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474 results on '"Arroyo, Maria"'

104. New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients

Author

Pérez‐Grijalba, Virginia, primary, García‐Oguiza, Alberto, additional, López, María, additional, Armstrong, Judith, additional, García‐Miñaur, Sixto, additional, Mesa‐Latorre, Jose María, additional, O'Callaghan, Mar, additional, Pineda Marfa, Mercé, additional, Ramos‐Arroyo, Maria Antonia, additional, Santos‐Simarro, Fernando, additional, Seidel, Verónica, additional, and Domínguez‐Garrido, Elena, additional

Published
2019
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108. Arterial tortuosity syndrome: 40 new families and literature review

Author

Beyens, Aude, primary, Albuisson, Juliette, additional, Boel, Annekatrien, additional, Al-Essa, Mazen, additional, Al-Manea, Waheed, additional, Bonnet, Damien, additional, Bostan, Ozlem, additional, Boute, Odile, additional, Busa, Tiffany, additional, Canham, Nathalie, additional, Cil, Ergun, additional, Coucke, Paul J., additional, Cousin, Margot A., additional, Dasouki, Majed, additional, De Backer, Julie, additional, De Paepe, Anne, additional, De Schepper, Sofie, additional, De Silva, Deepthi, additional, Devriendt, Koenraad, additional, De Wandele, Inge, additional, Deyle, David R., additional, Dietz, Harry, additional, Dupuis-Girod, Sophie, additional, Fontenot, Eudice, additional, Fischer-Zirnsak, Björn, additional, Gezdirici, Alper, additional, Ghoumid, Jamal, additional, Giuliano, Fabienne, additional, Diéz, Neus Baena, additional, Haider, Mohammed Z., additional, Hardin, Joshua S., additional, Jeunemaitre, Xavier, additional, Klee, Eric W., additional, Kornak, Uwe, additional, Landecho, Manuel F., additional, Legrand, Anne, additional, Loeys, Bart, additional, Lyonnet, Stanislas, additional, Michael, Helen, additional, Moceri, Pamela, additional, Mohammed, Shehla, additional, Muiño-Mosquera, Laura, additional, Nampoothiri, Sheela, additional, Pichler, Karin, additional, Prescott, Katrina, additional, Rajeb, Anna, additional, Ramos-Arroyo, Maria, additional, Rossi, Massimiliano, additional, Salih, Mustafa, additional, Seidahmed, Mohammed Z., additional, Schaefer, Elise, additional, Steichen-Gersdorf, Elisabeth, additional, Temel, Sehime, additional, Uysal, Fahrettin, additional, Vanhomwegen, Marine, additional, Van Laer, Lut, additional, Van Maldergem, Lionel, additional, Warner, David, additional, Willaert, Andy, additional, Collins, Tom R., additional, Taylor, Andrea, additional, Davis, Elaine C., additional, Zarate, Yuri, additional, and Callewaert, Bert, additional

Published
2018
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113. Entre la vigilia y el sueño :$bsoñar en el Siglo de Oro /$cMaría V. Jordán Arroyo.

Author

Jordán Arroyo, María V. and Jordán Arroyo, María V.

Subjects
Dream interpretation--Spain--History--17th century, Spanish literature--Classical period, 1500-1700--History and criticism, Dream interpretation--Spain--History--16th century, Dreams--Spain--History--16th century, Dreams--Spain--History--17th century, Dreams in literature
Abstract

Durante los siglos XVI y XVII los sueños asumieron un rol protagónico en la cultura occidental, dejando un vasto corpus de literatura dedicada al tema. En el contexto español y novohispano esa producción incluye manuales de oniromancia, tratados contra las supersticiones, relatos, profecías oníricas, reflexiones filosóficas y obras médicas, sin contar la relevancia de los sueños en la literatura áurea.Generalmente, cuando se piensa en el mundo de los sueños y de los ensueños hay una tendencia a separarlos de la realidad en la que vivimos. Este estudio sobre los sueños en la España del Siglo de Oro cuestiona esta idea. Sus conclusiones se basan en el examen de las actitudes oficiales y las formas de control de los poderes vigentes en la época por dirigir y definir los límites del imaginario onírico, así como en el examen de manuscritos de soñadores de carne y hueso que crearon discursos oníricos o pseudo-oníricos como formas de reaccionar críticamente ante sus realidades. Ese carácter creativo del relato onírico, materializado en discursos o textos, conduce al ambicioso esfuerzo de unir algunos aspectos y usos del sueño literario llevado a cabo por autores de la prominencia de Cervantes y Calderón de la Barca con el desarrollado por soñadores populares.El fenómeno de los sueños se ha analizado principalmente desde campos de estudio separados; por el contrario, este trabajo aborda el tema con un enfoque interdisciplinario, al examinar las reflexiones que desde distintos ámbitos (teológicos, científicos, literarios y políticos) se hicieron, con el objetivo de ofrecer una comprensión más cabal del asunto, y con la propuesta de sacar todo relato onírico de su absoluta inocencia.

Published
2017

114. NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers

Author

Tommerup, Niels, Fonseca, Ana Carolina, Mehrjouy, Mana, Rasmussen, Malene B., Bache, Iben, Halgren, Christina, Kroisel, Peter, Midyan, Susanna, Vermeesch, Joris, Vianna-Morgante, Angela M., Abe, Kikue T., Moretti-Ferreira, Danilo, Paskulin, Giorgio, Angelova, Lyudmila, Rajcan-Separovic, Evica, Sismani, Carolina, Sedlacek, Zdenek, Fagerberg, Christina, Brondum-Nielsen, Karen, Vogel, Ida, Bojesen, Anders, KATRIN OUNAP, Roht, Laura, Varilo, Teppo, Luukkonen, Tiia, Lespinasse, James, Beneteau, Claire, Kalscheuer, Vera M., Ehmke, Nadja, Daumer-Haas, Cornelia, Stefanou, Eunice G., Marta Czako, Kosztolanyi, Gyorgy, Sheth, Frenny, Zuffardi, Orsetta, Bonaglia, Clara, Novelli, Antonio, Fannemel, Madeleine, Dias, Patricia, Kokalj-Vokac, Nadja, Ramos-Arroyo, Maria A., Rodriguez Martinez, Laura, Guitart, Miriam, Schinzel, Albert, Engelen, John, Silan, Fatma, Akkari, Yassmine, Batanian, Jacqueline R., Kim, Hyung-Goo, Aristidou, Constantia, Almeida, Cynthia, Lewis, Suzanne, Moreno-Igoa, Maria, Hovhannisyan, Anna, Jacky, Peter, and Bak, Mads

Published
2017

115. Dana Fritz inspirada por la naturaleza

Author

Blanco Arroyo, Maria Antonia, Repositório da Universidade de Lisboa, Universidad de Sevilla. Departamento de Escultura e Historia de las Artes Plásticas, and HUM 950: CONTEMPORANEIDAD Y PATRIMONIO

Subjects
Naturaleza, Crítica e interpretação, Arte contemporânea - Estados Unidos da América, Natureza, Transformación, Fritz, Dana, 1970, Fotografía, Transformações
Abstract

Submitted by Licínia Santos (biblioteca@fba.ul.pt) on 2017-10-25T16:01:04Z No. of bitstreams: 2 ULFBA_C_v5_iss9.jpg: 53339 bytes, checksum: faa7bcad37cb069b46354dccf6e51bd7 (MD5) ULFBA_C_v5_iss9_p64-70.pdf: 752138 bytes, checksum: 8baeee47611e377cf84c64d2ca0794f4 (MD5) Made available in DSpace on 2017-10-25T16:01:04Z (GMT). No. of bitstreams: 2 ULFBA_C_v5_iss9.jpg: 53339 bytes, checksum: faa7bcad37cb069b46354dccf6e51bd7 (MD5) ULFBA_C_v5_iss9_p64-70.pdf: 752138 bytes, checksum: 8baeee47611e377cf84c64d2ca0794f4 (MD5) Previous issue date: 2017-01 info:eu-repo/semantics/publishedVersion

Published
2017

116. Políticas educativas para la integración de las TIC en el sistema educativo. El caso de Extremadura

Author

Valverde Berrocoso, Jesús, Coordinador, Garrido Arroyo, María del Carmen, Fernández Sánchez, María Rosa, Sosa Díaz, María José, Revuelta Domínguez, Francisco Ignacio, Arriazu Muñoz, Rubén, Rosado Castela, Francisco Javier, Montero Melchor, Jesús, López Andrada, Concepción, Valverde Berrocoso, Jesús, Garrido Arroyo, María del Carmen, Fernández Sánchez, María Rosa, Sosa Díaz, María José, Revuelta Domínguez, Francisco Ignacio, Arriazu Muñoz, Rubén, Rosado Castela, Francisco Javier, Montero Melchor, Jesús, and López Andrada, Concepción

Published
2014
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117. EMPOWERMENT ISSUES IN JAPAN'S CARE INDUSTRY: NARRATIVES OF FILIPINO NURSES AND CARE WORKERS UNDER THE ECONOMIC PARTNERSHIP AGREEMENT (EPA) LABOUR SCHEME.

