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2. Gabrielle Suchon : Le droit des femmes à la science

Author

Mosconi, Nicole

Abstract

Cet article porte sur la deuxième partie du Traité de la Morale et de la Politique (1693) de la philosophe Gabrielle Suchon (1632-1703), consacré à la « Science », qui pose la question de l’accès des femmes aux savoirs savants de son temps. Il examinera successivement son analyse des moyens dont usent les hommes pour priver les femmes des sciences ; ensuite la manière dont elle réfute l’idée que cette pri-vation de science est de droit en démontrant que la science est pour les femmes de droit divin et de droit naturel. Enfin, l’autrice indique les moyens propres que les femmes peuvent trouver pour accéder à la Science (les études privées, les livres, les sociétés entre femmes) ainsi que le plaisir extrême qu’elles peuvent en retirer.

Published
2019

4. Whole-genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles

Author

Huffman, Jennifer E., Nicholas, Jayna, Hahn, Julie, Heath, Adam S., Raffield, Laura M., Yanek, Lisa R., Brody, Jennifer A., Thibord, Florian, Almasy, Laura, Bartz, Traci M., Bielak, Lawrence F., Bowler, Russell P., Carrasquilla, Germán D., Chasman, Daniel I., Chen, Ming-Huei, Emmert, David B., Ghanbari, Mohsen, Haessler, Jeffrey, Hottenga, Jouke-Jan, Kleber, Marcus E., Le, Ngoc-Quynh, Lee, Jiwon, Lewis, Joshua P., Li-Gao, Ruifang, Luan, Jian'an, Malmberg, Anni, Mangino, Massimo, Marioni, Riccardo E., Martinez-Perez, Angel, Pankratz, Nathan, Polasek, Ozren, Richmond, Anne, Rodriguez, Benjamin A. T., Rotter, Jerome I., Steri, Maristella, Suchon, Pierre, Trompet, Stella, Weiss, Stefan, Zare, Marjan, Auer, Paul, Cho, Michael H., Christofidou, Paraskevi, Davies, Gail, de Geus, Eco, Deleuze, Jean-François, Delgado, Graciela E., Ekunwe, Lynette, Faraday, Nauder, Gögele, Martin, Greinacher, Andreas, Gao, He, Howard, Tom, Joshi, Peter K., Kilpeläinen, Tuomas O., Lahti, Jari, Linneberg, Allan, Naitza, Silvia, Noordam, Raymond, Paüls-Vergés, Ferran, Rich, Stephen S., Rosendaal, Frits R., Rudan, Igor, Ryan, Kathleen A., Souto, Juan Carlos, van Rooij, Frank J. A., Wang, Heming, Zhao, Wei, Becker, Lewis C., Beswick, Andrew, Brown, Michael R., Cade, Brian E., Campbell, Harry, Cho, Kelly, Crapo, James D., Curran, Joanne E., de Maat, Moniek P. M., Doyle, Margaret, Elliott, Paul, Floyd, James S., Fuchsberger, Christian, Grarup, Niels, Guo, Xiuqing, Harris, Sarah E., Hou, Lifang, Kolcic, Ivana, Kooperberg, Charles, Menni, Cristina, Nauck, Matthias, O'Connell, Jeffrey R., Orrù, Valeria, Psaty, Bruce M., Räikkönen, Katri, Smith, Jennifer A., Soria, Jose Manuel, Stott, David J., van Hylckama Vlieg, Astrid, Watkins, Hugh, Willemsen, Gonneke, Wilson, Peter W. F., Ben-Shlomo, Yoav, Blangero, John, Boomsma, Dorret, Cox, Simon R., Dehghan, Abbas, Eriksson, Johan G., Fiorillo, Edoardo, Fornage, Myriam, Hansen, Torben, Hayward, Caroline, Ikram, M. Arfan, Jukema, J. Wouter, Kardia, Sharon L. R., Lange, Leslie A., März, Winfried, Mathias, Rasika A., Mitchell, Braxton D., Mook-Kanamori, Dennis O., Morange, Pierre-Emmanuel, Pedersen, Oluf, Pramstaller, Peter P., Redline, Susan, Reiner, Alexander, Ridker, Paul M., Silverman, Edwin K., Spector, Tim D., Völker, Uwe, Wareham, Nicholas J., Wilson, James F., Yao, Jie, Trégouët, David-Alexandre, Johnson, Andrew D., Wolberg, Alisa S., de Vries, Paul S., Sabater-Lleal, Maria, Morrison, Alanna C., and Smith, Nicholas L.

Abstract

•Largest and most diverse genetic study of plasma fibrinogen identifies 54 regions (18 novel), housing 69 distinct variants (20 novel).•Links to (1) liver enzyme, blood cell, and lipid genetic signals, (2) liver regulatory elements, and (3) thrombotic and inflammatory disease.

Published
2024
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5. Venous thromboembolism characteristics and outcomes among RIETE patients tested and untested for inherited thrombophilia

Author

Cohen, Omri, Waldman Radinsky, Liat, Kenet, Gili, Mahé, Isabelle, Barillari, Giovanni, Soler, Silvia, Sigüenza, Patricia, Del Valle Morales, María, Villares, Paula, Monreal, Manuel, Adarraga, MD, Alberich-Conesa, A, Aibar, J, Alda-Lozano, A, Alfonso, J, Amado, C, Angelina-García, M, Arcelus, JI, Ballaz, A, Barba, R, Barbagelata, C, Barrón, M, Barrón-Andrés, B, Beddar-Chaib, F, Blanco-Molina, A, Caballero, JC, Castellanos, G, Criado, J, De Ancos, C, Del Toro, J, Demelo-Rodríguez, P, De Juana-Izquierdo, C, Díaz-Peromingo, JA, Dubois-Silva, A, Escribano, JC, Falgá, C, Farfán-Sedano, AI, Fernández-Aracil, C, Fernández-Capitán, C, Fernández-Jiménez, B, Fernández-Reyes, JL, Fidalgo, MA, Francisco, I, Gabara, C, Galeano-Valle, F, García-Bragado, F, García-Ortega, A, Gavín-Sebastián, O, Gil-Díaz, A, Gómez-Cuervo, C, González-García, C, González-Munera, A, Grau, E, Guirado, L, Gutiérrez-Guisado, J, Hernández-Blasco, L, Herreros, M, Jara-Palomares, L, Jaras, MJ, Jiménez, D, Jou, I, Joya, MD, Lecumberri, R, Llamas, P, Lobo, JL, López-Jiménez, L, López-Miguel, P, López-Brull, H, López-Núñez, JJ, López-Ruiz, A, López-Sáez, JB, Lorenzo, A, Lumbierres, M, Madridano, O, Maestre, A, Marchena, PJ, Marcos, M, Martín del Pozo, M, Martín-Martos, F, Martínez-Prado, R, Maza, JM, Mena, E, Mercado, MI, Moisés, J, Molino, A, Monreal, M, Morales, MV, Navas, MS, Nieto, JA, Núñez-Fernández, MJ, Olid, M, Ordieres-Ortega, L, Ortiz, M, Osorio, J, Otálora, S, Otero, R, Pacheco-Gómez, N, Pagán, J, Palomeque, AC, Paredes, E, Parra-Caballero, P, Pedrajas, JM, Pérez-Ductor, C, Pérez-Pinar, M, Peris, ML, Pesce, ML, Porras, JA, Puchades, R, Rivera-Cívico, F, Rodríguez-Cobo, A, Romero-Brugera, M, Ruiz-Artacho, P, Ruiz-Giménez, N, Ruiz-Ruiz, J, Salgueiro, G, Sancho, T, Sendín, V, Sigüenza, P, Soler, S, Steinherr, A, Suárez-Fernández, S, Tirado, R, Torrents-Vilar, A, Torres, MI, Trujillo-Santos, J, Uresandi, F, Valle, R, Varona, JF, Villalobos, A, Villares, P, Ay, C, Nopp, S, Pabinger, I, Vanassche, T, Verhamme, P, Verstraete, A, Yoo, HHB, Montenegro, AC, Morales, SN, Roa, J, Hirmerova, J, Malý, R, Bertoletti, L, Bura-Riviere, A, Catella, J, Chopard, R, Couturaud, F, Espitia, O, Grange, C, Le Mao, R, Leclercq, B, Mahé, I, Morange, P, Moustafa, F, Plaisance, L, Sarlon-Bartoli, G, Suchon, P, Versini, E, Schellong, S, Brenner, B, Dally, N, Kenet, G, Tzoran, I, Sadeghipour, P, Rashidi, F, Abenante, A, Barillari, G, Basaglia, M, Bertoni, M, Bilora, F, Brandolin, B, Ciammaichella, M, Colaizzo, D, Dentali, F, Di Micco, P, Grandone, E, Imbalzano, E, Negro, F, Pesavento, R, Poz, A, Prandoni, P, Siniscalchi, C, Taflaj, B, Tufano, A, Visonà, A, Zalunardo, B, Skride, A, Kigitovica, D, Zicans, M, Fonseca, S, Marques, R, Meireles, J, Pinto, S, Bosevski, M, Trajkova, M, Zdraveska, M, Bounameaux, H, Mazzolai, L, Aujayeb, A, Caprini, JA, Weinberg, I, and Bui, HM

Abstract

•In a RIETE registry analysis of 103 818 patients with VTE, 20.3% were tested for IT, showing a substantial variance in outcomes.•A thoughtful IT testing approach should consider patients’ VTE risk factors and comorbidities.

