Author: "Silvia Avila" - Searchworks@Jio Institute Digital Library Search Results

34 results on '"Silvia Avila"'

1. Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics

Author: Emiy Yokoyama, Victoria Del Castillo, Silvia Sánchez, Sandra Ramos, Bertha Molina, Leda Torres, María José Navarro, Silvia Avila, José Luis Castrillo, Benilde García-De Teresa, Bárbara Asch, and Sara Frías
Subjects: Derivate chromosomes, Translocations, Intellectual disability, Congenital malformations, 5p deletion, 10p15 duplication, Genetics, QH426-470
Abstract: Abstract Background In countries where comparative genomic hybridization arrays (aCGH) and next generation sequencing are not widely available due to accessibility and economic constraints, conventional 400–500-band karyotyping is the first-line choice for the etiological diagnosis of patients with congenital malformations and intellectual disability. Conventional karyotype analysis can rule out chromosomal alterations greater than 10 Mb. However, some large structural abnormalities, such as derivative chromosomes, may go undetected when the analysis is performed at less than a 550-band resolution and the size and banding pattern of the interchanged segments are similar. Derivatives frequently originate from inter-chromosomal exchanges and sometimes are inherited from a parent who carries a reciprocal translocation. Case presentation We present two cases with derivative chromosomes involving a 9.1 Mb 5p deletion/14.8 Mb 10p duplication in the first patient and a 19.9 Mb 5p deletion/ 18.5 Mb 9p duplication in the second patient. These long chromosomal imbalances were ascertained by aCGH but not by conventional cytogenetics. Both patients presented with a deletion of the Cri du chat syndrome region and a duplication of another genomic region. Each patient had a unique clinical picture, and although they presented some features of Cri du chat syndrome, the phenotype did not conclusively point towards this diagnosis, although a chromosomopathy was suspected. Conclusions These cases highlight the fundamental role of the clinical suspicion in guiding the approach for the etiological diagnosis of patients. Molecular cytogenetics techniques, such as aCGH, should be considered when the clinician suspects the presence of a chromosomal imbalance in spite of a normal karyotype.
Published: 2018
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2. 7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype

Author: Emiy Yokoyama, Dennise Lesley Smith-Pellegrin, Silvia Sánchez, Bertha Molina, Alfredo Rodríguez, Rocío Juárez, Esther Lieberman, Silvia Avila, José Luis Castrillo, Victoria del Castillo, and Sara Frías
Subjects: Hand-foot-genital syndrome, HOXA13, 7p15 deletion, Genetics, QH426-470
Abstract: Abstract Background Hand-foot-genital syndrome (HFGS) is a rare condition characterized by congenital malformations in the limbs and genitourinary tract. Generally, this syndrome occurs due to point mutations that cause loss of function of the HOXA13 gene, which is located on 7p15; however, there are some patients with HFGS caused by interstitial deletions in this region. Case presentation We describe a pediatric Mexican patient who came to the Medical Genetics Department at the National Institute of Pediatrics because he presented with genital, hand and feet anomalies, facial dysmorphisms, and learning difficulties. Array CGH reported a 12.7 Mb deletion that includes HOXA13. Conclusions We compared our patient with cases of HFGS reported in the literature caused by a microdeletion; we found a minimum shared region in 7p15.2. By analyzing the phenotype in these patients, we suggest that microdeletions in this region should be investigated in all patients with clinical characteristics of HFGS who also present with dysplastic ears, mainly low-set implantation with a prominent antihelix, as well as a low nasal bridge and long philtrum.
Published: 2017
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3. PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina

Author: Ariana Gonzalez, Franco Del Greco, Laura Vargas-Roig, Bianca Brun, Gonzalo Tabares, Alejandra Mampel, Cecilia Montes, Claudia Martin, Marcela Lopez, Norma Rossi, Luisina Bruno, Carolina Ponce, Patricia Quaglio, Alvaro Yanzi, Santiago Acevedo, Lilia Lugo, Paula Lopez Breccia, Silvia Avila, Silvina Sisterna, María Soledad Del Castillo, Martín Vazquez, and Lina M. Nuñez
Subjects: Ovarian Neoplasms, Cancer Research, Oncology, Argentina, Humans, Breast Neoplasms, Female, Genetic Predisposition to Disease, Fanconi Anemia Complementation Group N Protein, Germ-Line Mutation, Retrospective Studies
Abstract: PALB2 variants have been scarcely described in Argentinian and Latin-American reports. In this study, we describe molecular and clinical characteristics of PALB2 mutations found in multi-gene panels (MP) from breast-ovarian cancer (BOC) families in different institutions from Argentina.We retrospectively identified PALB2 pathogenic (PV) and likely pathogenic (LPV) variants from a cohort of 1905 MP results, provided by one local lab (Heritas) and SITHER (Hereditary Tumor Information System) public database. All patients met hereditary BOC clinical criteria for testing, according to current guidelines.The frequency of PALB2 mutations is 2.78% (53/1905). Forty-eight (90.5%) are PV and five (9.5%) are LPV. Most of the 18 different mutations (89%) are nonsense and frameshift types and 2 variants are novel. One high-rate recurrent PV (Y551*) is present in 43% (23/53) of the unrelated index cases. From the 53 affected carriers, 94% have BC diagnosis with 14% of bilateral cases. BC phenotype is mainly invasive ductal (78%) with 62% of hormone-receptor positive and 22% of triple negative tumors. Self-reported ethnic background of the cohort is West European (66%) and native Latin-American (20%) which is representative of Buenos Aires and other big urban areas of the country.This is the first report describing molecular and clinical characteristics of PALB2 carriers in Argentina. Frequency of PALB2 PV in Argentinian HBOC families is higher than in other reported populations. Y551* is a recurrent mutation that seems to be responsible for almost 50% of PALB2 cases.
Published: 2022

4. Weaning from mechanical ventilation in intensive care units across 50 countries (WEAN SAFE): a multicentre, prospective, observational cohort study