Author

Vilog, Ron Bridget T., Arroyo, Maria Keren Happuch D., and Raquinio, Tezla Gael G.

Abstract

Japan has been accepting foreign nurses and care workers through an Economic Partnership Agreement (EPA) with the Philippines, Indonesia and Vietnam. For more than ten years of its implementation, the EPA framework with the Philippines has confronted tremendous political hurdles from conservative politicians, groups and non-state agents which oppose the free trans-border flow of health workers. The lack of holistic state support has affected the implementation of the labour scheme under the Philippine-Japan Economic Partnership Agreement (PJEPA). In fact, majority of the nurses and care workers have failed the Japanese licensure examination, and an alarming percentage has decided to return to the Philippines after several years of training. Such trends indicate the failure of PJEPA to achieve a sustainable and mutually benefiting migration project. It is therefore imperative to examine the causes of this failure from the viewpoint of nursing and care delivery discourses. This paper contributes to the emerging literature that investigate EPAs and labour migration, with particular focus on the labour conditions and migrant decisions of individual care providers. Rethinking the concept of empowerment, we argue that the migration management regime, manifested in state's healthcare policies and governance mechanism has been lacking meaningful support and guidance to the healthcare facilities, which translates to workers' structural disempowerment. Nurses and care workers contest their dignity of labour, negotiate their experiences of deskilling, and seek strategies to survive the system. Disempowerment clearly impacts on individual migrant decisions, challenging established mechanisms and threatening the entire migration system to fail. [ABSTRACT FROM AUTHOR]

Published
2020
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118. Correction: Arterial tortuosity syndrome: 40 new families and literature review

Author

Beyens, Aude, primary, Albuisson, Juliette, additional, Boel, Annekatrien, additional, Al-Essa, Mazen, additional, Al-Manea, Waheed, additional, Bonnet, Damien, additional, Bostan, Ozlem, additional, Boute, Odile, additional, Busa, Tiffany, additional, Canham, Nathalie, additional, Cil, Ergun, additional, Coucke, Paul J., additional, Cousin, Margot A., additional, Dasouki, Majed, additional, De Backer, Julie, additional, De Paepe, Anne, additional, De Schepper, Sofie, additional, De Silva, Deepthi, additional, Devriendt, Koenraad, additional, De Wandele, Inge, additional, Deyle, David R., additional, Dietz, Harry, additional, Dupuis-Girod, Sophie, additional, Fontenot, Eudice, additional, Fischer-Zirnsak, Björn, additional, Gezdirici, Alper, additional, Ghoumid, Jamal, additional, Giuliano, Fabienne, additional, Baena, Neus, additional, Haider, Mohammed Z., additional, Hardin, Joshua S., additional, Jeunemaitre, Xavier, additional, Klee, Eric W., additional, Kornak, Uwe, additional, Landecho, Manuel F., additional, Legrand, Anne, additional, Loeys, Bart, additional, Lyonnet, Stanislas, additional, Michael, Helen, additional, Moceri, Pamela, additional, Mohammed, Shehla, additional, Muiño-Mosquera, Laura, additional, Nampoothiri, Sheela, additional, Pichler, Karin, additional, Prescott, Katrina, additional, Rajeb, Anna, additional, Ramos-Arroyo, Maria, additional, Rossi, Massimiliano, additional, Salih, Mustafa, additional, Seidahmed, Mohammed Z., additional, Schaefer, Elise, additional, Steichen-Gersdorf, Elisabeth, additional, Temel, Sehime, additional, Uysal, Fahrettin, additional, Vanhomwegen, Marine, additional, Van Laer, Lut, additional, Van Maldergem, Lionel, additional, Warner, David, additional, Willaert, Andy, additional, Collins II, Tom R., additional, Taylor, Andrea, additional, Davis, Elaine C., additional, Zarate, Yuri, additional, and Callewaert, Bert, additional

Published
2018
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119. THE LINK BETWEEN BRUXISM AND HEADACHES

Author

Capetillo Hernández, Guadalupe R., primary, Torres, Evelyn Guadalupe, additional, Roesch, Laura, additional, Flores Aguilar, Silvia G., additional, Tiburcio Morteo, Leticia, additional, Mantilla, Manuel, additional, Moreno, Flora, additional, Peñaflor, Estela, additional, Arroyo, Maria, additional, and Montejo, Diana, additional

Published
2018
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123. Acute Meningitis by Streptococcus suis

Author

Corrales-Arroyo, Maria-Jesus, Real-Francia, Maria Angeles Del, Hernandez-Gonzalez, Amalia, Lopez-Gallardo, Gema, Puebla, Jose Manuel Morales, and Caston-Osorio, Juan Jose

Subjects
Streptococcus suis, Complementary and alternative medicine, Health Care Sciences and Services, deafness, lcsh:QR1-502, meningitis, Pharmaceutical Science, Pharmacology (medical), Sağlık Bilimleri ve Hizmetleri, meningitis,streptococus, lcsh:Microbiology
Abstract

Maria-Jesus Corrales-Arroyo, Maria Angeles Del Real-Francia, Amalia Hernandez-Gonzalez, Gema Lopez-Gallardo, Jose Manuel Morales Puebla, Juan Jose Caston-Osorio Streptococcus suis is a coccus Gram positive, anaerobic optional. Human infection by this microorganism is a zoonotic disease that usually presents as purulent meningitis. Mortality is low but is common sequelae. A case of meningitis by S. suis secondary to contact with pigs is presented here. A 35-year-old male patient was admitted to the hospital complaining of high fever, malaise, vomiting and headache. A physical examination revealed decreased level of consciousness, with adequate response to painful stimulus and his eyes with deconjugated gaze. S. suis was isolated in blood culture. He was treated with cefotaxime, vancomycin and acyclovir in the intensive care unit. He experienced progressive improvement. He was discharged with severe deafness and a minimally unstable gait as sequellae.