Published
2024
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10. Venous thromboembolism characteristics, treatment and outcomes in young adults: findings from the Registro Informatizado de Enfermedad TromboEmbólica registry

Author

Cohen, Omri, Barg, Assaf A., Nowak-Göttl, Ulrike, Amado-Fernández, Cristina, Mazzolai, Lucia, Tiberio, Gregorio, Schellong, Sebastian, Skride, Andris, Morales, María del Valle, Monreal, Manuel, Kenet, Gili, Monreal, Manuel, Prandoni, Paolo, Brenner, Benjamin, Farge-Bancel, Dominique, Barba, Raquel, Di Micco, Pierpaolo, Bertoletti, Laurent, Schellong, Sebastian, Tzoran, Inna, Reis, Abilio, Bosevski, Marijan, Bounameaux, Henri, Malý, Radovan, Verhamme, Peter, Caprini, Joseph A., Bui, Hanh My, Adarraga, M.D., Alberich-Conesa, A., Alonso-Carrillo, J., Amado, C., Amorós, S., Arcelus, J.I., Ballaz, A., Barba, R., Barbagelata, C., Barrón, M., Barrón-Andrés, B., Blanco-Molina, A., Botella, E., Casado, I., Chasco, L., Cerdà, P., Criado, J., del Toro, J., De Juana-Izquierdo, C., Demelo-Rodríguez, P., Díaz-Brasero, A.M., Díaz-Pedroche, M.C., Díaz-Peromingo, J.A., Dubois-Silva, A., Escribano, J.C., Espósito, F., Falgá, C., Fernández-Capitán, C., Fernández-Jiménez, B., Fernández-Muixi, J., Fernández-Reyes, J.L., Fidalgo, M.A., Font, C., Francisco, I., Galeano-Valle, F., García, M.A., García de Herreros, M., García-Bragado, F., García-Ortega, A., Gavín-Sebastián, O., Gil-Díaz, A., Gómez-Cuervo, C., Gómez-Mosquera, A.M., González-Martínez, J., González-Moreno, M., Grau, E., Guirado, L., Gutiérrez, J., Hernández-Blasco, L., Jaras, M.J., Jiménez, D., Jou, I., Joya, M.D., Lacruz, B., Lainez-Justo, S., Lalueza, A., Latorre, A., Lecumberri, R., Lobo, J.L., López-De la Fuente, M., López-Jiménez, L., López-Miguel, P., López-Núñez, J.J., López-Ruiz, A., López-Sáez, J.B., Lorenzo, A., Lumbierres, M., Madridano, O., Maestre, A., Marcos, M., Martín-Martos, F., Mellado, M., Mena, E., Mercado, M.I., Moisés, J., Monreal, M., Muñoz-Blanco, A., Muñoz-Gamito, G., Morales, M.V., Nieto, J.A., Noguera-Gras, E., Núñez-Fernández, M.J., Osorio, J., Otalora, S., Pacheco-Gómez, N., Paredes-Ruiz, D., Parra, P., Pedrajas, J.M., Pérez-Ductor, C., Pérez-Jacoiste, M.A., Pérez-Pérez, J.L., Peris, M.L., Porras, J.A., Poyo-Molina, J., Puchades, R., Riera-Mestre, A., Rivera-Civico, F., Rivera-Gallego, A., Roca, M., Rosa, V., Rodríguez-Cobo, A., Ruiz-Giménez, N., Salgueiro, G., Sancho, T., Sendín, V., Sigüenza, P., Soler, S., Suriñach, J.M., Tiberio, G., Torres, M.I., Trujillo-Santos, J., Uresandi, F., Usandizaga, E., Valle, R., Varona, J.F., Vela, L., Vela, J.R., Villalobos, A., Villares, P., Ay, C., Nopp, S., Pabinger, I., Engelen, M.M., Martens, C., Verhamme, P., Yoo, H.H.B., Arguello, J.D., Montenegro, A.C., Roa, J., Hirmerova, J., Malý, R., Accassat, S., Bertoletti, L., Bura-Riviere, A., Catella, J., Chopard, R., Couturaud, F., Espitia, O., Leclercq, B., Le Mao, R., Mahé, I., Moustafa, F., Plaisance, L., Poenou, G., Sarlon-Bartoli, G., Suchon, P., Versini, E., Schellong, S., Braester, A., Brenner, B., Kenet, G., Tzoran, I., Sadeghipour, P., Basaglia, M., Bilora, F., Bortoluzzi, C., Brandolin, B., Ciammaichella, M., Colaizzo, D., De Angelis, A., Dentali, F., Di Micco, P., Grandone, E., Imbalzano, E., Merla, S., Pesavento, R., Prandoni, P., Scarinzi, P., Siniscalchi, C., Tufano, A., Visonà, A., Vo Hong, N., Zalunardo, B., Gibietis, V., Kigitovica, D., Skride, A., Fonseca, S., Manuel, M., Meireles, J., Bosevski, M., Bounameaux, H., Mazzolai, L., Aujayeb, A., Caprini, J.A., Weinberg, I., and Bui, H.M.

Abstract

Venous thromboembolism (VTE) is rare in patients aged <21 years. Young adults aged 18 to 21 years are frequently included in adult VTE studies, whereas pediatric VTE studies include patients aged up to either 18 or 21 years. The clinical characteristics of young adult patients with VTE have not been well defined.

Published
2023
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11. Antithrombin, Protein C, and Protein S: Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels

Author

Ji, Yuekai, Temprano-Sagrera, Gerard, Holle, Lori A., Bebo, Allison, Brody, Jennifer A., Le, Ngoc-Quynh, Kangro, Kadri, Brown, Michael R., Martinez-Perez, Angel, Sitlani, Colleen M., Suchon, Pierre, Kleber, Marcus E., Emmert, David B., Bilge Ozel, Ayse, Dobson, Dre’Von A., Tang, Weihong, Llobet, Dolors, Tracy, Russell P., Deleuze, Jean-François, Delgado, Graciela E., Gögele, Martin, Wiggins, Kerri L., Souto, Juan Carlos, Pankow, James S., Taylor, Kent D., Trégouët, David-Alexandre, Moissl, Angela P., Fuchsberger, Christian, Rosendaal, Frits R., Morrison, Alanna C., Soria, Jose Manuel, Cushman, Mary, Morange, Pierre-Emmanuel, März, Winfried, Hicks, Andrew A., Desch, Karl C., Johnson, Andrew D., de Vries, Paul S., Wolberg, Alisa S., Smith, Nicholas L., and Sabater-Lleal, Maria

Published
2023
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12. Bilan étiologique de la maladie thrombo-embolique veineuse (MTEV)

Author

El Harake, Sarah, Leclercq, Barbara, Gey, Léonie, Suchon, Pierre, Plu-Bureau, Geneviève, Cohen, Serge, Elias, Antoine, Sarlon, Gabrielle, and Morange, Pierre

Abstract

Comme vu précédemment la maladie thrombo-embolique veineuse (MTEV) regroupe deux entités cliniques que sont l’embolie pulmonaire (EP) et la thrombose veineuse profonde (TVP). Il s’agit d’une maladie multifactorielle résultant de l’interaction entre des facteurs de risque acquis, environnementaux et génétiques. L’âge, la présence de facteurs de risque transitoires, de signes évocateurs de cancer, une histoire familiale de thrombose et le caractère récidivant de la thrombose vont déterminer la nécessité de réaliser un bilan étiologique et en orienter son contenu.

Published
2023
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13. Approche et diagnostic de la maladie thromboembolique veineuse

Author

Gey, Léonie, Leclercq, Barbara, El Harake, Sarah, Suchon, Pierre, Plu-Bureau, Geneviève, Cohen, Serge, Elias, Antoine, Morange, Pierre, and Sarlon, Gabrielle

Abstract

La maladie thromboembolique veineuse (MTEV) est une maladie fréquente (incidence 1,57/1000 habitants en 2013).

Published
2023
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14. Traitement de la maladie veineuse thromboembolique à la phase aiguë

Author

Leclercq, Barbara, Cohen, Serge, Radix, Walfroy, Gey, Léonie, El Harake, Sarah, Suchon, Pierre, Plu-Bureau, Geneviève, Elias, Antoine, Morange, Pierre, and Sarlon, Gabrielle

Abstract

La prise en charge de la maladie thromboembolique veineuse (MTEV) repose principalement sur le traitement anticoagulant. Ce traitement doit être introduit le plus précocement possible une fois le diagnostic établi afin de stopper l’extension du thrombus et l’aggravation clinique du patient. L’arsenal thérapeutique et les indications des traitements anticoagulants ont beaucoup évolué au cours de la dernière décennie avec l’arrivée sur le marché des anticoagulants oraux directs. La molécule initiée à la phase aiguë dépend de la présentation clinique et des comorbidités associées.

Published
2023
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16. Assessment of a next generation sequencing gene panel strategy in 133 patients with negative thrombophilia screening

Author

Suchon, Pierre, Soukarieh, Omar, Bernard, Clara, Mariotti, Antoine, Ernest, Vincent, Barthet, Marie-Christine, Saut, Noémie, Theron, Alexandre, Biron-Andréani, Christine, Daniel, Mélanie Y., Catella, Judith, Rohrlich, Pierre-Simon, Blanc-Jouvan, Florence, Le Cam Duchez, Véronique, Dari, Loubna, Trégouët, David-Alexandre, and Morange, Pierre-Emmanuel

Abstract

Although heritability of venous thromboembolism (VTE) is high, the thrombophilia screening appears to be positive only in a minority of VTE patients. Adding rare variants screening to identify VTE missing heritability still requires further assessment.

Published
2025
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17. “Going vaccine hunting”: Multilevel influences on COVID-19 vaccination among racialized sexual and gender minority adults—a qualitative study

Author

Newman, Peter A., Dinh, Duy Anh, Massaquoi, Notisha, Williams, Charmaine C., Lacombe-Duncan, Ashley, Tepjan, Suchon, and Nyoni, Thabani

Abstract

ABSTRACTHigh levels of COVID-19 vaccine hesitancy have been reported among Black and Latinx populations, with lower vaccination coverage among racialized versus White sexual and gender minorities. We examined multilevel contexts that influence COVID-19 vaccine uptake, barriers to vaccination, and vaccine hesitancy among predominantly racialized sexual and gender minority individuals. Semi-structured online interviews explored perspectives and experiences around COVID-19 vaccination. Interviews were recorded, transcribed, uploaded into ATLAS.ti, and reviewed using thematic analysis. Among 40 participants (mean age, 29.0 years [SD, 9.6]), all identified as sexual and/or gender minority, 82.5% of whom were racialized. COVID-19 vaccination experiences were dominated by structural barriers: systemic racism, transphobia and homophobia in healthcare and government/public health institutions; limited availability of vaccination/appointments in vulnerable neighborhoods; absence of culturally-tailored and multi-language information; lack of digital/internet access; and prohibitive indirect costs of vaccination. Vaccine hesitancy reflected in uncertainties about a novel vaccine amid conflicting information and institutional mistrust was integrally linked to structural factors. Findings suggest that the uncritical application of “vaccine hesitancy” to unilaterally explain undervaccination among marginalized populations risks conflating structural and institutional barriers with individual-level psychological factors, in effect placing the onus on those most disenfranchised to overcome societal and institutional processes of marginalization. Rather, disaggregating structural determinants of vaccination availability, access, and institutional stigma and mistrust from individual attitudes and decision-making that reflect vaccine hesitancy, may support 1) evidence-informed interventions to mitigate structural barriers in access to vaccination, and 2) culturally-informed approaches to address decisional ambivalence in the context of structural homophobia, transphobia, and racism.