Author: Tài, Pham, Leo, Heunk, Giacomo, Bellani, Fabiana, Madotto, Irene, Aragao, Gaëtan, Beduneau, Ewan C, Goligher, Giacomo, Grasselli, Jon Henrik, Laake, Jordi, Mancebo, Oscar, Peñuela, Lise, Piquilloud, Antonio, Pesenti, Hannah, Wunsch, Frank, van Haren, Laurent, Brochard, John G, Laffey, Abrough, Fekri, P Acharya, Subhash, Amin, Pravin, Arabi, Yaseen, Aragao, Irene, Bauer, Philippe, Beduneau, Gaëtan, Beitler, Jeremy, Berkius, Johan, Bugedo, Guillermo, Camporota, Luigi, Cerny, Vladimir, Cho, Young-Jae, Clarkson, Kevin, Estenssoro, Elisa, Goligher, Ewan, Grasselli, Giacomo, Gritsan, Alexey, Mohammadreza Hashemian, Seyed, Hermans, Greet, M Heunks, Leo, Jovanovic, Bojan, Kurahashi, Kiyoyasu, Henrik Laake, Jon, Matamis, Dimitrio, Moerer, Onnen, Molnar, Zsolt, Ozyilmaz, Ezgi, Panka, Bernardo, Papali, Alfred, Peñuelas, Óscar, Perbet, Sébastien, Piquilloud, Lise, Qiu, Haibo, Abdel Razek, Assem, Rittayamai, Nuttapol, Roldan, Rollin, Serpa Neto, Ary, Szuldrzynski, Konstanty, Talmor, Daniel, Tomescu, Dana, Van Haren, Frank, Villagomez, Asisclo, Ali Zeggwagh, Amine, Abe, Toshikazu, Aboshady, Abdelrhman, Acampo-de Jong, Melanie, Acharya, Subhash, Adderley, Jane, Adiguzel, Nalan, Kumar Agrawal, Vijay, Aguilar, Gerardo, Aguirre, Gaston, Aguirre-Bermeo, Hernan, Ahlström, Björn, Akbas, Türkay, Akker, Mustafa, Al Sadeh, Ghamdan, Alamri, Sultan, Algaba, Angela, Ali, Muneeb, Aliberti, Anna, Manuel Allegue, Jose, Alvarez, Diana, Amador, Joaquin, H Andersen, Finn, Ansari, Sharique, Apichatbutr, Yutthana, Apostolopoulou, Olympia, Arellano, Daniel, Arica, Mestanza, Arikan, Huseyin, Arinaga, Koichi, Arnal, Jean-Michel, Asano, Kengo, Asín-Corrochano, Marta, Milagrito Avalos Cabrera, Jesu, Avila Fuentes, Silvia, Aydemir, Semih, Aygencel, Gulbin, Azevedo, Luciano, Bacakoglu, Feza, Badie, Julio, Baedorf Kassis, Elia, Bai, Gabriela, Balaraj, Govindan, Ballico, Bruno, Banner-Goodspeed, Valerie, Banwarie, Preveen, Barbieri, Rosella, Baronia, Arvind, Barrett, Jonathan, Barrot, Loïc, Emilio Barrueco-Francioni, Jesu, Barry, Jeffrey, Bawangade, Harshal, Beavis, Sarah, Beck, Eduardo, Beehre, Nina, Belenguer Muncharaz, Alberto, Bellani, Giacomo, Belliato, Mirko, Bellissima, Agrippino, Beltramelli, Rodrigo, Ben Souissi, Asma, Benitez-Cano, Adela, Benlamin, Mohamed, Benslama, Abdellatif, Bento, Lui, Benvenuti, Daniela, Bernabe, Laura, Bersten, Andrew, Berta, Giacomo, Bertini, Pietro, Bertram-Ralph, Elliot, Besbes, Mohamed, Roberto Bettini, Lisandro, Beuret, Pascal, Bewley, Jeremy, Bezzi, Marco, Bhakhtiani, Lakshay, Bhandary, Rakesh, Bhowmick, Kaushik, Bihari, Shailesh, Bissett, Bernie, Blythe, David, Bocher, Simon, Boedjawan, Narain, M Bojanowski, Christine, Boni, Elisa, Boraso, Sabrina, Borelli, Massimo, Borello, Silvina, Borislavova, Margarita, J Bosma, Karen, Bottiroli, Maurizio, Boyd, Owen, Bozbay, Suha, Briva, Arturo, Brochard, Laurent, Bruel, Cédric, Bruni, Andrea, Buehner, Ulrike, Bulpa, Pierre, Burt, Karen, Buscot, Mathieu, Buttera, Stefania, Cabrera, Jorge, Caccese, Roberta, Caironi, Pietro, Canchos Gutierrez, Ivan, Canedo, Nancy, Cani, Alma, Cappellini, Iacopo, Carazo, Jesu, Pablo Cardonnet, Lui, Carpio, David, Carriedo, Demetrio, Carrillo, Ramón, Carvalho, João, Caser, Eliana, Castelli, Antonio, Castillo Quintero, Manuel, Castro, Heloisa, Catorze, Nuno, Cengiz, Melike, Cereijo, Enrique, Ceunen, Helga, Chaintoutis, Christo, Chang, Youjin, Chaparro, Gustavogcha, Chapman, Carmel, Chau, Simon, Eugenia Chavez, Cecilia, Chelazzi, Cosimo, Chelly, Jonathan, Chemouni, Frank, Chen, Kai, Chena, Ariel, Chiarandini, Paolo, Chilton, Phil, Chiumello, Davide, Chou-Lie, Yvette, Chudeau, Nicola, Cinel, Ismail, Cinnella, Gilda, Clark, Michele, Clark, Thoma, Clementi, Stefano, Coaguila, Lui, Jaspe Codecido, Alexi, Collins, Amy, Colombo, Riccardo, Conde, Juan, Consales, Guglielmo, Cook, Tim, Coppadoro, Andrea, Cornejo, Rodrigo, Cortegiani, Andrea, Coxo, Cristina, Neville Cracchiolo, Andrea, Crespo Ramirez, Mónica, Crova, Philippe, Cruz, José, Cubattoli, Lucia, Çukurova, Zafer, Curto, Francesco, Czempik, Piotr, D'Andrea, Rocco, da Silva Ramos, Fernando, Dangers, Laurence, Danguy des Déserts, Marc, Danin, Pierre-Eric, Dantas, Fabianne, Daubin, Cédric, Dawei, Wu, de Haro, Candelaria, de Jesus Montelongo, Felipe, De Mendoza, Diego, de Pablo, Raúl, De Pascale, Gennaro, De Rosa, Silvia, Decavèle, Maxen, Declercq, Pierre-Loui, Deicas, Alberto, Del Carmen Campos Moreno, María, Dellamonica, Jean, Delmas, Benjamin, Demirkiran, Oktay, Demirkiran, Hilmi, Dendane, Tarek, di Mussi, Rossella, Diakaki, Chrysi, Diaz, Anatilde, Diaz, Willy, Dikmen, Yalim, Dimoula, Aikaterini, Doble, Patricia, Doha, Nagwa, Domingos, Guilherme, Dres, Martin, Dries, David, Duggal, Abhijit, Duke, Graeme, Dunts, Pavel, Dybwik, Knut, Dykyy, Maksym, Eckert, Philippe, Efe, Serdar, Elatrous, Souheil, Elay, Gülseren, S Elmaryul, Abubaker, Elsaadany, Mohamed, Elsayed, Hany, Elsayed, Samar, Emery, Malo, Ena, Sébastien, Eng, Kevin, A Englert, Joshua, Erdogan, Elif, Ergin Ozcan, Perihan, Eroglu, Ege, Escobar, Miguel, Esen, Figen, Esen Tekeli, Arzu, Esquivel, Alejandro, Esquivel Gallegos, Helbert, Ezzouine, Hanane, Facchini, Alberto, Faheem, Mohammad, Fanelli, Vito, Fernanda Farina, Maria, Fartoukh, Muriel, Fehrle, Lutz, Feng, Feng, Feng, Yufeng, Fernandez, Irene, Fernandez, Borja, Lorena Fernandez-Rodriguez, Maria, Ferrando, Carlo, João Ferreira da Silva, Maria, Ferreruela, Mireia, Ferrier, Janet, Jesús Flamm Zamorano, Matia, Flood, Laura, Floris, Leda, Fluckiger, Martin, Forteza, Catalina, Fortunato, Antonella, Frans, Eric, Frattari, Antonella, Fredes, Sebastian, Frenzel, Tim, Fumagalli, Roberto, Andres Furche, Mariano, Fusari, Maurizio, Fysh, Edward, Luis Galeas-Lopez, Juan, Galerneau, Louis-Marie, Garcia, Analía, Fernanda Garcia, María, Garcia, Elisabet, Garcia Olivares, Pablo, Garlicki, Jaroslaw, Garnero, Aude, Garofalo, Eugenio, Gautam, Prabha, Gazenkampf, Andrey, Gelinotte, Stéphanie, Gelormini, Domenico, Ghrenassia, Etienne, Giacomucci, Angelo, Giannoni, Robert, Gigante, Andrea, Glober, Nancy, Gnesin, Paolo, Gollo, Yari, Gomaa, Dina, Gomero Paredes, Rosita, Gomes, Rui, Alejandro Gomez, Raúl, Gomez, Oscar, Gomez, Aroa, Gondim, Louise, Gonzalez, Manuel, Gonzalez, Isabel, Gonzalez-Castro, Alejandro, Gordillo Romero, Orlando, Gordo, Federico, Gouin, Philippe, Graf Santos, Jerónimo, Grainne, Rooney, Grando, Matilde, Granov Grabovica, Sanja, Grasso, Salvatore, Grasso, Rinaldo, Grimmer, Lisa, Grissom, Colin, Gu, Qing, Guan, Xiang-Dong, Guarracino, Fabio, Guasch, Neu, Guatteri, Luca, Gueret, Renaud, Guérin, Claude, Guerot, Emmanuel, Guitard, Pierre-Gilda, Gül, Fethi, Gumus, Ayca, Gurjar, Mohan, Gutierrez, Patricia, Hachimi, Abdelhamid, Hadzibegovic, Adi, Hagan, Samantha, Hammel, Clare, Han Song, Joo, Hanlon, Gabrielle, Heines, Serge, Henriksson, Johanna, Herbrecht, Jean-Etienne, Omar Heredia Orbegoso, Gabriel, Hermon, Andrew, Hernandez, Rosana, Hernandez, Carmen, Herrera, Lui, Herrera-Gutierrez, Manuel, Heunks, Leo, Hidalgo, Juan, Hill, Dianne, Holmquist, Dagmar, Homez, Marcela, Hongtao, Xia, Hormis, Anil, Horner, Daniel, Carmen Hornos, M, Hou, Meihong, House, Stacy, Housni, Brahim, Hugill, Keith, Humphreys, Sally, Humbert, Loui, Hunter, Stephanie, Hwa Young, Lee, Iezzi, Nicola, Ilutovich, Santiago, Inal, Volkan, Innes, Richard, Ioannides, Panagioti, Antonio