Published
2015

124. Colaboradores

Author

Carrión, Jesús Abrisqueta, Mérida, M.<ce:sup loc='post">a</ce:sup> Asunción Acosta, Zapag, Rubén Aguilar, López, Cándido Fernando Alcázar, Gago, Felipe Alconchel, Gómez, Jaime Alonso, Torres, Víctor Amado, Ródenas, Gonzalo Antón, Narváez, José Manuel Aranda, Areizaga, Nerea, de Aretxabala Urquiza, Xabier, Sánchez, Álvaro Arjona, García, Manuel Arrieta, Balibrea del Castillo, José M., Buendía, Javier Jesús Barambio, Shaw, Antonio Barrasa, Guillén, María Inmaculada Bermejo, Arias, Jorge Bonnin, Esteban, Marcos Bruna, Brusadin, Roberto, Amaro, Alicia Calero, Cascales-Campos, Pedro Antonio, Escrig, Gregorio Castellanos, Pla, Ana Conesa, Guiral, Delia Cortés, Craus-Miguel, Andrea, Medina, David Daroch, García, Ana Delegido, Lara, Carlos Díaz, Giménez-Rico, Hipólito Durán, Valenzuela, Juan Egea, Verdaguer, Laia Falgueras, Hernández, Juan Ángel Fernández, Llamas, Tania Fernández, Fernández-Vega, Laura, Rosique, Juan Ángel Ferrer, Martínez, David Ferreras, Ayala, Edgar Guillermo Flores, Campello, Mariano Franco, Frasson, Matteo, Fratantoni, Maria Eugenia, Bernal, M.<ce:sup loc='post">a</ce:sup> Dolores Frutos, García-Granero, Álvaro, Marín, Ana Victoria García, García Soto, Miguel A., Gómez, Elena Gil, Martínez, José Gil, Pérez, Beatriz Gómez, Portilla, Alberto Gómez, Ruiz, Álvaro Gómez, Gil, Alida González, Guerra Romero, Adriana R., Delgado, María Pilar Gutiérrez, Villafranca, Sergio Hernández, Cánovas, Noelia Ibáñez, de los Galanes Marchán, Santos Jiménez, Francisco, Javier Lacueva, de Lacy Fortuny, Antonio M., Rodríguez, María Lapeña, Casajuana, Félix Lluís, Ben, Santiago López, Conesa, Asunción López, López, Víctor López, Rodríguez, Pedro Marín, Martín, Ernesto, Martínez de Haro, Luisa F., Mazza, Oscar María, Requena, Paola Melgar, Navarro, Belén Merck, López, María José Mesa, Oliver, Isabel Mora, Morales-Soriano, Rafael, Fernández, José Antonio Morilla, Fernández, Claudia Mulas, Ruiz, Vicente Munítiz, Casares, Francisco Cristóbal Muñoz, Barrios, Álvaro Navarro, López, Tatiana Nicolás, Ripoll, Vicente Olivares, Arroyo, María Pilar Orihuela, Sabater, Antonio Ortega, Escandell, M.<ce:sup loc='post">a</ce:sup> Ángeles Ortiz, Carmona, Álvaro Otálora, Ruiz, Francisco Javier Padillo, Luque, Pablo Palomino, Paricio, Pascual Parrilla, Pena, Romina, Peralta, Nadia Celeste, Reyes, María Pérez, Zapata, Ana Isabel Pérez, Perrotta Martinez, Francisco M., Pineño-Flores, Cristina, Madrona, Antonio Piñero, Carro, José Luis Porrero, Guerrero, Belén Porrero, Varela, Mauro Porto, Romaguera, Vicent Primo, Gamarro, Marina Puya, Collazo, Yolanda Quijano, Rubio, Juan Manuel Quiñonero, Castro, Raisa Quiñones, Ramírez Plaza, César P., Romero, Marcelo Sebastián Ramírez, Sotomayor, Julio Ramírez, Valdivia, Elisabeth Reichmann, Mínguez, Daniel Riado, Campos, Ricardo Robles, Laiz, Gonzalo Rodríguez, Moncada, Rafael Rodríguez, Ortiz, Lidia Rodríguez, de Angulo Martín, David Ruiz, Ortí, Luis Sabater, Arévalo, Lina Sanabria, Argüeso, Arsenio Sánchez, Hidalgo, Juan Manuel Sánchez, Martínez, Ana Sánchez, Segura-Sampedro, Juan José, Barbosa, Diego Sierra, Rodríguez, José Silvestre, Vaccaro, Carlos A., Valverde-Navarro, Alfonso A., López, Emilio Vicente, Lucas, Carmen Villar, Alegre, Santiago Vivas, and Gulino, Patricia Zarza

Published
2020
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125. Identifying temporary housing main vertexes through assessing post-disaster recovery programs

Author

Hosseini, Seyed Mohammad Amin, Pons Valladares, Oriol, Mendoza Arroyo, Maria del Carmen, Fuente Antequera, Albert de la, Universitat Politècnica de Catalunya. Departament de Tecnologia de l'Arquitectura, Universitat Politècnica de Catalunya. Departament d'Enginyeria Civil i Ambiental, Universitat Politècnica de Catalunya. LiTA - Laboratori d'Innovació i Tecnologia en l'Arquitectura, and Universitat Politècnica de Catalunya. EC - Enginyeria de la Construcció

Subjects
Post disaster temposary accommodation, Habitatge d'emergència, Arquitectura::Tipologies d'edificis [Àrees temàtiques de la UPC], Urban resilence, Local characteristic, Buildings -- Earthquake effects, Natural disaster, Natural disasters, Catàstrofes naturals, Emergency housing, Edificis -- Efecte dels terratrèmols
Abstract

In the aftermath of a natural disaster, the major challenge most cities and societies face, regardless of their diverse level of prosperity, is to provide temporary housing (TH) for the displaced population (DP). However, the features of TH, which have been applied in previous recovery programs, greatly varied from case to case. This situation demonstrates that providing temporary accommodation for DP in a short period time and usually in great numbers is complicated in terms of satisfying all the beneficiaries’ needs, regardless of the societies’ welfare levels. Furthermore, when previously used strategies are applied to different areas, the chosen strategies are most likely destined to fail, unless the strategies are context and culturally based. Therefore, as the population of disaster-prone cities are increasing, decision-makers need a platform to help to determine all the factors, which caused the outcomes of the prior programs. To this end, this paper aims to assess the problems, requirements, limitations, potential responses, chosen strategies, and their outcomes, in order to determine the main elements that have influenced the TH process. In this regard, and in order to determine a customizable strategy, this study analyses the TH programs of five different cases as: Marmara earthquake, 1999; Bam earthquake, 2003; Aceh earthquake and tsunami, 2004; Hurricane Katrina, 2005; and, L’Aquila earthquake, 2009. The research results demonstrate that the main vertexes of TH are: (1) local characteristics, including local potential and affected population features, (2) TH properties, which needs to be considered in four phases: planning, provision/construction, operation, and second life, and (3) natural hazards impacts, which embraces intensity and type. Accordingly, this study offers decision-makers the opportunity to discover the main vertexes, their subsets, interactions, and the relation between strategies and outcomes based on the local conditions of each case. Consequently, authorities may acquire the capability to design a customizable method in the face of complicated post-disaster housing in the wake of future natural disasters.

Published
2016

126. APLICACIÓN DE UN PROGRAMA DE INTERVENCIÓN PARA MEJORAR LA COMPRENSIÓN TÁCTICA EN FÚTBOL SALA: UN ESTUDIO EN CONTEXTO EDUCATIVO

Author

Pizarro, Alba Praxédes, González, Luis García, Cortés, Álvaro Moreno, Arroyo, Maria Perla Moreno, and Domínguez, Alberto Moreno

Subjects
Learning. Indoor football. Evaluation, Aprendizagem. Futsal. Avaliação, Aprendizaje. Fútbol sala. Evaluación
Abstract

The purpose of the study was to analyse the effects of a Comprehensive Teaching Programme on decision-making and execution, pass and dribbling actions in indoor football within an educational context. Participants were 21 students aged 12-14. Independent variables were the intervention program based on the “Teaching Games for Understanding (TGfU)” model and the experience in federated indoor football. Decision-making and execution variables were assessed through the observation instrument “Game Performance Evaluation Tool (GPET)”. The results show significant improvement in decision making for pass after the application of the program to the unexperienced group; however, those differences were not found in the experienced group. The results point out the need to adjust and individualize learning tasks in the educational context, depending on students’ skill level., El objetivo del presente estudio fue analizar el efecto de un programa de Enseñanza Comprensiva sobre la toma de decisiones y ejecución del pase y de la conducción en el fútbol sala en un contexto educativo. Participaron 21 alumnos con edades comprendidas entre los 12 y los 14 años. Las variables independientes fueron el programa de intervención basado en el modelo Teaching Games for Understanding (TGFU) y la experiencia en fútbol sala federado. Las variables de toma de decisiones y ejecución fueron evaluadas a través del instrumento de observación Game Performance Evaluation Tool (GPET). Los resultados mostraron una mejoría significativa en la toma de decisión del pase en el grupo sin experiencia tras la aplicación del programa. Sin embargo, en el grupo con experiencia no fueron encontradas diferencias en ninguna de las variables. Los resultados destacan la necesidad de establecer adaptaciones e individualizar las tareas de aprendizaje., O objetivo deste estudo foi analisar o efeito de um Programa de Ensino Compreensivo na tomada de decisões e execução do passe e das ações de drible em futsal num contexto educativo. Participaram 21 alunos com idades entre 12 e 14 anos. As variáveis independentes foram o programa de intervenção baseado no modelo Teaching Games for Understanding (TGFU) e a experiência no futsal federado. As variáveis de tomada de decisão e de execução, foram avaliadas através do instrumento de observação Game Performance Evaluation Tool (GPET). Os resultados mostraram uma melhoria significativa na tomada de decisão do passe no grupo sem experiência após a aplicação do programa. No entanto, no grupo com experiência não foram encontradas diferenças em nenhuma das variáveis. Os resultados destacam a necessidade de estabelecer adaptações e individualizar as tarefas de aprendizagem no contexto educativo, em função do nível de habilidade dos alunos.