Published
2024
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18. Covid-19 Vaccine Hesitancy and Under-Vaccination among Marginalized Populations in the United States and Canada: A Scoping Review

Author

Newman, Peter A., Dinh, Duy A., Nyoni, Thabani, Allan, Kate, Fantus, Sophia, Williams, Charmaine C., Tepjan, Suchon, Reid, Luke, and Guta, Adrian

Abstract

Background: Amid persistent disparities in Covid-19 vaccination and burgeoning research on vaccine hesitancy (VH), we conducted a scoping review to identify multilevel determinants of Covid-19 VH and under-vaccination among marginalized populations in the U.S. and Canada. Methods: Using the scoping review methodology developed by the Joanna Briggs Institute, we designed a search string and explored 7 databases to identify peer-reviewed articles published from January 1, 2020–October 25, 2022. We combine frequency analysis and narrative synthesis to describe factors influencing Covid-19 VH and under-vaccination among marginalized populations. Results: The search captured 11,374 non-duplicated records, scoped to 103 peer-reviewed articles. Among 14 marginalized populations identified, African American/Black, Latinx, LGBTQ+, American Indian/Indigenous, people with disabilities, and justice-involved people were the predominant focus. Thirty-two factors emerged as influencing Covid-19 VH, with structural racism/stigma and institutional mistrust (structural)(n = 71) most prevalent, followed by vaccine safety (vaccine-specific)(n = 62), side effects (vaccine-specific)(n = 50), trust in individual healthcare provider (social/community)(n = 38), and perceived risk of infection (individual)(n = 33). Structural factors predominated across populations, including structural racism/stigma and institutional mistrust, barriers to Covid-19 vaccine access due to limited supply/availability, distance/lack of transportation, no/low paid sick days, low internet/digital technology access, and lack of culturally- and linguistically-appropriate information. Discussion: We identified multilevel and complex drivers of Covid-19 under-vaccination among marginalized populations. Distinguishing vaccine-specific, individual, and social/community factors that may fuel decisional ambivalence, more appropriately defined as VH, from structural racism/structural stigma and systemic/institutional barriers to vaccination access may better support evidence-informed interventions to promote equity in access to vaccines and informed decision-making among marginalized populations.

Published
2023
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19. Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors

Author

Thibord, Florian, Klarin, Derek, Brody, Jennifer A., Chen, Ming-Huei, Levin, Michael G., Chasman, Daniel I., Goode, Ellen L., Hveem, Kristian, Teder-Laving, Maris, Martinez-Perez, Angel, Aïssi, Dylan, Daian-Bacq, Delphine, Ito, Kaoru, Natarajan, Pradeep, Lutsey, Pamela L., Nadkarni, Girish N., de Vries, Paul S., Cuellar-Partida, Gabriel, Wolford, Brooke N., Pattee, Jack W., Kooperberg, Charles, Braekkan, Sigrid K., Li-Gao, Ruifang, Saut, Noemie, Sept, Corriene, Germain, Marine, Judy, Renae L., Wiggins, Kerri L., Ko, Darae, O’Donnell, Christopher J., Taylor, Kent D., Giulianini, Franco, De Andrade, Mariza, Nøst, Therese H., Boland, Anne, Empana, Jean-Philippe, Koyama, Satoshi, Gilliland, Thomas, Do, Ron, Huffman, Jennifer E., Wang, Xin, Zhou, Wei, Manuel Soria, Jose, Carlos Souto, Juan, Pankratz, Nathan, Haessler, Jeffery, Hindberg, Kristian, Rosendaal, Frits R., Turman, Constance, Olaso, Robert, Kember, Rachel L., Bartz, Traci M., Lynch, Julie A., Heckbert, Susan R., Armasu, Sebastian M., Brumpton, Ben, Smadja, David M., Jouven, Xavier, Komuro, Issei, Clapham, Katharine R., Loos, Ruth J.F., Willer, Cristen J., Sabater-Lleal, Maria, Pankow, James S., Reiner, Alexander P., Morelli, Vania M., Ridker, Paul M, Vlieg, Astrid van Hylckama, Deleuze, Jean-François, Kraft, Peter, Rader, Daniel J., Min Lee, Kyung, Psaty, Bruce M., Heidi Skogholt, Anne, Emmerich, Joseph, Suchon, Pierre, Rich, Stephen S., Vy, Ha My T., Tang, Weihong, Jackson, Rebecca D., Hansen, John-Bjarne, Morange, Pierre-Emmanuel, Kabrhel, Christopher, Trégouët, David-Alexandre, Damrauer, Scott M., Johnson, Andrew D., and Smith, Nicholas L.

Published
2022
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21. Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays

Author

de la Morena-Barrio, Maria Eugenia, Suchon, Pierre, Jacobsen, Eva Marie, Iversen, Nina, Miñano, Antonia, de la Morena-Barrio, Belén, Bravo-Pérez, Carlos, Padilla, Jose, Cifuentes, Rosa, Asenjo, Susana, Deleuze, Jean François, Trégouët, David Alexandre, Lozano, Maria Luisa, Vicente, Vicente, Sandset, Per Morten, Morange, Pierre Emmanuel, and Corral, Javier

Abstract

Antithrombin deficiency, the most severe congenital thrombophilia, might be underestimated, as some pathogenic variants are not detected by routine functional methods. We have identified 2 new SERPINC1 variants, p.Glu227Lys and p.Asn224His, in 4 unrelated thrombophilic patients with early and recurrent thrombosis that had normal antithrombin activity. In one case, the mutation was identified by whole genome sequencing, while in the 3 remaining cases, the mutation was identified by sequencing SERPINC1 based on a single functional positive finding supporting deficiency. The 2 variants shared a common functional defect, an impaired or null N-glycosylation of Asn224 according to a eukaryotic expression model. Carriers had normal anti-FXa or anti-FIIa activities but impaired anti-FVIIa activity and a detectable loss of inhibitory function when incubating the plasma for 1 hour at 41°C. Moreover, the β glycoform of the variants, lacking 2 N-glycans, had reduced secretion, increased heparin affinity, no inhibitory activity, and a potential dominant–negative effect. These results explain the increased thrombin generation observed in carriers. Mutation experiments reflected the role that Lysine residues close to the N-glycosylation sequon have in impairing the efficacy of N-glycosylation. Our study shows new elements involved in the regulation of N-glycosylation, a key posttranslational modification that, according to our results, affects folding, secretion, and function, providing new evidence of the pathogenic consequence of an incorrect N-glycosylation of antithrombin. This study supports that antithrombin deficiency is underestimated and encourages the development of new functional and genetic tests to diagnose this severe thrombophilia.

Published
2022
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22. Multi‐phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations

Author

Temprano‐Sagrera, Gerard, Sitlani, Colleen M., Bone, William P., Martin‐Bornez, Miguel, Voight, Benjamin F., Morrison, Alanna C., Damrauer, Scott M., de Vries, Paul S., Smith, Nicholas L., Sabater‐Lleal, Maria, Dehghan, Abbas, Heath, Adam S, Morrison, Alanna C, Reiner, Alex P, Johnson, Andrew, Richmond, Anne, Peters, Annette, van Hylckama Vlieg, Astrid, McKnight, Barbara, Psaty, Bruce M, Hayward, Caroline, Ward‐Caviness, Cavin, O’Donnell, Christopher, Chasman, Daniel, Strachan, David P, Tregouet, David A, Mook‐Kanamori, Dennis, Gill, Dipender, Thibord, Florian, Asselbergs, Folkert W, Leebeek, Frank W.G., Rosendaal, Frits R, Davies, Gail, Homuth, Georg, Temprano, Gerard, Campbell, Harry, Taylor, Herman A, Bressler, Jan, Huffman, Jennifer E, Rotter, Jerome I, Yao, Jie, Wilson, James F, Bis, Joshua C, Hahn, Julie M, Desch, Karl C, Wiggins, Kerri L, Raffield, Laura M, Bielak, Lawrence F, Yanek, Lisa R, Kleber, Marcus E, Sabater‐Lleal, Maria, Mueller, Martina, Kavousi, Maryam, Mangino, Massimo, Liu, Melissa, Brown, Michael R, Conomos, Matthew P, Jhun, Min‐A, Chen, Ming‐Huei, de Maat, Moniek P.M., Pankratz, Nathan, Smith, Nicholas L, Peyser, Patricia A, Elliot, Paul, de Vries, Paul S, Wei, Peng, Wild, Philipp S, Morange, Pierre E, van der Harst, Pim, Yang, Qiong, Le, Ngoc‐Quynh, Marioni, Riccardo, Li, Ruifang, Damrauer, Scott M, Cox, Simon R, Trompet, Stella, Felix, Stephan B, Völker, Uwe, Tang, Weihong, Koenig, Wolfgang, Jukema, J. Wouter, Guo, Xiuqing, Lindstrom, Sara, Wang, Lu, Smith, Erin N, Gordon, William, van Hylckama Vlieg, Astrid, de Andrade, Mariza, Brody, Jennifer A, Pattee, Jack W, Haessler, Jeffrey, Brumpton, Ben M, Chasman, Daniel I, Suchon, Pierre, Chen, Ming‐Huei, Turman, Constance, Germain, Marine, Wiggins, Kerri L, MacDonald, James, Braekkan, Sigrid K, Armasu, Sebastian M, Pankratz, Nathan, Jackson, Rabecca D, Nielsen, Jonas B, Giulianini, Franco, Puurunen, Marja K, Ibrahim, Manal, Heckbert, Susan R, Bammler, Theo K, Frazer, Kelly A, McCauley, Bryan M, Taylor, Kent, Pankow, James S, Reiner, Alexander P, Gabrielsen, Maiken E, Deleuze, Jean‐François, O’Donnell, Chris J, Kim, Jihye, McKnight, Barbara, Kraft, Peter, Hansen, John‐Bjarne, Rosendaal, Frits R, Heit, John A, Psaty, Bruce M, Tang, Weihong, Kooperberg, Charles, Hveem, Kristian, Ridker, Paul M, Morange, Pierre‐Emmanuel, Johnson, Andrew D, Kabrhel, Christopher, Trégouët, David‐Alexandre, Smith, Nicholas L, Malik, Rainer, Chauhan, Ganesh, Traylor, Matthew, Sargurupremraj, Muralidharan, Okada, Yukinori, Mishra, Aniket, Rutten‐Jacobs, Loes, Giese, Anne‐Katrin, van der Laan, Sander W, Gretarsdottir, Solveig, Anderson, Christopher D, Chong, Michael, Adams, Hieab HH, Ago, Tetsuro, Almgren, Peter, Amouyel, Philippe, Ay, Hakan, Bartz, Traci M, Benavente, Oscar R, Bevan, Steve, Boncoraglio, Giorgio B, Brown, Robert D, Butterworth, Adam S, Carrera, Caty, Carty, Cara L, Chasman, Daniel I, Chen, Wei‐Min, Cole, John W, Correa, Adolfo, Cotlarciuc, Ioana, Cruchaga, Carlos, Danesh, John, de Bakker, Paul IW, DeStefano, Anita L, den Hoed, Marcel, Duan, Qing, Engelter, Stefan T, Falcone, Guido J, Gottesman, Rebecca F, Grewal, Raji P, Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeffrey, Harris, Tamara B, Hassan, Ahamad, Havulinna, Aki S, Heckbert, Susan R, Holliday, Elizabeth G, Howard, George, Hsu, Fang‐Chi, Hyacinth, Hyacinth I, Arfan Ikram, M, Ingelsson, Erik, Irvin, Marguerite R, Jian, Xueqiu, Jiménez‐Conde, Jordi, Johnson, Julie A, Jukema, J Wouter, Kanai, Masahiro, Keene, Keith L, Kissela, Brett M, Kleindorfer, Dawn O, Kooperberg, Charles, Kubo, Michiaki, Lange, Leslie A, Langefeld, Carl D, Langenberg, Claudia, Launer, Lenore J, Lee, Jin‐Moo, Lemmens, Robin, Leys, Didier, Lewis, Cathryn M, Lin, Wei‐Yu, Lindgren, Arne G, Lorentzen, Erik, Magnusson, Patrik K, Maguire, Jane, Manichaikul, Ani, McArdle, Patrick F, Meschia, James F, Mitchell, Braxton D, Mosley, Thomas H, Nalls, Michael A, Ninomiya, Toshiharu, O’Donnell, Martin J, Psaty, Bruce M, Pulit, Sara L, Rannikmäe, Kristiina, Reiner, Alexander P, Rexrode, Kathryn M, Rice, Kenneth, Rich, Stephen S, Ridker, Paul M, Rost, Natalia S, Rothwell, Peter M, Rotter, Jerome I, Rundek, Tatjana, Sacco, Ralph L, Sakaue, Saori, Sale, Michele M, Salomaa, Veikko, Sapkota, Bishwa R, Schmidt, Reinhold, Schmidt, Carsten O, Schminke, Ulf, Sharma, Pankaj, Slowik, Agnieszka, Sudlow, Cathie LM, Tanislav, Christian, Tatlisumak, Turgut, Taylor, Kent D, Thijs, Vincent NS, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tiedt, Steffen, Trompet, Stella, Tzourio, Christophe, van Duijn, Cornelia M, Walters, Matthew, Wareham, Nicholas J, Wassertheil‐Smoller, Sylvia, Wilson, James G, Wiggins, Kerri L, Yang, Qiong, Yusuf, Salim, Amin, Najaf, Aparicio, Hugo S, Arnett, Donna K, Attia, John, Beiser, Alexa S, Berr, Claudine, Buring, Julie E, Bustamante, Mariana, Caso, Valeria, Cheng, Yu‐Ching, Hoan Choi, Seung, Chowhan, Ayesha, Cullell, Natalia, Dartigues, Jean‐François, Delavaran, Hossein, Delgado, Pilar, Dörr, Marcus, Engström, Gunnar, Ford, Ian, Gurpreet, Wander S, Hamsten, Anders, Heitsch, Laura, Hozawa, Atsushi, Ibanez, Laura, Ilinca, Andreea, Ingelsson, Martin, Iwasaki, Motoki, Jackson, Rebecca D, Jood, Katarina, Jousilahti, Pekka, Kaffashian, Sara, Kalra, Lalit, Kamouchi, Masahiro, Kitazono, Takanari, Kjartansson, Olafur, Kloss, Manja, Koudstaal, Peter J, Krupinski, Jerzy, Labovitz, Daniel L, Laurie, Cathy C, Levi, Christopher R, Li, Linxin, Lind, Lars, Lindgren, Cecilia M, Lioutas, Vasileios, Mei Liu, Yong, Lopez, Oscar L, Makoto, Hirata, Martinez‐Majander, Nicolas, Matsuda, Koichi, Minegishi, Naoko, Montaner, Joan, Morris, Andrew P, Muiño, Elena, Müller‐Nurasyid, Martina, Norrving, Bo, Ogishima, Soichi, Parati, Eugenio A, Reddy Peddareddygari, Leema, Pedersen, Nancy L, Pera, Joanna, Perola, Markus, Pezzini, Alessandro, Pileggi, Silvana, Rabionet, Raquel, Riba‐Llena, Iolanda, Ribasés, Marta, Romero, Jose R, Roquer, Jaume, Rudd, Anthony G, Sarin, Antti‐Pekka, Sarju, Ralhan, Sarnowski, Chloe, Sasaki, Makoto, Satizabal, Claudia L, Satoh, Mamoru, Sattar, Naveed, Sawada, Norie, Sibolt, Gerli, Sigurdsson, Ásgeir, Smith, Albert, Sobue, Kenji, Soriano‐Tárraga, Carolina, Stanne, Tara, Colin Stine, O, Stott, David J, Strauch, Konstantin, Takai, Takako, Tanaka, Hideo, Tanno, Kozo, Teumer, Alexander, Tomppo, Liisa, Torres‐Aguila, Nuria P, Touze, Emmanuel, Tsugane, Shoichiro, Uitterlinden, Andre G, Valdimarsson, Einar M, van der Lee, Sven J, Völzke, Henry, Wakai, Kenji, Weir, David, Williams, Stephen R, Wolfe, Charles DA, Wong, Quenna, Xu, Huichun, Yamaji, Taiki, Sanghera, Dharambir K, Melander, Olle, Jern, Christina, Strbian, Daniel, Fernandez‐Cadenas, Israel, Longstreth, W T, Rolfs, Arndt, Hata, Jun, Woo, Daniel, Rosand, Jonathan, Pare, Guillaume, Hopewell, Jemma C, Saleheen, Danish, Stefansson, Kari, Worrall, Bradford B, Kittner, Steven J, Seshadri, Sudha, Fornage, Myriam, Markus, Hugh S, Howson, Joanna MM, Kamatani, Yoichiro, Debette, Stephanie, and Dichgans, Martin

Abstract

Multi‐phenotype analysis of genetically correlated phenotypes can increase the statistical power to detect loci associated with multiple traits, leading to the discovery of novel loci. This is the first study to date to comprehensively analyze the shared genetic effects within different hemostatic traits, and between these and their associated disease outcomes.

Published
2022
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23. Trombofilias constitucionales y síndrome de los antifosfolípidos

Author

Suchon, P., Kosta, M.I., and Morange, P.E.

Abstract

La enfermedad tromboembólica venosa (ETV) es una patología compleja resultado de la interacción entre factores genéticos y ambientales. El componente genético es mayor, ya que se calcula la herencia en un 50%. Cuando se sospecha un componente genético, clásicamente se investigan cinco factores genéticos causantes de hipercoagulabilidad: los déficits de antitrombina, proteína C y proteína S, el factor V Leiden y la mutación G20210A del gen de la protrombina. Sin embargo, estos factores genéticos sólo explican una pequeña parte de la herencia de la ETV. La democratización de las herramientas de biología molecular ha permitido identificar nuevos marcadores genéticos. Estos nuevos marcadores pueden clasificarse según su frecuencia. Por un lado, se describen variantes frecuentes asociadas a un bajo riesgo trombótico, identificadas sobre todo mediante enfoque pangenómico. El papel de estos nuevos marcadores en el tratamiento de los pacientes no está definido y su investigación no se recomienda en este momento. Por otro lado, se han identificado variantes raras en familias seleccionadas (ETV que afecta a varias personas jóvenes). Son mutaciones privadas. Es probable que esta última estrategia se desarrolle con la democratización de la secuenciación de alto rendimiento. Además de las anomalías constitucionales, se pueden buscar anomalías adquiridas para explicar un episodio trombótico. Entre estas anomalías, el síndrome de los antifosfolípidos (SAF) ocupa un lugar destacado por su influencia en el control terapéutico. Las dificultades de interpretación de los resultados de laboratorio ligados a los tratamientos anticoagulantes y las diversas situaciones clínicas deberían animar a los prescriptores a remitir a los pacientes a los servicios especializados.

