sixty non-insulin dependent type 2 diabetics (median age: 39.0 years, median body mass index: 25.2 kg/m2) recruited using convenience sampling were randomized to a rebound exercise group (N.=30) or a control group (N.=30). The control group read health magazines or watched television while the rebound exercise group jumped on a mini-trampoline at moderate intensity for 30 minutes three times per week for 12 weeks. Postrebound exercise, significant improvements in insulin resistance, lipid profile and waist circumference were noted when compared to the control (Ptrampoline rebound exercise is beneficial for individuals with type 2 diabetes and can serve as a useful exercise approach in the management of cardiovascular risk in diabetes.

  15. Ultrasonographic imaging of papillary thyroid carcinoma variants

    Energy Technology Data Exchange (ETDEWEB)

    Shin, Jung Hee [Dept. of Radiology and Center for Imaging Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2017-04-15

    Ultrasonography (US) is routinely used to evaluate thyroid nodules. The US features of papillary thyroid carcinoma (PTC), the most common thyroid malignancy, include hypoechogenicity, spiculated/microlobulated margins, microcalcifications, and a nonparallel orientation. However, many PTC variants have been identified, some of which differ from the classic type of PTC in terms of biological behavior and clinical outcomes. This review describes the US features and clinical implications of the variants of PTC. With the introduction of active surveillance replacing immediate biopsy or surgical treatment of indolent, small PTCs, an understanding of the US characteristics of PTC variants will facilitate the individualized management of patients with PTC.

  16. Europa central

    Directory of Open Access Journals (Sweden)

    Karel BARTOSEK

    2010-02-01

    Full Text Available La investigación francesa continúa interesándose por Europa Central. Desde luego, hay límites a este interés en el ambiente general de mi nueva patria: en la ignorancia, producto del largo desinterés de Francia por este espacio después de la Segunda Guerra Mundial, y en el comportamiento y la reflexión de la clase política y de los medios de comunicación (una anécdota para ilustrar este ambiente: durante la preparación de nuestro coloquio «Refugiados e inmigrantes de Europa Central en el movimiento antifascista y la Resistencia en Francia, 1933-1945», celebrado en París en octubre de 1986, el problema de la definición fue planteado concreta y «prácticamente». ¡Y hubo entonces un historiador eminente, para quién Alemania no formaría parte de Europa Central!.

  17. Genetic Variants Influencing Lipid Levels and Risk of Dyslipidemia ...

    Indian Academy of Sciences (India)

    Navya

    2017-03-24

    Mar 24, 2017 ... (LDL), high-density lipoprotein–cholesterol (HDL), and triglycerides (TG) in. 1900individualsby .... Body mass index (BMI) was calculated asweight (kg) divided by .... gender, BMI, glucose levels, blood pressure).Independent ...

  18. Community acquired pneumonia: genetic variants influencing systemic inflammation.

    Science.gov (United States)

    Ferrer Agüero, J M; Millán, S; Rodríguez de Castro, F; Martín-Loeches, I; Solé Violán, J

    2014-01-01

    The inflammatory response depends on several factors, including pathogenicity and duration of the stimulus, and also on the balance between inflammatory and antiinflammatory response. Several studies have presented evidence of the importance of genetic factors in severe infections. The innate immune response prevents the invasion and spread of pathogens during the first hours after infection. Each of the different processes involved in innate immunity may be affected by genetic polymorphisms, which can result in susceptibility or resistance to infection. The results obtained in the different studies do not irrefutably prove the role or function of a gene in the pathogenesis of respiratory infections. However, they can generate new hypotheses, suggest new candidate genes based on their role in the inflammatory response, and constitute a first step in understanding the underlying genetic factors. Copyright © 2013 Elsevier España, S.L. and SEMICYUC. All rights reserved.

  19. Influence of drift and admixture on population structure of American black bears (Ursus americanus) in the Central Interior Highlands, USA, 50 years after translocation.

    Science.gov (United States)

    Puckett, Emily E; Kristensen, Thea V; Wilton, Clay M; Lyda, Sara B; Noyce, Karen V; Holahan, Paula M; Leslie, David M; Beringer, Jeff; Belant, Jerrold L; White, Don; Eggert, Lori S

    2014-05-01

    Bottlenecks, founder events, and genetic drift often result in decreased genetic diversity and increased population differentiation. These events may follow abundance declines due to natural or anthropogenic perturbations, where translocations may be an effective conservation strategy to increase population size. American black bears (Ursus americanus) were nearly extirpated from the Central Interior Highlands, USA by 1920. In an effort to restore bears, 254 individuals were translocated from Minnesota, USA, and Manitoba, Canada, into the Ouachita and Ozark Mountains from 1958 to 1968. Using 15 microsatellites and mitochondrial haplotypes, we observed contemporary genetic diversity and differentiation between the source and supplemented populations. We inferred four genetic clusters: Source, Ouachitas, Ozarks, and a cluster in Missouri where no individuals were translocated. Coalescent models using approximate Bayesian computation identified an admixture model as having the highest posterior probability (0.942) over models where the translocation was unsuccessful or acted as a founder event. Nuclear genetic diversity was highest in the source (AR = 9.11) and significantly lower in the translocated populations (AR = 7.07-7.34; P = 0.004). The Missouri cluster had the lowest genetic diversity (AR = 5.48) and served as a natural experiment showing the utility of translocations to increase genetic diversity following demographic bottlenecks. Differentiation was greater between the two admixed populations than either compared to the source, suggesting that genetic drift acted strongly over the eight generations since the translocation. The Ouachitas and Missouri were previously hypothesized to be remnant lineages. We observed a pretranslocation remnant signature in Missouri but not in the Ouachitas. Published 2014. This article is a U.S. Government work and is in the public domain in the USA.

  20. The influence of aging on the number of neurons and levels of non-phosporylated neurofilament proteins in the central auditory system of rats

    Directory of Open Access Journals (Sweden)

    Jana eBurianová

    2015-03-01

    Full Text Available In the present study, an unbiased stereological method was used to determine the number of all neurons in Nissl stained sections of the inferior colliculus (IC, medial geniculate body (MGB and auditory cortex (AC in rats (strains Long Evans and Fischer 344 and their changes with aging. In addition, using the optical fractionator and western blot technique, we also evaluated the number of SMI-32-immunoreactive(-ir neurons and levels of non-phosphorylated neurofilament proteins in the IC, MGB, AC, and visual cortex (VC of young and old rats of the two strains. The SMI-32 positive neuronal population comprises about 10% of all neurons in the rat IC, MGB and AC and represents a prevalent population of large neurons with highly myelinated and projecting processes. In both Long Evans and Fischer 344 rats, the total number of neurons in the IC was roughly similar to that in the AC. With aging, we found a rather mild and statistically non-significant decline in the total number of neurons in all three analyzed auditory regions in both rat strains. In contrast to this, the absolute number of SMI-32-ir neurons in both Long Evans and Fischer 344 rats significantly decreased with aging in all the examined structures. The western blot technique also revealed a significant age-related decline in the levels of non-phosphorylated neurofilaments in the auditory brain structures, 30-35%. Our results demonstrate that presbycusis in rats is not likely to be primarily associated with changes in the total number of neurons. On the other hand, the pronounced age-related decline in the number of neurons containing non-phosphorylated neurofilaments as well as their protein levels in the central auditory system may contribute to age-related deterioration of hearing function.