Published
2015

127. Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1

Author

Mitter, Diana, Delle Chiaie, Barbara, Lüdecke, Hermann-Josef, Gillessen-Kaesbach, Gabriele, Bohring, Axel, Kohlhase, Jürgen, Caliebe, Almuth, Siebert, Reiner, Röpke, Albrecht, Ramos-Arroyo, Maria A., Nieva, Beatriz, Menten, Björn, Loeys, Bart, Mortier, Geert, Wieczorek, Dagmar, and Chiaie, Barbara Delle

Subjects
Adult, Male, Microcephaly, Foot Deformities, Congenital, Medizin, Biology, Craniosynostosis, Pregnancy, Genotype, Genetics, medicine, Humans, Syndactyly, Child, Genetic Association Studies, Genetics (clinical), Comparative Genomic Hybridization, Polydactyly, Infant, Newborn, Infant, Chromosome Breakage, medicine.disease, Phenotype, Radiography, Child, Preschool, Chromosomes, Human, Pair 2, Karyotyping, Female, Chromosome Deletion, Chromosome breakage, Hand Deformities, Congenital, Comparative genomic hybridization
Abstract

Microdeletions of the 2q31.1 region are rare. We present the clinical and molecular findings of eight previously unreported patients with overlapping deletions in 2q31.1. The patients have a variable clinical phenotype and present with developmental delay (7/8), growth retardation (5/8), seizures (2/8) and a craniofacial dysmorphism consisting of microcephaly (4/8), short palpebral fissures (7/8), broad eyebrows with lateral flare (7/8), low-set ears with thickened helices and lobules (5/8), and micrognathia (6/8). Additional congenital anomalies were noted, including limb abnormalities (8/8), heart defects (3/8), genital anomalies (3/8), and craniosynostosis (1/8). Six of these microdeletions, ranging in size from 1.24 to 8.35 Mb, were identified by array CGH, one larger deletion (19.7 Mb) was detected by conventional karyotyping and further characterized by array CGH analysis. The smallest region of overlap in all eight patients spans at most 88 kb and includes only the WIPF1 gene. This gene codes for the WAS/WASL interacting protein family member 1. The patients described here do not present with clinical signs of the Wiskott-Aldrich syndrome and the deletion of this single gene does not allow explaining the phenotype in our patients. It is likely that the deletion of different but overlapping sets of genes from 2q31 is responsible for the clinical variability in these patients. To further dissect the complex phenotype associated with deletions in 2q31, additional patients with overlapping phenotypes should be examined with array CGH. This should help to link particular phenotypes to specific genes, and add to our understanding of the underlying developmental processes.

