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1. Governance of knowledge and innovation in the Ibero-American agri-food system

Author

Jose-Maria Garcia-Alvarez-Coque, Eugenia Saini, Esther Esteban-Rodrigo, and Francisco Mas-Verdu

Subjects
agriculture and agri-food research, national institutes for agriculture and agri-food research, knowledge and innovation systems, r&d resources, thematic analysis, Agriculture
Abstract

Aim of study: Governance and the knowledge and innovation system (KIS) are interrelated concepts. Knowledge management best practices are linked to KIS performance. This article explores the governance of the leading research, development, and innovation institutes in Ibero-American agriculture, food, and agro-industry sector. The paper reports mapping of the governance of 20 agricultural research institutes. Area of study: Latin America and the Caribbean, Spain and Portugal. Material and methods: In total, 51 strategic objectives for effective governance were identified. Self-evaluation by the National Agricultural Research Institutes (NARIs) was validated at a workshop backed by FONTAGRO, a cooperation mechanism amongst Latin American and the Caribbean countries, Portugal and Spain, and the Ibero-American Network of NARIs. Main results: As a strength, the key dimension of NARIs appears to be coordination and cooperation. This result was acknowledged in the internal and external evaluations and supports previous research on the relevance of innovation networks in Latin America. By contrast, as a challenge, the key dimension appears to be demand articulation, followed closely by capacity building. Most of the institutes are also well-positioned to develop deeper ties with social and environmental challenges. Research highlights: In the medium and long term, NARIs should make efforts to improve the processes of organizational evaluation and learning, demand articulation, and strategic direction of the institutions. Improvement in management processes, in addition to best practices for social responsibility and gender equality, appear to be short-term priorities.

Published
2021
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2. Worldwide distribution of genetic factors related to severity of COVID-19 infection

Author

María Esther Esteban, Débora Pino, Alicia Romero-Lorca, Apolonia Novillo, María Gaibar, José A. Riancho, Augusto Rojas-Martínez, Carlos Flores, Pablo Lapunzina, Ángel Carracedo, Georgios Athanasiadis, and Ana Fernández-Santander

Subjects
SARS-CoV-2, GWAS, PRS distributions, linkage disequilibrium scores, Biology (General), QH301-705.5, Human anatomy, QM1-695, Physiology, QP1-981
Abstract

Background Genome-wide association studies of COVID-19 severity have been carried out mostly on European or East Asian populations with small representation of other world regions. Here we explore the worldwide distribution and linkage disequilibrium (LD) patterns of genetic variants previously associated with COVID-19 severity.Methods We followed up the results of a large Spanish genome-wide meta-analysis on 26 populations from the 1000 Genomes Project by calculating allele frequencies and LD scores of the nine most significant SNPs. We also used the entire set of summary statistics to compute polygenic risk scores (PRSs) and carried out comparisons at the population and continental level.Results We observed the strongest differences among continental regions for the five top SNPs in chromosome 3. European, American, and South Asian populations showed similar LD patterns. Average PRSs in South Asian and American populations were consistently higher than those observed in Europeans. While PRS distributions were similar among South Asians, the American populations showed striking differences among them.Conclusions Considering the caveats of PRS transferability across ethnicities, our analysis showed that American populations present the highest genetic risk score, hence potentially higher propensity, for COVID-19 severity. Independent validation is warranted with additional summary statistics and phenotype data.

Published
2024
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3. Research of the origin of a particular Tunisian group using a physical marker and Alu insertion polymorphisms

Author

Wifak El Moncer, Raoudha Bahri, Esther Esteban, Bouthaina Abdenni-Guenounou, Pedro Moral, Jemni Ben Chibani, and Hassen Chaabani

Subjects
Tunisian population, El Hamma group, skin color, Alu insertion polymorphisms, people movement history, Genetics, QH426-470
Abstract

The aim of this study was to show how, in some particular circumstances, a physical marker can be used along with molecular markers in the research of an ancient people movement. A set of five Alu insertions was analysed in 42 subjects from a particular Tunisian group (El Hamma) that has, unlike most of the Tunisian population, a very dark skin, similar to that of sub-Saharans, and in 114 Tunisian subjects (Gabes sample) from the same governorate, but outside the group. Our results showed that the El Hamma group is genetically midway between sub-Saharan populations and North Africans, whereas the Gabes sample is clustered among North Africans. In addition, The A25 Alu insertion, considered characteristic to sub-Saharan Africans, was present in the El Hamma group at a relatively high frequency. This frequency was similar to that found in sub-Saharans from Nigeria, but significantly different from those found in the Gabes sample and in other North African populations. Our molecular results, consistent with the skin color status, suggest a sub-Saharan origin of this particular Tunisian group.

Published
2011

4. Potential Signals of Natural Selection in the Top Risk Loci for Coronary Artery Disease: 9p21 and 10q11.

Author

Daniela Zanetti, Robert Carreras-Torres, Esther Esteban, Marc Via, and Pedro Moral

Subjects
Medicine, Science
Abstract

Coronary artery disease (CAD) is a complex disease and the leading cause of death in the world. Populations of different ancestry do not always share the same risk markers. Natural selective processes may be the cause of some of the population differences detected for specific risk mutations.In this study, 384 single nucleotide polymorphisms (SNPs) located in four genomic regions associated with CAD (1p13, 1q41, 9p21 and 10q11) are analysed in a set of 19 populations from Europe, Middle East and North Africa and also in Asian and African samples from the 1000 Genomes Project. The aim of this survey is to explore for the first time whether the genetic variability in these genomic regions is better explained by demography or by natural selection.The results indicate significant differences in the structure of genetic variation and in the LD patterns among populations that probably explain the population disparities found in markers of susceptibility to CAD.The results are consistent with potential signature of positive selection in the 9p21 region and of balancing selection in the 9p21 and 10q11. Specifically, in Europe three CAD risk markers in the 9p21 region (rs9632884, rs1537371 and rs1333042) show consistent signals of positive selection. The results of this study are consistent with a potential selective role of CAD in the configuration of genetic diversity in current human populations.

Published
2015
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5. Population variability in some genes involving the haemostatic system: data on the general population of Corsica (France), Sardinia and Sicily (Italy)

Author

Alessandra Falchi, Lucia Vacca, Antonio Lopez Alomar, Esther Esteban, Marc Memmi, Laurent Varesi, Pedro Moral, and Giuseppe Vona

Subjects
haemostatic genes, genetic markers, Mediterranean populations, Genetics, QH426-470
Abstract

Three different population samples from Corsica (France), Sardinia and Sicily (Italy) were studied using nine genetic markers. For the first time, allele distributions of FGA TaqI, FGB Bcl I, FGB Hind III, PAI-1 Hind III, PLAT TPA-25, GPIIIa Taq I, GPIIb I/D 9bp, FVII HVR4 and FVII -323 10 bp markers, which are thought to be associated with cardiovascular disease risk, were studied in the general population of the three islands. The frequencies of the markers analysed in the present work show some peculiarities: the locus FVII HVR4 is characterized by the presence of a rare allele (H5), found in Corsicans and in Sardinians; the locus FBG BcII shows a low frequency of the B1 allele and the absence of the B1B1 genotype. The frequencies of some alleles have a distribution that is in agreement with the low risk for cardiovascular diseases in south European countries. The results highlight a genetic differentiation between the three Mediterranean islands and the other European populations.

Published
2004
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6. Genetic risk score of NOS gene variants associated with myocardial infarction correlates with coronary incidence across Europe.

Author

Robert Carreras-Torres, Suman Kundu, Daniela Zanetti, Esther Esteban, Marc Via, and Pedro Moral

Subjects
Medicine, Science
Abstract

Coronary artery disease (CAD) mortality and morbidity is present in the European continent in a four-fold gradient across populations, from the South (Spain and France) with the lowest CAD mortality, towards the North (Finland and UK). This observed gradient has not been fully explained by classical or single genetic risk factors, resulting in some cases in the so called Southern European or Mediterranean paradox. Here we approached population genetic risk estimates using genetic risk scores (GRS) constructed with single nucleotide polymorphisms (SNP) from nitric oxide synthases (NOS) genes. These SNPs appeared to be associated with myocardial infarction (MI) in 2165 cases and 2153 controls. The GRSs were computed in 34 general European populations. Although the contribution of these GRS was lower than 1% between cases and controls, the mean GRS per population was positively correlated with coronary incidence explaining 65-85% of the variation among populations (67% in women and 86% in men). This large contribution to CAD incidence variation among populations might be a result of colinearity with several other common genetic and environmental factors. These results are not consistent with the cardiovascular Mediterranean paradox for genetics and support a CAD genetic architecture mainly based on combinations of common genetic polymorphisms. Population genetic risk scores is a promising approach in public health interventions to develop lifestyle programs and prevent intermediate risk factors in certain subpopulations with specific genetic predisposition.