  1. Influence of pre-tectonic carbonate facies architecture on deformation patterns of syntectonic turbidites, an example from the central Mexican fold-thrust belt

    Science.gov (United States)

    Vásquez Serrano, Alberto; Tolson, Gustavo; Fitz Diaz, Elisa; Chávez Cabello, Gabriel

    2018-04-01

    The Mexican fold-thrust belt in central México excellently exposes relatively well preserved syntectonic deposits that overlay rocks with lateral lithostratigraphic changes across the belt. We consider the deformational effects of these changes by investigating the geometry, kinematics and strain distribution within syntectonic turbidites, which are deposited on top of Albian-Cenomanian shallow and deep water carbonate layers. Field observations and detailed structural analysis at different stratigraphic and structural levels of the Late Cretaceous syntectonic formation are compared with the deformation as a function of lithological and structural variations in the underlying carbonate units, to better understand the effect of these lithostratigraphic variations on deformation, kinematics, strain distribution and propagation of deformation. From our kinematic analyses, we conclude that the syntectonic strata are pervasively affected by folding in all areas and that deformation partitioning localized shear zones at the boundaries of this unit, particularly along the contact with massive carbonates. At the boundaries with massive platformal carbonates, the turbidites are strongly deformed by isoclinal folding with a pervasive sub-horizontal axial plane cleavage and 70-60% shortening. In contrast, contacts with thinly-bedded carbonate layers (basinal facies), do not show strain localization, and have horizontal shortening of 50-40% that is accommodated by buckle folds with a less pervasive, steeply dipping cleavage. The mechanical properties variations in the underlying pre-tectonic units as a function of changes in lithostratigraphy fundamentally control the deformation in the overlying syntectonic strata, which is an effect that could be expected to occur in any deformed sedimentary sequence with such variations.

  2. RAGE splicing variants in mammals.

    Science.gov (United States)

    Sterenczak, Katharina Anna; Nolte, Ingo; Murua Escobar, Hugo

    2013-01-01

    The receptor for advanced glycation end products (RAGE) is a multiligand receptor of environmental stressors which plays key roles in pathophysiological processes, including immune/inflammatory disorders, Alzheimer's disease, diabetic arteriosclerosis, tumorigenesis, and metastasis. Besides the full-length RAGE protein in humans nearly 20 natural occurring RAGE splicing variants were described on mRNA and protein level. These naturally occurring isoforms are characterized by either N-terminally or C-terminally truncations and are discussed as possible regulators of the full-length RAGE receptor either by competitive ligand binding or by displacing the full-length protein in the membrane. Accordingly, expression deregulations of the naturally occurring isoforms were supposed to have significant effect on RAGE-mediated disorders. Thereby the soluble C-truncated RAGE isoforms present in plasma and tissues are the mostly focused isoforms in research and clinics. Deregulations of the circulating levels of soluble RAGE forms were reported in several RAGE-associated pathological disorders including for example atherosclerosis, diabetes, renal failure, Alzheimer's disease, and several cancer types. Regarding other mammalian species, the canine RAGE gene showed high similarities to the corresponding human structures indicating RAGE to be evolutionary highly conserved between both species. Similar to humans the canine RAGE showed a complex and extensive splicing activity leading to a manifold pattern of RAGE isoforms. Due to the similarities seen in several canine and human diseases-including cancer-comparative structural and functional analyses allow the development of RAGE and ligand-specific therapeutic approaches beneficial for human and veterinary medicine.

  3. Comparison and evaluation of two exome capture kits and sequencing platforms for variant calling.

    Science.gov (United States)

    Zhang, Guoqiang; Wang, Jianfeng; Yang, Jin; Li, Wenjie; Deng, Yutian; Li, Jing; Huang, Jun; Hu, Songnian; Zhang, Bing

    2015-08-05

    sequencing of platform-specific variants, the accuracy of variant calling by HiSeq 2000 was higher than that of Ion Proton, specifically for the InDel detection. Moreover, the variant calling software also influences the detection of SNPs and, specifically, InDels in Ion Proton exome sequencing.

  4. Isolation of a variant of Candida albicans.

    Science.gov (United States)

    Buckley, H R; Price, M R; Daneo-Moore, L

    1982-01-01

    During the course of Candida albicans antigen production, a variant of this organism was encountered which did not produce hyphae at 37 degrees C. Presented here are some of the characteristics of this variant. It produces hyphae at 25 degrees C on cornmeal agar and synthetic medium plus N-acetylglucosamine and Tween 80. At 37 degrees C, it does not produce hyphae on these media, although C. albicans normally does produce hyphae under these circumstances. In liquid synthetic medium, this variant does not produce hyphae at 37 degrees C. The variant strain was analyzed for DNA, RNA, protein content, and particle size. After 50 to 70 h in balanced exponential-phase growth, particle size distribution was narrow, and there were no differences in the DNA, RNA, or protein content per particle in the two strains. When balanced exponential-phase cultures were brought into stationary phase, both strains contained the same amount of DNA per cell. Images PMID:6752021

  5. Isolation of a variant of Candida albicans.

    Science.gov (United States)

    Buckley, H R; Price, M R; Daneo-Moore, L

    1982-09-01

    During the course of Candida albicans antigen production, a variant of this organism was encountered which did not produce hyphae at 37 degrees C. Presented here are some of the characteristics of this variant. It produces hyphae at 25 degrees C on cornmeal agar and synthetic medium plus N-acetylglucosamine and Tween 80. At 37 degrees C, it does not produce hyphae on these media, although C. albicans normally does produce hyphae under these circumstances. In liquid synthetic medium, this variant does not produce hyphae at 37 degrees C. The variant strain was analyzed for DNA, RNA, protein content, and particle size. After 50 to 70 h in balanced exponential-phase growth, particle size distribution was narrow, and there were no differences in the DNA, RNA, or protein content per particle in the two strains. When balanced exponential-phase cultures were brought into stationary phase, both strains contained the same amount of DNA per cell.

  6. Genetic variants of ghrelin in metabolic disorders.

    Science.gov (United States)

    Ukkola, Olavi

    2011-11-01

    An increasing understanding of the role of genes in the development of obesity may reveal genetic variants that, in combination with conventional risk factors, may help to predict an individual's risk for developing metabolic disorders. Accumulating evidence indicates that ghrelin plays a role in regulating food intake and energy homeostasis and it is a reasonable candidate gene for obesity-related co-morbidities. In cross-sectional studies low total ghrelin concentrations and some genetic polymorphisms of ghrelin have been associated with obesity-associated diseases. The present review highlights many of the important problems in association studies of genetic variants and complex diseases. It is known that population-specific differences in reported associations exist. We therefore conclude that more studies on variants of ghrelin gene are needed to perform in different populations to get deeper understanding on the relationship of ghrelin gene and its variants to obesity. Copyright © 2011 Elsevier Inc. All rights reserved.

  7. Evaluation of common genetic variants identified by GWAS for early onset and morbid obesity in population-based samples

    DEFF Research Database (Denmark)

    den Hoed, M; Luan, J; Langenberg, C

    2013-01-01

    BACKGROUND: Meta-analysis of case-control genome-wide association studies (GWAS) for early onset and morbid obesity identified four variants in/near the PRL, PTER, MAF and NPC1 genes. OBJECTIVE: We aimed to validate association of these variants with obesity-related traits in population-based sam......BACKGROUND: Meta-analysis of case-control genome-wide association studies (GWAS) for early onset and morbid obesity identified four variants in/near the PRL, PTER, MAF and NPC1 genes. OBJECTIVE: We aimed to validate association of these variants with obesity-related traits in population......, these variants, which were identified in a GWAS for early onset and morbid obesity, do not seem to influence obesity-related traits in the general population....

  8. TREM2 Variants in Alzheimer's Disease

    Science.gov (United States)

    Guerreiro, Rita; Wojtas, Aleksandra; Bras, Jose; Carrasquillo, Minerva; Rogaeva, Ekaterina; Majounie, Elisa; Cruchaga, Carlos; Sassi, Celeste; Kauwe, John S.K.; Younkin, Steven; Hazrati, Lilinaz; Collinge, John; Pocock, Jennifer; Lashley, Tammaryn; Williams, Julie; Lambert, Jean-Charles; Amouyel, Philippe; Goate, Alison; Rademakers, Rosa; Morgan, Kevin; Powell, John; St. George-Hyslop, Peter; Singleton, Andrew; Hardy, John