Iotti, Giorgio, Ippolito, Mariachiara, Irie, Hiromasa, Iriyama, Hiroki, Itagaki, Taiga, Izura, Javier, Izza, Santiago, Jabeen, Rakhshanda, Jamaati, Hamidreza, Jamadarkhana, Sunil, Jamoussi, Amira, Jankowski, Milosz, Alberto Jaramillo, Lui, Jeon, Kyeongman, Jeong Lee, Seok, Jeswani, Deepak, Jha, Simant, Jiang, Liangyan, Jing, Chen, Jochmans, Sébastien, Anders Johnstad, Bror, Jongmin, Lee, Joret, Aurélie, Junhasavasdikul, Detajin, Teresa Jurado, Maria, Kam, Elisa, Kamohara, Hidenobu, Kane, Caroline, Kara, Iskender, Karakurt, Sait, Karnjanarachata, Cherdkiat, Kataoka, Jun, Katayama, Shinshu, Kaushik, Shuchi, Kelebek Girgin, Nermin, Kerr, Kathryn, Kerslake, Ian, Khairnar, Prakash, Khalid, Abidi, Khan, Akram, K Khanna, Ashish, Khorasanee, Reza, Kienhorst, Dieneke, Kirakli, Cenk, Knafelj, Rihard, Kol Kol, Mark, Kongpolprom, Napplika, Kopitko, Csaba, Korkmaz Ekren, Pervin, Kubisz-Pudelko, Agnieszka, Kulcsar, Zoltan, Kumasawa, Junji, Kuriyama, Akira, Kutchak, Fernanda, Labarca, Eduardo, Labat, Françoise, Laborda, César, Alberto Laca Barrera, Manuel, Lagache, Laurie, Landaverde Lopez, Antonio, Lanspa, Michael, Lascari, Valeria, Le Meur, Matthieu, Hwan Lee, Su, Ju Lee, Young, Lee, Jinwoo, Lee, Won-Yeon, Lee, Jarone, Legernaes, Terje, Leiner, Tamaa, Lemiale, Virginie, Leonor, Tiago, M Lepper, Philipp, Li, Dahuan, Li, Hongbin, Li, Oleg, Raquel Lima, Ana, Lind, Dan, Litton, Edward, Liu, Ning, Liu, Ling, Liu, Jialin, Llitjos, Jean-Françoi, Llorente, Beatriz, Lopez, Rodolfo, Elizabeth Lopez, Claudia, Lopez Nava, Claudia, Lovazzano, Pablo, Lu, Min, Lucchese, Francesca, Lugano, Manuela, Lugo Goytia, Gustavo, Luo, Hua, Lynch, Ceri, Macheda, Sebastiano, Hugo Madrigal Robles, Victor, Maurizio Maggiore, Salvatore, Magret Iglesias, Mònica, Malaga, Peter, Mallapura Maheswarappa, Harish, Malpartida, Guillermo, Malyarchikov, Andrey, Mansson, Helena, Manzano, Anaid, Marey, Ismael, Marin, Nathalie, Del Carmen Marin, Maria, Markman, Eliana, Martin, Felix, Martin, Alex, Martin Dal Gesso, Cristina, Martinez, Felipe, Martínez-Fidalgo, Conchita, Martin-Loeches, Ignacio, Mas, Arantxa, Masaaki, Sakuraya, Maseda, Emilio, Massa, Eleni, Mattsson, Anna, Maugeri, Jessica, Mccredie, Victoria, Mccullough, Jame, Mcguinness, Shay, Mckown, Andrew, Medve, László, Mei, Chengqing, Mellado Artigas, Ricard, Mendes, Vitor, Khalaf Ebraheim Mervat, Mohamed, Michaux, Isabelle, Mikhaeil, Michael, Milagros, Olga, Milet, Igor, Teresa Millan, Maria, Minwei, Zhang, Mirabella, Lucia, Mishra, Sanghamitra, Mistraletti, Giovanni, Mochizuki, Katsunori, Moghal, Arif, Mojoli, Francesco, Molin, Alexandre, Montiel, Raquel, Montini, Luca, Monza, Gianmario, Mora Aznar, Maria, Morakul, Sunthiti, Morales, Maria, Moreno Torres, Daniel, Rolando Morocho Tutillo, Diego, Motherway, Catherine, Mouhssine, Doumiri, Mouloudi, Eleni, Muñoz, Tapia, Munoz de Cabo, Carlo, Mustafa, Mohamed, Muthuchellappan, Radhakrishnan, Muthukrishnan, Muraleekrishnan, Muttini, Stefano, Nagata, Isao, Nahar, Dick, Nakanishi, Misuzu, Nakayama, Izumi, Antonio Namendys-Silva, Silvio, Nanchal, Rahul, Nandakumar, Sivakumar, Nasi, Alessandra, Nasir, Kamal, Navalesi, Paolo, Naz Aslam, Tayyba, Nga Phan, Thuy, Nichol, Alistair, Niiyama, Shuhei, Nikolakopoulou, Sofia, Nikolic, Elena, Nitta, Kenichi, Noc, Marko, Nonas, Stephanie, Nseir, Saad, Nur Soyturk, Ayse, Obata, Yukako, Oeckler, Richard, Oguchi, Moe, Ohshimo, Shinichiro, Oikonomou, Marina, Ojados, Agueda, Teresa Oliveira, Maria, Oliveira Filho, Wilson, Oliveri, Carlo, Olmos, Aitor, Omura, Kazuya, Cristina Orlandi, Maria, Orsenigo, Francesca, Ortiz-Ruiz De Gordoa, Laura, Ota, Kei, Ovalle Olmos, Rainier, Öveges, Nándo, Oziemski, Peter, Ozkan Kuscu, Ozlem, Özyilmaz, Ezgi, Pachas Alvarado, Fernando, Pagella, Gonzalo, Palaniswamy, Vijayanand, Luis Palazon Sanchez, Eugenio, Palmese, Salvatore, Pan, Guojun, Pan, Wensen, Papanikolaou, Metaxia, Papavasilopoulou, Theonymfi, Parekh, Ameet, Parke, Rachael, J Parrilla, Francisco, Parrilla, Dácil, Pasha, Taha, Pasin, Laura, Patão, Lui, Patel, Mayur, Patel, Grisma, Kumar Pati, Basanta, Patil, Jayaprakash, Pattnaik, Saroj, Paul, Daniel, Pavesi, Maurizio, Alejandra Pavlotsky, Vanesa, Paz, Graciela, Paz, Enrique, Pecci, Elisabetta, Pellegrini, Carlo, Gabriela Peña Padilla, Andrea, Perchiazzi, Gaetano, Pereira, Tiago, Pereira, Vera, Perez, Manuel, Perez Calvo, Cesar, Perez Cheng, Meisy, Perez Maita, Ronald, Pérez-Araos, Rodrigo, Perez-Teran, Purificación, Perez-Torres, David, Perkins, Gavin, Persona, Paolo, Petnak, Tananchai, Petrova, Marina, Pham, Tai, Philippart, Françoi, Picetti, Edoardo, Pierucci, Elisabetta, Piervincenzi, Edoardo, Pinciroli, Riccardo, Pintado, Maria-Consuelo, Piraino, Thoma, Piras, Stephanie, Piras, Claudio, Pirompanich, Pattarin, Pisani, Luigi, Platas, Enrique, Plotnikow, Gustavo, Porras, Willy, Porta, Virginia, Portilla, Mariana, Portugal, José, Povoa, Pedro, Prat, Gwenael, Pratto, Romina, Preda, Gabriel, Prieto, Isidro, Prol-Silva, Estefania, Pugh, Richard, Qi, Yupeng, Qian, Chuanyun, Qin, Tiehe, Qu, Hongping, Quintana, Teobaldo, Quispe Sierra, Rosari, Quispe Soto, Rocio, Rabbani, Raihan, Rabee, Mohamed, Rabie, Ahmed, Augusta Rahe Pereira, Maria, Rai, Ashish, Raj Ashok, Sundar, Rajab, Mostafa, Ramdhani, Navin, Ramey, Elizabeth, Ranieri, Marco, Rathod, Darshana, Ray, Banambar, Mahmud Redwanul Huq, Shihan, Regli, Adrian, Reina, Rosa, Resano Sarmiento, Natalia, Reynaud, Faustine, Rialp, Gemma, Ricart, Pilar, Rice, Todd, Richardson, Angu, Rieder, Marcelo, Rinket, Martin, Rios, Fernando, Risso Vazquez, Alejandro, Riva, Ivano, Rivette, Monaly, Roca, Oriol, Roche-Campo, Ferran, Rodriguez, Covadonga, Rodriguez, Gabriel, Rodriguez Gonzalez, Daniel, Yanina Rodriguez Tucto, Xandra, Rogers, Angela, Elena Romano, María, Rørtveit, Linda, Rose, Alastair, Roux, Damien, Rouze, Anahita, Nahuel Rubatto Birri, Paolo, Ruilan, Wang, Ruiz Robledo, Aldana, Luis Ruiz-Aguilar, Antonio, Sadahiro, Tomohito, Saez, Ignacio, Sagardia, Judith, Saha, Rajnish, Saha, Rohit, Saiphoklang, Narongkorn, Saito, Shigeki, Salem, Maie, Sales, Gabriele, Salgado, Patricia, Samavedam, Sriniva, Sami Mebazaa, Mhamed, Samuelsson, Line, San Juan Roman, Nandyelly, Sanchez, Patricia, Sanchez-Ballesteros, Jesu, Sandoval, Yazcitk, Sani, Emanuele, Santos, Martin, Santos, Carla, Sanui, Masamitsu, Saravanabavan, Lakshmikanthcharan, Sari, Sema, Sarkany, Agne, Sauneuf, Bertrand, Savioli, Monica, Sazak, Hilal, Scano, Riccardo, Schneider, Franci, Schortgen, Frédérique, J Schultz, Marcu, Leonie Schwarz, Gabriele, Seçkin Yücesoy, Faruk, Seely, Andrew, Seiler, Frederik, Seker Tekdos, Yasemin, Seok Chan, Kim, Serano, Luca, Serednicki, Wojciech, Setten, Mariano, Shah, Asim, Shah, Bhagyesh, Shang, You, Shanmugasundaram, Pradeep, Shapovalov, Konstantin, Shebl, Eman, Shiga, Takuya, Shime, Nobuaki, Shin, Phil, Short, Jack, Shuhua, Chen, Siddiqui, Sughrat, Ignacio Silesky Jimenez, Juan, Silva, Daniel, Silva Sales, Betania, Simons, Koen, Ågot Sjøbø, Brit, Slessor, David, Smiechowicz, Jakub, Smischney, Nathan, Smith, Paul, Smith, Tim, Smith, Mark, Snape, Sarah, Snyman, Lindi, Soetens, Filiep, Sook Hong, Kyung, Ángel Sosa Medellin, Miguel, Soto, Giovanna, Souloy, Xavier, Sousa, Elsa, Sovatzis, Stefania, Sozutek, Didem, Spadaro, Savino, Spagnoli, Marco, Spångfors, Martin, Spittle, Nick, Spivey, Mike, Stapleton, Andrew, Stefanovic, Branislava, Stephenson, Lorraine, Stevenson, Elizabeth, Strand, Kristian, Teresa