Published
2014
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7. Living with food allergies: the experiences of adult patients and caregivers

Author

Alexandra F. Santos, Margitta Worm, Shoko Kurita, Tania Wong, Davide Contato, Elia Pirillo, A. Esther Esteban, Paolo Tassinari, Flavia Perna, and R. Sharon Chinthrajah

Subjects
anaphylaxis, disease life experience, interactive dialogue, mode of action (MOA), quality of life, Immunologic diseases. Allergy, RC581-607
Abstract

BackgroundFew studies have addressed how food allergy may impact differently on the daily lives of adults with food allergies and caregivers for food-allergic dependents.ObjectiveTo explore similarities and differences in life experiences and unmet needs between individuals caring for a child with food allergy and adults with food allergy world-wide.MethodsTwo multinational, virtual, interactive, moderated discussions of specific questions between respectively people with food allergies and caregivers for people with food allergies, with experienced clinicians participating.ResultsSixteen individuals living with food allergies and nine caregivers took part in the two roundtables. Food avoidance and antihistamines were the most common treatments for food-allergic reactions in both groups. Caregivers reported greater burden of disease on affected individuals and families than did adult patients. Adult panelists considered autoinjectors easy to use but caregivers reported additional emotional stress thinking about autoinjector use. Caregivers described an ever-present fear of inattention and of overlooking a risk factor for a severe reaction, whereas adult panelists showed a determination not to let their food allergies interfere with living their lives. Both groups had safety-conscious attitudes to treatments, but adult patients emphasized convenience while caregivers prioritized reduced severity of reactions and eliminated fear. Both groups confirmed the need for improved, trusted sources of information, and for resources and training programs for any new therapies.ConclusionThe interactive exchange provided insights into differences between adult patients and caregivers, notably in fear and confidence in daily life, severity of disease impact, and unmet needs for treatments.

Published
2023
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8. UDP-glucuronosyltransferase genetic variation in North African populations: a comparison with African and European data

Author

Apolonia Novillo, María Gaibar, Alicia Romero-Lorca, Hassen Chaabani, Nadir Amir, Pedro Moral, M. Esther Esteban, and Ana Fernández-Santander

Subjects
glucuronidase, ugts, pharmacogenetics, genetic diversity, risk-associated alleles, Biology (General), QH301-705.5, Human anatomy, QM1-695, Physiology, QP1-981
Abstract

Background: Genetic variation in glucuronosyltransferases (UGT) is crucial in drug metabolism and risk of some diseases. Aim: To examine genetic variation in UGT in North African populations. Subjects and methods: Allele frequencies of SNPs UGT1A424Thr, UGT1A448Val, UGT2B1585Tyr, UGT2B15523Thr and UGT2B17 CNV deletion from Morocco, Algeria, Tunisia and Libya were compared to European and Sub-Saharan populations. Results: North Africans are the group with the highest genetic heterogeneity given by internal differences in the occurrence of UGT2B17 deletion, UGT1A448Val and UGT1A4 haplotypes. UGT2B15 SNPs differentiate Sub-Saharans from the rest of the populations. Conclusion: North African populations show a high frequency of carriers of UGT2B15523Thr, a variant linked to an increased risk of prostate cancer. High Atlas Moroccans and Algerians show low frequency of UGT2B17del, a variant associated with high concentrations of testosterone and oestradiol.

Published
2018
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9. Dinucleotide (CA)n tandem repeats on the human X-chromosome and the history of the Mediterranean populations

Author

Josep Santamaría, Miguel M. Álvarez-Álvarez, M. Esther Esteban, Elies Ramon-Gurrea, and Pedro Moral

Subjects
ca dinucleotide strs, x-chromosome, human populations, mediterranean region, Biology (General), QH301-705.5, Human anatomy, QM1-695, Physiology, QP1-981
Abstract

Background: Tandem repeats (STRs) are genomic markers of particular interest in forensic and population genetics. Most of the population data currently available correspond to the variation of STRs of forensic panels, which barely include dinucleotide tandem repeats. Aims: The aim of the study is to test the usefulness of a battery of dinucleotide STRs on the X chromosome for population and forensic studies. Subjects and methods: A total of 672 individuals from 12 Mediterranean populations and two external references were analysed for 15 X-STR following the instructions of the commercial company and using control DNA from the CEPH centre whose sequences are published in GenBank. Genotypic results were analysed using standard population genetics methods including estimates of linkage disequilibrium, population structure and gene flow. Common forensic efficiency parameters were calculated. Results: The analysed X-STRs show high values of genetic diversity, comparable to other STRs of more common use. No significant associations between markers were found. A slight population structure was detected between the two shores of the Mediterranean. The X-STRs studied here present a similar degree of variability to that of other X-STRs used in forensics. Conclusion: Tandem-repeated dinucleotides are a good tool for evidencing population differences here. Forensic parameters indicate that the dinucleotide X-STRs are suitable for forensic use.

Published
2018
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10. Contemporary Management of Severe Symptomatic Aortic Stenosis