Published
2022
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24. A genetic-association study of circulating coagulation factor VIII and von Willebrand factor levels

Author

de Vries, Paul S., Reventun, Paula, Brown, Michael R., Heath, Adam S., Huffman, Jennifer E., Le, Ngoc-Quynh, Bebo, Allison, Brody, Jennifer A., Temprano-Sagrera, Gerard, Raffield, Laura M., Ozel, Ayse Bilge, Thibord, Florian, Jain, Deepti, Lewis, Joshua P., Rodriguez, Benjmain A. T., Pankratz, Nathan, Taylor, Kent D., Polasek, Ozren, Chen, Ming-Huei, Yanek, Lisa R., Carrasquilla, German D., Marioni, Riccardo E., Kleber, Marcus E., Trégouët, David-Alexandre, Yao, Jie, Li-Gao, Ruifang, Joshi, Peter K., Trompet, Stella, Martinez-Perez, Angel, Ghanbari, Mohsen, Howard, Tom E., Reiner, Alex P., Arvanitis, Marios, Ryan, Kathleen A., Bartz, Traci M., Rudan, Igor, Faraday, Nauder, Linneberg, Allan, Ekunwe, Lynette, Davies, Gail, Delgado, Graciela E., Suchon, Pierre, Guo, Xiuqing, Rosendaal, Frits R., Klaric, Lucija, Noordam, Raymond, van Rooij, Frank, Curran, Joanne E., Wheeler, Marsha M., Osburn, William O., O'Connell, Jeffrey R., Boerwinkle, Eric, Beswick, Andrew, Psaty, Bruce M., Kolcic, Ivana, Souto, Juan Carlos, Becker, Lewis C., Hansen, Torben, Doyle, Margaret F., Harris, Sarah E., Moissl, Angela P., Deleuze, Jean-François, Rich, Stephen S., van Hylckama Vlieg, Astrid, Campbell, Harry, Stott, David J., Soria, Jose Manuel, de Maat, Moniek P. M., Almasy, Laura, Brody, Lawrence C., Auer, Paul L., Abe, Namiko, Abecasis, Gonçalo, Aguet, Francois, Albert, Christine, Almasy, Laura, Alonso, Alvaro, Ament, Seth, Anderson, Peter, Anugu, Pramod, Applebaum-Bowden, Deborah, Ardlie, Kristin, Arking, Dan, Arnett, Donna K, Ashley-Koch, Allison, Aslibekyan, Stella, Assimes, Tim, Auer, Paul, Avramopoulos, Dimitrios, Ayas, Najib, Balasubramanian, Adithya, Barnard, John, Barnes, Kathleen, Barr, R. Graham, Barron-Casella, Emily, Barwick, Lucas, Beaty, Terri, Beck, Gerald, Becker, Diane, Becker, Lewis, Beer, Rebecca, Beitelshees, Amber, Benjamin, Emelia, Benos, Takis, Bezerra, Marcos, Bielak, Larry, Bis, Joshua, Blackwell, Thomas, Blangero, John, Blue, Nathan, Boerwinkle, Eric, Bowden, Donald W., Bowler, Russell, Brody, Jennifer, Broeckel, Ulrich, Broome, Jai, Brown, Deborah, Bunting, Karen, Burchard, Esteban, Bustamante, Carlos, Buth, Erin, Cade, Brian, Cardwell, Jonathan, Carey, Vincent, Carrier, Julie, Carson, April P., Carty, Cara, Casaburi, Richard, Casas Romero, Juan P, Casella, James, Castaldi, Peter, Chaffin, Mark, Chang, Christy, Chang, Yi-Cheng, Chasman, Daniel, Chavan, Sameer, Chen, Bo-Juen, Chen, Wei-Min, Ida Chen, Yii-Der, Cho, Michael, Choi, Seung Hoan, Chuang, Lee-Ming, Chung, Mina, Chung, Ren-Hua, Clish, Clary, Comhair, Suzy, Conomos, Matthew, Cornell, Elaine, Correa, Adolfo, Crandall, Carolyn, Crapo, James, Cupples, L. Adrienne, Curran, Joanne, Curtis, Jeffrey, Custer, Brian, Damcott, Coleen, Darbar, Dawood, David, Sean, Davis, Colleen, Daya, Michelle, de Andrade, Mariza, de las Fuentes, Lisa, de Vries, Paul, DeBaun, Michael, Deka, Ranjan, DeMeo, Dawn, Devine, Scott, Dinh, Huyen, Doddapaneni, Harsha, Duan, Qing, Dugan-Perez, Shannon, Duggirala, Ravi, Durda, Jon Peter, Dutcher, Susan K., Eaton, Charles, Ekunwe, Lynette, El Boueiz, Adel, Ellinor, Patrick, Emery, Leslie, Erzurum, Serpil, Farber, Charles, Farek, Jesse, Fingerlin, Tasha, Flickinger, Matthew, Fornage, Myriam, Franceschini, Nora, Frazar, Chris, Fu, Mao, Fullerton, Stephanie M., Fulton, Lucinda, Gabriel, Stacey, Gan, Weiniu, Gao, Shanshan, Gao, Yan, Gass, Margery, Geiger, Heather, Gelb, Bruce, Geraci, Mark, Germer, Soren, Gerszten, Robert, Ghosh, Auyon, Gibbs, Richard, Gignoux, Chris, Gladwin, Mark, Glahn, David, Gogarten, Stephanie, Gong, Da-Wei, Goring, Harald, Graw, Sharon, Gray, Kathryn J., Grine, Daniel, Gross, Colin, Gu, C. Charles, Guan, Yue, Guo, Xiuqing, Gupta, Namrata, Haessler, Jeff, Hall, Michael, Han, Yi, Hanly, Patrick, Harris, Daniel, Hawley, Nicola L., He, Jiang, Heavner, Ben, Heckbert, Susan, Hernandez, Ryan, Herrington, David, Hersh, Craig, Hidalgo, Bertha, Hixson, James, Hobbs, Brian, Hokanson, John, Hong, Elliott, Hoth, Karin, Hsiung, Chao (Agnes), Hu, Jianhong, Hung, Yi-Jen, Huston, Haley, Hwu, Chii Min, Irvin, Marguerite Ryan, Jackson, Rebecca, Jain, Deepti, Jaquish, Cashell, Johnsen, Jill, Johnson, Andrew, Johnson, Craig, Johnston, Rich, Jones, Kimberly, Kang, Hyun Min, Kaplan, Robert, Kardia, Sharon, Kelly, Shannon, Kenny, Eimear, Kessler, Michael, Khan, Alyna, Khan, Ziad, Kim, Wonji, Kimoff, John, Kinney, Greg, Konkle, Barbara, Kooperberg, Charles, Kramer, Holly, Lange, Christoph, Lange, Ethan, Lange, Leslie, Laurie, Cathy, Laurie, Cecelia, LeBoff, Meryl, Lee, Jiwon, Lee, Sandra, Lee, Wen-Jane, LeFaive, Jonathon, Levine, David, Levy, Dan, Lewis, Joshua, Li, Xiaohui, Li, Yun, Lin, Henry, Lin, Honghuang, Lin, Xihong, Liu, Simin, Liu, Yongmei, Liu, Yu, Loos, Ruth J. F., Lubitz, Steven, Lunetta, Kathryn, Luo, James, Magalang, Ulysses, Mahaney, Michael, Make, Barry, Manichaikul, Ani, Manning, Alisa, Manson, JoAnn, Martin, Lisa, Marton, Melissa, Mathai, Susan, Mathias, Rasika, May, Susanne, McArdle, Patrick, McDonald, Merry-Lynn, McFarland, Sean, McGarvey, Stephen, McGoldrick, Daniel, McHugh, Caitlin, McNeil, Becky, Mei, Hao, Meigs, James, Menon, Vipin, Mestroni, Luisa, Metcalf, Ginger, Meyers, Deborah A, Mignot, Emmanuel, Mikulla, Julie, Min, Nancy, Minear, Mollie, Minster, Ryan L, Mitchell, Braxton D., Moll, Matt, Momin, Zeineen, Montasser, May E., Montgomery, Courtney, Muzny, Donna, Mychaleckyj, Josyf C, Nadkarni, Girish, Naik, Rakhi, Naseri, Take, Natarajan, Pradeep, Nekhai, Sergei, Nelson, Sarah C., Neltner, Bonnie, Nessner, Caitlin, Nickerson, Deborah, Nkechinyere, Osuji, North, Kari, O'Connell, Jeff, O'Connor, Tim, Ochs-Balcom, Heather, Okwuonu, Geoffrey, Pack, Allan, Paik, David T., Palmer, Nicholette, Pankow, James, Papanicolaou, George, Parker, Cora, Peloso, Gina, Peralta, Juan Manuel, Perez, Marco, Perry, James, Peters, Ulrike, Peyser, Patricia, Phillips, Lawrence S, Pleiness, Jacob, Pollin, Toni, Post, Wendy, Becker, Julia Powers, Boorgula, Meher Preethi, Preuss, Michael, Psaty, Bruce, Qasba, Pankaj, Qiao, Dandi, Qin, Zhaohui, Rafaels, Nicholas, Raffield, Laura, Rajendran, Mahitha, Ramachandran, Vasan S., Rao, D. C., Rasmussen-Torvik, Laura, Ratan, Aakrosh, Redline, Susan, Reed, Robert, Reeves, Catherine, Regan, Elizabeth, Reiner, Alex, Reupena, Muagututi‘a Sefuiva, Rice, Ken, Rich, Stephen, Robillard, Rebecca, Robine, Nicolas, Roden, Dan, Roselli, Carolina, Rotter, Jerome, Ruczinski, Ingo, Runnels, Alexi, Russell, Pamela, Ruuska, Sarah, Ryan, Kathleen, Sabino, Ester Cerdeira, Saleheen, Danish, Salimi, Shabnam, Salvi, Sejal, Salzberg, Steven, Sandow, Kevin, Sankaran, Vijay G., Santibanez, Jireh, Schwander, Karen, Schwartz, David, Sciurba, Frank, Seidman, Christine, Seidman, Jonathan, Sériès, Frédéric, Sheehan, Vivien, Sherman, Stephanie L., Shetty, Amol, Shetty, Aniket, Hui-Heng Sheu, Wayne, Shoemaker, M. Benjamin, Silver, Brian, Silverman, Edwin, Skomro, Robert, Smith, Albert Vernon, Smith, Jennifer, Smith, Josh, Smith, Nicholas, Smith, Tanja, Smoller, Sylvia, Snively, Beverly, Snyder, Michael, Sofer, Tamar, Sotoodehnia, Nona, Stilp, Adrienne M., Storm, Garrett, Streeten, Elizabeth, Su, Jessica Lasky, Sung, Yun Ju, Sylvia, Jody, Szpiro, Adam, Taliun, Daniel, Tang, Hua, Taub, Margaret, Taylor, Kent D., Taylor, Matthew, Taylor, Simeon, Telen, Marilyn, Thornton, Timothy A., Threlkeld, Machiko, Tinker, Lesley, Tirschwell, David, Tishkoff, Sarah, Tiwari, Hemant, Tong, Catherine, Tracy, Russell, Tsai, Michael, Vaidya, Dhananjay, Van Den Berg, David, VandeHaar, Peter, Vrieze, Scott, Walker, Tarik, Wallace, Robert, Walts, Avram, Wang, Fei Fei, Wang, Heming, Wang, Jiongming, Watson, Karol, Watt, Jennifer, Weeks, Daniel E., Weinstock, Joshua, Weir, Bruce, Weiss, Scott T, Weng, Lu-Chen, Wessel, Jennifer, Willer, Cristen, Williams, Kayleen, Williams, L. Keoki, Wilson, Carla, Wilson, James, Winterkorn, Lara, Wong, Quenna, Wu, Joseph, Xu, Huichun, Yanek, Lisa, Yang, Ivana, Yu, Ketian, Zekavat, Seyedeh Maryam, Zhang, Yingze, Zhao, Snow Xueyan, Zhao, Wei, Zhu, Xiaofeng, Ziv, Elad, Zody, Michael, Zoellner, Sebastian, Lindstrom, Sara, Wang, Lu, Smith, Erin N., Gordon, William, van Hylckama Vlieg, Astrid, de Andrade, Mariza, Brody, Jennifer A., Pattee, Jack W., Haessler, Jeffrey, Brumpton, Ben M., Chasman, Daniel I., Suchon, Pierre, Chen, Ming-Huei, Turman, Constance, Germain, Marine, Wiggins, Kerri L., MacDonald, James, Braekkan, Sigrid K., Armasu, Sebastian M., Pankratz, Nathan, Jackson, Rabecca D., Nielsen, Jonas B., Giulianini, Franco, Puurunen, Marja K., Ibrahim, Manal, Heckbert, Susan R., Bammler, Theo K., Frazer, Kelly A., McCauley, Bryan M., Taylor, Kent, Pankow, James S., Reiner, Alexander P., Gabrielsen, Maiken E., Deleuze, Jean-François, O'Donnell, Chris J., Kim, Jihye, McKnight, Barbara, Kraft, Peter, Hansen, John-Bjarne, Rosendaal, Frits R., Heit, John A., Psaty, Bruce M., Tang, Weihong, Kooperberg, Charles, Hveem, Kristian, Ridker, Paul M., Morange, Pierre-Emmanuel, Johnson, Andrew D., Kabrhel, Christopher, AlexandreTrégouët, David, Smith, Nicholas L., Mitchell, Braxton D., Ben-Shlomo, Yoav, Fornage, Myriam, Hayward, Caroline, Mathias, Rasika A., Kilpeläinen, Tuomas O., Lange, Leslie A., Cox, Simon R., März, Winfried, Morange, Pierre-Emmanuel, Rotter, Jerome I., Mook-Kanamori, Dennis O., Wilson, James F., van der Harst, Pim, Jukema, J. Wouter, Ikram, M. Arfan, Blangero, John, Kooperberg, Charles, Desch, Karl C., Johnson, Andrew D., Sabater-Lleal, Maria, Lowenstein, Charles J., Smith, Nicholas L., and Morrison, Alanna C.