Strano, Maria, Straus, Slavenka, Sun, Chenliang, Sun, Rongqing, Sundaram, Venkat, Sunpark, Tai, Surlemont, Elisabeth, Sutherasan, Yuda, Szabo, Zsuzsanna, Tainter, Christopher, Takaba, Akihiro, Tallott, Mandy, Tamasato, Tamasato, Tang, Zhanhong, Tangsujaritvijit, Viratch, Taniguchi, Leandro, Taniguchi, Daisuke, Tarantino, Fabio, Teerapuncharoen, Krittika, Temprano, Susana, Terragni, Pierpaolo, Terzi, Nicola, Thakur, Anand, Theerawit, Pongdhep, W Thille, Arnaud, Thomas, Matt, Thungtitigul, Poungrat, Thyrault, Martial, Tilouch, Nejla, Timenetsky, Karina, Tirapu, Juna, Todeschini, Manuel, Tomas, Roser, Tomaszewski, Christian, Tonetti, Tommaso, Tonnelier, Alexandre, Trinder, John, Trongtrakul, Konlawij, Truwit, Jonathon, Tsuei, Betty, Tulaimat, Aiman, Turan, Sema, Turkoglu, Melda, Tyagi, Sanjeev, Ubeda, Alejandro, Vagginelli, Federica, Florencia Valenti, María, Vallverdu, Imma, Van Axel, Alisha, van den Hul, Ingrid, van der Hoeven, Han, Van Der Meer, Nardo, Vanhoof, Marc, Vargas-Ordoñez, Mónica, Vaschetto, Rosanna, Vascotto, Ettore, Vatsik, Maria, Vaz, Ana, Vazquez-Sanchez, Antonia, Ventura, Sara, Wytze Vermeijden, Jan, Vidal, Anxela, Vieira, Jocyelle, Vilela Costa Pinto, Bruno, Villagra, Ana, Villegas Succar, Cristina, Georg Vinorum, Ole, Vitale, Giovanni, Vj, Ramesh, Vochin, Ana, Voiriot, Guillaume, Alberto Volta, Carlo, von Seth, Magnu, Wajdi, Maazouzi, Walsh, Don, Wang, Shouhong, Wardi, Gabriel, Christian Ween-Velken, Nil, Wei, Bi-Lin, Weller, Dolf, Welsh, Deborah, Welters, Ingeborg, Wert, Michael, Whiteley, Simon, Wilby, Elizabeth, Williams, Erin, Williams, Karen, Wilson, Antoinette, Wojtas, Jadwiga, Won Huh, Jin, Wrathall, David, Wright, Christopher, Wu, Jian-Feng, Xi, Guo, Xing, Zheng-Jiang, Xu, Hongyang, Yamamoto, Kotaro, Yan, Jie, Yáñez, Julio, Yang, Xiaobo, Yates, Elliot, Yazicioglu Mocin, Ozlem, Ye, Zhenglong, Yildirim, Fatma, Yoshida, Norifumi, Higo Leon Yoshido, Hector, Young Lee, Bo, Yu, Rongguo, Yu, Gong, Yu, Tao, Yuan, Boyun, Yuangtrakul, Nadwipa, Yumoto, Tetsuya, Yun, Xie, Zakalik, Graciela, Zaki, Ahmad, Zalba-Etayo, Begoña, Zambon, Massimo, Zang, Bin, Zani, Gianluca, Zarka, Jonathan, Maria Zerbi, Simone, Zerman, Avsar, Zetterquist, Harald, Zhang, Jiuzhi, Zhang, Hongwen, Zhang, Wei, Zhang, Guoxiu, Zhang, Weixin, Zhao, Hongsheng, Zheng, Jia, Zhu, Bin, Zumaran, Ronald, Pham, Tài, Madotto, Fabiana, Goligher, Ewan C, Laake, Jon Henrik, Mancebo, Jordi, Peñuelas, Oscar, Pesenti, Antonio, Wunsch, Hannah, van Haren, Frank, Laffey, John G, Fekri Abrough, Subhash P Acharya, Pravin Amin, Yaseen Arabi, Irene Aragao, Philippe Bauer, Gaëtan Beduneau, Jeremy Beitler, Johan Berkius, Guillermo Bugedo, Luigi Camporota, Vladimir Cerny, Young-Jae Cho, Kevin Clarkson, Elisa Estenssoro, Ewan Goligher, Giacomo Grasselli, Alexey Gritsan, Seyed Mohammadreza Hashemian, Greet Hermans, Leo M Heunks, Bojan Jovanovic, Kiyoyasu Kurahashi, Jon Henrik Laake, Dimitrios Matamis, Onnen Moerer, Zsolt Molnar, Ezgi Ozyilmaz, Bernardo Panka, Alfred Papali, Óscar Peñuelas, Sébastien Perbet, Lise Piquilloud, Haibo Qiu, Assem Abdel Razek, Nuttapol Rittayamai, Rollin Roldan, Ary Serpa Neto, Konstanty Szuldrzynski, Daniel Talmor, Dana Tomescu, Frank Van Haren, Asisclo Villagomez, Amine Ali Zeggwagh, Toshikazu Abe, Abdelrhman Aboshady, Melanie Acampo-de Jong, Subhash Acharya, Jane Adderley, Nalan Adiguzel, Vijay Kumar Agrawal, Gerardo Aguilar, Gaston Aguirre, Hernan Aguirre-Bermeo, Björn Ahlström, Türkay Akbas, Mustafa Akker, Ghamdan Al Sadeh, Sultan Alamri, Angela Algaba, Muneeb Ali, Anna Aliberti, Jose Manuel Allegue, Diana Alvarez, Joaquin Amador, Finn H Andersen, Sharique Ansari, Yutthana Apichatbutr, Olympia Apostolopoulou, Daniel Arellano, Mestanza Arica, Huseyin Arikan, Koichi Arinaga, Jean-Michel Arnal, Kengo Asano, Marta Asín-Corrochano, Jesus Milagrito Avalos Cabrera, Silvia Avila Fuentes, Semih Aydemir, Gulbin Aygencel, Luciano Azevedo, Feza Bacakoglu, Julio Badie, Elias Baedorf Kassis, Gabriela Bai, Govindan Balaraj, Bruno Ballico, Valerie Banner-Goodspeed, Preveen Banwarie, Rosella Barbieri, Arvind Baronia, Jonathan Barrett, Loïc Barrot, Jesus Emilio Barrueco-Francioni, Jeffrey Barry, Harshal Bawangade, Sarah Beavis, Eduardo 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Dunts, Pavel, Dybwik, Knut, Dykyy, Maksym, Eckert, Philippe, Efe, Serdar, Elatrous, Souheil, Elay, Gülseren, S Elmaryul, Abubaker, Elsaadany, Mohamed, Elsayed, Hany, Elsayed, Samar, Emery, Malo, Ena, Sébastien, Eng, Kevin, A Englert, Joshua, Erdogan, Elif, Ergin Ozcan, Perihan, Eroglu, Ege, Escobar, Miguel, Esen, Figen, Esen Tekeli, Arzu, Esquivel, Alejandro, Esquivel Gallegos, Helbert, Ezzouine, Hanane, Facchini, Alberto, Faheem, Mohammad, Fanelli, Vito, Fernanda Farina, Maria, Fartoukh, Muriel, Fehrle, Lutz, Feng, Feng, Feng, Yufeng, Fernandez, Irene, Fernandez, Borja, Lorena Fernandez-Rodriguez, Maria, Ferrando, Carlo, João Ferreira da Silva, Maria, Ferreruela, Mireia, Ferrier, Janet, Jesús Flamm Zamorano, Matia, Flood, Laura, Floris, Leda, Fluckiger, Martin, Forteza, Catalina, Fortunato, Antonella, Frans, Eric, Frattari, Antonella, Fredes, Sebastian, Frenzel, Tim, Fumagalli, Roberto, Andres Furche, Mariano, Fusari, Maurizio, Fysh, Edward, Luis Galeas-Lopez, Juan, Galerneau, Louis-Marie, Garcia, Analía, Fernanda Garcia, María, Garcia, Elisabet, Garcia Olivares, Pablo, Garlicki, Jaroslaw, Garnero, Aude, Garofalo, Eugenio, Gautam, Prabha, Gazenkampf, Andrey, Gelinotte, Stéphanie, Gelormini, Domenico, Ghrenassia, Etienne, Giacomucci, Angelo, Giannoni, Robert, Gigante, Andrea, Glober, Nancy, Gnesin, Paolo, Gollo, Yari, Gomaa, Dina, Gomero Paredes, Rosita, Gomes, Rui, Alejandro Gomez, Raúl, Gomez, Oscar, Gomez, Aroa, Gondim, Louise, Gonzalez, Manuel, Gonzalez, Isabel, Gonzalez-Castro, Alejandro, Gordillo Romero, Orlando, Gordo, Federico, Gouin, Philippe, Graf Santos, Jerónimo, Grainne, Rooney, Grando, Matilde, Granov Grabovica, Sanja, Grasso, Salvatore, Grasso, Rinaldo, Grimmer, Lisa, Grissom, Colin, Gu, Qing, Guan, Xiang-Dong, Guarracino, Fabio, Guasch, Neu, Guatteri, Luca, Gueret, Renaud, Guérin, Claude, Guerot, Emmanuel, Guitard, Pierre-Gilda, Gül, Fethi, Gumus, Ayca, Gurjar, Mohan, Gutierrez, Patricia, Hachimi, Abdelhamid, Hadzibegovic, Adi, Hagan, 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Shinichiro, Oikonomou, Marina, Ojados, Agueda, Teresa Oliveira, Maria, Oliveira Filho, Wilson, Oliveri, Carlo, Olmos, Aitor, Omura, Kazuya, Cristina Orlandi, Maria, Orsenigo, Francesca, Ortiz-Ruiz De Gordoa, Laura, Ota, Kei, Ovalle Olmos, Rainier, Öveges, Nándo, Oziemski, Peter, Ozkan Kuscu, Ozlem, Özyilmaz, Ezgi, Pachas Alvarado, Fernando, Pagella, Gonzalo, Palaniswamy, Vijayanand, Luis Palazon Sanchez, Eugenio, Palmese, Salvatore, Pan, Guojun, Pan, Wensen, Papanikolaou, Metaxia, Papavasilopoulou, Theonymfi, Parekh, Ameet, Parke, Rachael, J Parrilla, Francisco, Parrilla, Dácil, Pasha, Taha, Pasin, Laura, Patão, Lui, Patel, Mayur, Patel, Grisma, Kumar Pati, Basanta, Patil, Jayaprakash, Pattnaik, Saroj, Paul, Daniel, Pavesi, Maurizio, Alejandra Pavlotsky, Vanesa, Paz, Graciela, Paz, Enrique, Pecci, Elisabetta, Pellegrini, Carlo, Gabriela Peña Padilla, Andrea, Perchiazzi, Gaetano, Pereira, Tiago, Pereira, Vera, Perez, Manuel, Perez