Author

Marc Eugène, Piotr Duchnowski, Bernard Prendergast, Olaf Wendler, Cécile Laroche, Jean-Luc Monin, Yannick Jobic, Bogdan A. Popescu, Jeroen J. Bax, Alec Vahanian, Bernard Iung, Jeroen Bax, Michele De Bonis, Victoria Delgado, Michael Haude, Gerhard Hindricks, Aldo P. Maggioni, Luc Pierard, Susanna Price, Raphael Rosenhek, Frank Ruschitzka, Stephan Windecker, Souad Mekhaldi, Katell Lemaitre, Sébastien Authier, Magdy Abdelhamid, Astrid Apor, Gani Bajraktari, Branko Beleslin, Alexander Bogachev-Prokophiev, Daniela Cassar Demarco, Agnes Pasquet, Sait Mesut Dogan, Andrejs Erglis, Arturo Evangelista, Artan Goda, Nikolaj Ihlemann, Huseyin Ince, Andreas Katsaros, Katerina Linhartova, Julia Mascherbauer, Erkin Mirrakhimov, Vaida Mizariene, Shelley Rahman-Haley, Regina Ribeiras, Fuad Samadov, Antti Saraste, Iveta Simkova, Elizabeta Srbinovska Kostovska, Lidia Tomkiewicz-Pajak, Christophe Tribouilloy, Eliverta Zera, Mimoza Metalla, Ervina Shirka, Elona Dado, Loreta Bica, Jorida Aleksi, Gerti Knuti, Lidra Gjyli, Rudina Pjeci, Eritinka Shuperka, Erviola Lleshi, Joana Rustemaj, Marsjon Qordja, Mirald Gina, Senada Husi, Daniel Basic, Regina Steringer-Mascherbauer, Charlotte Huber, Christian Ebner, Elisabeth Sigmund, Andrea Ploechl, Thomas Sturmberger, Veronica Eder, Tanja Koppler, Maria Heger, Andreas Kammerlander, Franz Duca, Christina Binder, Matthias Koschutnik, Leonard Perschy, Lisa Puskas, Chen-Yu Ho, Farid Aliyev, Vugar Guluzada, Galib Imanov, Firdovsi Ibrahimov, Abbasali Abbasaliyev, Tahir Ahmedov, Fargana Muslumova, Jamil Babayev, Yasmin Rustamova, Tofig Jahangirov, Rauf Samadov, Muxtar Museyibov, Elnur Isayev, Oktay Musayev, Shahin Xalilov, Saleh Huseynov, Madina Yuzbashova, Vuqar Zamanov, Vusal Mammadov, Gery Van Camp, Martin Penicka, Hedwig Batjoens, Philippe Debonnaire, Daniel Dendooven, Sebastien Knecht, Mattias Duytschaever, Yves Vandekerckhove, Luc Missault, Luc Muyldermans, René Tavernier, Tineke De Grande, Patrick Coussement, Joyce DeTroyer, Katrien Derycker, Kelly De Jaegher, Antoine Bondue, Christophe Beauloye, Céline Goffinet, Daniela Corina Mirica, Frédéric Vanden Eynden, Philippe Van de Borne, Béatrice Van Frachen, David Vancraeynest, Jean Louis Vanoverschelde, Sophie Pierard, Mihaela Malanca, Florence Sinnaeve, Séverine Tahon, Marie De Clippel, Frederic Gayet, Jacques Loiseau, Nico Van de Veire, Veronique Moerman, Anne-Marie Willems, Bernard Cosyns, Steven Droogmans, Andreea Motoc, Dirk Kerkhove, Daniele Plein, Bram Roosens, Caroline Weytjens, Patrizio Lancellotti, Elena Raluca Dulgheru, Ilona Parenicova, Helena Bedanova, Frantisek Tousek, Stepanka Sindelarova, Julia Canadyova, Milos Taborsky, Jiri Ostransky, null Ivona simkova, Marek Vicha, Libor Jelinek, Irena Opavska, Miroslav Homza, Miriam Kvrayola, Radim Brat, Dan Mrozek, Eva Lichnerova, Iveta Docekalova, Marta Zarybnicka, Marketa Peskova, Patrik Roucka, Vlasta Stastna, Dagmar Jungwirtova Vondrackova, Alfred Hornig, Matus Niznansky, Marian Branny, Alexandra Vodzinska, Miloslav Dorda, Libor Snkouril, Krystyna Kluz, Jana Kypusova, Radka Nezvalova, Niels Thue Olsen, Hosam Hasan Ali, Salma Taha, Mohamed Hassan, Ahmed Afifi, Hamza Kabil, Amr Mady, Hany Ebaid, Yasser Ahmed, Mohammad Nour, Islam Talaat, CairoMaiy El Sayed, Ahmad Elsayed Mostafa, CairoYasser Sadek, CairoSherif Eltobgi, Sameh Bakhoum, Ramy Doss, Mahmoud Sheashea, Abd Allah Elasry, Ahmed Fouad, Mahmoud Baraka, Sameh Samir, Alaa Roshdy, Yasmin AbdelRazek, Mostafa M. Abd Rabou, Ahmed Abobakr, Moemen Moaaz, Mohamed Mokhtar, Mohamed Ashry, Khaled Elkhashab, Haytham Soliman Ghareeb, Mostafa Kamal, Gomaa AbdelRazek, GizaNabil Farag, Giza:Ahmed Elbarbary, Evette Wahib, Ghada Kazamel, Diaa Kamal, Mahmoud Tantawy, Adel Alansary, Mohammed Yahia, Raouf Mahmoud, Tamer El Banna, Mohamed Atef, Gamela Nasr, Salah Ahmed, Ehab E. El Hefny, Islam Saifelyazal, Mostafa Abd El Ghany, Abd El Rahman El Hadary, Ahmed Khairy, Jyri Lommi, Mika Laine, Minna Kylmala, Katja Kankanen, Anu Turpeinen, Juha Hartikainen, Lari Kujanen, Juhani Airaksinen, Tuija Vasankari, Catherine Szymanski, Yohann Bohbot, Mesut Gun, Justine Rousseaux, Loic Biere, Victor Mateus, Martin Audonnet, Jérémy Rautureau, Charles Cornet, Emmanuel Sorbets, BourgesKarine Mear, Adi Issa, Florent Le Ven, Marie-Claire Pouliquen, Martine Gilard, Alice Ohanessian, Ali Farhat, Alina Vlase, Fkhar Said, Caroline Lasgi, Carlos Sanchez, Romain Breil, Marc Peignon, Jean-Philippe Elkaim, Virginie Jan-Blin, Sylvain Ropars BertrandM'Ban, Hélène Bardet, Samuel Sawadogo, Aurélie Muschoot, Dieudonné Tchatchoua, Simon Elhadad, Aline Maubert, Tahar Lazizi, Kais Ourghi, Philippe Bonnet, Clarisse Menager-Gangloff, Sofiene Gafsi, Djidjiga Mansouri, Victor Aboyans, Julien Magne, Elie Martins, Sarah Karm, Dania Mohty, Guillaume Briday, Amandine David, Sylvestre Marechaux, Caroline Le Goffic, Camille Binda, Aymeric Menet, Francois Delelis, Anne Ringlé, Anne-Laure Castel, Ludovic Appert, Domitille Tristram, Camille Trouillet, Yasmine Nacer, Lucas Ngoy, MarseilleGilbert Habib, Franck Thuny, Julie Haentjens, Jennifer Cautela, Cécile Lavoute, Floriane Robin, Pauline Armangau, Ugo Vergeylen, Khalil Sanhadji, Nessim Hamed Abdallah, Hassan Kerzazi, Mariana Perianu, François Plurien, Chaker Oueslati, Mathieu Debauchez, Zannis Konstantinos, Alain Berrebi, Alain Dibie, Emmanuel Lansac, Aurélie Veugeois, Christelle Diakov, Christophe Caussin, Daniel Czitrom, Suzanna Salvi, Nicolas Amabile, Patrice Dervanian, Stéphanie Lejeune, Imane Bagdadi, Yemmi Mokrane, Gilles Rouault, Jerome Abalea, Marion Leledy, Patrice Horen, Erwan Donal, Christian Bosseau, Elise Paven, Elena Galli, Edouard Collette, Jean-Marie Urien, Valentin Bridonneau, Renaud Gervais, Fabrice Bauer, Houzefa Chopra, Arthur Charbonnier, David Attias, Nesrine Dahouathi, Moukda Khounlaboud, Magalie Daudin, Christophe Thebault, Cécile Hamon, Philippe Couffon, Catherine Bellot, Maelle Vomscheid, Anne Bernard, Fanny Dion, Djedjiga Naudin, Mohammed Mouzouri, Mathilde Rudelin, Alain Berenfeld, Thibault Vanzwaelmen, Tarik Alloui, Marija Gjerakaroska Radovikj, Slavica Jordanova, Werner Scholtz, Eva Liberda-Knoke, Melanie Wiemer, Andreas Mugge, Georg Nickenig, Jan-Malte Sinning, Alexander Sedaghat, Matthias Heintzen, Jan Ballof, Daniel Frenk, Rainer Hambrecht, Harm Wienbergen, Annemarie Seidel, Rico Osteresch, Kirsten Kramer, Janna Ziemann, Ramona Schulze, Wolfgang Fehske, Clarissa Eifler, Bahram Wafaisade, Andreas Kuhn, Sören Fischer, Lutz Lichtenberg, Mareike Brunold, Judith Simons, Doris Balling, Thomas Buck, Bjoern Plicht, Wolfgang Schols, Henning Ebelt, Marwan Chamieh, Jelena Anacker, Tienush Rassaf, Alexander Janosi, Alexander Lind, Julia Lortz, Peter Lüdike, Philipp Kahlert, Harald Rittger, Gabriele Eichinger, Britta Kuhls, Stephan B. Felix, Kristin Lehnert, Ann-Louise Pedersen, Marcus Dorr, Klaus Empen, Sabine Kaczmarek, Mathias Busch, Mohammed Baly, Fikret Er, Erkan Duman, Linda Gabriel, Christof Weinbrenner, Johann Bauersachs, Julian Wider, Tibor Kempf, Michael Bohm, Paul-Christian Schulze, C. Tudor Poerner, Sven Möbius-Winkler, Karsten Lenk, Kerstin Heitkamp, Marcus Franz, Sabine Krauspe, Burghard Schumacher, Volker Windmuller, Sarah Kurwitz, Holger Thiele, Thomas Kurz, Roza Meyer-Saraei, Ibrahim Akin, Christian Fastner, Dirk Lossnitzer, Ursula Hoffmann, Martin Borggrefe, Stefan Baumann, Brigitte Kircher, Claudia Foellinger, Heike Dietz, Bernhard Schieffer, Feraydoon Niroomand, Harald Mudra, Lars Maier, Daniele Camboni, Christoph Birner, Kurt Debl, Michael Paulus, Benedikt Seither, Nour Eddine El Mokhtari, Alper Oner, Evren Caglayan, Mohammed Sherif, Seyrani Yucel, Florian Custodis, Robert Schwinger, Marc Vorpahl, Melchior Seyfarth, Ina Nover, Till Koehler, Sarah Christiani, David Calvo Sanchez, Barbel Schanze, Holger Sigusch, Athir Salman, Jane Hancock, John Chambers, Camelia Demetrescue, Claire Prendergast, Miles Dalby, Robert Smith, Paula Rogers, Cheryl Riley, Dimitris Tousoulis, Ioannis Kanakakis, Konstantinos Spargias, Konstantinos Lampropoulos, Tolis Panagiotis, Athanasios Koutsoukis, Lampros Michalis, Ioannis Goudevenos, Vasileios Bellos, Michail Papafaklis, Lampros Lakkas, George Hahalis, Athanasios Makris, Haralampos Karvounis, Vasileios Kamperidis, Vlasis Ninios, Vasileios Sachpekidis, Pavlos Rouskas, Leonidas Poulimenos, Georgios Charalampidis, Eftihia Hamodraka, Athanasios Manolis, Robert Gabor Kiss, Tunde Borsanyi, Zoltan Jarai, Andras Zsary, Elektra Bartha, Annamaria Kosztin, Alexandra Doronina, Attila Kovacs, Barabas Janos Imre, Chun Chao, Kalman Benke, Istvan Karoczkai, Kati Keltai, Zsolt Förchécz, Zoltán Pozsonyi, Zsigmond Jenei, Adam Patthy, Laszlo Sallai, Zsuzsanna Majoros, Tamás Pál, Jusztina Bencze, Ildiko Sagi, Andrea Molnar, Anita Kurczina, Gabor Kolodzey, Istvan Edes, Valeria Szatmari, Zsuzsanna Zajacz, Attila Cziraki, Adam Nemeth, Reka Faludi, Laszlone Vegh, Eva Jebelovszki, Geza Karoly Lupkovics, Zsofia Kovacs, Andras Horvath, Gezim Berisha, Pranvera Ibrahimi, Luan