    2013-01-01

    BACKGROUND Homozygous loss-of-function mutations in TREM2, encoding the triggering receptor expressed on myeloid cells 2 protein, have previously been associated with an autosomal recessive form of early-onset dementia. METHODS We used genome, exome, and Sanger sequencing to analyze the genetic variability in TREM2 in a series of 1092 patients with Alzheimer's disease and 1107 controls (the discovery set). We then performed a meta-analysis on imputed data for the TREM2 variant rs75932628 (predicted to cause a R47H substitution) from three genomewide association studies of Alzheimer's disease and tested for the association of the variant with disease. We genotyped the R47H variant in an additional 1887 cases and 4061 controls. We then assayed the expression of TREM2 across different regions of the human brain and identified genes that are differentially expressed in a mouse model of Alzheimer's disease and in control mice. RESULTS We found significantly more variants in exon 2 of TREM2 in patients with Alzheimer's disease than in controls in the discovery set (P = 0.02). There were 22 variant alleles in 1092 patients with Alzheimer's disease and 5 variant alleles in 1107 controls (P<0.001). The most commonly associated variant, rs75932628 (encoding R47H), showed highly significant association with Alzheimer's disease (P<0.001). Meta-analysis of rs75932628 genotypes imputed from genomewide association studies confirmed this association (P = 0.002), as did direct genotyping of an additional series of 1887 patients with Alzheimer's disease and 4061 controls (P<0.001). Trem2 expression differed between control mice and a mouse model of Alzheimer's disease. CONCLUSIONS Heterozygous rare variants in TREM2 are associated with a significant increase in the risk of Alzheimer's disease. (Funded by Alzheimer's Research UK and others.) PMID:23150934

  9. High-Precision, Continuous GPS Data Reveals Seasonal Groundwater Influence on the Deformation of the Salmon Falls Landslide, a Slow-Moving, Rotational Feature in Central Idaho

    Science.gov (United States)

    Lauer, I. H.; Crosby, B. T.

    2017-12-01

    The development of predictive tools for landslide initiation and deformation serve both the natural hazard and geomorphic communities. Founded on both field observations and physical laws, these tools require a mechanistic understanding of the connection between forcing and response. Water has a well-documented influence on slope stability, impacting both soil plasticity and pore water pressure. High precision, high frequency GPS measurements of deformation paired with similar frequency water table measurements enable new insight into the lag and sensitivity present in the coupled hillslope-groundwater system, especially in the rotational domain, which is underrepresented in current literature. Our study explores the influence of groundwater on a slow-moving, deep-seated, rotational slide in southern Idaho using daily, mm precision GPS positions and contemporaneous groundwater levels measurements in adjacent wells, lakes, and streams. Seven semi-permanent GPS stations are spatially distributed across the slide and record three-dimensional velocities up to 11 cm/yr, which compare well with historical measurements from the early 2000's. Water level loggers are located in a rough cross-section through the study area and documents rises in water level during spring 2017 and a subsequent 1.5m drop in the following summer. We hypothesize a correlation of groundwater levels and landslide velocity, which varies seasonally and spatially across the body of the slide. We will present whether deformation is spatially contemporaneous or initiate in one region and propagates down-feature. We will also discuss whether temporal lag exists between water level change and deformation and if hysteresis complicates correlation between forcing and response. Results will bolster the breadth of case-studies available for this landslide morphology and provide regional land managers with predictors for increased landslide activity and associated hazards, such as rockfall or landslide dam

  10. central t

    Directory of Open Access Journals (Sweden)

    Manuel R. Piña Monarrez

    2007-01-01

    Full Text Available Dado que la Regresión Ridge (RR, es una estimación sesgada que parte de la solución de la regresión de Mínimos Cuadrados (MC, es vital establecer las condiciones para las que la distribución central t de Student que se utiliza en la prueba de hipótesis en MC, sea también aplicable a la regresión RR. La prueba de este importante resultado se presenta en este artículo.

  11. The influence of environmental variables on the functional structure of headwater stream fish assemblages: a study of two tropical basins in Central Brazil

    Directory of Open Access Journals (Sweden)

    Rodrigo Assis Carvalho

    Full Text Available We investigated functional patterns of fish assemblages of two adjacent basins (Araguaia and Tocantins to test whether their headwater stream fish assemblages are more functionally (dissimilar than expected by chance and whether these (dissimilarities are related to differences of environmental conditions between basins. We used an analysis of similarities (ANOSIM on a functional dissimilarity matrix to test for (dissimilarities between fish assemblages of both basins. We performed RLQ and fourth-corner analyses to determine fish species trait-environment relationship. Our results revealed functional dissimilarities between fish assemblages of both basins and significant species trait-environment relationships, suggesting that environmental conditions are driving such dissimilarities. Inter-basin dissimilarities are mainly driven by altitudinal and water temperature gradients, whereas dissimilarities among streams within the basins are influenced by channel depth, turbidity and conductivity. These five environmental variables mostly affected six fish species traits (body mass, water column position, substrate preference, parental care, foraging locality and migration in different manners. This study is an attempt to understand functional trends of fish assemblages in a tropical region that remains poorly known but severely threatened.

  12. Central sleep apnea

    Science.gov (United States)

    Sleep apnea - central; Obesity - central sleep apnea; Cheyne-Stokes - central sleep apnea; Heart failure - central sleep apnea ... Central sleep apnea results when the brain temporarily stops sending signals to the muscles that control breathing. The condition ...

  13. Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy.

    Science.gov (United States)

    Schoeler, Natasha E; Leu, Costin; White, Jon; Plagnol, Vincent; Ellard, Sian; Matarin, Mar; Yellen, Gary; Thiele, Elizabeth A; Mackay, Mark; McMahon, Jacinta M; Scheffer, Ingrid E; Sander, Josemir W; Cross, J Helen; Sisodiya, Sanjay M

    2015-12-01

    In the absence of specific metabolic disorders, predictors of response to ketogenic dietary therapies (KDT) are unknown. We aimed to determine whether variants in established candidate genes KCNJ11 and BAD influence response to KDT. We sequenced KCNJ11 and BAD in individuals without previously-known glucose transporter type 1 deficiency syndrome or other metabolic disorders, who received KDT for epilepsy. Hospital records were used to obtain demographic and clinical data. Two response phenotypes were used: ≥ 50% seizure reduction and seizure-freedom at 3-month follow-up. Case/control association tests were conducted with KCNJ11 and BAD variants with minor allele frequency (MAF)>0.01, using PLINK. Response to KDT in individuals with variants with MAFBAD sequencing data and diet response data. Six SNPs in KCNJ11 and two in BAD had MAF>0.01. Eight variants in KCNJ11 and seven in BAD (of which three were previously-unreported) had MAFBAD do not predict response to KDT for epilepsy. We can exclude, with 80% power, association from variants with a MAF of >0.05 and effect size >3. A larger sample size is needed to detect associations from rare variants or those with smaller effect sizes. Copyright © 2015 Elsevier B.V. All rights reserved.

  14. BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

    DEFF Research Database (Denmark)

    Shimelis, Hermela; Mesman, Romy L S; Von Nicolai, Catharina

    2017-01-01

    Breast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between 19 BRCA1 and 33 BRCA2 missense substitution variants and breast cancer risk ......, moderately increased risks of breast cancer, with potential implications for risk management guidelines in women with these specific variants. Cancer Res; 77(11); 2789-99. ©2017 AACR....... were investigated through a breast cancer case-control study using genotyping data from 38 studies of predominantly European ancestry (41,890 cases and 41,607 controls) and nine studies of Asian ancestry (6,269 cases and 6,624 controls). The BRCA2 c.9104A>C, p.Tyr3035Ser (OR = 2.52; P = 0.04), and BRCA...... of breast cancer among Asians. Functional characterization of the BRCA2 variants using four quantitative assays showed reduced BRCA2 activity for p.Tyr3035Ser compared with wild-type. Overall, our results show how BRCA2 missense variants that influence protein function can confer clinically relevant...