Abstract

•We identified 7 new genetic regions for factor VIII levels, 1 for von Willebrand factor levels, and 3 in a combined analysis.•Silencing B3GNT2and CD36reduced factor VIII release in vitro.Silencing B3GNT2, CD36, and PDIA3reduced von Willebrand factor release.

Published
2024
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25. Ultrasound arterial anomalies in patients exposed to nilotinib therapy for chronic myeloid leukemia

Author

Sarlon-Bartoli, G., Michel, Q., Sarlon, E., Carcopino-Tusoli, M., Suchon, P., Soler, R., Bartoli, M.A., Brunet, D., Morange, P., and Charbonnier, A.

Abstract

Patients exposed to nilotinib for chronic myeloid leukemia (CML) appear to be at risk of arterial complication. The prevalence and aspect of ultrasound asymptomatic arterial lesions are unknown.

Published
2021
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26. Should we prevent thrombosis related to intravenous immunoglobulin infusions with systematic anticoagulant prophylaxis?

Author

Arcani, R., Grapperon, A.-M., Venton, G., Suchon, P., Verschueren, A., Bas, J., Salort-Campana, E., Attarian, S., and Delmont, E.

Abstract

Intravenous immunoglobulins (IVIg) are commonly used for treatment of dysimmune diseases, but they are known to promote thrombotic events. The medical records of patients who received IVIg infusions to treat neuromuscular disorders were retrospectively studied during two periods: the on-demand period (May 2013–January 2015), when patients received anticoagulant prophylaxis based on personal thrombotic risk factors, and the systematic period (May 2015–January 2017), when patients received systematic anticoagulant prophylaxis. Of the 334 total patients included, 19/153 received anticoagulant prophylaxis in the on-demand period, and 181 were treated in the systematic period. In the on-demand period, thrombosis occurred in three patients (1.96%) as one central retinal artery occlusion, one pulmonary embolism, and one brachiocephalic vein thrombosis. In the systematic period, thrombosis occurred in two patients (1.1%), both as pulmonary embolisms. There was no statistical difference in thrombosis incidence between the periods (P=0.66). The only factor associated with thrombosis was splenectomy (20% versus 0.3% in patients without thrombosis, P=0.03). There were no adverse events due to thromboprophylaxis by low-molecular-weight heparin in either period. Systematic thromboprophylaxis did not significantly reduce the incidence of thrombosis versus thromboprophylaxis based on personal thrombotic risk.

Published
2021
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28. Descriptive study of the general practitioners’ perception of direct oral anticoagulants and the risk of genital bleeding in women of childbearing age

Author

Paoletti, E., Rezkallah, S., El Harake, S., Castelli, M., Benresdouane, Y., Brunet, D., Suchon, P., Morange, P., and Sarlon-Bartoli, G.

Abstract

Direct oral anticoagulants (DOA) tend to replace antivitamins K (VKA). The incidence of major and minor hemorrhages is higher in women, a difference potentially linked to genital hemorrhages. The objective is to assess the practices and perception of general practitioners of the use of oral anticoagulant therapy in women of childbearing age.

Published
2020
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29. Bayesian network analysis of plasma microRNA sequencing data in patients with venous thrombosis

Author

Thibord, Florian, Munsch, Gaëlle, Perret, Claire, Suchon, Pierre, Roux, Maguelonne, Ibrahim-Kosta, Manal, Goumidi, Louisa, Deleuze, Jean-François, Morange, Pierre-Emmanuel, and Trégouët, David-Alexandre

Abstract

MicroRNAs (miRNAs) are small regulatory RNAs participating to several biological processes and known to be involved in various pathologies. Measurable in body fluids, miRNAs have been proposed to serve as efficient biomarkers for diseases and/or associated traits. Here, we performed a next-generation-sequencing based profiling of plasma miRNAs in 344 patients with venous thrombosis (VT) and assessed the association of plasma miRNA levels with several haemostatic traits and the risk of VT recurrence. Among the most significant findings, we detected an association between hsa-miR-199b-3p and haematocrit levels (P= 0.0016), these two markers having both been independently reported to associate with VT risk. We also observed suggestive evidence for association of hsa-miR-370-3p (P= 0.019), hsa-miR-27b-3p (P= 0.016) and hsa-miR-222-3p (P= 0.049) with VT recurrence, the observations at the latter two miRNAs confirming the recent findings of Wang et al. Besides, by conducting Genome-Wide Association Studies on miRNA levels and meta-analyzing our results with some publicly available, we identified 21 new associations of single nucleotide polymorphisms with plasma miRNA levels at the statistical significance threshold of P< 5 × 10−8, some of these associations pertaining to thrombosis associated mechanisms. In conclusion, this study provides novel data about the impact of miRNAs’ variability in haemostasis and new arguments supporting the association of few miRNAs with the risk of recurrence in patients with venous thrombosis.

Published
2020
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30. Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism

Author

Lindström, Sara, Wang, Lu, Smith, Erin N., Gordon, William, van Hylckama Vlieg, Astrid, de Andrade, Mariza, Brody, Jennifer A., Pattee, Jack W., Haessler, Jeffrey, Brumpton, Ben M., Chasman, Daniel I., Suchon, Pierre, Chen, Ming-Huei, Turman, Constance, Germain, Marine, Wiggins, Kerri L., MacDonald, James, Braekkan, Sigrid K., Armasu, Sebastian M., Pankratz, Nathan, Jackson, Rebecca D., Nielsen, Jonas B., Giulianini, Franco, Puurunen, Marja K., Ibrahim, Manal, Heckbert, Susan R., Damrauer, Scott M., Natarajan, Pradeep, Klarin, Derek, de Vries, Paul S., Sabater-Lleal, Maria, Huffman, Jennifer E., Bammler, Theo K., Frazer, Kelly A., McCauley, Bryan M., Taylor, Kent, Pankow, James S., Reiner, Alexander P., Gabrielsen, Maiken E., Deleuze, Jean-François, O'Donnell, Chris J., Kim, Jihye, McKnight, Barbara, Kraft, Peter, Hansen, John-Bjarne, Rosendaal, Frits R., Heit, John A., Psaty, Bruce M., Tang, Weihong, Kooperberg, Charles, Hveem, Kristian, Ridker, Paul M., Morange, Pierre-Emmanuel, Johnson, Andrew D., Kabrhel, Christopher, Trégouët, David-Alexandre, and Smith, Nicholas L.