Percuku, Rano Arapova, Elmira Laahunova, Kseniia Neronova, Zarema Zhakypova, Gulira Naizabekova, Gulnazik Muratova, Iveta Sime, Nikolajs Sorokins, Ginta Kamzola, Irina Cgojeva-Sproge, Gita Rancane, Ramune Valentinaviciene, Laima Rudiene, Rasa Raugaliene, Aiste Bardzilauske, Regina Jonkaitiene, Jurate Petrauskaite, Monika Bieseviciene, Raimonda Verseckaite, Ruta Zvirblyte, Danute Kalibatiene, Greta Radauskaite, Gabija Janaviciute-Matuzeviciene, Dovile Jancauskaite, Deimile Balkute, Juste Maneikyte, Ingrida Mileryte, Monika Vaisvilaite, Lina Gedvilaite, Mykolas Biliukas, Vaiva Karpaviciene, Robert George Xuereb, Elton Pllaha, Roxana Djaberi, Klaudiusz Komor, Agnieszka Gorgon-Komor, Beata Loranc, Jaroslaw Myszor, Katarzyna Mizia-Stec, Adrianna Berger-Kucza, Magdalena Mizia, Mateusz Polak, Piotr Bogacki, Piotr Podolec, Monika Komar, Ewa Sedziwy, Dorota Sliwiak, Bartosz Sobien, Beata Rog, Marta Hlawaty, Urszula Gancarczyk, Natasza Libiszewska, Danuta Sorysz, Andrzej Gackowski, Malgorzata Cieply, Agnieszka Misiuda, Franciszek Racibor, Anna Nytko, Kazimierz Widenka, Maciej Kolowca, Janusz Bak, Andrzej Curzytek, Mateusz Regulski, Malgorzata Kamela, Mateusz Wisniowski, Tomasz Hryniewiecki, Piotr Szymanski, Monika Rozewicz, Maciej Grabowski, Andrzej Budaj, Beata Zaborska, Ewa Pilichowska-Paskiet, Malgorzata Sikora-Frac, Tomasz Slomski, Isabel Joao, Ines Cruz, Hélder Pereira, Rita Cale, Ana Marques, Ana Rita Pereira, Carlos Morais, Antonio Freitas, David Roque, Nuno Antunes, Antonio Costeira Pereira, Catarina Vieira, Nuno Salome, Juliana Martins, Isabel Campos, Goncalo Cardoso, Claudia Silva, Afonso Oliveira, Mariana Goncalves, Rui Martins, Nuno Quintal, Bruno Mendes, Joseline Silva, Joao Ferreira, James Milner, Patricia Alves, Vera Marinho, Paula Gago, Jose Amado, Joao Bispo, Dina Bento, Inocencia Machado, Margarida Oliveira, Lucy Calvo, Pedro von Hate, Bebiana Faria, Ana Galrinho, Luisa Branco, Antonio Goncalves, Tiago Mendonca, Mafalda Selas, Filipe Macedo, Carla Sousa, Sofia Cabral, Filomena Oliveira, Maria Trepa, Marta Fontes-Oliveira, Alzira Nunes, Paulo Araújo, Vasco Gama Ribeiro, Joao Almeida, Alberto Rodrigues, Pedro Braga, Sonia Dias, Sofia Carvalho, Catarina Ferreira, Alberto Ferreira, Pedro Mateus, Miguel Moz, Silvia Leao, Renato Margato, Ilidio Moreira, Jose Guimanaes, Joana Ribeiro, Fernando Goncalves, Jose Cabral, Ines Almeida, Luisa Goncalves, Mariana Tarusi, Calin Pop, Claudia Matei, Diana Tint, Sanziana Barbulescu, Sorin Micu, Ioana Pop, Costica Baba, Doina Dimulescu, Maria Dorobantu, Carmen Ginghina, Roxana Onut, Andreea Popescu, Brandusa Zamfirescu, Raluca Aflorii, Mihaela Popescu, Liviu Ghilencea, Andreeea Rachieru, Monica Stoian, Nicoleta Oprescu, Silvia Iancovici, Iona Petre, Anca Doina Mateescu, Andreea Calin, Simona Botezatu, Roxana Enache, Monica Rosca, Daniela Ciuperca, Evelyn Babalac, Ruxandra Beyer, Laura Cadis, Raluca Rancea, Raluca Tomoaia, Adela Rosianu, Emese Kovacs, Constantin Militaru, Alina Craciun, Oana Mirea, Mihaela Florescu, Lucica Grigorica, Daniela Dragusin, Luiza Nechita, Mihai Marinescu, Teodor Chiscaneanu, Lucia Botezatu, Costela Corciova, Antoniu Octavian Petris, Catalina Arsenescu-Georgescu, Delia Salaru, Dan Mihai Alexandrescu, Carmjen Plesoianu, Ana Tanasa, Ovidiu Mitu, Irina Iuliana Costache, Ionut Tudorancea, Catalin Usurelu, Gabriela Eminovici, Ioan Manitiu, Oana Stoia, Adriana Mitre, Dan-Octavian Nistor, Anca Maier, Silvia Lupu, Mihaela Opris, Adina Ionac, Irina Popescu, Simina Crisan, Cristian Mornos, Flavia Goanta, Liana Gruescu, Oana Voinescu, Madalina Petcu, Ramona Cozlac, Elena Damrina, Liliya Khilova, Irina Ryazantseva, Dmitry Kozmin, Maria Kiseleva, Marina Goncharova, Kamila Kitalaeva, Victoria Demetskay, Artem Verevetinov, Mikhail Fomenko, Elena Skripkina, Viktor Tsoi, Georgii Antipov, Yuri Schneider, Denis Yazikov, Marina Makarova, Aleksei Cherkes, Natalya Ermakova, Aleksandr Medvedev, Anastasia Sarosek, Mikhail Isayan, Tatyana Voronova, Oleg Kulumbegov, Alina Tuchina, Sergei Stefanov, Margarita Klimova, Konstantin Smolyaninov, Zhargalma Dandarova, Victoriya Magamet, Natalia Spiropulos, Sergey Boldyrev, Kirill Barbukhatty, Dmitrii Buyankov, Vladimir Yurin, Yuriy Gross, Maksim Boronin, Mariya Mikhaleva, Mariya Shablovskaya, Alex Zotov, Daniil Borisov, Vasily Tereshchenko, Ekaterina Zubova, A. Kuzmin, Ivan Tarasenko, Alishir Gamzaev, Natalya Borovkova, Tatyana Koroleva, Svetlana Botova, Ilya Pochinka, Vera Dunaeva, Victoria Teplitskaya, Elena I. Semenova, Olga V. Korabel'Nikova, Denis S. Simonov, Elena Denisenko, Natalia Harina, Natalia Yarohno, Svetlana Alekseeva, Julia Abydenkova, Lyubov Shabalkina, Olga Mayorova, Valeriy Tsechanovich, Igor Medvedev, Michail Lepilin, PenzaEvgenii Nemchenko, Vadim Karnahin, Vasilya Safina, Yaroslav Slastin, Venera Gilfanova, Roman Gorbunov, Ramis Jakubov, Aigul Fazylova, Mansur Poteev, Laysan Vazetdinova, Indira Tarasova, Rishat Irgaliyev, Olga Moiseeva, Mikhail Gordeev, Olga Irtyuga, Raisa Moiseeva, Nina Ostanina, Dmitry Zverev, Patimat Murtazalieva, Dmitry Kuznetsov, Mariya Skurativa, Larisa Polyaeva, Kirill Mihaiilov, Biljana Obrenovic-Kircanski, Svetozar Putnik, Dragan Simic, Milan Petrovic, Natasa Markovic Nikolic, Ljiljana Jovovic, Dimitra Kalimanovska Ostric, Milan Brajovic, Milica Dekleva Manojlovic, Vladimir Novakovic, Danijela Zamaklar-Trifunovic, Bojana Orbovic, Olga Petrovic, Marija Boricic-Kostic, Kristina Andjelkovic, Marko Milanov, Maja Despotovic-Nikolic, Sreten Budisavljevic, Sanja Veljkovic, Nataša Cvetinovic, Daniijela Lepojevic, Aleksandra Todorovic, Aleksandra Nikolic, Branislava Borzanovic, Ljiljana Trkulja, Slobodan Tomic, Milan Vukovic, Jelica Milosavljevic, Mirjana Milanovic, Vladan Stakic, Aleksandra Cvetkovic, Suzana Milutinovic, Olivera Bozic, Miodrag Miladinovic, Zoran Nikolic, Dinka Despotovic, Dimitrije Jovanovic, Anastazija Stojsic-Milosavljevic, Aleksandra Ilic, Mirjana Sladojevic, Stamenko Susak, Srdjan Maletin, Salvo Pavlovic, Vladimir Kuzmanovic, Nikola Ivanovic, Jovana Dejanovic, Dusan Ruzicic, Dragana Drajic, Danijel Cvetanovic, Marija Mirkovic, Jon Omoran, Roman Margoczy, Katarina Sedminova, Adriana Reptova, Eva Baranova, Tatiana Valkovicova, Gabriel Valocik, Marian Kurecko, Marianna Vachalcova, Alzbeta Kollarova, Martin Studencan, Daniel Alusik, Marek Kozlej, Jana Macakova, Sergio Moral, Merce Cladellas, Daniele Luiso, Alicia Calvo, Jordi Palet, Juli Carballo, Gisela Teixido Tura, Giuliana Maldonado, Laura Gutierrez, Teresa Gonzalez-Alujas, Rodriguez Palomares Jose Fernando, Nicolas Villalva, Ma Jose Molina-Mora, Ramon Rubio Paton, Juan Jose Martinez Diaz, Pablo Ramos Ruiz, Alfonso Valle, Ana Rodriguez, Edgardo Alania, Emilio Galcera, Julia Seller, Gonzalo de la Morena Valenzuela, Daniel Saura Espin, Dolores Espinosa Garcia, Maria Jose Oliva Sandoval, Josefa Gonzalez, Miguel Garcia Navarro, Maria Teresa Perez-Martinez, Jose Ramon Ortega Trujillo, Irene Menduina Gallego, Daniel San Roman, Eliu David Perez Nogales, Olga Medina, Rodolfo Antonio Montiel Quintero, Pablo Felipe Bujanda Morun, Marta Lopez Perez, Jimmy Plasencia Huaripata, Juan Jose Morales Gonzalez, Veronica Quevedo Nelson, Jose Luis Zamorano, Ariana Gonzalez Gomez, Alfonso Fraile, Maria Teresa Alberca, Joaquin Alonso Martin, Covadonga Fernandez-Golfin, Javier Ramos, Sergio Hernandez Jimenez, Cristina Mitroi, Pedro L. Sanchez Fernandez, Elena Diaz-Pelaez, Beatriz Garde, Luis Caballero, Fermin Martinez Garcia, Francisco Cambronero, Noelia Castro, Antonio Castro, Alejandro De La Rosa, Pastora Gallego, Irene Mendez, David Villagomez Villegas, Manuel Gonzalez Correa, Roman Calvo, Francisco Florian, Rafael Paya, Esther Esteban, Francisco Buendia, Andrés Cubillos, Carmen Fernandez, Juan Pablo Cárdenas, José Leandro Pérez-Boscá, Joan Vano, Joaquina Belchi, Cristina Iglesia-Carreno, Francisco Calvo Iglesias, Aida Escudero-Gonzalez, Sergio Zapateria-Lucea, Juan Sterling Duarte, Lara Perez-Davila, Rafael Cobas-Paz, Rosario Besada-Montenegro, Maribel Fontao-Romeo, Elena Lopez-Rodriguez, Emilio Paredes-Galan, Berenice Caneiro-Queija, Alba Guitian Gonzalez, Abdi Bozkurt, Serafettin Demir, Durmus Unlu, Caglar Emre Cagliyan, Muslum Firat Ikikardes, Mustafa Tangalay, Osman Kuloglu, Necla Ozer, Ugur Canpolat, Melek Didem Kemaloglu, Abdullah Orhan Demirtas, Didar Elif Akgün, Eyup Avci, Gokay Taylan, Mustafa Adem Yilmaztepe, Fatih Mehmet Ucar, Servet Altay, Muhammet Gurdogan, Naile Eris Gudul, Mujdat Aktas, Mutlu Buyuklu, Husnu Degirmenci, Mehmet Salih Turan, Kadir Ugur Mert, Gurbet Ozge Mert, Muhammet Dural, Sukru Arslan, Nurten Sayar, Batur Kanar, Beste Ozben Sadic, Ahmet Anil Sahin, Ahmet Buyuk, Onur Kilicarslan, Cem Bostan, Tarik Yildirim, Seda Elcim Yildirim, Kahraman Cosansu, Perihan Varim, Ersin Ilguz, Recep Demirbag, Asuman Yesilay, Abdullah Cirit, Eyyup Tusun, Emre Erkus, Muhammet Rasit Sayin, Zeynep Kazaz, Selim Kul, Turgut Karabag, Belma Kalayci, Clinical sciences, Cardio-vascular diseases, and Cardiology