  15. CT diagnosis of rare histological variant of hepatocellular carcinoma

    International Nuclear Information System (INIS)

    Li Huaibo; Feng Zhipeng; Duan Shaoyin; Zhaugn Xiangrong

    2009-01-01

    Objective: To explore and understand the CT findings of 5 rare histological variants of hepatocellular carcinoma. Methods: CT findings of 31 cases of rare histological variants confirmed by surgery and pathology were analyzed retrospectively. Results: 13 cases were clear cell hepatocellular carcinoma. 3 cases of them showed patchy fat density in plain scans. Enhanced CT showed features of 'fast in fast out' which was similar to the common hepatocellular carcinoma. 4 cases belonged to sclerosis hepatocellular carcinoma. They appeared as heterogeneous, slowly enhancement on arterial phase images, and delay enhancement on portal venous phase and delay phase images. 9 cases belonged to mixed hepatocellular carcinoma. 5 cases of them showed inhomogeneous enhancement and 4 without enhancement during arterial phase, 3 cases showed delay enhancement and 4 without during portal venous and delay phase. 3 cases were fibrolamellar hepatocellular carcinoma. All showed obvious and fastly enhancement on arterial phase images, subsided slowly on the portal venous and delay phase images, showing features of 'fast in slow out', no enhancement was seen in the central scar. Shrinkage phenomenon on the surface of liver could be seen on the CT plain scans in sclerosis, mixed and fibrolamellar hepatocellular carcinoma. 2 cases were the type of dense hepatocellular carcinoma. The surrounding part in the 2 cases were slightly enhanced, while the most part of the center were not enhanced similar to necrosis. Conclusion: The CT findings of rate histological variant of hepatocellular carcinoma are characteristic. Analyzing the CT plain and enhancement finding is helpful to the diagnosis of these types of hepatocellular carcinoma. (authors)

  16. Involvement of genetic variants associated with primary open-angle glaucoma in pathogenic mechanisms and family history of glaucoma.

    Science.gov (United States)

    Mabuchi, Fumihiko; Sakurada, Yoichi; Kashiwagi, Kenji; Yamagata, Zentaro; Iijima, Hiroyuki; Tsukahara, Shigeo

    2015-03-01

    To investigate the associations between the non-intraocular pressure (IOP)-related genetic variants (genetic variants associated with vulnerability of the optic nerve independent of IOP) and primary open-angle glaucoma (POAG), including normal-tension glaucoma (NTG) and high-tension glaucoma (HTG), and between the non-IOP-related genetic variants and a family history of glaucoma. Case-control study. Japanese patients with NTG (n = 213) and HTG (n = 212) and 191 control subjects were genotyped for 5 non-IOP-related genetic variants predisposing to POAG near the SRBD1, ELOVL5, CDKN2B/CDKN2B-AS1, SIX1/SIX6, and ATOH7 genes. The load of these genetic variants was compared between the control subjects and patients with NTG or HTG and between the POAG patients with and without a family history of glaucoma. The total number of POAG risk alleles and the product of the odds ratios (POAG risk) of these genetic variants were significantly larger (P product of the odds ratios increased (P = .012 and P = .047, respectively). Non-IOP-related genetic variants contribute to the pathogenesis of HTG as well as NTG. A positive family history of glaucoma in cases of POAG is thought to reflect the influence of genetic variants predisposing to POAG. Copyright © 2015 Elsevier Inc. All rights reserved.

  17. Rare and common variants in LPL and APOA5 in Thai subjects with severe hypertriglyceridemia: A resequencing approach.

    Science.gov (United States)

    Khovidhunkit, Weerapan; Charoen, Supannika; Kiateprungvej, Arunrat; Chartyingcharoen, Palm; Muanpetch, Suwanna; Plengpanich, Wanee

    2016-01-01

    Severe hypertriglyceridemia usually results from a combination of genetic and environmental factors. Few data exist on the genetics of severe hypertriglyceridemia in Asian populations. To examine the genetic variants of 3 candidate genes known to influence triglyceride metabolism, LPL, APOC2, and APOA5, which encode lipoprotein lipase, apolipoprotein C-II, and apolipoprotein A-V, respectively, in a large group of Thai subjects with severe hypertriglyceridemia. We identified sequence variants of LPL, APOC2, and APOA5 by sequencing exons and exon-intron junctions in 101 subjects with triglyceride levels ≥ 10 mmol/L (886 mg/dL) and compared with those of 111 normotriglyceridemic subjects. Six different rare variants in LPL were found in 13 patients, 2 of which were novel (1 heterozygous missense variant: p.Arg270Gly and 1 frameshift variant: p.Asp308Glyfs*3). Four previously identified heterozygous missense variants in LPL were p.Ala98Thr, p.Leu279Val, p.Leu279Arg, and p.Arg432Thr. Collectively, these rare variants were found only in the hypertriglyceridemic group but not in the control group (13% vs 0%, P severe hypertriglyceridemia. A common p.Gly185Cys APOA5 variant, in particular, was quite prevalent and potentially contributed to hypertriglyceridemia in this group of patients. Copyright © 2015 National Lipid Association. Published by Elsevier Inc. All rights reserved.

  18. Beta-glucosidase variants and polynucleotides encoding same

    Science.gov (United States)

    Wogulis, Mark; Harris, Paul; Osborn, David

    2017-06-27

    The present invention relates to beta-glucosidase variants, e.g. beta-glucosidase variants of a parent Family GH3A beta-glucosidase from Aspergillus fumigatus. The present invention also relates to polynucleotides encoding the beta-glucosidase variants; nucleic acid constructs, vectors, and host cells comprising the polynucleotides; and methods of using the beta-glucosidase variants.

  19. A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

    NARCIS (Netherlands)