Abstract

Venous thromboembolism (VTE) is a significant contributor to morbidity and mortality. To advance our understanding of the biology contributing to VTE, we conducted a genome-wide association study (GWAS) of VTE and a transcriptome-wide association study (TWAS) based on imputed gene expression from whole blood and liver. We meta-analyzed GWAS data from 18 studies for 30?234 VTE cases and 172?122 controls and assessed the association between 12?923?718 genetic variants and VTE. We generated variant prediction scores of gene expression from whole blood and liver tissue and assessed them for association with VTE. Mendelian randomization analyses were conducted for traits genetically associated with novel VTE loci. We identified 34 independent genetic signals for VTE risk from GWAS meta-analysis, of which 14 are newly reported associations. This included 11 newly associated genetic loci (C1orf198, PLEK, OSMR-AS1, NUGGC/SCARA5, GRK5, MPHOSPH9, ARID4A, PLCG2, SMG6, EIF5A, and STX10) of which 6 replicated, and 3 new independent signals in 3 known genes. Further, TWAS identified 5 additional genetic loci with imputed gene expression levels differing between cases and controls in whole blood (SH2B3, SPSB1, RP11-747H7.3, RP4-737E23.2) and in liver (ERAP1). At some GWAS loci, we found suggestive evidence that the VTE association signal for novel and previously known regions colocalized with expression quantitative trait locus signals. Mendelian randomization analyses suggested that blood traits may contribute to the underlying risk of VTE. To conclude, we identified 16 novel susceptibility loci for VTE; for some loci, the association signals are likely mediated through gene expression of nearby genes.

Published
2019
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31. High risk of long-term recurrence after a first episode of venous thromboembolism during pregnancy or postpartum: the REcurrence after a PrEgnAncy related Thrombosis (REPEAT) Study

Author

Ibrahim-Kosta, Manal, El Harake, Sarah, Leclercq, Barbara, De Mari, Céline, Secondi, Jean-François, Paoletti, Emilie, Suchon, Pierre, Benredouane, Yasmine, Brunet, Dominique, Barthet, Marie-Christine, Bruzelius, Maria, Munsch, Gaëlle, Trégouët, David-Alexandre, Morange, Pierre-Emmanuel, Goumidi, Louisa, and Sarlon-Bartoli, Gabrielle

Abstract

Long term-recurrence risk following a pregnancy associated venous thromboembolism (VTE) is sparsely assessed.

Published
2024
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32. Clinical outcomes after discontinuing anticoagulant therapy in patients with first unprovoked venous thromboembolism

Author

Gabara, Cristina, Aibar, Jesus, Nishimoto, Yuji, Yamashita, Yugo, Prandoni, Paolo, Barnes, Geoffrey D., Bikdeli, Behnood, Jiménez, David, Demelo-Rodríguez, Pablo, Peris, Ma Luisa, Nguyen, Son Truong, Monreal, Manuel, Agudo, P., Aibar, J., Alberich-Conesa, A., Alda-Lozano, A., Alfonso, J., Amado, C., Angelina-García, M., Arcelus, J.I., Ballaz, A., Barba, R., Barbagelata, C., Barreiro, B., Barrón, M., Barrón-Andrés, B., Bascuñana, J., Beddar-Chaib, F., Blanco-Molina, A., Caballero, J.C., Cañas, I., Castellanos, G., Chasco, L., Claver, G., Criado, J., De Juana-Izquierdo, C., Del Toro, J., Demelo-Rodríguez, P., Díaz-Pedroche, M.C., Díaz-Peromingo, J.A., Dubois-Silva, A., Escribano, J.C., Falgá, C., Fernández-Aracil, C., Fernández-Capitán, C., Fernández-Jiménez, B., Fernández-Reyes, J.L., Fidalgo, M.A., Francisco, I., Gabara, C., Galeano-Valle, F., García-Bragado, F., García-Ortega, A., Gavín-Sebastián, O., Gil-Díaz, A., Gómez-Cuervo, C., González-Munera, A., Grau, E., Guirado, L., Gutiérrez-Guisado, J., Hernández-Blasco, L., Hernández-Molina, A., Hernández-Vidal, M.J., Jara-Palomares, L., Jiménez, D., Jou, I., Joya, M.D., Lalueza, A., Lecumberri, R., Llamas, P., Lobo, J.L., López-Brull, H., López-De la Fuente, M., López-Jiménez, L., López-Miguel, P., López-Núñez, J.J., López-Ruiz, A., López-Sáez, J.B., Lorente, M.A., Lorenzo, A., Lumbierres, M., Madridano, O., Maestre, A., Marchena, P.J., Marcos, M., Martín del Pozo, M., Martín-Martos, F., Martínez-Prado, R., Maza, J.M., Mercado, M.I., Moisés, J., Molino, A., Monreal, M., Monzón, L., Morales, M.V., Muñoz-Gamito, G., Navas, M.S., Nieto, J.A., Núñez-Fernández, M.J., Olid, M., Ordieres-Ortega, L., Ortiz, M., Osorio, J., Otálora, S., Otero, R., Pacheco-Gómez, N., Pagán, J., Palomeque, A.C., Paredes, E., Parra-Rosado, P., Pedrajas, J.M., Pérez-Ductor, C., Pérez-Pinar, M., Peris, M.L., Pesce, M.L., Porras, J.A., Puchades, R., Rivas, A., Rivera-Cívico, F., Rivera-Gallego, A., Rodríguez-Cobo, A., Romero-Bruguera, M., Ruiz-Artacho, P., Salgueiro, G., Sancho, T., Sendín, V., Sigüenza, P., Soler, S., Steinherr, A., Suárez-Fernández, S., Tirado, R., Torrents-Vilar, A., Torres, M.I., Trujillo-Santos, J., Uresandi, F., Valle, R., Varona, J.F., Villalobos, A., Villares, P., Ay, C., Nopp, S., Pabinger, I., Vanassche, T., Verhamme, P., Verstraete, A., Yoo, H.H.B., Montenegro, A.C., Morales, S.N., Roa, J., Hirmerova, J., Malý, R., Varhaník, F., Bertoletti, L., Bura-Riviere, A., Catella, J., Chopard, R., Couturaud, F., Espitia, O., Le Mao, R., Leclerq, B., Mahé, I., Moustafa, F., Plaisance, L., Sarlon-Bartoli, G., Suchon, P., Versini, E., Schellong, S., Brenner, B., Dally, N., Kenet, G., Tzoran, I., Rashidi, F., Sadeghipour, P., Tahmasbi, F., Abenante, A., Barillari, G., Bilora, F., Bissacco, D., Brandolin, B., Casana, R., Ciammaichella, M., Colaizzo, D., Dentali, F., Di Micco, P., Giorgi-Pierfranceschi, M., Grandone, E., Imbalzano, E., Lambertenghi-Deliliers, D., Martini, R., Meschi, T., Negro, F., Poz, A., Prandoni, P., Simioni, P., Siniscalchi, C., Taflaj, B., Ticinesi, A., Tufano, A., Visonà, A., Zalunardo, B., Kalnina, P., Kigitovica, D., Skride, A., Zicans, M., Nishimoto, Y., Yamashita, Y., Tazi-Mezalek, Z., Fonseca, S., Marques, R., Meireles, J., Pinto, S., Bosevski, M., Zdraveska, M., Bounameaux, H., Mazzolai, L., Aujayeb, A., Bikdeli, B., Caprini, J.A., Khalil, A., Tafur, J., Weinberg, I., Bui, H.M., Nguyen, S.T., Pham, K.Q., and Tran, G.B.

Abstract

The duration of anticoagulation for a first episode of unprovoked venous thromboembolism (VTE) should balance the likelihood of VTE recurrence against the risk of major bleeding.

Published
2024
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33. Genome-Wide Investigation of Exogenous Female Hormones, Genetic Variation, and Venous Thromboembolism Risk

Author

Hasser, Emily K., Brody, Jennifer A., Bartz, Traci M., Thibord, Florian, Li-Gao, Ruifang, Kauko, Anni, Wiggins, Kerri L., Teder-Laving, Maris, Kim, Jihye, Munsch, Gaëlle, Haile, Helen G., Deleuze, Jean-Francois, van Hylckama Vlieg, Astrid, Wolberg, Alisa S., Boland, Anne, Morange, Pierre-Emmanuel, Kraft, Peter, Lowenstein, Charles J., Emmerich, Joseph, Sitlani, Colleen M., Suchon, Pierre, Rosendaal, Frits R., Niiranen, Teemu, Kabrhel, Christopher, Trégouët, David-Alexandre, and Smith, Nicholas L.

Abstract

Increased risk of venous thromboembolism (VTE) is a life-threatening side effect for users of oral contraceptives (OCs) or hormone therapy (HT).

Published
2024
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34. OPTIMIR, a novel algorithm for integrating available genome-wide genotype data into miRNA sequence alignment analysis

Author

Thibord, Florian, Perret, Claire, Roux, Maguelonne, Suchon, Pierre, Germain, Marine, Deleuze, Jean-Francois, Morange, Pierre-Emmanuel, and Trégoue¨t, David-Alexandre

Abstract

Next-generation sequencing is an increasingly popular and efficient approach to characterize the full set of microRNAs (miRNAs) present in human biosamples. MiRNAs’ detection and quantification still remain a challenge as they can undergo different posttranscriptional modifications and might harbor genetic variations (polymiRs) that may impact on the alignment step. We present a novel algorithm, OPTIMIR, that incorporates biological knowledge on miRNA editing and genome-wide genotype data available in the processed samples to improve alignment accuracy. OPTIMIR was applied to 391 human plasma samples that had been typed with genome-wide genotyping arrays. OPTIMIR was able to detect genotyping errors, suggested the existence of novel miRNAs and highlighted the allelic imbalance expression of polymiRs in heterozygous carriers. OPTIMIR is written in python, and freely available on the GENMED website (http://www.genmed.fr/index.php/fr/) and on Github (github.com/FlorianThibord/OptimiR).

Published
2019
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36. Targeted sequencing to identify novel genetic risk factors for deep vein thrombosis: a study of 734 genes

Author

de Haan, H.G., van Hylckama Vlieg, A., Lotta, L.A., Gorski, M.M., Bucciarelli, P., Martinelli, I., Baglin, T.P., Peyvandi, F., Rosendaal, F.R., Amouyel, P., de Andrade, M., Basu, S., Berr, C., Brody, J.A., Chasman, D. I, Dartigues, J.‐F., Folsom, A.R., Germain, M., Heit, J., Houwing‐Duitermaat, J., Kabrhel, C., Kraft, P., Le Gal, G., Lindström, S., Monajemi, R., Morange, P.‐E., Psaty, B.M., Reitsma, P.H., Ridker, P.M., Rose, L.M., Saut, N., Slagboom, E., Smadja, D., Smith, N.L., Suchon, P., Tang, W., Taylor, K.D., Trégouët, D.‐A., Tzourio, C., de Visser, M.C.H., Weng, L.‐C., and Wiggins, K.L.