Subjects
Male, medicine.medical_specialty, Multivariate analysis, Clinical Decision-Making, Risk Assessment, Severity of Illness Index, decision making, surgery, Risk Factors, Internal medicine, Intervention (counseling), medicine, Clinical endpoint, Humans, 03.02. Klinikai orvostan, guidelines, Symptomatic aortic stenosis, Aged, Retrospective Studies, Aged, 80 and over, business.industry, valvular heart disease, Disease Management, aortic stenosis, Aortic Valve Stenosis, Odds ratio, medicine.disease, Europe, Stenosis, Treatment Outcome, Echocardiography, Aortic Valve, Charlson comorbidity index, transcatheter aortic valve replacement, Female, Morbidity, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies, surgical aortic valve replacement
Abstract

BACKGROUND There were gaps between guidelines and practice when surgery was the only treatment for aortic stenosis (AS). OBJECTIVES This study analyzed the decision to intervene in patients with severe AS in the EORP VHD (EURObservational Research Programme Valvular Heart Disease) II survey. METHODS Among 2,152 patients with severe AS, 1,271 patients with high-gradient AS who were symptomatic fulfilled a Class I recommendation for intervention according to the 2012 European Society of Cardiology guidelines; the primary end point was the decision for intervention. RESULTS A decision not to intervene was taken in 262 patients (20.6%). In multivariate analysis, the decision not to intervene was associated with older age (odds ratio [OR]: 1.34 per 10-year increase; 95% CI: 1.11 to 1.61; P = 0.002), New York Heart Association functional classes I and II versus III (OR: 1.63; 95% CI: 1.16 to 2.30; P = 0.005), higher age adjusted Charlson comorbidity index (OR: 1.09 per 1-point increase; 95% CI: 1.01 to 1.17; P = 0.03), and a lower transaortic mean gradient (OR: 0.81 per 10-mm Hg decrease; 95% CI: 0.71 to 0.92; P < 0.001). During the study period, 346 patients (40.2%, median age 84 years, median EuroSCORE II [European System for Cardiac Operative Risk Evaluation II] 3.1%) underwent transcatheter intervention and 515 (59.8%, median age 69 years, median EuroSCORE II 1.5%) underwent surgery. A decision not to intervene versus intervention was associated with lower 6-month survival (87.4%; 95% CI: 82.0 to 91.3 vs 94.6%; 95% CI: 92.8 to 95.9; P < 0.001). CONCLUSIONS A decision not to intervene was taken in 1 in 5 patients with severe symptomatic AS despite a Class I recommendation for intervention and the decision was particularly associated with older age and combined comorbidities. Transcatheter intervention was extensively used in octogenarians. (J Am Coll Cardiol 2021;78:2131-2143) (c) 2021 by the American College of Cardiology Foundation.

Published
2021
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11. Governance of knowledge and innovation in the Ibero-American agri-food system

Author

Esther Esteban-Rodrigo, Eugenia Saini, José María García Álvarez-Coque, Francisco Mas Verdú, Knowledge Partnership Korea Fund for Technology and Innovation, and Ministry of Science and Innovation, Spain and ERDF (RTI2018-093791-B-C22)

Subjects
ECONOMIA APLICADA, Latin Americans, R&D resources, Best practice, agriculture and agri-food research, r&d resources, thematic analysis, lcsh:Agriculture, Political science, 0502 economics and business, Regional science, Knowledge and innovation systems, 050207 economics, Management process, Agricultural economics, 17.- Fortalecer los medios de ejecución y reavivar la alianza mundial para el desarrollo sostenible, Corporate governance, 05 social sciences, national institutes for agriculture and agri-food research, knowledge and innovation systems, lcsh:S, Capacity building, Innovation system, Thematic analysis, National institutes for agriculture and agri-food research, Food systems, Agriculture and agri-food research, Agronomy and Crop Science, Social responsibility, 050203 business & management
Abstract

[EN] Aim of study: Governance and the knowledge and innovation system (KIS) are interrelated concepts. Knowledge management best practices are linked to KIS performance. This article explores the governance of the leading research, development, and innovation institutes in Ibero-American agriculture, food, and agro-industry sector. The paper reports mapping of the governance of 20 agricultural research institutes. Area of study: Latin America and the Caribbean, Spain and Portugal. Material and methods: In total, 51 strategic objectives for effective governance were identified. Self-evaluation by the National Agricultural Research Institutes (NARIs) was validated at a workshop backed by FONTAGRO, a cooperation mechanism amongst Latin American and the Caribbean countries, Portugal and Spain, and the Ibero-American Network of NARIs. Main results: As a strength, the key dimension of NARIs appears to be coordination and cooperation. This result was acknowledged in the internal and external evaluations and supports previous research on the relevance of innovation networks in Latin America. By contrast, as a challenge, the key dimension appears to be demand articulation, followed closely by capacity building. Most of the institutes are also well-positioned to develop deeper ties with social and environmental challenges. Research highlights: In the medium and long term, NARIs should make efforts to improve the processes of organizational evaluation and learning, demand articulation, and strategic direction of the institutions. Improvement in management processes, in addition to best practices for social responsibility and gender equality, appear to be short-term priorities., American Development Bank and the Knowledge Partnership Korea Fund for Technology and Innovation (KPK). Ministry of Science and Innovation, Spain and ERDF (European Commission). RTI2018-093791-B-C22

Published
2021

12. Pattern of severe injuries in Spanish children: boys and falls are alarmingly overrepresented

Author

López-Parellada R, Esther Esteban, José Cambra F, Esther Esteban M, Benito S, Hemández-Platero L, Prat S, and Esparza M

Subjects
Severe trauma, business.industry, media_common.quotation_subject, Medicine, Observational study, Girl, Logistic regression, business, Adolescent age, Developed country, media_common, Demography, Odds
Abstract

Background: Taking into account that injury is one of the main causes of child fatalities in developed countries, and that boys are more likely to suffer it than girls, we have explored a database of pediatric patients with severe injuries to determine whether sex and age influence the pattern of these fatalities, and the magnitude of this.Method: Observational study of the demographic and clinical characteristics of 227 patients from a Spanish pediatric reference hospital, all of them admitted with a diagnosis of trauma.Result: Falls are the most frequent type of trauma (60.7%), followed by pedestrian traffic collisions (15%). Boys are over-represented in falls (72% vs 28% in girls) and pedestrian traffic injuries (61% vs 39 %). In boys, falls are mainly observed in public roads and during leisure activities (53.8%) whereas in girls at home (55.2%). In a logistic regression, sex and age are statistically significant predictors of severe trauma, boys (OR = 1.59) and the adolescent age group (OR = 3.7) showed the highest odds.Conclusion: We have observed a clear gender-biased pattern of injury-related events: falls are the leading cause of injuries, with 2.5 boys for every girl. Falls mostly happened during outdoor leisure activities in boys and at home in girls. Pedestrian traffic injuries also show significant differences between sexes, emphasizing the role of cognitive and cultural factors in children’s behavior.