Published
2010

129. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Author

Moss, Davina J Hensman, primary, Pardiñas, Antonio F, additional, Langbehn, Douglas, additional, Lo, Kitty, additional, Leavitt, Blair R, additional, Roos, Raymund, additional, Durr, Alexandra, additional, Mead, Simon, additional, Holmans, Peter, additional, Jones, Lesley, additional, Tabrizi, Sarah J, additional, Coleman, A, additional, Santos, R Dar, additional, Decolongon, J, additional, Sturrock, A, additional, Bardinet, E, additional, Ret, C Jauff, additional, Justo, D, additional, Lehericy, S, additional, Marelli, C, additional, Nigaud, K, additional, Valabrègue, R, additional, van den Bogaard, SJA, additional, Dumas, E M, additional, van der Grond, J, additional, t'Hart, EP, additional, Jurgens, C, additional, Witjes-Ane, M-N, additional, Arran, N, additional, Callaghan, J, additional, Stopford, C, additional, Frost, C, additional, Jones, R, additional, Hobbs, N, additional, Lahiri, N, additional, Ordidge, R, additional, Owen, G, additional, Pepple, T, additional, Read, J, additional, Say, M, additional, Wild, E, additional, Patel, A, additional, Fox, N C, additional, Gibbard, C, additional, Malone, I, additional, Crawford, H, additional, Whitehead, D, additional, Keenan, S, additional, Cash, D M, additional, Berna, C, additional, Bechtel, N, additional, Bohlen, S, additional, Man, A Hoff, additional, Kraus, P, additional, Axelson, E, additional, Wang, C, additional, Acharya, T, additional, Lee, S, additional, Monaco, W, additional, Campbell, C, additional, Queller, S, additional, Whitlock, K, additional, Campbell, M, additional, Frajman, E, additional, Milchman, C, additional, O'Regan, A, additional, Labuschagne, I, additional, Stout, J, additional, Landwehrmeyer, B, additional, Craufurd, D, additional, Scahill, R, additional, Hicks, S, additional, Kennard, C, additional, Johnson, H, additional, Tobin, A, additional, Rosas, HD, additional, Reilmann, R, additional, Borowsky, B, additional, Pourchot, C, additional, Andrews, S C, additional, Bachoud-Lévi, Anne-Catherine, additional, Bentivoglio, Anna Rita, additional, Biunno, Ida, additional, Bonelli, Raphael, additional, Burgunder, Jean-Marc, additional, Dunnett, Stephen, additional, Ferreira, Joaquim, additional, Handley, Olivia, additional, Heiberg, Arvid, additional, Illmann, Torsten, additional, Landwehrmeyer, G. Bernhard, additional, Levey, Jamie, additional, Ramos-Arroyo, Maria A., additional, Nielsen, Jørgen, additional, Koivisto, Susana Pro, additional, Päivärinta, Markku, additional, Roos, Raymund A.C., additional, Sebastián, A Rojo, additional, Tabrizi, Sarah, additional, Vandenberghe, Wim, additional, Verellen-Dumoulin, Christine, additional, Uhrova, Tereza, additional, Wahlström, Jan, additional, Zaremba, Jacek, additional, Baake, Verena, additional, Barth, Katrin, additional, Garde, Monica Bascuñana, additional, Betz, Sabrina, additional, Bos, Reineke, additional, Callaghan, Jenny, additional, Come, Adrien, additional, Guedes, Leonor Correia, additional, Ecker, Daniel, additional, Finisterra, Ana Maria, additional, Fullam, Ruth, additional, Gilling, Mette, additional, Gustafsson, Lena, additional, Handley, Olivia J, additional, Hvalstedt, Carina, additional, Held, Christine, additional, Koppers, Kerstin, additional, Lamanna, Claudia, additional, Laurà, Matilde, additional, Descals, Asunción Martínez, additional, Martinez-Horta, Saül, additional, Mestre, Tiago, additional, Minster, Sara, additional, Monza, Daniela, additional, Mütze, Lisanne, additional, Oehmen, Martin, additional, Orth, Michael, additional, Padieu, Hélène, additional, Paterski, Laurent, additional, Peppa, Nadia, additional, Di Renzo, Martina, additional, Rialland, Amandine, additional, Røren, Niini, additional, Šašinková, Pavla, additional, Timewell, Erika, additional, Townhill, Jenny, additional, Cubillo, Patricia Trigo, additional, da Silva, Wildson Vieira, additional, van Walsem, Marleen R, additional, Whalstedt, Carina, additional, Witjes-Ané, Marie-Noelle, additional, Witkowski, Grzegorz, additional, Wright, Abigail, additional, Zielonka, Daniel, additional, Zielonka, Eugeniusz, additional, Zinzi, Paola, additional, Bonelli, Raphael M., additional, Lilek, Sabine, additional, Hecht, Karen, additional, Herranhof, Brigitte, additional, Holl, Anna, additional, Kapfhammer, Hans-Peter, additional, Koppitz, Michael, additional, Magnet, Markus, additional, Müller, Nicole, additional, Otti, Daniela, additional, Painold, Annamaria, additional, Reisinger, Karin, additional, Scheibl, Monika, additional, Schöggl, Helmut, additional, Ullah, Jasmin, additional, Braunwarth, Eva-Maria, additional, Brugger, Florian, additional, Buratti, Lisa, additional, Hametner, Eva-Maria, additional, Hepperger, Caroline, additional, Holas, Christiane, additional, Hotter, Anna, additional, Hussl, Anna, additional, Müller, Christoph, additional, Poewe, Werner, additional, Seppi, Klaus, additional, Sprenger, Fabienne, additional, Wenning, Gregor, additional, Boogaerts, Andrea, additional, Calmeyn, Godelinde, additional, Delvaux, Isabelle, additional, Liessens, Dirk, additional, Somers, Nele, additional, Dupuit, Michel, additional, Minet, Cécile, additional, van Paemel, Dominique, additional, Ribaï, Pascale, additional, van Reijen, Dimphna, additional, Klempír, Jirí, additional, Majerová, Veronika, additional, Roth, Jan, additional, Stárková, Irena, additional, Hjermind, Lena E., additional, Jacobsen, Oda, additional, Nielsen, Jørgen E., additional, Larsen, Ida Unmack, additional, Vinther-Jensen, Tua, additional, Hiivola, Heli, additional, Hyppönen, Hannele, additional, Martikainen, Kirsti, additional, Tuuha, Katri, additional, Allain, Philippe, additional, Bonneau, Dominique, additional, Bost, Marie, additional, Gohier, Bénédicte, additional, Guérid, Marie-Anne, additional, Olivier, Audrey, additional, Prundean, Adriana, additional, Scherer-Gagou, Clarisse, additional, Verny, Christophe, additional, Babiloni, Blandine, additional, Debruxelles, Sabrina, additional, Duché, Charlotte, additional, Goizet, Cyril, additional, Jameau, Laetitia, additional, Lafoucrière, Danielle, additional, Spampinato, Umberto, additional, Barthélémy, Rekha, additional, De Bruycker, Christelle, additional, Carette, Maryline Cabaret Anne-Sophie, additional, Defebvre, Eric Decorte Luc, additional, Delliaux, Marie, additional, Delval, Arnaud, additional, Destee, Alain, additional, Dujardin, Kathy, additional, Lemaire, Marie-Hélène, additional, Manouvrier, Sylvie, additional, Peter, Mireille, additional, Plomhouse, Lucie, additional, Sablonnière, Bernard, additional, Simonin, Clémence, additional, Thibault-Tanchou, Stéphanie, additional, Vuillaume, Isabelle, additional, Bellonet, Marcellin, additional, Berrissoul, Hassan, additional, Blin, Stéphanie, additional, Courtin, Françoise, additional, Duru, Cécile, additional, Fasquel, Véronique, additional, Godefroy, Olivier, additional, Krystkowiak, Pierre, additional, Mantaux, Béatrice, additional, Roussel, Martine, additional, Wannepain, Sandrine, additional, Azulay, Jean-Philippe, additional, Delfini, Marie, additional, Eusebio, Alexandre, additional, Fluchere, Frédérique, additional, Mundler, Laura, additional, Anheim, Mathieu, additional, Julié, Celine, additional, Boukbiza, Ouhaid Lagha, additional, Longato, Nadine, additional, Rudolf, Gabrielle, additional, Tranchant, Christine, additional, Zimmermann, Marie-Agathe, additional, Kosinski, Christoph Michael, additional, Milkereit, Eva, additional, Probst, Daniela, additional, Reetz, Kathrin, additional, Sass, Christian, additional, Schiefer, Johannes, additional, Schlangen, Christiane, additional, Werner, Cornelius J., additional, Gelderblom, Harald, additional, Priller, Josef, additional, Prüß, Harald, additional, Spruth, Eike Jakob, additional, Ellrichmann, Gisa, additional, Herrmann, Lennard, additional, Hoffmann, Rainer, additional, Kaminski, Barbara, additional, Kotz, Peter, additional, Prehn, Christian, additional, Saft, Carsten, additional, Lange, Herwig, additional, Maiwald, Robert, additional, Löhle, Matthias, additional, Maass, Antonia, additional, Schmidt, Simone, additional, Bosredon, Cecile, additional, Storch, Alexander, additional, Wolz, Annett, additional, Wolz, Martin, additional, Capetian, Philipp, additional, Lambeck, Johann, additional, Zucker, Birgit, additional, Boelmans, Kai, additional, Ganos, Christos, additional, Heinicke, Walburgis, additional, Hidding, Ute, additional, Lewerenz, Jan, additional, Münchau, Alexander, additional, Schmalfeld, Jenny, additional, Stubbe, Lars, additional, Zittel, Simone, additional, Diercks, Gabriele, additional, Dressler, Dirk, additional, Gorzolla, Heike, additional, Schrader, Christoph, additional, Tacik, Pawel, additional, Ribbat, Michael, additional, Longinus, Bernhard, additional, Bürk, Katrin, additional, Möller, Jens Carsten, additional, Rissling, Ida, additional, Mühlau, Mark, additional, Peinemann, Alexander, additional, Städtler, Michael, additional, Weindl, Adolf, additional, Winkelmann, Juliane, additional, Ziegler, Cornelia, additional, Bechtel, Natalie, additional, Beckmann, Heike, additional, Bohlen, Stefan, additional, Hölzner, Eva, additional, Reilmann, Ralf, additional, Rohm, Stefanie, additional, Rumpf, Silke, additional, Schepers, Sigrun, additional, Weber, Natalia, additional, Dose, Matthias, additional, Leythäuser, Gabriele, additional, Marquard, Ralf, additional, Raab, Tina, additional, Wiedemann, Alexandra, additional, Buck, Andrea, additional, Connemann, Julia, additional, Geitner, Carolin, additional, Kesse, Andrea, additional, Landwehrmeyer, Bernhard, additional, Lang, Christina, additional, Lezius, Franziska, additional, Nepper, Solveig, additional, Niess, Anke, additional, Schneider, Ariane, additional, Schwenk, Daniela, additional, Süßmuth, Sigurd, additional, Trautmann, Sonja, additional, Weydt, Patrick, additional, Cormio, Claudia, additional, Sciruicchio, Vittorio, additional, Serpino, Claudia, additional, de Tommaso, Marina, additional, Capellari, Sabina, additional, Cortelli, Pietro, additional, Galassi, Roberto, additional, Rizzo, Giovanni, additional, Poda, Roberto, additional, Scaglione, Cesa, additional, Bertini, Elisabetta, additional, Ghelli, Elena, additional, Ginestroni, Andrea, additional, Massaro, Francesca, additional, Mechi, Claudia, additional, Paganini, Marco, additional, Piacentini, Silvia, additional, Pradella, Silvia, additional, Romoli, Anna Maria, additional, Sorbi, Sandro, additional, Abbruzzese, Giovanni, additional, di Poggio, Monica Bandettini, additional, Ferrandes, Giovanna, additional, Mandich, Paola, additional, Marchese, Roberta, additional, Albanese, Alberto, additional, Di Bella, Daniela, additional, Castaldo, Anna, additional, Di Donato, Stefano, additional, Gellera, Cinzia, additional, Genitrini, Silvia, additional, Mariotti, Caterina, additional, Nanetti, Lorenzo, additional, Paridi, Dominga, additional, Soliveri, Paola, additional, Tomasello, Chiara, additional, De