Abstract

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Published
2018
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37. Anomalías constitucionales de la coagulación que predisponen a la trombosis venosa

Author

Suchon, P., Ibrahim, M., and Morange, P.-E.

Abstract

La trombosis venosa es una patología compleja que se debe a la interacción entre factores genéticos y factores ambientales. Entre los factores genéticos de riesgo, hay cinco anomalías constitucionales de la hemostasia que suelen identificarse y buscarse en un estudio de trombofilia: los déficits de antitrombina, proteína C y proteína S, así como dos mutaciones (factor V Leiden y mutación G20210A del gen de la protrombina). La trombosis venosa tiene un fuerte componente de heredabilidad, pues alcanza casi el 60%, pero estas cinco anomalías no permiten explicar más que una pequeña parte de esta heredabilidad. En los 10 últimos años, se han multiplicado los enfoques y los estudios genéticos para la identificación de nuevos marcadores genéticos de riesgo. También se han identificado muchos polimorfismos asociados a la trombosis venosa. En comparación con las anomalías del estudio de una trombofilia, estos polimorfismos confieren un incremento moderado del riesgo de trombosis venosa, pero su frecuencia es muy elevada en la población general.

Published
2018
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43. Risque hémorragique et cycle féminin

Author

Sarlon, Gabrielle, El Harake, Sarah, Suchon, Pierre, and Morange, Pierre

Abstract

Trente pour cent des femmes en âge de procréer rapportent des règles abondantes. Les essais thérapeutiques sur les AOD ont fait ressortir un sur-risque hémorragique chez la femme, potentiellement en lien avec les méno-métrorragies. La définition des hémorragies génitales est variable et les échelles de qualité de vie non spécifiques. Deux questions simples peuvent être posées pour dépister les femmes à risque et sensibiliser les médecins à cette problématique : « vous changez vous plus de dix fois par jour ? » et « vos règles durent elles plus de 7jours ? ». Les résultats des essais sur le taux d’hémorragies génitales sous AOD sont variables : environ 10–15 % sous AVK et apixaban, et environ 15-30 % sous rivaroxaban. Les étapes sont : dépister des méno-métrorragies avant le traitement anticoagulant puis pendant, adresser vers un gynécologue pour le bilan organique, savoir proposer une contraception progestative voire œstro-progestative sous couverture anticoagulante, utiliser l’acide tranexamique, voire proposer une chirurgie. Le dépistage de la carence ferrique et de l’anémie est primordial pour ensuite supplémenter par voie orale ou veineuse. En conclusion, les hémorragies génitales, notamment sous anticoagulant, sont un tabou qu’il faut savoir dépister, un suivi clinique régulier et biologique avec numération et bilan ferrique est proposé.

Published
2022
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44. DNA methylation analysis is used to identify novel genetic loci associated with circulating fibrinogen levels in blood

Author

Hahn, Julie, Bressler, Jan, Domingo-Relloso, Arce, Chen, Ming-Huei, McCartney, Daniel L., Teumer, Alexander, van Dongen, Jenny, Kleber, Marcus E., Aïssi, Dylan, Swenson, Brenton R., Yao, Jie, Zhao, Wei, Huang, Jian, Xia, Yujing, Brown, Michael R., Costeira, Ricardo, de Geus, Eco J.C., Delgado, Graciela E., Dobson, Dre'Von A., Elliott, Paul, Grabe, Hans J., Guo, Xiuqing, Harris, Sarah E., Huffman, Jennifer E., Kardia, Sharon L.R., Liu, Yongmei, Lorkowski, Stefan, Marioni, Riccardo E., Nauck, Matthias, Ratliff, Scott M., Sabater-Lleal, Maria, Spector, Tim D., Suchon, Pierre, Taylor, Kent D., Thibord, Florian, Trégouët, David-Alexandre, Wiggins, Kerri L., Willemsen, Gonneke, Bell, Jordana T., Boomsma, Dorret I., Cole, Shelley A., Cox, Simon R., Dehghan, Abbas, Greinacher, Andreas, Haack, Karin, März, Winfried, Morange, Pierre-Emmanuel, Rotter, Jerome I., Sotoodehnia, Nona, Tellez-Plaza, Maria, Navas-Acien, Ana, Smith, Jennifer A., Johnson, Andrew D., Fornage, Myriam, Smith, Nicholas L., Wolberg, Alisa S., Morrison, Alanna C., and de Vries, Paul S.

Abstract

Fibrinogen plays an essential role in blood coagulation and inflammation. Circulating fibrinogen levels may be determined based on interindividual differences in DNA methylation at cytosine-phosphate-guanine (CpG) sites and vice versa.

Published
2023
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48. Heart structure and function in patients with generalized autoimmune diseases: echocardiography with tissue Doppler study

Author

Lazak, Wojciech, Kopec, Grzegorz, Tomkiewicz-Pajak, Lidia, Rubis, Pawel, Dziedzic, Hanna, Suchon, Elzbieta, Kostkiewicz, Magdalena, Olszowska, Maria, Musial, Jacek, and Podolec, Piotr

Abstract

ObjectiveHeart pathology strongly infl uences the course and prognosis of patients with generalized autoimmune diseases. In spite of autoimmunity being a common denominator of these diseases, systemic sclerosis (SSc), systemic lupus erythematosus (SLE) and dermato/polymyositis (DPM) diff er signifi cantly in the pathogenesis of organ damage. The aim of the study was to compare pathologic changes in heart structure and function in these diseases by means of standard echocardiography and tissue Doppler (TDE).Material and methodsFour groups were examined: 60 SSc, 60 SLE and 15 DPM patients in stable clinical conditions and 30 healthy control subjects. Echocardiography with TDE was performed with the assessment of systolic (S) and diastolic (E) velocities of mitral and tricuspid annuli.ResultsHeart in SSc was characterized by signifi cant diastolic left ventricular dysfunction (mitral E 8.61 ± 2.3 cm/s vs. 12.4 ± 3.5 cm/s in the control group; P< 0.01) with preserved systolic function (mitral S 7.85 ± 1.5 cm/s vs. 7.95 ± 0.9 cm/s in control group; ns). SLE and DPM resulted mainly in pathologic thickening of valvular leafl ets and/or pericardium [mitral or aortic leafl ets thickened in 38 (63.3%) of SLE patients, 7 (46.7%) of DPM patients; pericardium thickened in 36 (60%) of SLE patients]. Pulmonary capillary wedge pressure was elevated in SSc (13.8 ± 3.5 mmHg) and DPM (13.2 ± 2.5 mmHg) patients, as compared to the control group (9.2 ± 3.7 mmHg, P< 0.01). Right ventricular systolic and diastolic dysfunction was frequent irrespective of the presence or absence of pulmonary hypertension.ConclusionsEchocardiography with TDE reveals characteristic pathology in diff erent forms of generalized autoimmune diseases refl ecting their diff erent pathogenetic mechanisms. Overproduction of collagen in SSc results in diastolic left ventricular dysfunction, while generalized infl ammation in SLE and DPM leads mainly to pathologic changes on valvular leafl ets and/or pericardium. Interestingly, right ventricular dysfunction is common in all diseases analyzed, regardless of the presence of pulmonary hypertension. Echocardiography, preferably with TDE, could add valuable information about usually asymptomatic heart pathology in an individual patient with generalized autoimmune disease.

Published
2011
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49. Geotechnical analysis and 4D GPR measurements for the assessment of the risk of sinkholes occurring in a Polish mining area

Author

Marcak, Henryk, Golebiowski, Tomislaw, and Tomecka‐Suchon, Sylwia

Abstract

The study presented in this paper concerns georadar investigations at a selected former coal mining site in Upper Silesia (Poland) where the risk of sinkhole appearance is high. The results of 3D GPR surveys obtained in three measurement sessions in December 1997, October 2006 and March 2007 were interpreted. The 4D interpretation, i.e., a time‐space analysis, allowed for the identification of loose zones in the ground and fractured zones of the rock mass, which might be a source of sinkhole creation. After the first measurement session, on the basis of the GPR survey results, a dangerous, fractured zone in the ground was localized. This zone was confirmed by a borehole. Between the second and third sessions, a large sinkhole appeared on site, as predicted on the basis of georadar investigations. The geomechanical analyses presented in this paper explain the development of the fractured zones over the earlier mining excavations. Such zones accumulate water and high contrasts of dielectrical permittivity appear, allowing the use of the GPR method for the location of these zones.

Published
2008
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50. Atrial septal defect in adults: echocardiography and cardiopulmonary exercise capacity associated with hemodynamics before and after surgical closure.

Author

Suchon, Elzbieta, Tracz, Wieslawa, Podolec, Piotr, and Sadowski, Jerzy

Abstract

The study aimed to evaluate pre and postoperative echocardiographic data and exercise capacity in relation to age and hemodynamics in adults with atrial septal defect (ASD). Fifty-two subjects with ASD (mean age: 38.6+/-15 years) were enrolled. Echocardiography and cardiopulmonary exercise test were performed before and a year after surgery. Pre and postoperative data were analyzed for the entire group and then compared in terms of age: <40 and >or=40 years, right ventricular systolic pressure (RVSP): 30 mmHg and pulmonary to systemic flow ratio (Qp/Qs): <2.5 and >or=2.5. After surgery right ventricle dimension decreased in all patients, although it remained significantly larger in patients over 40 years. There was a negative correlation between peak oxygen uptake and preoperative RVSP (r=-0.69, P<0.001). Exercise capacity improved irrespective of the age at surgery, preoperative RVSP and Qp/Qs, although it failed to normalize in patients with RVSP >30 mmHg. Adults with ASD benefit from surgical closure irrespective of the actual age at surgery. Patient's age at surgery and pulmonary hypertension crucially impact the results of surgical intervention. Early defect correction is therefore highly recommendable, specifically with a view to preventing the hemodynamic consequences of ASD.

Published
2005
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