Published
2018
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13. Prognostic value of biomarkers after cardiopulmonary bypass in pediatrics: The prospective PANCAP study

Author

Mònica Balaguer, Patricia Corniero, Iolanda Jordan, Maria Esther Esteban, Elisabeth Esteban, Anna Solé-Ribalta, Sara Bobillo-Perez, Francisco José Cambra, and Universitat de Barcelona

Subjects
Inotrope, Bacterial Diseases, Cardiovascular Procedures, medicine.medical_treatment, Peptide Hormones, Derivació cardiopulmonar, 030204 cardiovascular system & hematology, Biochemistry, Pediatrics, Procalcitonin, law.invention, Adrenomedullin, 0302 clinical medicine, Postoperative Complications, law, Natriuretic peptide, Medicine and Health Sciences, 030212 general & internal medicine, Prospective Studies, Prospective cohort study, Child, Pediatric intensive care unit, Multidisciplinary, Cardiopulmonary Bypass, Pediatria, Cardiopulmonary bypass, Biochemical markers, Bacterial Infections, Prognosis, Infectious Diseases, Optical Equipment, Anesthesia, Child, Preschool, Marcadors bioquímics, Biomarker (medicine), Medicine, Engineering and Technology, Pediatric Infections, Atrial Natriuretic Factor, hormones, hormone substitutes, and hormone antagonists, Research Article, medicine.drug_class, Science, Equipment, Surgical and Invasive Medical Procedures, 03 medical and health sciences, Natriuretic Peptide, medicine, Humans, Protein Precursors, Mechanical ventilation, Postoperative Care, business.industry, Infant, Biology and Life Sciences, Prisms, Myocardial Contraction, Hormones, Atrial Natriuretic Peptide, business, Biomarkers
Abstract

ObjectiveTo assess the usefulness of procalcitonin, pro-adrenomedullin and pro-atrial natriuretic peptide as predictors of need for mechanical ventilation and postoperative complications (need for inotropic support and bacterial infection) in critically ill pediatric patients after cardiopulmonary bypass.DesignA prospective, observational study.SettingPediatric intensive care unit.PatientsPatients under 18 years old admitted after cardiopulmonary bypass.Measuraments and main resultsSerum levels of procalcitonin, pro-adrenomedullin and pro-atrial natriuretic peptide were determined immediately after bypass and at 24-36 hours. Their values were correlated with the need for mechanical ventilation, inotropic support and bacterial infection. One hundred eleven patients were recruited. Septal defects (30.6%) and cardiac valve disease (17.1%) were the most frequent pathologies. 40.7% required mechanical ventilation, 94.6% inotropic support and 15.3% presented invasive bacterial infections. Pro-adrenomedullin and pro-atrial natriuretic peptide showed significant high values in patients needing mechanical ventilation. Cut-off values higher than 1.22 nmol/L and 215.3 pmol/L, respectively for each biomarker, may indicate need for mechanical ventilation with an AUC of 0.721 and 0.746 at admission and 0.738 and 0.753 at 24-36 hours, respectively but without statistical differences. Pro-adrenomedullin and procalcitonin showed statistically significant high values in patients with bacterial infections.ConclusionsAfter bypass, pro-adrenomedullin and pro-atrial natriuretic peptide are suitable biomarkers to predict the need for mechanical ventilation. Physicians should be alert if the values of these markers are high so as not to progress to early extubation. Procalcitonin is useful for predicting bacterial infection. This is a preliminary study and more clinical studies should be done to confirm the value of pro-adrenomedullin and pro-atrial natriuretic peptide as biomarkers after cardiopulmonary bypass.

Published
2019

14. Biomedical Insights of Human Genetic Diversity in Complex Diseases

Author

Carla Maria Calò, Pedro Moral, Analabha Basu, and M. Esther Esteban

Subjects
Genetics, General Immunology and Microbiology, biology, Article Subject, lcsh:R, Genetic Diseases, Inborn, Genetic Variation, lcsh:Medicine, General Medicine, Human genetic variation, PTPRC, Bioinformatics, General Biochemistry, Genetics and Molecular Biology, Heteroplasmy, SNP genotyping, Editorial, Genotype, Genetic variation, biology.protein, Genetic predisposition, Humans, SNP
Abstract

Once some of the major goals in the understanding of human gene diversity are attained, we have now the opportunity to apply them to the field of biomedicine. The knowledge of complete genomes allowed us to go more deeply into the genetic factors of many diseases. Much effort has been devoted to unravel the genetic and environmental contribution to complex diseases, not without difficulty because they represent the extreme manifestation of a continuum of genetic, physiological, and environmental features. With the added pressure that some of these disorders have reached epidemic proportions because of the lifestyle changes of worldwide populations. Within this scenario, this special issue contains five works about complex diseases, including heart pathologies, rheumatoid arthritis, colorectal cancer, and childhood asthma. All are multistep diseases with unknown interactions among environmental agents and genetic susceptibility. In addition, their incidences do not stop increasing in both western and emerging countries. The methodological approximations of the five articles respond to different designs including miRNAs binding sites, mitochondrial heteroplasmy, SNP genotyping, and a very particular sample. In the paper entitled “Mosaicism of Mitochondrial Genetic Variation in Atherosclerotic Lesions of the Human Aorta,” the samples are segments of morphologically mapped aortic walls instead of human patients as in the remaining papers. In this work, M. A. Sazonova et al. examine the heteroplasmy levels of eleven mitochondrial mutations in segments of morphologically mapped aortic walls, normal and affected by atherosclerosis segments of morphologically mapped aortic walls. Five mutations have been found significantly associated with atherosclerotic lesions of intimal segments. The next paper concerning heart diseases is entitled “Novel Mutations in the Transcriptional Activator Domain of the Human TBX20 in Patients with Atrial Septal Defect.” The work conducted by I. E. Monroy-Munoz et al. analyzes patients affected by congenital heart defects for TBX20 mutations. Three missense mutations located in exons encoding the transcriptional activator domain have been detected, together with other ten nonsense mutations and one nonreported SNP. The work entitled “TRAF1/C5 but Not PTPRC Variants Are Potential Predictors of Rheumatoid Arthritis Response to Antitumor Necrosis Factor Therapy” examines the association between risk variants of rheumatoid arthritis and response to treatment with antitumor necrosis factor. In their paper, H. Canhao et al. examine more than six hundred Portuguese and Spanish patients and fail to replicate the previously reported association of PTPRC locus and response to treatment. The relationship among risk of asthma, environmental exposures, and genetic background has been deeply examined in the paper entitled “Gender-Dependent Effect of GSTM1 Genotype on Childhood Asthma Associated with Prenatal Tobacco Smoke Exposure.” C.-C. Wu et al. conducted a longitudinal birth cohort study of six years of follow-up recruiting more than five hundred children to explore the interactive influences of gender, GSTM1 genotypes, and prenatal tobacco smoke exposure in asthma development. Finally, the paper entitled “A Functional Variant at miR-520a Binding Site in PIK3CA Alters Susceptibility to Colorectal Cancer in a Chinese Han Population” investigates the association between miR-520a binding site polymorphism in the PIK3CA gene and risk of colorectal cancer. L. Ding et al. conclude that polymorphisms in untranslated regions of PIK3CA may play a role in colorectal carcinogenesis.