    Manning, Alisa; Highland, Heather M.; Gasser, Jessica; Sim, Xueling; Tukiainen, Taru; Fontanillas, Pierre; Grarup, Niels; Rivas, Manuel A.; Mahajan, Anubha; Locke, Adam E.; Cingolani, Pablo; Pers, Tune H.; Viñuela, Ana; Brown, Andrew A.; Wu, Ying; Flannick, Jason; Fuchsberger, Christian; Gamazon, Eric R.; Gaulton, Kyle J.; Im, Hae Kyung; Teslovich, Tanya M.; Blackwell, Thomas W.; Bork-Jensen, Jette; Burtt, Noël P.; Chen, Yuhui; Green, Todd; Hartl, Christopher; Kang, Hyun Min; Kumar, Ashish; Ladenvall, Claes; Ma, Clement; Moutsianas, Loukas; Pearson, Richard D.; Perry, John R. B.; Rayner, N. William; Robertson, Neil R.; Scott, Laura J.; van de Bunt, Martijn; Eriksson, Johan G.; Jula, Antti; Koskinen, Seppo; Lehtimäki, Terho; Palotie, Aarno; Raitakari, Olli T.; Jacobs, Suzanne B. R.; Wessel, Jennifer; Chu, Audrey Y.; Scott, Robert A.; Goodarzi, Mark O.; Blancher, Christine; Buck, Gemma; Buck, David; Chines, Peter S.; Gabriel, Stacey; Gjesing, Anette P.; Groves, Christopher J.; Hollensted, Mette; Huyghe, Jeroen R.; Jackson, Anne U.; Jun, Goo; Justesen, Johanne Marie; Mangino, Massimo; Murphy, Jacquelyn; Neville, Matt; Onofrio, Robert; Small, Kerrin S.; Stringham, Heather M.; Trakalo, Joseph; Banks, Eric; Carey, Jason; Carneiro, Mauricio O.; DePristo, Mark; Farjoun, Yossi; Fennell, Timothy; Goldstein, Jacqueline I.; Grant, George; Hrabé de Angelis, Martin; Maguire, Jared; Neale, Benjamin M.; Poplin, Ryan; Purcell, Shaun; Schwarzmayr, Thomas; Shakir, Khalid; Smith, Joshua D.; Strom, Tim M.; Wieland, Thomas; Lindstrom, Jaana; Brandslund, Ivan; Christensen, Cramer; Surdulescu, Gabriela L.; Lakka, Timo A.; Doney, Alex S. F.; Nilsson, Peter; Wareham, Nicholas J.; Langenberg, Claudia; Varga, Tibor V.; Franks, Paul W.; Rolandsson, Olov; Rosengren, Anders H.; Farook, Vidya S.; Thameem, Farook; Puppala, Sobha; Kumar, Satish; Lehman, Donna M.; Jenkinson, Christopher P.; Curran, Joanne E.; Hale, Daniel Esten; Fowler, Sharon P.; Arya, Rector; DeFronzo, Ralph A.; Abboud, Hanna E.; Syvänen, Ann-Christine; Hicks, Pamela J.; Palmer, Nicholette D.; Ng, Maggie C. Y.; Bowden, Donald W.; Freedman, Barry I.; Esko, Tõnu; Mägi, Reedik; Milani, Lili; Mihailov, Evelin; Metspalu, Andres; Narisu, Narisu; Kinnunen, Leena; Bonnycastle, Lori L.; Swift, Amy; Pasko, Dorota; Wood, Andrew R.; Fadista, João; Pollin, Toni I.; Barzilai, Nir; Atzmon, Gil; Glaser, Benjamin; Thorand, Barbara; Strauch, Konstantin; Peters, Annette; Roden, Michael; Müller-Nurasyid, Martina; Liang, Liming; Kriebel, Jennifer; Illig, Thomas; Grallert, Harald; Gieger, Christian; Meisinger, Christa; Lannfelt, Lars; Musani, Solomon K.; Griswold, Michael; Taylor, Herman A.; Wilson, Gregory; Correa, Adolfo; Oksa, Heikki; Scott, William R.; Afzal, Uzma; Tan, Sian-Tsung; Loh, Marie; Chambers, John C.; Sehmi, Jobanpreet; Kooner, Jaspal Singh; Lehne, Benjamin; Cho, Yoon Shin; Lee, Jong-Young; Han, Bok-Ghee; Käräjämäki, Annemari; Qi, Qibin; Qi, Lu; Huang, Jinyan; Hu, Frank B.; Melander, Olle; Orho-Melander, Marju; Below, Jennifer E.; Aguilar, David; Wong, Tien Yin; Liu, Jianjun; Khor, Chiea-Chuen; Chia, Kee Seng; Lim, Wei Yen; Cheng, Ching-Yu; Chan, Edmund; Tai, E. Shyong; Aung, Tin; Linneberg, Allan; Isomaa, Bo; Meitinger, Thomas; Tuomi, Tiinamaija; Hakaste, Liisa; Kravic, Jasmina; Jørgensen, Marit E.; Lauritzen, Torsten; Deloukas, Panos; Stirrups, Kathleen E.; Owen, Katharine R.; Farmer, Andrew J.; Frayling, Timothy M.; O'Rahilly, Stephen P.; Walker, Mark; Levy, Jonathan C.; Hodgkiss, Dylan; Hattersley, Andrew T.; Kuulasmaa, Teemu; Stančáková, Alena; Barroso, Inês; Bharadwaj, Dwaipayan; Chan, Juliana; Chandak, Giriraj R.; Daly, Mark J.; Donnelly, Peter J.; Ebrahim, Shah B.; Elliott, Paul; Fingerlin, Tasha; Froguel, Philippe; Hu, Cheng; Jia, Weiping; Ma, Ronald C. W.; McVean, Gilean; Park, Taesung; Prabhakaran, Dorairaj; Sandhu, Manjinder; Scott, James; Sladek, Rob; Tandon, Nikhil; teo, Yik Ying; Zeggini, Eleftheria; Watanabe, Richard M.; Koistinen, Heikki A.; Kesaniemi, Y. Antero; Uusitupa, Matti; Spector, Timothy D.; Salomaa, Veikko; Rauramaa, Rainer; Palmer, Colin N. A.; Prokopenko, Inga; Morris, Andrew D.; Bergman, Richard N.; Collins, Francis S.; Lind, Lars; Ingelsson, Erik; Tuomilehto, Jaakko; Karpe, Fredrik; Groop, Leif; Jørgensen, Torben; Hansen, Torben; Pedersen, Oluf; Kuusisto, Johanna; Abecasis, Gonçalo; Bell, Graeme I.; Blangero, John; Cox, Nancy J.; Duggirala, Ravindranath; Seielstad, Mark; Wilson, James G.; Dupuis, Josee; Ripatti, Samuli; Hanis, Craig L.; Florez, Jose C.; Mohlke, Karen L.; Meigs, James B.; Laakso, Markku; Morris, Andrew P.; Boehnke, Michael; Altshuler, David; McCarthy, Mark I.; Gloyn, Anna L.; Lindgren, Cecilia M.

    2017-01-01

    To identify novel coding association signals and facilitate characterization of mechanisms influencing glycemic traits and type 2 diabetes risk, we analyzed 109,215 variants derived from exome array genotyping together with an additional 390,225 variants from exome sequence in up to 39,339

  20. Association of genetic variants of the incretin-related genes with quantitative traits and occurrence of type 2 diabetes in Japanese

    Directory of Open Access Journals (Sweden)

    Mayumi Enya

    2014-01-01

    Conclusion: Rare variants of GIPR may contribute to the development of type 2 diabetes, possibly through insulin secretory defects. Furthermore, the genetic variant of PCSK1 might influence glucose homeostasis by altered insulin resistance independently of BMI, incretin level or proinsulin conversion, and may be associated with the occurrence of type 2 diabetes in Japanese.

  1. A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

    DEFF Research Database (Denmark)

    Manning, Alisa K; Highland, Heather M.; Gasser, Jessica

    2017-01-01

    To identify novel coding association signals and facilitate characterization of mechanisms influencing glycemic traits and type 2 diabetes risk, we analyzed 109,215 variants derived from exome array genotyping together with an additional 390,225 variants from exome sequence in up to 39,339 normog...

  2. Genotyping for NOD2 genetic variants and crohn disease: a metaanalysis

    DEFF Research Database (Denmark)

    Yazdanyar, Shiva; Weischer, Maren; Nordestgaard, Børge

    2009-01-01

    BACKGROUND: Arg702Trp, Gly908Arg, and Leu1007fsinsC variants of the NOD2 gene (nucleotide-binding oligomerization domain containing 2; alias, CARD15) influence the risk of Crohn disease. METHODS: We conducted a systematic review to examine whether Arg702Trp, Gly908Arg, and Leu1007fsinsC are equally...

  3. Clinical Relevance of HLA Gene Variants in HBV Infection

    Directory of Open Access Journals (Sweden)

    Li Wang

    2016-01-01

    Full Text Available Host gene variants may influence the natural history of hepatitis B virus (HBV infection. The human leukocyte antigen (HLA system, the major histocompatibility complex (MHC in humans, is one of the most important host factors that are correlated with the clinical course of HBV infection. Genome-wide association studies (GWASs have shown that single nucleotide polymorphisms (SNPs near certain HLA gene loci are strongly associated with not only persistent HBV infection but also spontaneous HBV clearance and seroconversion, disease progression, and the development of liver cirrhosis and HBV-related hepatocellular carcinoma (HCC in chronic hepatitis B (CHB. These variations also influence the efficacy of interferon (IFN and nucleot(side analogue (NA treatment and response to HBV vaccines. Meanwhile, discrepant conclusions were reached with different patient cohorts. It is therefore essential to identify the associations of specific HLA allele variants with disease progression and viral clearance in chronic HBV infection among different ethnic populations. A better understanding of HLA polymorphism relevance in HBV infection outcome would enable us to elucidate the roles of HLA SNPs in the pathogenesis and clearance of HBV in different areas and ethnic groups, to improve strategies for the prevention and treatment of chronic HBV infection.

  4. Centrality and Creativity:

    DEFF Research Database (Denmark)

    Andersen, Kristina Vaarst; Lorenzen, Mark

    2009-01-01

    To provide new insights into urban hierarchy, this article brings together one of economic geography’s oldest and most well-established notions with one of its newest and most disputed notions: Christäller’s centrality and Florida’s creative class. Using a novel original database, the article...... compares the distribution of the general population and the creative class across 444 city regions in 8 European countries. It finds that the two groups are both distributed according to the rank-size rule, but exhibit different distinct phases with different slopes. The article argues that the two...... distributions are different because market thresholds for creative services and jobs are lower than thresholds for less specialized services and jobs. The article hence concludes that centrality exerts a strong influence upon urban hierarchies of creativity and that the study of creative urban city hierarchies...

  5. Central hypothyroidism

    Directory of Open Access Journals (Sweden)

    Vishal Gupta

    2011-01-01

    Full Text Available Central hypothyroidism is defined as hypothyroidism due to insufficient stimulation by thyroid stimulating hormone (TSH of an otherwise normal thyroid gland. It has an estimated prevalence of approximately 1 in 80,000 to 1 in 120,000. It can be secondary hypothyroidism (pituitary or tertiary hypothyroidism (hypothalamus in origin. In children, it is usually caused by craniopharyngiomas or previous cranial irradiation for brain tumors or hematological malignancies. In adults, it is usually due to pituitary macroadenomas, pituitary surgeries or post-irradiation. Fatigue and peripheral edema are the most specific clinical features. Diagnosis is established by the presence of normal to low-normal TSH on the background of low-normal thyroid hormones, confirmed by the thyrotropin releasing hormone stimulation test. Therapy includes use of levothyroxine titrated to improvement in symptomology and keeping free T4 in the upper limit of normal reference range.