Calvo, Cesar, Perez Cheng, Meisy, Perez Maita, 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Mónica Crespo Ramirez, Philippe Crova, José Cruz, Lucia Cubattoli, Zafer Çukurova, Francesco Curto, Piotr Czempik, Rocco D'Andrea, Fernando da Silva Ramos, Laurence Dangers, Marc Danguy des Déserts, Pierre-Eric Danin, Fabianne Dantas, Cédric Daubin, Wu Dawei, Candelaria de Haro, Felipe de Jesus Montelongo, Diego De Mendoza, Raúl de Pablo, Gennaro De Pascale, Silvia De Rosa, Maxens Decavèle, Pierre-Louis Declercq, Alberto Deicas, María Del Carmen Campos Moreno, Jean Dellamonica, Benjamin Delmas, Oktay Demirkiran, Hilmi Demirkiran, Tarek Dendane, Rossella di Mussi, Chrysi Diakaki, Anatilde Diaz, Willy Diaz, Yalim Dikmen, Aikaterini Dimoula, Patricia Doble, Nagwa Doha, Guilherme Domingos, Martin Dres, David Dries, Abhijit Duggal, Graeme Duke, Pavel Dunts, Knut Dybwik, Maksym Dykyy, Philippe Eckert, Serdar Efe, Souheil Elatrous, Gülseren Elay, Abubaker S Elmaryul, Mohamed Elsaadany, Hany Elsayed, Samar Elsayed, Malo Emery, Sébastien Ena, Kevin Eng, Joshua A Englert, Elif Erdogan, Perihan Ergin Ozcan, Ege Eroglu, Miguel Escobar, Figen Esen, Arzu Esen Tekeli, Alejandro Esquivel, Helbert Esquivel Gallegos, Hanane Ezzouine, Alberto Facchini, Mohammad Faheem, Vito Fanelli, Maria Fernanda Farina, Muriel Fartoukh, Lutz Fehrle, Feng Feng, Yufeng Feng, Irene Fernandez, Borja Fernandez, Maria Lorena Fernandez-Rodriguez, Carlos Ferrando, Maria João Ferreira da Silva, Mireia Ferreruela, Janet Ferrier, Matias Jesús Flamm Zamorano, Laura Flood, Leda Floris, Martin Fluckiger, Catalina Forteza, Antonella Fortunato, Eric Frans, Antonella Frattari, Sebastian Fredes, Tim Frenzel, Roberto Fumagalli, Mariano Andres Furche, Maurizio Fusari, Edward Fysh, Juan Luis Galeas-Lopez, Louis-Marie Galerneau, Analía Garcia, María Fernanda Garcia, Elisabet Garcia, Pablo Garcia Olivares, Jaroslaw Garlicki, Aude Garnero, Eugenio Garofalo, Prabha Gautam, Andrey Gazenkampf, Stéphanie Gelinotte, Domenico Gelormini, Etienne Ghrenassia, Angelo Giacomucci, Robert Giannoni, Andrea Gigante, Nancy Glober, Paolo Gnesin, Yari Gollo, Dina Gomaa, Rosita Gomero Paredes, Rui Gomes, Raúl Alejandro Gomez, Oscar Gomez, Aroa Gomez, Louise Gondim, Manuel Gonzalez, Isabel Gonzalez, Alejandro Gonzalez-Castro, Orlando Gordillo Romero, Federico Gordo, Philippe Gouin, Jerónimo Graf Santos, Rooney Grainne, Matilde Grando, Sanja Granov Grabovica, Salvatore Grasso, Rinaldo Grasso, Lisa Grimmer, Colin Grissom, Qing Gu, Xiang-Dong Guan, Fabio Guarracino, Neus Guasch, Luca Guatteri, Renaud Gueret, Claude Guérin, Emmanuel Guerot, Pierre-Gildas Guitard, Fethi Gül, Ayca Gumus, Mohan Gurjar, Patricia Gutierrez, Abdelhamid Hachimi, Adi Hadzibegovic, Samantha Hagan, Clare Hammel, Joo Han Song, Gabrielle Hanlon, Serge Heines, Johanna Henriksson, Jean-Etienne Herbrecht, Gabriel Omar Heredia Orbegoso, Andrew Hermon, Rosana Hernandez, Carmen Hernandez, Luis Herrera, Manuel Herrera-Gutierrez, Leo Heunks, Juan Hidalgo, Dianne Hill, Dagmar Holmquist, Marcela Homez, Xia Hongtao, Anil Hormis, Daniel Horner, M Carmen Hornos, Meihong Hou, Stacy House, Brahim Housni, Keith Hugill, Sally Humphreys, Louis Humbert, Stephanie Hunter, Lee Hwa Young, Nicolas Iezzi, Santiago Ilutovich, Volkan Inal, Richard Innes, Panagiotis Ioannides, Giorgio Antonio Iotti, Mariachiara Ippolito, Hiromasa Irie, Hiroki Iriyama, Taiga Itagaki, Javier Izura, Santiago Izza, Rakhshanda Jabeen, Hamidreza Jamaati, Sunil Jamadarkhana, Amira Jamoussi, Milosz Jankowski, Luis Alberto Jaramillo, Kyeongman Jeon, Seok Jeong Lee, Deepak Jeswani, Simant Jha, Liangyan Jiang, Chen Jing, Sébastien Jochmans, Bror Anders Johnstad, Lee Jongmin, Aurélie Joret, Detajin Junhasavasdikul, Maria Teresa Jurado, Elisa Kam, Hidenobu Kamohara, Caroline Kane, Iskender Kara, Sait Karakurt, Cherdkiat Karnjanarachata, Jun Kataoka, Shinshu Katayama, Shuchi Kaushik, Nermin Kelebek Girgin, Kathryn Kerr, Ian Kerslake, Prakash Khairnar, Abidi Khalid, Akram Khan, Ashish K Khanna, Reza Khorasanee, Dieneke Kienhorst, Cenk Kirakli, Rihard Knafelj, Mark Kol Kol, Napplika Kongpolprom, Csaba Kopitko, Pervin Korkmaz Ekren, Agnieszka Kubisz-Pudelko, Zoltan Kulcsar, Junji Kumasawa, Akira Kuriyama, Fernanda Kutchak, Eduardo Labarca, Françoise Labat, César Laborda, Manuel Alberto Laca Barrera, Laurie Lagache, Antonio Landaverde Lopez, Michael Lanspa, Valeria Lascari, Matthieu Le Meur, Su Hwan Lee, Young Ju Lee, Jinwoo Lee, Won-Yeon Lee, Jarone Lee, Terje Legernaes, Tamaas Leiner, Virginie Lemiale, Tiago Leonor, Philipp M Lepper, Dahuan Li, Hongbin Li, Oleg Li, Ana Raquel Lima, Dan Lind, Edward Litton, Ning Liu, Ling Liu, Jialin Liu, Jean-François Llitjos, Beatriz Llorente, Rodolfo Lopez, Claudia Elizabeth Lopez, Claudia Lopez Nava, Pablo Lovazzano, Min Lu, Francesca Lucchese, Manuela Lugano, Gustavo Lugo Goytia, Hua Luo, Ceri Lynch, Sebastiano Macheda, Victor Hugo Madrigal Robles, Salvatore Maurizio Maggiore, Mònica Magret Iglesias, Peter Malaga, Harish Mallapura Maheswarappa, Guillermo Malpartida, Andrey Malyarchikov, Helena Mansson, Anaid Manzano, Ismael Marey, Nathalie Marin, Maria Del Carmen Marin, Eliana Markman, Felix Martin, Alex Martin, Cristina Martin Dal Gesso, Felipe Martinez, Conchita Martínez-Fidalgo, Ignacio Martin-Loeches, Arantxa Mas, Sakuraya Masaaki, Emilio Maseda, Eleni Massa, Anna Mattsson, Jessica Maugeri, Victoria McCredie, James McCullough, Shay McGuinness, Andrew McKown, László Medve, Chengqing Mei, Ricard Mellado Artigas, Vitor Mendes, Mohamed Khalaf Ebraheim Mervat, Isabelle Michaux, Michael Mikhaeil, Olga Milagros, Igor Milet, Maria Teresa Millan, Zhang Minwei, Lucia Mirabella, Sanghamitra Mishra, Giovanni Mistraletti, Katsunori Mochizuki, Arif Moghal, Francesco Mojoli, Alexandre Molin, Raquel Montiel, Luca Montini (ORCID:0000-0003-4602-5134), Gianmario Monza, Maria Mora Aznar, Sunthiti Morakul, Maria Morales, Daniel Moreno Torres, Diego Rolando Morocho Tutillo, Catherine Motherway, Doumiri Mouhssine, Eleni Mouloudi, Tapia Muñoz, Carlos Munoz de Cabo, Mohamed Mustafa, Radhakrishnan Muthuchellappan, Muraleekrishnan Muthukrishnan, Stefano Muttini, Isao Nagata, Dick Nahar, Misuzu Nakanishi, Izumi Nakayama, Silvio Antonio Namendys-Silva, Rahul Nanchal, Sivakumar Nandakumar, Alessandra Nasi, Kamal Nasir, Paolo Navalesi, Tayyba Naz Aslam, Thuy Nga Phan, Alistair Nichol, Shuhei Niiyama, Sofia Nikolakopoulou, Elena Nikolic, Kenichi Nitta, Marko Noc, Stephanie Nonas, Saad Nseir, Ayse Nur Soyturk, Yukako Obata, Richard Oeckler, Moe Oguchi, Shinichiro Ohshimo, Marina Oikonomou, Agueda Ojados, Maria Teresa Oliveira, Wilson Oliveira Filho, Carlo Oliveri, Aitor Olmos, Kazuya Omura, Maria Cristina Orlandi, Francesca Orsenigo, Laura Ortiz-Ruiz De Gordoa, Kei Ota, Rainier Ovalle Olmos, Nándo Öveges, Peter Oziemski, Ozlem Ozkan Kuscu, Ezgi Özyilmaz, Fernando Pachas Alvarado, Gonzalo Pagella, Vijayanand Palaniswamy, Eugenio Luis Palazon Sanchez, Salvatore Palmese, Guojun Pan, Wensen Pan, Metaxia Papanikolaou, Theonymfi Papavasilopoulou, Ameet Parekh, Rachael Parke, Francisco J Parrilla, Dácil Parrilla, Taha Pasha, Laura Pasin, Luis Patão, Mayur Patel, Grisma Patel, Basanta Kumar Pati, Jayaprakash Patil, Saroj Pattnaik, Daniel Paul, Maurizio Pavesi, Vanesa Alejandra Pavlotsky, Graciela