Published
2015
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15. North African genetic variation of cytochrome and sulfotransferase genes

Author

M. Esther Esteban, Qi wei Li, Ana Fernández-Santander, Alicia Romero-Lorca, Apolonia Novillo, Meritxell Arqués, and María Gaibar

Subjects
Genetics, Sulfotransferase, África del Norte, Cytochrome, biology, Genetic variation, biology.protein, North african, Genética humana - África septentrional, Genética humana, Gene, Genealogy
Abstract

This review is focused on the genetic variation of sulfotransferases (SULTs) and cytochromes (CYPs) genes among different ethnic groups, mainly focusing in variation in North African populations. Polymorphisms of SULTs and CYPs proteins are associated with altered enzymatic activity and physical characteristics. Single nucleotide polymorphisms (SNP) in these genes have shown relevant ethnic differences among Sub-Saharan African and European groups that might contribute to understand the variability in drug metabolism and risk to certain cancers that has been described among these two groups. Taking into account that North African populations have been scarcely described for these genes, and considering the rich genetic past of this region with a noticeable Sub-Saharan African contribution to their original background, it is interesting a revision and description of some relevant polymorphisms. UEM (2015/31) No data (2015) UEM

Published
2015

16. Close genetic relationships in vast territories: autosomal and X chromosome Alu diversity in Yakuts from Siberia

Author

Ares Rocañín-Arjó, Sardana A. Fedorova, Pedro Moral, Esther Esteban, Eric Crubézy, Morgane Gibert, Laura Rodríguez-Botigué, Larissa E. Evdokimova, Catherine Thèves, Seccio d'Antropologia, Universitat de Barcelona (UB), Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra [Barcelona] (UPF), Unitat d´Antropologia, Universitat de Barcelona (UB)-Departament de Biologia Animal, Anthropologie Moléculaire et Imagerie de Synthèse (AMIS), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS), Hospital of the Viljujsk, North-Eastern Federal University, Laboratoire d'Anthropobiologie (LA), École des hautes études en sciences sociales (EHESS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), and Departament de Biologia Animal

Subjects
Male, Alu, media_common.quotation_subject, Population, [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, Biology, X chromosome, 03 medical and health sciences, Alu Elements, Ethnicity, Humans, education, Ecology, Evolution, Behavior and Systematics, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, media_common, Genetics, Analysis of Variance, Chromosomes, Human, X, 0303 health sciences, education.field_of_study, Yakuts, 030305 genetics & heredity, Gene diversity, Genetic Variation, General Medicine, 3. Good health, Genetic differentiation, Siberia, Anthropology, [SDE]Environmental Sciences, Female, Animal Science and Zoology, Diversity (politics)
Abstract

Twelve autosomal and 8 X chromosome Alu markers were genotyped for the first time in 161 Central and West Yakuts to test their ability to reconstruct the genetic history of these populations, the northernmost Turkic-speaker ethnic group living in Siberia. Autosomal data revealed that both groups showed extremely close genetic distances to other populations of Siberian origins that occupied areas from Lake Baikal, the ancestral place of origin of Yakuts, to North Siberia, their current territories. Autosomal and X chromosome data revealed some discrepancies on the genetic differentiation and the effective sizes of Central and West Yakuts. Such discrepancies could be related to the patrilineal and occasionally polygamous structure of these populations. Autosomal and X Alu markers are informative markers to reconstruct population past demography and history, but their utility is limited by the available data. This study represents a contribution for further investigations on these populations. © 2013 E. Schweizerbart'sche Verlagsbuchhandlung, Stuttgart, Germany.

Published
2013

17. Usefulness of autosomal STR polymorphisms beyond forensic purposes: data on Arabic- and Berber-speaking populations from central Morocco

Author

Mostafa Kandil, Maria Esther Esteban, Nourdin Harich, María Gaibar, Ana Fernández-Santander, and Marc Via

Subjects
Forensic Genetics, Heterozygote, Aging, Physiology, Epidemiology, Arabic, Population, Genética humana, Gene Frequency, Databases, Genetic, Genetic variation, Genotype, Ethnicity, Genetics, Chromosomes, Human, Humans, Palestine, education, Language, education.field_of_study, Polymorphism, Genetic, Geography, Public Health, Environmental and Occupational Health, social sciences, language.human_language, Forensic science, Morocco, Genetics, Population, Genetic Loci, Str loci, language, Microsatellite, geographic locations, Microsatellite Repeats, Demography
Abstract

BACKGROUND: This work describes, for the first time, the profile of Middle Atlas Berbers and Arabic-speaking central Moroccans for 15 autosomal STR loci widely used in forensic sciences. AIM: The main objectives were to determine the degree of heterogeneity among different Moroccan samples to identify geographic or linguistic patterns and to evaluate the usefulness of forensic STRs in anthropological studies. SUBJECTS AND METHODS: Blood samples were collected from 71 Arabic-speakers and 75 Berbers from the regions of Doukkala (central-west coast) and Khenifra (Middle Atlas), respectively. The AmpFlSTR Identifier kit was used to genotype 15 autosomal STR in both samples. RESULTS: Middle Atlas Berbers showed slightly higher genetic variation values compared to Arabic-speakers, both in the number of alleles and heterozygosity. In order to assess population relationships, data from Morocco, Algeria, Tunisia, Libya, Egypt, Kuwait, Qatar, Palestine, Syria, South-Spain and Turkey were included in the analysis. Within Morocco, genetic distances followed a clear geographic pattern. In the Arabic-speaking sample the genetic proportion of 'Arabian' admixture was estimated in 13%. CONCLUSION: The low value of admixture suggests that the Arabization of Morocco had a reduced demographic impact, which should be taken with caution because it is based on autosomal STRs with low inter-population variation levels. 1.484 JCR (2012) Q2 40/83 Biology; Q3, 86/158 Public, environmental & occupational health

Published
2012

18. The ins and outs of population relationships in west-Mediterranean islands: data from autosomal Alu polymorphisms and Alu/STR compound systems

Author

Magdalena Gayà-Vidal, Giuseppe Vona, Josep Santamaria, Marc Via, Esther Esteban, Pedro Moral, Emili González-Pérez, Laurent Varesi, Instituto Universitario de Investigacion de Nanocienca de Aragon, University of Zaragoza - Universidad de Zaragoza [Zaragoza], Sciences pour l'environnement (SPE), and Centre National de la Recherche Scientifique (CNRS)-Université Pascal Paoli (UPP)

Subjects
Mediterranean climate, Gene Flow, MESH: Mediterranean Islands, Population, MESH: Population Groups, Alu element, Gene flow, 03 medical and health sciences, Genetic Heterogeneity, Mediterranean Islands, Genetic drift, Gene Frequency, Population Groups, Alu Elements, MESH: Polymorphism, Genetic, Genetics, Ethnicity, MESH: Gene Frequency, Humans, education, MESH: Genetic Drift, Genetics (clinical), MESH: Gene Flow, 030304 developmental biology, MESH: Alu Elements, 0303 health sciences, education.field_of_study, Polymorphism, Genetic, MESH: Humans, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], Genetic heterogeneity, 030305 genetics & heredity, Haplotype, Genetic Drift, MESH: Genetic Heterogeneity, MESH: Tandem Repeat Sequences, Geography, Evolutionary biology, Tandem Repeat Sequences, MESH: Ethnic Groups
Abstract

International audience; The islands of the West Mediterranean have played a central role in numerous archaeological, historical and anthropological studies due to their active participation in the history of main Mediterranean civilisations. However, genetic data failed to fit in both their degree of internal differentiation and relationships. A set of 18 Alu markers and three short tandem repeats (STRs) closely linked to the CD4, F13B and DM Alu have been analysed in seven samples from Majorca, Corsica, Sardinia and Sicily to explore some of these issues. Our samples show a high genetic heterogeneity inside and among islands for the Alu data. Global differentiation among islands (F(ST) 2.2%) is slightly higher than that described for Europeans and North Africans. Both the estimated divergence times among samples and the high population heterogeneity revealed by Alu data are compatible with population differences since the first islands' settlement in the Paleolithic period. However, the high within-population diversities and the remarkable homogeneity observed in both STR and Alu/STR haplotype variation indicated that, at least since Neolithic times, gene flow has been acting in west Mediterranean. Genetic drift in west-coast Sardinia and gene flow in west Sicily have contributed to their general differentiation, whereas Corsica, Majorca and east Sicily seem to reflect more recent historical relationships from continental south Europe.