  6. Frequency of the GPR7 Tyr135Phe allelic variant in lean and obese subjects.

    Science.gov (United States)

    Pelosini, C; Maffei, M; Ceccarini, G; Marchi, M; Marsili, A; Galli, G; Scartabelli, G; Tamberi, A; Latrofa, F; Fierabracci, P; Vitti, P; Pinchera, A; Santini, F

    2013-10-01

    GPR7, the endogenous coupled receptor for neuropeptide B and neuropeptide W, is expressed in several regions of the central nervous system, which are involved in the regulation of feeding behavior. GPR7 affects the regulation of energy balance through a mechanism independent of leptin and melanocortin pathways. Aim of this study was to investigate whether GPR7 gene mutations can be detected in human subjects and, in that event, if they are differently distributed among lean and obese subjects. The coding region of GPR7 were sequenced in 150 obese patients and 100 normal-weight unrelated controls. Functional studies of the allelic variants were performed. One genetic GPR7 variant was found (Tyr135Phe - rs33977775) in obese subjects (13.3%) and lean control (25%). Functional studies did not reveal significant differences between the wild type and the Tyr135Phe allelic variants in their NPW-mediated capacity to inhibit forskolin-induced cAMP production. Screening of GPR7 gene mutations among lean and obese subjects revealed a Tyr135Phe allelic variant that was fairly common in the study population. As indicated by in vitro and in silico studies, this variant is unlikely to cause a functional derangement of the receptor.

  7. Annotating DNA variants is the next major goal for human genetics.

    Science.gov (United States)

    Cutting, Garry R

    2014-01-02

    Clinical genetic testing has undergone a dramatic transformation in the past two decades. Diagnostic laboratories that previously tested for well-established disease-causing DNA variants in a handful of genes have evolved into sequencing factories identifying thousands of variants of known and unknown medical consequence. Sorting out what does and does not cause disease in our genomes is the next great challenge in making genetics a central feature of healthcare. I propose that closing the gap in our ability to interpret variation responsible for Mendelian disorders provides a grand and unprecedented opportunity for geneticists. Human geneticists are well placed to coordinate a systematic evaluation of variants in collaboration with basic scientists and clinicians. Sharing of knowledge, data, methods, and tools will aid both researchers and healthcare workers in achieving their common goal of defining the pathogenic potential of variants. Generation of variant annotations will inform genetic testing and will deepen our understanding of gene and protein function, thereby aiding the search for molecular targeted therapies. Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  8. Word Variant Identification in Old French

    Directory of Open Access Journals (Sweden)

    Peter Willett

    1997-01-01

    Full Text Available Increasing numbers of historical texts are available in machine-readable form, which retain the original spelling, which can be very different from the modern-day equivalents due to the natural evolution of a language, and because the concept of standardisation in spelling is comparatively modern. Among medieval vernacular writers, the same word could be spelled in different ways and the same author (or scribe might even use several alternative spellings in the same passage. Thus, we do not know,a priori, how many variant forms of a particular word there are in such texts, let alone what these variants might be. Searching on the modern equivalent, or even the commonest historical variant, of a particular word may thus fail to retrieve an appreciable number of occurrences unless the searcher already has an extensive knowledge of the language of the documents. Moreover, even specialist scholars may be unaware of some idiosyncratic variants. Here, we consider the use of computer methods to retrieve variant historical spellings.

  9. Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic

    DEFF Research Database (Denmark)

    Ahlborn, Lise B; Dandanell, Mette; Steffensen, Ane Y

    2015-01-01

    by functional analysis at the protein level. Results from a validated mini-gene splicing assay indicated that nine BRCA1 variants resulted in splicing aberrations leading to truncated transcripts and thus can be considered pathogenic (c.4987A>T/p.Met1663Leu, c.4988T>A/p.Met1663Lys, c.5072C>T/p.Thr1691Ile, c......Pathogenic germline mutations in the BRCA1 gene predispose carriers to early onset breast and ovarian cancer. Clinical genetic screening of BRCA1 often reveals variants with uncertain clinical significance, complicating patient and family management. Therefore, functional examinations are urgently...... needed to classify whether these uncertain variants are pathogenic or benign. In this study, we investigated 14 BRCA1 variants by in silico splicing analysis and mini-gene splicing assay. All 14 alterations were missense variants located within the BRCT domain of BRCA1 and had previously been examined...

  10. Coupling ligand recognition to protein folding in an engineered variant of rabbit ileal lipid binding protein.

    Science.gov (United States)

    Kouvatsos, Nikolaos; Meldrum, Jill K; Searle, Mark S; Thomas, Neil R

    2006-11-28

    We have engineered a variant of the beta-clam shell protein ILBP which lacks the alpha-helical motif that caps the central binding cavity; the mutant protein is sufficiently destabilised that it is unfolded under physiological conditions, however, it unexpectedly binds its natural bile acid substrates with high affinity forming a native-like beta-sheet rich structure and demonstrating strong thermodynamic coupling between ligand binding and protein folding.

  11. Genetics in psychiatry: common variant association studies

    Directory of Open Access Journals (Sweden)

    Buxbaum Joseph D

    2010-03-01

    Full Text Available Abstract Many psychiatric conditions and traits are associated with significant heritability. Genetic risk for psychiatric conditions encompass rare variants, identified due to major effect, as well as common variants, the latter analyzed by association analyses. We review guidelines for common variant association analyses, undertaking after assessing evidence of heritability. We highlight the importance of: suitably large sample sizes; an experimental design that controls for ancestry; careful data cleaning; correction for multiple testing; small P values for positive findings; assessment of effect size for positive findings; and, inclusion of an independent replication sample. We also note the importance of a critical discussion of any prior findings, biological follow-up where possible, and a means of accessing the raw data.

  12. Hemoglobin Variants: Biochemical Properties and Clinical Correlates

    Science.gov (United States)

    Thom, Christopher S.; Dickson, Claire F.; Gell, David A.; Weiss, Mitchell J.

    2013-01-01

    Diseases affecting hemoglobin synthesis and function are extremely common worldwide. More than 1000 naturally occurring human hemoglobin variants with single amino acid substitutions throughout the molecule have been discovered, mainly through their clinical and/or laboratory manifestations. These variants alter hemoglobin structure and biochemical properties with physiological effects ranging from insignificant to severe. Studies of these mutations in patients and in the laboratory have produced a wealth of information on hemoglobin biochemistry and biology with significant implications for hematology practice. More generally, landmark studies of hemoglobin performed over the past 60 years have established important paradigms for the disciplines of structural biology, genetics, biochemistry, and medicine. Here we review the major classes of hemoglobin variants, emphasizing general concepts and illustrative examples. PMID:23388674

  13. Ghrelin gene: identification of missense variants and a frameshift mutation in extremely obese children and adolescents and healthy normal weight students.