Paz, Enrique Paz, Elisabetta Pecci, Carlos Pellegrini, Andrea Gabriela Peña Padilla, Gaetano Perchiazzi, Tiago Pereira, Vera Pereira, Manuel Perez, Cesar Perez Calvo, Meisy Perez Cheng, Ronald Perez Maita, Rodrigo Pérez-Araos, Purificación Perez-Teran, David Perez-Torres, Gavin Perkins, Paolo Persona, Tananchai Petnak, Marina Petrova, Tai Pham, François Philippart, Edoardo Picetti, Elisabetta Pierucci, Edoardo Piervincenzi, Riccardo Pinciroli, Maria-Consuelo Pintado, Thomas Piraino, Stephanie Piras, Claudio Piras, Pattarin Pirompanich, Luigi Pisani, Enrique Platas, Gustavo Plotnikow, Willy Porras, Virginia Porta, Mariana Portilla, José Portugal, Pedro Povoa, Gwenael Prat, Romina Pratto, Gabriel Preda, Isidro Prieto, Estefania Prol-Silva, Richard Pugh, Yupeng Qi, Chuanyun Qian, Tiehe Qin, Hongping Qu, Teobaldo Quintana, Rosari Quispe Sierra, Rocio Quispe Soto, Raihan Rabbani, Mohamed Rabee, Ahmed Rabie, Maria Augusta Rahe Pereira, Ashish Rai, Sundar Raj Ashok, Mostafa Rajab, Navin Ramdhani, Elizabeth Ramey, Marco Ranieri, Darshana Rathod, Banambar Ray, Shihan Mahmud Redwanul Huq, Adrian Regli, Rosa Reina, Natalia Resano Sarmiento, Faustine Reynaud, Gemma Rialp, Pilar Ricart, Todd Rice, Angus Richardson, Marcelo Rieder, Martin Rinket, Fernando Rios, Alejandro Risso Vazquez, Ivano Riva, Monaly Rivette, Oriol Roca, Ferran Roche-Campo, Covadonga Rodriguez, Gabriel Rodriguez, Daniel Rodriguez Gonzalez, Xandra Yanina Rodriguez Tucto, Angela Rogers, María Elena Romano, Linda Rørtveit, Alastair Rose, Damien Roux, Anahita Rouze, Paolo Nahuel Rubatto Birri, Wang Ruilan, Aldana Ruiz Robledo, Antonio Luis Ruiz-Aguilar, Tomohito Sadahiro, Ignacio Saez, Judith Sagardia, Rajnish Saha, Rohit Saha, Narongkorn Saiphoklang, Shigeki Saito, Maie Salem, Gabriele Sales, Patricia Salgado, Srinivas Samavedam, Mhamed Sami Mebazaa, Line Samuelsson, Nandyelly San Juan Roman, Patricia Sanchez, Jesus Sanchez-Ballesteros, Yazcitk Sandoval, Emanuele Sani, Martin Santos, Carla Santos, Masamitsu Sanui, Lakshmikanthcharan Saravanabavan, Sema Sari, Agnes Sarkany, Bertrand Sauneuf, Monica Savioli, Hilal Sazak, Riccardo Scano, Francis Schneider, Frédérique Schortgen, Marcus J Schultz, Gabriele Leonie Schwarz, Faruk Seçkin Yücesoy, Andrew Seely, Frederik Seiler, Yasemin Seker Tekdos, Kim Seok Chan, Luca Serano, Wojciech Serednicki, Mariano Setten, Asim Shah, Bhagyesh Shah, You Shang, Pradeep Shanmugasundaram, Konstantin Shapovalov, Eman Shebl, Takuya Shiga, Nobuaki Shime, Phil Shin, Jack Short, Chen Shuhua, Sughrat Siddiqui, Juan Ignacio Silesky Jimenez, Daniel Silva, Betania Silva Sales, Koen Simons, Brit Ågot Sjøbø, David Slessor, Jakub Smiechowicz, Nathan Smischney, Paul Smith, Tim Smith, Mark Smith, Sarah Snape, Lindi Snyman, Filiep Soetens, Kyung Sook Hong, Miguel Ángel Sosa Medellin, Giovanna Soto, Xavier Souloy, Elsa Sousa, Stefania Sovatzis, Didem Sozutek, Savino Spadaro, Marco Spagnoli, Martin Spångfors, Nick Spittle, Mike Spivey, Andrew Stapleton, Branislava Stefanovic, Lorraine Stephenson, Elizabeth Stevenson, Kristian Strand, Maria Teresa Strano, Slavenka Straus, Chenliang Sun, Rongqing Sun, Venkat Sundaram, Tai SunPark, Elisabeth Surlemont, Yuda Sutherasan, Zsuzsanna Szabo, Christopher Tainter, Akihiro Takaba, Mandy Tallott, Tamasato Tamasato, Zhanhong Tang, Viratch Tangsujaritvijit, Leandro Taniguchi, Daisuke Taniguchi, Fabio Tarantino, Krittika Teerapuncharoen, Susana Temprano, Pierpaolo Terragni, Nicolas Terzi, Anand Thakur, Pongdhep Theerawit, Arnaud W Thille, Matt Thomas, Poungrat Thungtitigul, Martial Thyrault, Nejla Tilouch, Karina Timenetsky, Juna Tirapu, Manuel Todeschini, Roser Tomas, Christian Tomaszewski, Tommaso Tonetti, Alexandre Tonnelier, John Trinder, Konlawij Trongtrakul, Jonathon Truwit, Betty Tsuei, Aiman Tulaimat, Sema Turan, Melda Turkoglu, Sanjeev Tyagi, Alejandro Ubeda, Federica Vagginelli, María Florencia Valenti, Imma Vallverdu, Alisha Van Axel, Ingrid van den Hul, Hans van der Hoeven, Nardo Van Der Meer, Marc Vanhoof, Mónica Vargas-Ordoñez, Rosanna Vaschetto, Ettore Vascotto, Maria Vatsik, Ana Vaz, Antonia Vazquez-Sanchez, Sara Ventura, Jan Wytze Vermeijden, Anxela Vidal, Jocyelle Vieira, Bruno Vilela Costa Pinto, Ana Villagra, Cristina Villegas Succar, Ole Georg Vinorum, Giovanni Vitale, Ramesh Vj, Ana Vochin, Guillaume Voiriot, Carlo Alberto Volta, Magnus von Seth, Maazouzi Wajdi, Don Walsh, Shouhong Wang, Gabriel Wardi, Nils Christian Ween-Velken, Bi-Lin Wei, Dolf Weller, Deborah Welsh, Ingeborg Welters, Michael Wert, Simon Whiteley, Elizabeth Wilby, Erin Williams, Karen Williams, Antoinette Wilson, Jadwiga Wojtas, Jin Won Huh, David Wrathall, Christopher Wright, Jian-Feng Wu, Guo Xi, Zheng-Jiang Xing, Hongyang Xu, Kotaro Yamamoto, Jie Yan, Julio Yáñez, Xiaobo Yang, Elliot Yates, Ozlem Yazicioglu Mocin, Zhenglong Ye, Fatma Yildirim, Norifumi Yoshida, Hector Higo Leon Yoshido, Bo Young Lee, Rongguo Yu, Gong Yu, Tao Yu, Boyun Yuan, Nadwipa Yuangtrakul, Tetsuya Yumoto, Xie Yun, Graciela Zakalik, Ahmad Zaki, Begoña Zalba-Etayo, Massimo Zambon, Bin Zang, Gianluca Zani, Jonathan Zarka, Simone Maria Zerbi, Avsar Zerman, Harald Zetterquist, Jiuzhi Zhang, Hongwen Zhang, Wei Zhang, Guoxiu Zhang, Weixin Zhang, Hongsheng Zhao, Jia Zheng, Bin Zhu, and Ronald Zumaran
Abstract: Background: Current management practices and outcomes in weaning from invasive mechanical ventilation are poorly understood. We aimed to describe the epidemiology, management, timings, risk for failure, and outcomes of weaning in patients requiring at least 2 days of invasive mechanical ventilation. Methods: WEAN SAFE was an international, multicentre, prospective, observational cohort study done in 481 intensive care units in 50 countries. Eligible participants were older than 16 years, admitted to a participating intensive care unit, and receiving mechanical ventilation for 2 calendar days or longer. We defined weaning initiation as the first attempt to separate a patient from the ventilator, successful weaning as no reintubation or death within 7 days of extubation, and weaning eligibility criteria based on positive end-expiratory pressure, fractional concentration of oxygen in inspired air, and vasopressors. The primary outcome was the proportion of patients successfully weaned at 90 days. Key secondary outcomes included weaning duration, timing of weaning events, factors associated with weaning delay and weaning failure, and hospital outcomes. This study is registered with ClinicalTrials.gov, NCT03255109. Findings: Between Oct 4, 2017, and June 25, 2018, 10 232 patients were screened for eligibility, of whom 5869 were enrolled. 4523 (77·1%) patients underwent at least one separation attempt and 3817 (65·0%) patients were successfully weaned from ventilation at day 90. 237 (4·0%) patients were transferred before any separation attempt, 153 (2·6%) were transferred after at least one separation attempt and not successfully weaned, and 1662 (28·3%) died while invasively ventilated. The median time from fulfilling weaning eligibility criteria to first separation attempt was 1 day (IQR 0-4), and 1013 (22·4%) patients had a delay in initiating first separation of 5 or more days. Of the 4523 (77·1%) patients with separation attempts, 2927 (64·7%) had a short wean (≤1 d
Published: 2023