Michele, Giuseppe, additional, Di Maio, Luigi, additional, Massarelli, Marco, additional, Peluso, Silvio, additional, Roca, Alessandro, additional, Russo, Cinzia Valeria, additional, Salvatore, Elena, additional, Sorrentino, Pierpaolo, additional, Amico, Enrico, additional, Favellato, Mariagrazia, additional, Griguoli, Annamaria, additional, Mazzante, Irene, additional, Petrollini, Martina, additional, Squitieri, Ferdinando, additional, D'Alessio, Barbara, additional, Esposito, Chiara, additional, Bentivoglio, Rita, additional, Frontali, Marina, additional, Guidubaldi, Arianna, additional, Ialongo, Tamara, additional, Jacopini, Gioia, additional, Piano, Carla, additional, Romano, Silvia, additional, Soleti, Francesco, additional, Spadaro, Maria, additional, van Hout, Monique S.E., additional, Verhoeven, Marloes E., additional, van Vugt, Jeroen P.P., additional, de Weert, A. Marit, additional, Bolwijn, J.J.W., additional, Dekker, M., additional, Kremer, B., additional, Leenders, K.L., additional, van Oostrom, J.C.H., additional, van den Bogaard, Simon J.A., additional, Dumas, Eve M., additional, 't Hart, Ellen P., additional, Kremer, Berry, additional, Verstappen, C.C.P., additional, Aaserud, Olaf, additional, C, Jan Frich, additional, Wehus, Ragnhild, additional, Bjørgo, Kathrine, additional, Fannemel, Madeleine, additional, Gørvell, Per F., additional, Lorentzen, Eirin, additional, Retterstøl, Lars, additional, Stokke, Bodil, additional, Bjørnevoll, Inga, additional, Sando, Sigrid Botne, additional, Dziadkiewicz, Artur, additional, Nowak, Malgorzata, additional, Robowski, Piotr, additional, Sitek, Emilia, additional, Slawek, Jaroslaw, additional, Soltan, Witold, additional, Szinwelski, Michal, additional, Blaszcyk, Magdalena, additional, Boczarska-Jedynak, Magdalena, additional, Ciach-Wysocka, Ewelina, additional, Gorzkowska, Agnieszka, additional, Jasinska-Myga, Barbara, additional, Klodowska-Duda, Gabriela, additional, Opala, Gregorz, additional, Stompel, Daniel, additional, Banaszkiewicz, Krzysztof, additional, Bocwinska, Dorota, additional, Bojakowska-Jaremek, Kamila, additional, Dec, Malgorzata, additional, Krawczyk, Malgorzata, additional, Rudzinska, Monika, additional, Szczygiel, Elzbieta, additional, Szczudlik, Andrzej, additional, Wasielewska, Anna, additional, Wójcik, Magdalena, additional, Bryl, Anna, additional, Ciesielska, Anna, additional, Klimberg, Aneta, additional, Marcinkowski, Jerzy, additional, Samara, Husam, additional, Sempolowicz, Justyna, additional, Gogol, Anna, additional, Janik, Piotr, additional, Kwiecinski, Hubert, additional, Jamrozik, Zygmunt, additional, Antczak, Jakub, additional, Jachinska, Katarzyna, additional, Krysa, Wioletta, additional, Rakowicz, Maryla, additional, Richter, Przemyslaw, additional, Rola, Rafal, additional, Ryglewicz, Danuta, additional, Sienkiewicz-Jarosz, Halina, additional, Stepniak, Iwona, additional, Sulek, Anna, additional, Zdzienicka, Elzbieta, additional, Zieora-Jakutowicz, Karolina, additional, Ferreira, Joaquim J, additional, Coelho, Miguel, additional, Mendes, Tiago, additional, Valadas, Anabela, additional, Andrade, Carlos, additional, Gago, Miguel, additional, Garrett, Carolina, additional, Guerra, Maria Rosália, additional, Herrera, Carmen Durán, additional, Garcia, Patrocinio Moreno, additional, Barbera, Miquel Aguilar, additional, Guia, Dolors Badenes, additional, Hernanz, Laura Casas, additional, Catena, Judit López, additional, Ferrer, Pilar Quiléz, additional, Sebastián, Ana Rojo, additional, Carruesco, Gemma Tome, additional, Bas, Jordi, additional, Busquets, Núria, additional, Calopa, Matilde, additional, Robert, Misericordia Floriach, additional, Viladrich, Celia Mareca, additional, Idiago, Jesús Miguel Ruiz, additional, Riballo, Antonio Villa, additional, Cubo, Esther, additional, Polo, Cecilia Gil, additional, Mariscal, Natividad, additional, Rivadeneyra, Perez Jessica, additional, Barrero, Francisco, additional, Morales, Blas, additional, Fenollar, María, additional, García, Rocío García-Ramos, additional, Ortega, Paloma, additional, Villanueva, Clara, additional, Alegre, Javier, additional, Bascuñana, Mónica, additional, Caldentey, Juan Garcia, additional, Ventura, Marta Fatás, additional, Ribas, Guillermo García, additional, de Yébenes, Justo García, additional, Moreno, José Luis López-Sendón, additional, Frech, Fernando Alonso, additional, Ruíz, Pedro J García, additional, Martínez-Descals, Asunción, additional, Guerrero, Rosa, additional, Artiga, María José Saiz, additional, Sánchez, Vicenta, additional, Perea, María Fuensanta Noguera, additional, Fortuna, Lorenza, additional, Manzanares, Salvadora, additional, Reinante, Gema, additional, Torres, María Martirio Antequera, additional, Moreau, Laura Vivancos, additional, González González, Sonia, additional, Guisasola, Luis Menéndez, additional, Salvador, Carlos, additional, Martín, Esther Suaréz San, additional, Ramirez, Inés Legarda, additional, Gorospe, Aranzazú, additional, Lopera, Mónica Rodriguez, additional, Arques, Penelope Navas, additional, Rodríguez, María José Torres, additional, Pastor, Barbara Vives, additional, Gaston, Itziar, additional, Martinez-Jaurrieta, Maria Dolores, additional, Moreno, Jose Manuel Garcia, additional, Lucena, Carolina Mendez, additional, Damas, Fatima, additional, Cortegana, Hermoso Eva Pacheco, additional, Peña, José Chacón, additional, Redondo, Luis, additional, Carrillo, Fátima, additional, Teresa Cáceres, María, additional, Mir, Pablo, additional, Suarez, María José Lama, additional, Vargas-González, Laura, additional, Bosca, Maria E., additional, Brugada, Francisco Castera, additional, Burguera, Juan Andres, additional, Campos, Anabel, additional, Vilaplana, Garcia Carmen Peiró, additional, Berglund, Peter, additional, Constantinescu, Radu, additional, Fredlund, Gunnel, additional, Høsterey-Ugander, Ulrika, additional, Linnsand, Petra, additional, Neleborn-Lingefjärd, Liselotte, additional, Wentzel, Magnus, additional, Loutfi, Ghada, additional, Olofsson, Carina, additional, Stattin, Eva-Lena, additional, Westman, Laila, additional, Wikström, Birgitta, additional, Stebler, Yanik, additional, Kaelin, Alain, additional, Romero, Irene, additional, Schüpbach, Michael, additional, Weber Zaugg, Sabine, additional, Hauer, Maria, additional, Gonzenbach, Roman, additional, Jung, Hans H., additional, Mihaylova, Violeta, additional, Petersen, Jens, additional, Jack, Roisin, additional, Matheson, Kirsty, additional, Miedzybrodzka, Zosia, additional, Rae, Daniela, additional, Simpson, Sheila A, additional, Summers, Fiona, additional, Ure, Alexandra, additional, Vaughan, Vivien, additional, Akhtar, Shahbana, additional, Crooks, Jenny, additional, Curtis, Adrienne, additional, de Souza, Jenny, additional, Piedad, John, additional, Rickards, Hugh, additional, Wright, Jan, additional, Coulthard, Elizabeth, additional, Gethin, Louise, additional, Hayward, Beverley, additional, Sieradzan, Kasia, additional, Armstrong, Matthew, additional, Barker, Roger A., additional, O'Keefe, Deidre, additional, Di Pietro, Anna, additional, Fisher, Kate, additional, Goodman, Anna, additional, Hill, Susan, additional, Kershaw, Ann, additional, Mason, Sarah, additional, Paterson, Nicole, additional, Raymond, Lucy, additional, Swain, Rachel, additional, Guzman, Natalie Valle, additional, Busse, Monica, additional, Butcher, Cynthia, additional, Clenaghan, Catherine, additional, Hunt, Sarah, additional, Jones, Una, additional, Khalil, Hanan, additional, Owen, Michael, additional, Price, Kathleen, additional, Rosser, Anne, additional, Edwards, Maureen, additional, Ho, Carrie, additional, Hughes, Teresa, additional, McGill, Marie, additional, Pearson, Pauline, additional, Porteous, Mary, additional, Smith, Paul, additional, Brockie, Peter, additional, Foster, Jillian, additional, Johns, Nicola, additional, McKenzie, Sue, additional, Rothery, Jean, additional, Thomas, Gareth, additional, Yates, Shona, additional, Burrows, Liz, additional, Chu, Carol, additional, Fletcher, Amy, additional, Gallantrae, Deena, additional, Hamer, Stephanie, additional, Harding, Alison, additional, Klöppel, Stefan, additional, Kraus, Alison, additional, Laver, Fiona, additional, Lewis, Monica, additional, Longthorpe, Mandy, additional, Markova, Ivana, additional, Raman, Ashok, additional, Robertson, Nicola, additional, Silva, Mark, additional, Thomson, Aileen, additional, Wild, Sue, additional, Yardumian, Pam, additional, Evans, Carole, additional, Gallentrae, Deena, additional, Hobson, Emma, additional, Jamieson, Stuart, additional, Musgrave, Hannah, additional, Rowett, Liz, additional, Toscano, Jean, additional, Bourne, Colin, additional, Clapton, Jackie, additional, Clayton, Carole, additional, Dipple, Heather, additional, Freire-Patino, Dawn, additional, Grant, Janet, additional, Gross, Diana, additional, Hallam, Caroline, additional, Middleton, Julia, additional, Murch, Ann, additional, Thompson, Catherine, additional, Alusi, Sundus, additional, Davies, Rhys, additional, Foy, Kevin, additional, Gerrans, Emily, additional, Pate, Louise, additional, Andrews, Thomasin, additional, Dougherty, Andrew, additional, Golding, Charlotte, additional, Kavalier, Fred, additional, Laing, Hana, additional, Lashwood, Alison, additional, Robertson, Dene, additional, Ruddy, Deborah, additional, Santhouse, Alastair, additional, Whaite, Anna, additional, Bruno, Stefania, additional, Doherty, Karen, additional, Haider, Salman, additional, Hensman, Davina, additional, Lahiri, Nayana, additional, Novak, Marianne, additional, Patel, Aakta, additional, Rosser, Elisabeth, additional, Taylor, Rachel, additional, Warner, Thomas, additional, Wild, Edward, additional, Arran, Natalie, additional, Bek, Judith, additional, Craufurd, David, additional, Hare, Marianne, additional, Howard, Liz, additional, Huson, Susan, additional, Johnson, Liz, additional, Jones, Mary, additional, Murphy, Helen, additional, Oughton, Emma, additional, Partington-Jones, Lucy, additional, Rogers, Dawn, additional, Sollom, Andrea, additional, Snowden, Julie, additional, Stopford, Cheryl, additional, Thompson, Jennifer, additional, Trender-Gerhard, Iris, additional, Verstraelen, Nichola, additional, Westmoreland, Leann, additional, Armstrong, Richard, additional, Dixon, Kathryn, additional, Nemeth, Andrea H, additional, Siuda, Gill, additional, Valentine, Ruth, additional, Harrison, David, additional, Hughes, Max, additional, Parkinson, Andrew, additional, Soltysiak, Beverley, additional, Bandmann, Oliver, additional, Bradbury, Alyson, additional, Gill, Paul, additional, Fairtlough, Helen, additional, Fillingham, Kay, additional, Foustanos, Isabella, additional, Kazoka, Mbombe, additional, O'Donovan, Kirsty, additional, Taylor, Cat, additional, Tidswell, Katherine, additional, Quarrell, Oliver, additional, Lau, Puay Ngoh, additional, Pica, Emmanul, additional, and Tan, Louis, additional