    Science.gov (United States)

    Hinney, Anke; Hoch, Anne; Geller, Frank; Schäfer, Helmut; Siegfried, Wolfgang; Goldschmidt, Hanspeter; Remschmidt, Helmut; Hebebrand, Johannes

    2002-06-01

    Ghrelin induces obesity via central and peripheral mechanisms. Administration of ghrelin leads to increased food intake and decreased fat utilisation in rodents. Ghrelin levels are decreased in obese individuals. Recently, a polymorphism (Arg-51-Gln) within the ghrelin gene (GHRL) was described to be associated with obesity. We screened the GHRL coding region in 215 extremely obese German Children and adolescents (study group 1) and 93 normal weight students (study group 2) by single strand conformation polymorphism analysis (SSCP). We found the two previously described single nucleotide polymorphisms (SNP: Arg-51-Gln and Leu-72-Met) in similar frequencies in study groups 1 and 2 (allele frequencies were: 0.019 and 0.016 for the 51-Gln allele and 0.091 and 0.086 for the 72-Met allele, respectively). Hence, we could not confirm the previous finding. Additionally, two novel variants were identified within the coding region: (1) We detected one healthy normal weight individual with a frameshift mutation (2bp deletion at codon 34). This frameshift mutation affects the coding region of the mature ghrelin. Hence, it is highly likely that the normal weight student is haplo-insufficient for ghrelin. (2) An A to T transversion leads to an amino acid exchange from Gln to Leu at amino acid position 90. The frequency of the 90-Leu allele was significantly higher in the extremely obese children and adolescents (0.063) than in the normal weight students (0.016; nominal p = 0.011). Additionally, we genotyped 134 underweight students and 44 normal weight adults for this SNP. Genotype frequencies were similar in extremely obese children and adolescents, underweight students and normal weight adults (p > 0.8). In conclusion, we identified four sequence variants in the coding region of the ghrelin gene in individuals belonging to different weight extremes. A frameshift mutation was detected in a normal weight individual. None of the variants seem to influence weight regulation.

  14. Common and Low Frequency Variants in MERTK Are Independently Associated with Multiple Sclerosis Susceptibility with Discordant Association Dependent upon HLA-DRB1*15:01 Status.

    Directory of Open Access Journals (Sweden)

    Michele D Binder

    2016-03-01

    Full Text Available Multiple Sclerosis (MS is a chronic inflammatory demyelinating disease of the central nervous system. The risk of developing MS is strongly influenced by genetic predisposition, and over 100 loci have been established as associated with susceptibility. However, the biologically relevant variants underlying disease risk have not been defined for the vast majority of these loci, limiting the power of these genetic studies to define new avenues of research for the development of MS therapeutics. It is therefore crucial that candidate MS susceptibility loci are carefully investigated to identify the biological mechanism linking genetic polymorphism at a given gene to the increased chance of developing MS. MERTK has been established as an MS susceptibility gene and is part of a family of receptor tyrosine kinases known to be involved in the pathogenesis of demyelinating disease. In this study we have refined the association of MERTK with MS risk to independent signals from both common and low frequency variants. One of the associated variants was also found to be linked with increased expression of MERTK in monocytes and higher expression of MERTK was associated with either increased or decreased risk of developing MS, dependent upon HLA-DRB1*15:01 status. This discordant association potentially extended beyond MS susceptibility to alterations in disease course in established MS. This study provides clear evidence that distinct polymorphisms within MERTK are associated with MS susceptibility, one of which has the potential to alter MERTK transcription, which in turn can alter both susceptibility and disease course in MS patients.

  15. [Clinico-pathogenetic variants of chronic gastritis].

    Science.gov (United States)

    Chernin, V V; Dzhulaĭ, G S

    2004-01-01

    To evaluate specific features of the course of chronic gastritis (CG), morphofunctional condition of gastric mucosa, vegetative regulation, adrenergic and cholinergic shifts, histamine metabolism and effects of exogenic and endogenic risk factors in CG patients; to study clinicopathogenetic variants of CG. A total of 311 CG patients aged from 16 to 72 years were studied. They were divided into three groups by their gastric mucosa condition. The control group consisted of 30 healthy donors. The following parameters were studied: visual and histological condition of gastric mucosa, total acidity, the levels of free hydrochloric acid, pepsin, bioelectric gastric activity, general autonomic tonicity, cholinesterase activity. Three clinicopathogenetic variants of the disease have been identified. Variant 1 was characterized by a recurrent course, subjective manifestation of the disease only in exacerbation, surface (primarily antral) mucosal affection, normal or enhanced secretory and motor functions of the stomach, adequate reaction of acid production to caffeine and histamine stimulation, parasympathicotonia, absolute hyperhistaminemia, relative hypoacetylcholinemia, subnormal urinary excretion of adrenalin. Variant 2 manifested with rare recurrences, longer and more severe exacerbations, frequent spontaneous and provoked aggravations, moderate focal atrophy of the mucosa, secretory insufficiency with adequate reaction to histamine and minor to caffeine stimuli, hypomotor gastric dyskinesia, vegetative eutonia, normohistaminemia, absolute hypoacetylcholinemia, subnormal urinary excretion of noradrenaline. Variant 3 runs without definite remissions and exacerbations, with continuous abdominal pain and dyspepsia, frequent spontaneous aggravations, marked extended mucosal atrophy with secretory insufficiency up to achlorhydria, no stimulation of acid production in response to caffeine and histamine, gastric hypomotility, sympathicotonia, absolute hypohistaminemia

  16. Investigation and functional characterization of rare genetic variants in the adipose triglyceride lipase in a large healthy working population.

    Directory of Open Access Journals (Sweden)

    Stefan Coassin

    2010-12-01

    Full Text Available Recent studies demonstrated a strong influence of rare genetic variants on several lipid-related traits. However, their impact on free fatty acid (FFA plasma concentrations, as well as the role of rare variants in a general population, has not yet been thoroughly addressed. The adipose triglyceride lipase (ATGL is encoded by the PNPLA2 gene and catalyzes the rate-limiting step of lipolysis. It represents a prominent candidate gene affecting FFA concentrations. We therefore screened the full genomic region of ATGL for mutations in 1,473 randomly selected individuals from the SAPHIR (Salzburg Atherosclerosis Prevention program in subjects at High Individual Risk Study using a combined Ecotilling and sequencing approach and functionally investigated all detected protein variants by in-vitro studies. We observed 55 novel mostly rare genetic variants in this general population sample. Biochemical evaluation of all non-synonymous variants demonstrated the presence of several mutated but mostly still functional ATGL alleles with largely varying residual lipolytic activity. About one-quarter (3 out of 13 of the investigated variants presented a marked decrease or total loss of catalytic function. Genetic association studies using both continuous and dichotomous approaches showed a shift towards lower plasma FFA concentrations for rare variant carriers and an accumulation of variants in the lower 10%-quantile of the FFA distribution. However, the generally rather small effects suggest either only a secondary role of rare ATGL variants on the FFA levels in the SAPHIR population or a recessive action of ATGL variants. In contrast to these rather small effects, we describe here also the first patient with "neutral lipid storage disease with myopathy" (NLSDM with a point mutation in the catalytic dyad, but otherwise intact protein.

  17. Resequencing three candidate genes discovers seven potentially deleterious variants susceptibility to major depressive disorder and suicide attempts in Chinese.

    Science.gov (United States)

    Rao, Shitao; Leung, Cherry She Ting; Lam, Macro Hb; Wing, Yun Kwok; Waye, Mary Miu Yee; Tsui, Stephen Kwok Wing

    2017-03-01

    To date almost 200 genes were found to be associated with major depressive disorder (MDD) or suicide attempts (SA), but very few genes were reported for their molecular mechanisms. This study aimed to find out whether there were common or rare variants in three candidate genes altering the risk for MDD and SA in Chinese. Three candidate genes (HOMER1, SLC6A4 and TEF) were chosen for resequencing analysis and association studies as they were reported to be involved in the etiology of MDD and SA. Following that, bioinformatics analyses were applied on those variants of interest. After resequencing analysis and alignment for the amplicons, a total of 34 common or rare variants were found in the randomly selected 36 Hong Kong Chinese patients with both MDD and SA. Among those, seven variants show potentially deleterious features. Rs60029191 and a rare variant located in regulatory region of the HOMER1 gene may affect the promoter activities through interacting with predicted transcription factors. Two missense mutations existed in the SLC6A4 coding regions were firstly reported in Hong Kong Chinese MDD and SA patients, and both of them could affect the transport efficiency of SLC6A4 to serotonin. Moreover, a common variant rs6354 located in the untranslated region of this gene may affect the expression level or exonic splicing of serotonin transporter. In addition, both of a most studied polymorphism rs738499 and a low-frequency variant in the promoter region of the TEF gene were found to be located in potential transcription factor binding sites, which may let the two variants be able to influence the promoter activities of the gene. This study elucidated the potentially molecular mechanisms of the three candidate genes altering the risk for MDD and SA. These findings implied that not only common variants but rare variants could make contributions to the genetic susceptibility to MDD and SA in Chinese. Copyright © 2016 Elsevier B.V. All rights reserved.