Published
2007
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19. Androgen receptor CAG and GGC polymorphisms in Mediterraneans: repeat dynamics and population relationships

Author

Farha El Chennawi, Giuseppe Vona, Jean-Michel Dugoujon, Mohamed Cherkaoui, Mohamed Melhaoui, Nourdin Harich, Esther Esteban, Josep Santamaria, Marc Via, Emili González-Pérez, Pedro Moral, Natalia Rodon, Department of Animal Biology-Anthropology, Faculty of Biology, Universitat de Barcelona (UB), Centre d'Anthropologie, École des hautes études en sciences sociales (EHESS)-Université Toulouse - Jean Jaurès (UT2J)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS), Immunology Unit, Faculty of Medicine, Mansoura University [Egypt], General Ecology, Faculty of Sciences, Université Mohammed Premier [Oujda], Human Ecology, Faculté des Sciences Semlalia Marrakech, Department of Experimental Biology, Universita degli Studi di Cagliari [Cagliari], Department of Biology, Faculty of Sciences, and Université Chouaib Doukkali (UCD)

Subjects
Male, Population, [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, Population genetics, Biology, Prostate cancer, Gene Frequency, Genetic variation, Genetics, medicine, Ethnicity, Humans, Allele, education, Gene, Genetics (clinical), education.field_of_study, Analysis of Variance, Principal Component Analysis, Polymorphism, Genetic, Mediterranean Region, Sequence Analysis, DNA, medicine.disease, Androgen receptor, Cote d'Ivoire, Genetics, Population, Receptors, Androgen, Microsatellite, Female, Trinucleotide Repeat Expansion, Microsatellite Repeats
Abstract

Microsatellite variation (CAG and GGC repeats) of the androgen receptor (AR) gene shows remarkable differences among African and non-African populations. In vitro studies have demonstrated an inverse relationship between the length of both microsatellites and AR activity. This fact may explain the observed association of the AR gene with prostate cancer and the strong ethnic differences in the incidence of this cancer. CAG and GGC genetic variation has been tested in a large set of populations from the Ivory Coast as well as 12 Mediterranean samples whose variation is described for the first time. The pattern of frequencies observed in the Ivory Coast agrees with data previously reported for other Sub-Saharan populations. Concerning the Mediterranean variation, Sardinian samples are characterised by low genetic diversities, and Egyptian Siwa Berbers by a particular pattern of GGC frequencies. High and Middle Atlas Moroccan Berbers are the most closely related to the Sub-Saharan variation. For both the CAG and GGC repeats, the Ivory Coast and some Moroccan samples exhibit high frequencies of low size alleles (CAG under 18 repeats, and GGC under 15 repeats) that have been associated with prostate cancer.

Published
2006

20. Population variability in some genes involving the haemostatic system: data on the general population of Corsica (France), Sardinia and Sicily (Italy)

Author

Marc Memmi, Laurent Varesi, L. Vacca, Esther Esteban, Alessandra Falchi, Giuseppe Vona, Pedro Moral, and Antonio Lopez Alomar

Subjects
Genetics, education.field_of_study, TaqI, lcsh:QH426-470, Population, Locus (genetics), Biology, HindIII, chemistry.chemical_compound, lcsh:Genetics, chemistry, Genetic marker, haemostatic genes, Mediterranean populations, hemic and lymphatic diseases, Genotype, biology.protein, genetic markers, Allele, education, Mediterranean Islands, Molecular Biology
Abstract

Three different population samples from Corsica (France), Sardinia and Sicily (Italy) were studied using nine genetic markers. For the first time, allele distributions of FGA TaqI, FGB Bcl I, FGB Hind III, PAI-1 Hind III, PLAT TPA-25, GPIIIa Taq I, GPIIb I/D 9bp, FVII HVR4 and FVII -323 10 bp markers, which are thought to be associated with cardiovascular disease risk, were studied in the general population of the three islands. The frequencies of the markers analysed in the present work show some peculiarities: the locus FVII HVR4 is characterized by the presence of a rare allele (H5), found in Corsicans and in Sardinians; the locus FBG BcII shows a low frequency of the B1 allele and the absence of the B1B1 genotype. The frequencies of some alleles have a distribution that is in agreement with the low risk for cardiovascular diseases in south European countries. The results highlight a genetic differentiation between the three Mediterranean islands and the other European populations.

Published
2004

21. The Mediterranean Sea as a barrier to gene flow: evidence from variation in and around the F7 and F12 genomic regions

Author

Esther Esteban, Jean-Michel Dugoujon, Georgios Athanasiadis, Emili González-Pérez, Pedro Moral, and Mark Stoneking

Subjects
Mediterranean climate, Gene Flow, Male, Entomology, Heterozygote, Evolution, Range (biology), Population, Biology, Gene flow, Evolution, Molecular, Mediterranean sea, Gene Frequency, parasitic diseases, Research article, QH359-425, Humans, education, Ecology, Evolution, Behavior and Systematics, education.field_of_study, Principal Component Analysis, Polymorphism, Genetic, Geography, Genome, Human, Mediterranean Region, Haplotype, Sequence Analysis, DNA, Factor VII, Genetics, Population, Haplotypes, Evolutionary biology, Genetic structure, Factor XII, Female
Abstract

Background The Mediterranean has a long history of interactions among different peoples. In this study, we investigate the genetic relationships among thirteen population samples from the broader Mediterranean region together with three other groups from the Ivory Coast and Bolivia with a particular focus on the genetic structure between North Africa and South Europe. Analyses were carried out on a diverse set of neutral and functional polymorphisms located in and around the coagulation factor VII and XII genomic regions (F7 and F12). Results Principal component analysis revealed a significant clustering of the Mediterranean samples into North African and South European groups consistent with the results from the hierarchical AMOVA, which showed a low but significant differentiation between groups from the two shores. For the same range of geographic distances, populations from each side of the Mediterranean were found to differ genetically more than populations within the same side. To further investigate this differentiation, we carried out haplotype analyses, which provided partial evidence that sub-Saharan gene flow was higher towards North Africa than South Europe. Conclusions As there is no consensus between the two genomic regions regarding gene flow through the Sahara, it is hard to reach a solid conclusion about its role in the differentiation between the two Mediterranean shores and more data are necessary to reach a definite conclusion. However our data suggest that the Mediterranean Sea was at least partially a barrier to gene flow between the two shores.

Published
2010

22. Polymorphism FXII 46C>T and cardiovascular risk: additional data from Spanish and Tunisian patients

Author

Esther Esteban, Georgios Athanasiadis, Pedro Moral, Robert Carreras Torres, Raoudha Bahri, and Magdanela Gayà Vidal

Subjects
Medicine(all), medicine.medical_specialty, Pathology, business.industry, Biochemistry, Genetics and Molecular Biology(all), lcsh:R, Short Report, lcsh:Medicine, General Medicine, Plasma levels, Coagulation Factor XII, medicine.disease, Gastroenterology, General Biochemistry, Genetics and Molecular Biology, Coronary artery disease, Venous thrombosis, lcsh:Biology (General), Internal medicine, Genotype, Ischemic stroke, medicine, business, lcsh:Science (General), lcsh:QH301-705.5, lcsh:Q1-390
Abstract

Background Previous studies showed an association between Coagulation Factor XII 46C>T polymorphism and variation in FXII plasma levels, as 46C>T seems to affect the translation efficiency. Case-control studies in Spanish samples indicated that genotype T/T is an independent risk factor for venous thrombosis, ischemic stroke and acute coronary artery disease. In this study, we tried to reaffirm the importance of 46C>T in two samples from Spain and Tunisia. Findings A Transmission Disequilibrium Test (TDT) based on 101 family trios from Barcelona with one offspring affected by ischemic heart disease and a classical case-control study based on 76 patients with IHD and 118 healthy individuals from North and Centre-South Tunisia were conducted. Subjects were genotyped for 46C>T and data were analyzed accordingly, revealing no association in any of the two samples (TDT: P = 0.16, relative risk 1.17; case-control study: P = 0.59, odds ratio 1.36). Conclusion The results suggest that 46C>T is not a risk factor for ischemic heart disease in any of the two analyzed samples and therefore the polymorphism seems not to be a universal risk factor for cardiovascular diseases.

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23. Prognostic value of biomarkers after cardiopulmonary bypass in pediatrics: The prospective PANCAP study.

Author

Sara Bobillo-Perez, Iolanda Jordan, Patricia Corniero, Monica Balaguer, Anna Sole-Ribalta, Maria Esther Esteban, Elisabeth Esteban, and Francisco Jose Cambra

Subjects
Medicine, Science
Abstract

ObjectiveTo assess the usefulness of procalcitonin, pro-adrenomedullin and pro-atrial natriuretic peptide as predictors of need for mechanical ventilation and postoperative complications (need for inotropic support and bacterial infection) in critically ill pediatric patients after cardiopulmonary bypass.DesignA prospective, observational study.SettingPediatric intensive care unit.PatientsPatients under 18 years old admitted after cardiopulmonary bypass.Measuraments and main resultsSerum levels of procalcitonin, pro-adrenomedullin and pro-atrial natriuretic peptide were determined immediately after bypass and at 24-36 hours. Their values were correlated with the need for mechanical ventilation, inotropic support and bacterial infection. One hundred eleven patients were recruited. Septal defects (30.6%) and cardiac valve disease (17.1%) were the most frequent pathologies. 40.7% required mechanical ventilation, 94.6% inotropic support and 15.3% presented invasive bacterial infections. Pro-adrenomedullin and pro-atrial natriuretic peptide showed significant high values in patients needing mechanical ventilation. Cut-off values higher than 1.22 nmol/L and 215.3 pmol/L, respectively for each biomarker, may indicate need for mechanical ventilation with an AUC of 0.721 and 0.746 at admission and 0.738 and 0.753 at 24-36 hours, respectively but without statistical differences. Pro-adrenomedullin and procalcitonin showed statistically significant high values in patients with bacterial infections.ConclusionsAfter bypass, pro-adrenomedullin and pro-atrial natriuretic peptide are suitable biomarkers to predict the need for mechanical ventilation. Physicians should be alert if the values of these markers are high so as not to progress to early extubation. Procalcitonin is useful for predicting bacterial infection. This is a preliminary study and more clinical studies should be done to confirm the value of pro-adrenomedullin and pro-atrial natriuretic peptide as biomarkers after cardiopulmonary bypass.

Published
2019
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