Published
2017
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130. Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

Author

Goos, Jacqueline A C, primary, Swagemakers, Sigrid M A, additional, Twigg, Stephen R F, additional, van Dooren, Marieke F, additional, Hoogeboom, A Jeannette M, additional, Beetz, Christian, additional, Günther, Sven, additional, Magielsen, Frank J, additional, Ockeloen, Charlotte W, additional, A Ramos-Arroyo, Maria, additional, Pfundt, Rolph, additional, Yntema, Helger G, additional, van der Spek, Peter J, additional, Stanier, Philip, additional, Wieczorek, Dagmar, additional, Wilkie, Andrew O M, additional, van den Ouweland, Ans M W, additional, Mathijssen, Irene M J, additional, and Hurst, Jane A, additional

Published
2017
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132. Collaborative monitoring of marine fauna

Author

Schleyer, Gustavo, primary, Cid, Felipe, additional, Gallardo, Paulo, additional, Arroyo, Maria Elisa, additional, Balinos, Marygrace, additional, Espinosa, Cayetano, additional, and Mardones, Denisse, additional

Published
2017
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135. Effect of the residual organic and mineral fertilizer on biological and agricultural yield, protein and oil content in the seeds of camelina plant (Camelina sativa)

Author

Miralles Imperial Hornedo, Rosario, Martin Sanchez, Jose Valero, M. Carmen Lobo Bedmar, Plaza Benito, Antonio, and Delgado Arroyo, Maria Del Mar

Subjects
Fertilizante mineral, Grano, Biomasa aérea, Lodo secado térmico, Biomasa radical
Abstract

Camelina (Camelina sativa (L.) Crantz) is an important crop for biofuel production and animal feed. A camelina cv. Calena culture experiment was carried out to test the effect of residual organic and mineral fertilization after a crop of winter rape oilseed (Brassica napus L.). The fertilization treatments applied to oilseed rape were two thermal dry sewage sludge (TDSS) at rates 0 (r0) without fertilization, rate 1 (r1) that covers the nitrogen needs of the plant and rate 1.5 (r1.5), and alternatively mineral fertilizer (MF) N-P-K-S formula 15-15-15-20 at rates r0, r1 and r1.5. The camelina experiment was carried out in a greenhouse on the same pots of previous winter oilseed rape crop with the same soil and TDSS or MF. The variables analyzed were the following dry weight (biological yield) of seed (SW), aerial biomass (ABW) and root biomass (RBW), percentage ([%]) of Kjeldhal Nitrogen (N) in [%] NS, [%] NAB and [%] NRB. In order to determine the seed’s quality, the variables studied were crude protein ([%] CPRS) and oil content ([%] OCS). The statistical study analyzed the variance of the chosen factors, namely treatment (TDSS and MF) and rates (0, 1 and 1.5). Treatment-rate interaction was no significant for all variables except ABW and SW (p = 0.05).Treatment type only was significant in ABW, and rates were significant in all variables except RBW. As a result, this test with camelina crop showed a good response to residual fertilizer across the variables under analysis, with r1 and r1.5 for TDSS and r1 for MF. The highest [%] OCS values were obtained with r0, without fertilizer, while the highest [%] CPRS was obtained with r1.5 in both treatments (TDSS and MF). © 2015, Centro de Ciencias de la Atmosfera, UNAM. All rights reserved.

Published
2015

137. Association of risk of febrile neutropenia (FN) with docetaxel in prostate cancer (PC) patients: A meta-analysis of published phase II-III trials

Author

Antonio Merida Garcia, Guillermo Velasco, Lorente David, Brandon Bernard, Christopher Sweeney, Juan Manuel Sepúlveda, Daniel Castellano, Blazquez Arroyo Maria, David Lora, and Ray Manneh Kopp

Subjects
Oncology, Cancer Research, medicine.medical_specialty, business.industry, medicine.disease, Prostate cancer, Docetaxel, Internal medicine, Meta-analysis, medicine, business, Febrile neutropenia, medicine.drug
Abstract

e21683 Background: Reported rates of FN with docetaxel (DTX) in PC patients are variable. This creates uncertainty regard the use of granulocyte colony-stimulating factor primary prophylaxis (G-CSF) in this setting. We conducted a meta-analysis of randomized clinical trials to determine the relative risk (RR) of FN in patients receiving DTX. Methods: To perform this analysis we systematically searched in PUBMED and MEDLINE database the following terms: “DTX”, “randomized clinical trial” and “prostate cancer” only for articles published between January 1996 and August 2016. Phase II-III clinical studies comparing DTX to non-DTX control arms (best supportive care [BSC] including non-cytotoxic therapy or mitoxantrone) for PC were included. The meta-analyses were performed by computing RRs with 95% confidence intervals (CI) using fixed-effects model with the Mantel-Haenszel method. Results: Seven studies (N = 5088 patients) were included. The global incidence of FN in patients treated with DTX was 10.7%. The RR of FN was higher in patients receiving DTX compared to patients did not receive DTX (RR 16.8 [95% CI 10.7; 26.4] p < 0.0001). 6.6% of patients with metastatic castration resistant prostate cancer (CRPC) treated with DTX developed FN, the RR of FN with DTX compared to mitoxantrone was 28.6 (95% CI 5.6; 145.1). 12.4% of patients with hormone-sensitive prostate cancer (HSPC) treated with DTX developed FN, the RR of FN was 15.3 (95% CI 9.6; 24.6) compared to BSC. There was no statistically significant differences in the rate of FN according to the hormone sensitivity (HSPC vs CRPC) (p = 0.7). In most studies the use of G-CSF was at the discretion of the investigator. Conclusions: This meta-analysis shows that DTX is associated with a significant increase in the relative risk of FN in patients with PC. The effectiveness of primary prophylactic G-CSF in this setting has not been fully established. The incidence reported here does not meet the threshold recommended by ESMO and ASCO guidelines for the use of prophylactic G-CSF. Special attention should be given to high risk groups for FN, including elderly patients and those with bone marrow involvement or previous radiotherapy/chemotherapy.

Published
2017

138. Localizando partículas en un fluido a partir de holografías y computación de altas prestaciones

Author

Ortega, Gloria, Lobera, Julia, García, Inmaculada, Arroyo, Maria del Pilar, and Garzon, Ester M.