  18. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

    DEFF Research Database (Denmark)

    Marshall, Christian R.; Howrigan, Daniel P.; Merico, Daniele

    2017-01-01

    Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline...

  19. Common variants near MC4R are associated with fat mass, weight and risk of obesity

    Science.gov (United States)

    Loos, Ruth J F; Lindgren, Cecilia M; Li, Shengxu; Wheeler, Eleanor; Zhao, Jing Hua; Prokopenko, Inga; Inouye, Michael; Freathy, Rachel M; Attwood, Antony P; Beckmann, Jacques S; Berndt, Sonja I; Bergmann, Sven; Bennett, Amanda J; Bingham, Sheila A; Bochud, Murielle; Brown, Morris; Cauchi, Stéphane; Connell, John M; Cooper, Cyrus; Smith, George Davey; Day, Ian; Dina, Christian; De, Subhajyoti; Dermitzakis, Emmanouil T; Doney, Alex S F; Elliott, Katherine S; Elliott, Paul; Evans, David M; Farooqi, I Sadaf; Froguel, Philippe; Ghori, Jilur; Groves, Christopher J; Gwilliam, Rhian; Hadley, David; Hall, Alistair S; Hattersley, Andrew T; Hebebrand, Johannes; Heid, Iris M; Herrera, Blanca; Hinney, Anke; Hunt, Sarah E; Jarvelin, Marjo-Riitta; Johnson, Toby; Jolley, Jennifer D M; Karpe, Fredrik; Keniry, Andrew; Khaw, Kay-Tee; Luben, Robert N; Mangino, Massimo; Marchini, Jonathan; McArdle, Wendy L; McGinnis, Ralph; Meyre, David; Munroe, Patricia B; Morris, Andrew D; Ness, Andrew R; Neville, Matthew J; Nica, Alexandra C; Ong, Ken K; O'Rahilly, Stephen; Owen, Katharine R; Palmer, Colin N A; Papadakis, Konstantinos; Potter, Simon; Pouta, Anneli; Qi, Lu; Randall, Joshua C; Rayner, Nigel W; Ring, Susan M; Sandhu, Manjinder S; Scherag, André; Sims, Matthew A; Song, Kijoung; Soranzo, Nicole; Speliotes, Elizabeth K; Syddall, Holly E; Teichmann, Sarah A; Timpson, Nicholas J; Tobias, Jonathan H; Uda, Manuela; Vogel, Carla I Ganz; Wallace, Chris; Waterworth, Dawn M; Weedon, Michael N; Willer, Cristen J; Wraight, Vicki L; Yuan, Xin; Zeggini, Eleftheria; Hirschhorn, Joel N; Strachan, David P; Ouwehand, Willem H; Caulfield, Mark J; Samani, Nilesh J; Frayling, Timothy M; Vollenweider, Peter; Waeber, Gerard; Mooser, Vincent; Deloukas, Panos; McCarthy, Mark I; Wareham, Nicholas J; Barroso, Inês; Jacobs, Kevin B; Chanock, Stephen J; Hayes, Richard B; Lamina, Claudia; Gieger, Christian; Illig, Thomas; Meitinger, Thomas; Wichmann, H-Erich; Kraft, Peter; Hankinson, Susan E; Hunter, David J; Hu, Frank B; Lyon, Helen N; Voight, Benjamin F; Ridderstrale, Martin; Groop, Leif; Scheet, Paul; Sanna, Serena; Abecasis, Goncalo R; Albai, Giuseppe; Nagaraja, Ramaiah; Schlessinger, David; Jackson, Anne U; Tuomilehto, Jaakko; Collins, Francis S; Boehnke, Michael; Mohlke, Karen L

    2009-01-01

    To identify common variants influencing body mass index (BMI), we analyzed genome-wide association data from 16,876 individuals of European descent. After previously reported variants in FTO, the strongest association signal (rs17782313, P = 2.9 × 10−6) mapped 188 kb downstream of MC4R (melanocortin-4 receptor), mutations of which are the leading cause of monogenic severe childhood-onset obesity. We confirmed the BMI association in 60,352 adults (per-allele effect = 0.05 Z-score units; P = 2.8 × 10−15) and 5,988 children aged 7–11 (0.13 Z-score units; P = 1.5 × 10−8). In case-control analyses (n = 10,583), the odds for severe childhood obesity reached 1.30 (P = 8.0 × 10−11). Furthermore, we observed overtransmission of the risk allele to obese offspring in 660 families (P (pedigree disequilibrium test average; PDT-avg) = 2.4 × 10−4). The SNP location and patterns of phenotypic associations are consistent with effects mediated through altered MC4R function. Our findings establish that common variants near MC4R influence fat mass, weight and obesity risk at the population level and reinforce the need for large-scale data integration to identify variants influencing continuous biomedical traits. PMID:18454148

  20. Normal variants of skin in neonates

    Directory of Open Access Journals (Sweden)

    Kulkarni M

    1996-01-01

    Full Text Available 2221 consecutive live births taking place between March 1994 and February 1995 were evaluated for a minimum period of 5 days to note for the occurrence of various normal anatomical variants specially those of skin. Birth weight, gestational age, maternal age, socio-economic status and consanguinity were carefully recorded in all the cases. Mongolian spots (72%, Epstein pearls (43.8%, Milia (26.2% and Erythema toxicum (25.2%, were the common dermatological variants noted. Maturity of the babies and possibly genetic factors (consanguinity are important factors in their causation as ordered in our study.

  1. Assessment of polymorphic variants in the melanocortin-1 receptor gene with cutaneous pigmentation using an evolutionary approach.

    Science.gov (United States)

    Kanetsky, Peter A; Ge, Fan; Najarian, Derek; Swoyer, Jennifer; Panossian, Saarene; Schuchter, Lynn; Holmes, Robin; Guerry, DuPont; Rebbeck, Timothy R

    2004-05-01

    The melanocortin-1 receptor gene (MC1R) encodes a membrane-bound receptor protein that is central to melanin synthesis. The coding region of MC1R is highly polymorphic and associations of variants with pigmentation phenotypes and risk for cutaneous neoplasms have been reported. We sought to determine the distribution and frequency of MC1R variants and their relationship to pigmentation characteristics in 179 Caucasian controls from the United States. One hundred thirty-five (75.4%) subjects carried one or more variants, and we determined that carriage of the previously designated "red hair color" (RHC) alleles, R151C, R160W, and D294H was strongly associated with fair pigmentation phenotypes including light hair and eye color, tendency to burn, decreased tendency to tan, and freckling. We used SIFT software to define MC1R protein positions that were predicted intolerant to amino acid substitutions; detected variants that corresponded to intolerant substitutions were D84E, R142H, R151C, I155T, R160W, and D294H. Carriage of one or more of these putative functionally important variants or the frameshift variant ins86A was significantly associated with fair pigmentation phenotypes. Analyses limited to carriage of ins86A and the three non-RHC alleles identified by SIFT were attenuated and no longer reached statistical significance. This is the first study to describe MC1R variants among control subjects from the U.S. Our results indicate that the frequency of variants is similar to that previously observed among non-U.S. Caucasians. Risk variants defined by either the published literature or by evolutionary criteria are strongly and significantly associated with all fair pigmentation phenotypes that were measured.

  2. Decentralized Heat Supply – Alternative to Centralized One

    OpenAIRE

    V. I. Nazarov; L. A. Tarasevich; А. L. Burov

    2012-01-01

    The paper presents a concrete example that shows comparative characteristics of decentralized and centralized heat supply. It has been shown in the paper that selection of this or that variant of heat supply significantly depends on losses in heat supply networks.

  3. Decentralized Heat Supply – Alternative to Centralized One

    Directory of Open Access Journals (Sweden)

    V. I. Nazarov

    2012-01-01

    Full Text Available The paper presents a concrete example that shows comparative characteristics of decentralized and centralized heat supply. It has been shown in the paper that selection of this or that variant of heat supply significantly depends on losses in heat supply networks.

  4. Central nervous system mesenchymal chondrosarcoma

    Energy Technology Data Exchange (ETDEWEB)

    Sa