Subjects
Computacion de altas prestaciones, Informatica, Tomografia optica difraccional
Abstract

La tomografía se ha introducido recientemente en la velocimetría de fluidos para proporcionar información en tres dimensiones de la localización de partículas en el seno de fluidos. En concreto, algunos trabajos previos han probado el potencial de la Tomografía Óptica Difraccional en este campo. En general, los métodos de reconstrucción en longitudes de ondas visibles tienen que tener en cuenta la difracción. La Primera Aproximación de Born (aproximación lineal) se ha utilizado para la reconstrucción 3D de imágenes, pero un método no lineal de reconstrucción es necesario cuando la dispersión múltiple no es despreciable. Por lo tanto, si nuestro interés se centra en el desarrollo de técnicas alta precisión de velocimetría de fluidos, una estrategia interesante consiste en incluir en los fluidos un conjunto de partículas sembradoras cuya posición se puede determinar mediante TOD pero el proceso de reconstrucción debe considerar los campos dispersados. En este trabajo se describe una optimización iterativa no lineal para localizar las partículas sembradoras y computar después el campo de velocidad del fluido y, por tanto, métodos de reconstrucción no lineales. Este método de inversión requiere la resolución de la ecuación de Helmholtz, con una alta demanda computacional relacionada con el tamaño del problema. Por lo tanto, la computación de altas prestaciones se hace imprescindible para la solución de este tipo de problemas. Este trabajo muestra los resultados de acelerar esta técnica de reconstrucción utilizando la computación con GPUs y un formato adaptado a las características de la matriz involucrada en la ecuación de Helmholtz. Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech. Universidad de Valladolid. SARTECO(Sociedad de Arquitectura y Tecnología de Computadores)

Published
2014

139. THE IMPORTANCE OF UNDERGRADUATE STUDENTS’ ORAL HEALTH KNOWLEDGE

Author

Capetillo, Guadalupe, primary, Flores, Silvia Georgina, additional, Torres, Evelyn, additional, Ochoa, Rosa Elena, additional, Leyva, Fabiola, additional, Tiburcio, Leticia, additional, Montejo, Diana, additional, Arroyo, Maria, additional, Denis, Patricia, additional, and Ortiz Betancourt, Ignacio, additional

Published
2016
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143. Mesenchymal stem cells: emphasis in adipose tissue

Author

Bertassoli,Bruno Machado, Assis Neto,Antonio Chaves de, Oliveira,Franceliusa Delys de, Arroyo,Maria Angélica Machado, Ferrão,Juliana Shimara Pires, Silva,Jodonai Barbosa da, Pignatari,Graciela Conceição, and Braga,Patrícia Beltrão

Subjects
Adipose Tissue, Stem Cells, Mesenchymal Stem Cells
Abstract

The study of stem cells has evolved rapidly in recent decades. The importance is given to the concept that these cells are potentially able to become any cell type and have the power of self-renewal throughout the life of the organism. Mesenchymal stem cells (MSCs) can be isolated from various organs of the body such as bone marrow, adipose tissue, synovium, muscle and dermis, deciduous teeth, umbilical cord, placenta, liver, spleen and thymus. After their isolation in vitro, mesenchymal stem cells have the capacity to differentiate into various mesenchymal lineages and various tissues after the use of appropriate cultures. Studies have reported that mesenchymal stem cells from adipose tissue have the potential to differentiate themselves, like the cells commonly studied bone marrow. Adipose tissue is attractive due to its easy access, rapid expansion in vitro and only one collects the large amount of tissue. This review intends to show the protocols for isolation, cell culture and means of commercial cellular differentiation most widely used with emphasis on adipose tissue.

Published
2013

144. Mesenchymal stem cells: emphasis in adipose tissue

Author

Bertassoli, Bruno Machado, Assis Neto, Antonio Chaves de, Oliveira, Franceliusa Delys de, Arroyo, Maria Angélica Machado, Ferrão, Juliana Shimara Pires, Silva, Jodonai Barbosa da, Pignatari, Graciela Conceição, and Braga, Patrícia Beltrão

Subjects
Adipose Tissue, Stem Cells, Mesenchymal Stem Cells
Abstract

The study of stem cells has evolved rapidly in recent decades. The importance is given to the concept that these cells are potentially able to become any cell type and have the power of self-renewal throughout the life of the organism. Mesenchymal stem cells (MSCs) can be isolated from various organs of the body such as bone marrow, adipose tissue, synovium, muscle and dermis, deciduous teeth, umbilical cord, placenta, liver, spleen and thymus. After their isolation in vitro, mesenchymal stem cells have the capacity to differentiate into various mesenchymal lineages and various tissues after the use of appropriate cultures. Studies have reported that mesenchymal stem cells from adipose tissue have the potential to differentiate themselves, like the cells commonly studied bone marrow. Adipose tissue is attractive due to its easy access, rapid expansion in vitro and only one collects the large amount of tissue. This review intends to show the protocols for isolation, cell culture and means of commercial cellular differentiation most widely used with emphasis on adipose tissue.

Published
2013

145. The role of mitochondrial DNA in Huntington’s disease

Author

Irwin, Carol C., Wexler, Nancy S., Young, Anne B., Ozelius, Laurie J., Penney, John B., Shoulson, Ira, Snodgrass, S. Robert, Ramos-Arroyo, Maria A., Sanchez-Ramos, Juan, Penchaszadeh, Graciela K., Bonilla, Ernesto, Conneally, P. Michael, and Gusella, James F.

Published
1989
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148. Germination of grass seeds with recycling waste water

Author

Florez Garcia, Mercedes, Carbonell Padrino, Maria Victoria, Martinez Ramirez, Elvira, Amaya Garcia de la Escosura, Jose Manuel, and Delgado Arroyo, Maria del Mar

Subjects
Biología, Agricultura, food and beverages
Abstract

This study was designed to determine the effects of residual water irrigation on the rate and percentage of germination of grass seeds. Germination tests were carried out to compare the seeds irrigated with recycling waste water with seeds irrigated with distilled water. Test with Festuca arundinacea Sch. and Agrostis tenuis L. seeds was performed under laboratory conditions. Parameters used to evaluate germination were: number of germinated seeds (Gmax), mean germination time (MGT), the time required for 1 to 75%, of the seeds to germinate (T1, T10, T25, T50 and T75). The evaluated parameters for both seeds irrigated with recycled waste water were below the control seeds parameters. These reductions involve that germination rate was increased. Recycling waste water could be used for irrigation of grass seeds because produces a beneficial effect in germination rate and percentage.

Published
2008

149. Sexo seguro, cuerpos disciplinados

Author

Quintana Arroyo, María Soledad and Quintana Arroyo, María Soledad

Subjects
Papillomaviruses, Sexually transmitted diseases, Sexual health, Reproductive health
Published
2010

150. Los registros de enfermedades en la investigación epidemiológica de las enfermedades raras en España

Author

Zurriaga Lloréns, Óscar, Martínez García, Carmen, Arizo Luque, Vanessa, Sánchez Pérez, Maria José, Ramos Aceitero, Julián Mauro, García Blasco, Maria José, Ferrari Arroyo, Maria José, Perestelo Pérez, Lilisbeth, Ramalle Gómara, Enrique, Martínez Frias, Maria Luisa, and Posada de la Paz, Manuel

Subjects
Enfermedades raras, Diseases registries, Prevalence, Sistemas de registros, Registries, Prevalencia, Sistemas de información, Rare diseases, Information Systems
Abstract

Fundamento: En el caso de las enfermedades raras existen dificultades para utilizar herramientas como los registros de enfermedades. El objetivo de este trabajo es describir la situación de los registros sobre enfermedades raras en España. Métodos: Se utiliza la información proporcionada por dos directorios de registros sanitarios españoles elaborados por la Agencia Española de Evaluación de Tecnologías Sanitarias, realizando un estudio descriptivo transversal. Los registros identificados en estos directorios se han clasificado como: 1) «Específicos de enfermedades raras», 2) «No específicos pero con información de enfermedades raras», y 3) «No informativos sobre enfermedades raras». Resultados: En el directorio del año 2000 aparecían 82 registros, de los que el 15,8% se clasificaron en el grupo 1, mientras que en la revisión de 2005 se identificaron 107 registros, 16,8% en el grupo 1. Las principales áreas temáticas de los registros sanitarios del grupo 2 fueron el cáncer, la mortalidad, la psiquiatría y la nefrología. En los directorios no se ha hallado ningún registro genérico de enfermedades raras. Conclusiones: Aunque escasos, existen registros sanitarios en España con información sobre enfermedades raras. Se han identificado áreas temáticas con carencias de registros y también registros o sistemas de información no identificados en las fuentes utilizadas. Es necesario continuar los esfuerzos por mejorar la información disponible sobre las enfermedades raras. Background: The use of tools such as disease registries poses a problem in the case of rare diseases. This study is aimed at describing the current situation concerning rare disease registries in Spain. Methods: The information provided by two Spanish health registries directories prepared by the Spanish Health Assessment Technologies Agencies are employed, a descriptive cross-sectional study being conducted. The registries identified in these directories has been classified as: 1) «Specific rare diseases» 2) «Unspecific but with information on rare disease» and 3) «Non-informative regarding rare diseases». Results: The 2000 directory listed 82 registries, 15.8% of which were classified under Group 1, whilst a total of 107 registries, 16.8% in Group 1, were identified in the 2005 review. The main health registries in Group 2, by topic, were: cancer, mortality, psychiatry and nephrology. No general rare disease registries were found in the directories. Conclusions: Although few in number, health registries do exist in Spain including information on rare diseases. Areas have been identified by topic lacking registries and also information systems or registries unidentified in the sources used. Continuing efforts must be made to improve the information available on rare diseases.

Published
2006

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