5. Urban Resilience and Spatial Dynamics

Author: Cruz, Sara Santos, Costa, João Pedro T. A., de Sousa, Silvia Ávila, Pinho, Paulo, Eraydin, Ayda, editor, and Taşan-Kok, Tuna, editor
Published: 2013
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6. Correction to: Engineering the synthetic β-alanine pathway in Komagataella phaffii for conversion of methanol into 3-hydroxypropionic acid

Author: Sílvia Àvila-Cabré, Míriam Pérez-Trujillo, Joan Albiol, and Pau Ferrer
Subjects: Microbiology, QR1-502
Published: 2024
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7. Engineering the synthetic β-alanine pathway in Komagataella phaffii for conversion of methanol into 3-hydroxypropionic acid

Author: Sílvia Àvila-Cabré, Míriam Pérez-Trujillo, Joan Albiol, and Pau Ferrer
Subjects: 3-Hydroxypropionic acid, Pichia pastoris, Komagataella phaffii, Methanol, β-Alanine pathway, Metabolic engineering, Microbiology, QR1-502
Abstract: Abstract Background Methanol is increasingly gaining attraction as renewable carbon source to produce specialty and commodity chemicals, as it can be generated from renewable sources such as carbon dioxide (CO2). In this context, native methylotrophs such as the yeast Komagataella phaffii (syn Pichia pastoris) are potentially attractive cell factories to produce a wide range of products from this highly reduced substrate. However, studies addressing the potential of this yeast to produce bulk chemicals from methanol are still scarce. 3-Hydroxypropionic acid (3-HP) is a platform chemical which can be converted into acrylic acid and other commodity chemicals and biopolymers. 3-HP can be naturally produced by several bacteria through different metabolic pathways. Results In this study, production of 3-HP via the synthetic β-alanine pathway has been established in K. phaffii for the first time by expressing three heterologous genes, namely panD from Tribolium castaneum, yhxA from Bacillus cereus, and ydfG from Escherichia coli K-12. The expression of these key enzymes allowed a production of 1.0 g l−1 of 3-HP in small-scale cultivations using methanol as substrate. The addition of a second copy of the panD gene and selection of a weak promoter to drive expression of the ydfG gene in the PpCβ21 strain resulted in an additional increase in the final 3-HP titer (1.2 g l−1). The 3-HP-producing strains were further tested in fed-batch cultures. The best strain (PpCβ21) achieved a final 3-HP concentration of 21.4 g l−1 after 39 h of methanol feeding, a product yield of 0.15 g g−1, and a volumetric productivity of 0.48 g l−1 h−1. Further engineering of this strain aiming at increasing NADPH availability led to a 16% increase in the methanol consumption rate and 10% higher specific productivity compared to the reference strain PpCβ21. Conclusions Our results show the potential of K. phaffii as platform cell factory to produce organic acids such as 3-HP from renewable one-carbon feedstocks, achieving the highest volumetric productivities reported so far for a 3-HP production process through the β-alanine pathway.
Published: 2023
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8. iPSC-Derived Intestinal Organoids from Cystic Fibrosis Patients Acquire CFTR Activity upon TALEN-Mediated Repair of the p.F508del Mutation

Author: Daniel Bachiller, José Luis Pedraz, Mónica Castresana, A. Esquisabel, Aarne Fleischer, Ángel Del Pozo, Eusebio Gainza, José María Martín-Fernández, Silvia Avila, José Luis Castrillo, Sara Vallejo-Diez, Miguel Viñas, Almudena Sánchez-Gilabert, European Commission, Ministerio de Ciencia e Innovación (España), Instituto de Salud Carlos III, Govern de les Illes Balears, Federación Española de Fibrosis Quística, Federación Española de Enfermedades Neuromusculares, Fundación Salud 2000, Metrovacesa, and Eusko Jaurlaritza
Subjects: 0301 basic medicine, lcsh:QH426-470, Biology, medicine.disease_cause, FIS assay, Cystic fibrosis, Article, gene targeting, cystic fibrosis, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, TALEN, Genetics, Organoid, medicine, Cyclic adenosine monophosphate, lcsh:QH573-671, Induced pluripotent stem cell, Molecular Biology, Mutation, iPSC, lcsh:Cytology, Gene targeting, medicine.disease, Molecular biology, Cystic fibrosis transmembrane conductance regulator, 3. Good health, lcsh:Genetics, 030104 developmental biology, chemistry, intestinal organoids, 030220 oncology & carcinogenesis, Chloride channel, biology.protein, Molecular Medicine
Abstract: Cystic fibrosis (CF) is the main genetic cause of death among the Caucasian population. The disease is characterized by abnormal fluid and electrolyte mobility across secretory epithelia. The first manifestations occur within hours of birth (meconium ileus), later extending to other organs, generally affecting the respiratory tract. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CFTR encodes a cyclic adenosine monophosphate (cAMP)-dependent, phosphorylation-regulated chloride channel required for transport of chloride and other ions through cell membranes. There are more than 2,000 mutations described in the CFTR gene, but one of them, phenylalanine residue at amino acid position 508 (p.F508del), a recessive allele, is responsible for the vast majority of CF cases worldwide. Here, we present the results of the application of genome-editing techniques to the restoration of CFTR activity in p.F508del patient-derived induced pluripotent stem cells (iPSCs). Gene-edited iPSCs were subsequently used to produce intestinal organoids on which the physiological activity of the restored gene was tested in forskolin-induced swelling tests. The seamless restoration of the p.F508del mutation resulted in normal expression of the mature CFTR glycoprotein, full recovery of CFTR activity, and a normal response of the repaired organoids to treatment with two approved CF therapies: VX-770 and VX-809., Graphical Abstract, Cystic Fibrosis (CF) is the main genetic cause of death among the Caucasian population. Here, we present the results of the application of genome-editing techniques to repair the CF defect in patient-derived cells and organoids. This protocol could be the foundation for future treatments based on cell repair and transplantation.
Published: 2020

9. Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics

Author: Bárbara Asch, Benilde García-de Teresa, Leda Torres, Silvia Avila, María José Navarro, Emiy Yokoyama, José Luis Castrillo, Sandra Ramos, Bertha Molina, Victoria del Castillo, Sara Frías, and Silvia Sánchez
Subjects: 0301 basic medicine, medicine.medical_specialty, 9p22 duplication, lcsh:QH426-470, Cri du Chat Syndrome, Intellectual disability, Case Report, Chromosomal translocation, 030105 genetics & heredity, Biology, Biochemistry, Derivate chromosomes, Molecular cytogenetics, 5p deletion, 03 medical and health sciences, Gene duplication, Genetics, medicine, Molecular Biology, Genetics (clinical), Congenital malformations, Biochemistry (medical), Cytogenetics, Karyotype, Human genetics, 10p15 duplication, lcsh:Genetics, 030104 developmental biology, Molecular Medicine, Translocations, Comparative genomic hybridization
Abstract: Background In countries where comparative genomic hybridization arrays (aCGH) and next generation sequencing are not widely available due to accessibility and economic constraints, conventional 400–500-band karyotyping is the first-line choice for the etiological diagnosis of patients with congenital malformations and intellectual disability. Conventional karyotype analysis can rule out chromosomal alterations greater than 10 Mb. However, some large structural abnormalities, such as derivative chromosomes, may go undetected when the analysis is performed at less than a 550-band resolution and the size and banding pattern of the interchanged segments are similar. Derivatives frequently originate from inter-chromosomal exchanges and sometimes are inherited from a parent who carries a reciprocal translocation. Case presentation We present two cases with derivative chromosomes involving a 9.1 Mb 5p deletion/14.8 Mb 10p duplication in the first patient and a 19.9 Mb 5p deletion/ 18.5 Mb 9p duplication in the second patient. These long chromosomal imbalances were ascertained by aCGH but not by conventional cytogenetics. Both patients presented with a deletion of the Cri du chat syndrome region and a duplication of another genomic region. Each patient had a unique clinical picture, and although they presented some features of Cri du chat syndrome, the phenotype did not conclusively point towards this diagnosis, although a chromosomopathy was suspected. Conclusions These cases highlight the fundamental role of the clinical suspicion in guiding the approach for the etiological diagnosis of patients. Molecular cytogenetics techniques, such as aCGH, should be considered when the clinician suspects the presence of a chromosomal imbalance in spite of a normal karyotype.
Published: 2018

10. Sujetos, derechos y transformaciones

Author: Olga Silvia Avila Cuello
Subjects: General Medicine
Abstract: El artículo se inscribe en el Proyecto “Institucionalidades en construcción, sujetos y experiencias en contexto. Tensiones y aperturas en tiempos de demandas de igualdad” (Facultad de Filosofía y Humanidades, Secretaría de Ciencia y Técnica, Universidad Nacional de Córdoba, 2016-2017), y avanza en lecturas de material de campo desde una perspectiva de derechos. Con base en recorridos investigativos anteriores, el proyecto mencionado se propone como una etapa centrada en el estudio de las instituciones educativas, sus procesos y transformaciones recientes, en tiempos que hemos denominado de “demandas de igualdad”, y recupera para ello registros analizados en sus contextos locales. La metodología se encuadra en la perspectiva cualitativa, de orientación socio-antropológica; se apela al trabajo de campo para recuperar situaciones, relatos y reflexiones de los actores sociales y educativos que dan cuenta del modo en que la ampliación de derechos en diversos planos atravesó la vida institucional, generó nuevos posicionamientos y permitió el reconocimiento de niños y jóvenes como “sujetos de derechos”; estos procesos han dado lugar a tensiones que expresan la conflictividad de las transformaciones y las controversias latentes en el conjunto social. Se analizan tres registros: el primero se titula “Jóvenes y Memoria”, vinculado a las luchas por la Memoria, la Verdad y la Justicia, el segundo “Niñez y Escuela”, relativo a constitución de las niñas, niños y adolescentes como sujetos de derecho, y el tercero a “Vivencias de género” que incluye relatos de un adolescente y sus reflexiones luego de la sanción de la Ley de Matrimonio Igualitario. Nos parece oportuno, en el contexto político regresivo que Argentina afronta en la actualidad, realizar un aporte construido desde la investigación educativa en el espacio universitario.
Published: 2018

11. Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina

Author: Patricio G. Schlottmann, José D. Luna, Natalia Labat, María Belén Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Ivón Barbaro, Alejandro Álvarez Mendiara, Carolina P. Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José E. Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, María Emilia Aucar, Daniel M. Martin, Gerardo Juan Ormaechea, M. Eugenia Inga, Aníbal A. Francone, Martin Charles, Tamara Zompa, Pablo Javier Pérez, Vanesa Lotersztein, Pedro J. Nuova, Ivana B. Canonero, Omar A. Mahroo, Michel Michaelides, Gavin Arno, and Malena Daich Varela
Subjects: Medicine, Genetics, QH426-470
Abstract: Abstract This study corresponds to the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describes the comprehensive genetic profile of a large cohort of patients. Medical records of 22 ophthalmology and genetics services throughout 13 Argentinian provinces were analyzed retrospectively. Patients with a clinical diagnosis of an ophthalmic genetic disease and a history of genetic testing were included. Medical, ophthalmological and family history was collected. A total of 773 patients from 637 families were included, with 98% having inherited retinal disease. The most common phenotype was retinitis pigmentosa (RP, 62%). Causative variants were detected in 379 (59%) patients. USH2A, RPGR, and ABCA4 were the most common disease-associated genes. USH2A was the most frequent gene associated with RP, RDH12 early-onset severe retinal dystrophy, ABCA4 Stargardt disease, PROM1 cone-rod dystrophy, and BEST1 macular dystrophy. The most frequent variants were RPGR c.1345 C > T, p.(Arg449*) and USH2A c.15089 C > A, p.(Ser5030*). The study revealed 156/448 (35%) previously unreported pathogenic/likely pathogenic variants and 8 possible founder mutations. We present the genetic landscape of IED in Argentina and the largest cohort in South America. This data will serve as a reference for future genetic studies, aid diagnosis, inform counseling, and assist in addressing the largely unmet need for clinical trials to be conducted in the region.
Published: 2023
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12. ESCUELAS, FAMILIAS Y NIÑEZ. RELATOS Y REFLEXIONES EN TORNO A LA CONSTRUCCIÓN INSTITUCIONAL DE UNA RELACIÓN COMPLEJA

Author: Olga Silvia Avila
Subjects: Families, Schools, Familias, General Medicine, Escuelas, Relaciones, Childhood, Niñez
Abstract: El presente trabajo se inscribe en el proyecto “Institucionalidades en construcción, sujetos y experiencias en contexto. Tensiones y aperturas en tiempos de demandas de igualdad” (FFyH; Secyt-UNC). Con base en recorridos anteriores, dicho proyecto se centra en el estudio de “las instituciones, sus procesos y transformaciones recientes, recuperando el papel de los sujetos y las experiencias en contextos locales”. Focaliza la mirada en la producción de nuevas institucionalidades y en el lugar de los sujetos, contemplando el papel instituyente de las prácticas y de la pluralidad de experiencias y trayectorias. Más puntualmente, se ubica en una de las líneas del proyecto que apunta al estudio de la relación escuela-familia y comunidad; se recuperan registros producidos en el marco de una propuesta de formación solicitada por el sindicato, titulada “Escuelas, familias y contextos. Hacia la construcción de estrategias institucionales de trabajo en torno a una relación compleja”. A través de esas notas de campo, se recorren algunas situaciones relatadas por los docentes, para luego reflexionar en torno a diversas aristas de esta relación; planteamos algunas conceptualizaciones fértiles para ampliar el horizonte analítico y discutir estrategias institucionales de trabajo en el marco de las orientaciones previstas en la Ley Nacional de Educación. This paper is part of the project “Institutions under construction, subjects and experiences in context. Tensions and openings in times of demands of equality “ (FFyH; Secyt-UNC). Based on previous tours, this project focuses on the study of “institutions, their processes and recent transformations, recovering the role of subjects and experiences in local contexts.” It focuses on the production of new institutions and the place of the subjects, contemplating the institutional role of practices and the plurality of experiences and trajectories. More punctually, is located in one of the lines of the project that aims at the study of the relationship school-family and community; records are retrieved within the framework of a training proposal requested by the union, entitled “Schools, families and contexts. Towards the construction of institutional strategies of work around a complex relationship”. Through these field notes, we review some situations reported by teachers, and then reflect on several aspects of this relationship; we propose some fertile conceptualizations to expand the analytical horizon and discuss institutional work strategies within the framework of the guidelines provided for in the National Education Law. Fil: Avila, Olga Silvia. Universidad Nacional de Córdoba; Argentina.
Published: 2018

13. 7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype

Author: Sara Frías, Silvia Sánchez, José Luis Castrillo, Victoria del Castillo, Silvia Avila, Bertha Molina, Alfredo E. Rodriguez, Rocío Juárez, Esther Lieberman, Dennise Lesley Smith-Pellegrin, and Emiy Yokoyama
Subjects: 0301 basic medicine, medicine.medical_specialty, lcsh:QH426-470, Case Report, 030105 genetics & heredity, Biology, Biochemistry, 03 medical and health sciences, Genetics, medicine, Sex organ, Hand-Foot-Genital Syndrome, Molecular Biology, Genetics (clinical), Genitourinary system, Biochemistry (medical), Cytogenetics, Long philtrum, Hand-foot-genital syndrome, 7p15 deletion, medicine.disease, Dermatology, HOXA13, Human genetics, lcsh:Genetics, 030104 developmental biology, Molecular Medicine, Medical genetics
Abstract: Background Hand-foot-genital syndrome (HFGS) is a rare condition characterized by congenital malformations in the limbs and genitourinary tract. Generally, this syndrome occurs due to point mutations that cause loss of function of the HOXA13 gene, which is located on 7p15; however, there are some patients with HFGS caused by interstitial deletions in this region. Case presentation We describe a pediatric Mexican patient who came to the Medical Genetics Department at the National Institute of Pediatrics because he presented with genital, hand and feet anomalies, facial dysmorphisms, and learning difficulties. Array CGH reported a 12.7 Mb deletion that includes HOXA13. Conclusions We compared our patient with cases of HFGS reported in the literature caused by a microdeletion; we found a minimum shared region in 7p15.2. By analyzing the phenotype in these patients, we suggest that microdeletions in this region should be investigated in all patients with clinical characteristics of HFGS who also present with dysplastic ears, mainly low-set implantation with a prominent antihelix, as well as a low nasal bridge and long philtrum.
Published: 2017

14. Interstitial deletion of 2q24.2: Further delineation of an emerging syndrome associated with intellectual disability, severe hypotonia and moderate intrauterine growth restriction

Author: Emiy Yokoyama, Sara Frías, Silvia Sánchez, Victoria del Castillo, Pilar Navarrete-Meneses, Camilo E. Villarroel, José Luis Castrillo, Silvia Avila, Leda Torres, and Bertha Molina
Subjects: Male, Monosomy, Pediatrics, medicine.medical_specialty, Microarray, Intrauterine growth restriction, Short stature, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Deletion syndrome, Child, Genetic Association Studies, Genetics (clinical), Comparative Genomic Hybridization, Fetal Growth Retardation, business.industry, Ethics committee, Syndrome, medicine.disease, Hypotonia, Phenotype, Chromosomes, Human, Pair 2, Muscle Hypotonia, Chromosome Deletion, medicine.symptom, business
Abstract: Recently, 2q24.2 deletion syndrome has emerged as a cause ofintellectual disability. Takatsuki et al. [2010] provided the ﬁrstreportwithadeletionin2q24.2q24.3,conﬁrmedusingcomparativegenomic hybridization microarray (aCGH) analysis, who had alow-birth weight, hypotonia, myoclonic seizures, dysmorphic fea-tures, and pulmonary emphysema. Subsequently, two other caseswere reported showing severe hypotonia, joint laxity, and facialdysmorphism;oneofthemhadadenovointerstitialdeletionof5-Mb at 2q24.2q24.3 [Magri et al., 2011], and the other patient (ID4547) who was included in the European Cytogeneticists Associa-tion Register of Unbalanced Chromosome Aberrations database,carrying a deletion in 2q24.2. The emerging syndrome was ﬁrstsuggestedbyPalumboetal.[2012],whodescribedacasewitha7.5-Mb de novo deletion in 2q24.1q24.2 encompassing 59 genes, asdetectedusingSNParray.Theclinicalfeaturesincludedgeneralizedhypotonia, marked bruxism, and bilaterally hip dislocation.In addition, two patients with mosaicism have been reported;the ﬁrst (ID 1576) in Database of Chromosomal Imbalance andPhenotype in Humans using Ensembl Resources, is carrier of adouble2q24.2 deletion, one segmentof0.63-Mb (meanratio 1)and other of 0.17-Mb (mean ratio 0.41) inside the same region,this can be interpreted as a mosaic of monosomy and nullisomywhose molecular and clinical description is incomplete, thereforeit is not possible to include her in the present study. The secondmosaic,reportedbyBurrageetal.[2013]isamildlyaffectedpatientwithshortstatureandmosaicismwith61%ofcellscarryinga0.4-Mbdeletionon2q24.2,whichencompassesonlythreegenes.Theysuggested that TBR1was responsible for the intellectual disabilityobserved and that the short stature was associated with thePSMD14 gene.Wepresentapatient,whowasrecruitedinaprospectiveresearchprojecttodetectgenomicabnormalitiesthroughaCGHinpatientswithintellectualdisability;theresearchwasreviewedandapprovedby the ethics committee of the Instituto Nacional de Pediatri´a.The patient, a 7-year-old boy is the ﬁrst child of healthy andnonconsanguineous parents. He was born after an uneventful
Published: 2013

15. Depsipeptides and peptide-mimetics, cyclics and acyclics, integrin αVβ3 inhibitors

Author: José Luis Castrillo, Nerea Zabala Uncilla, Silvia Avila, Jose Ignacio Gamboa Landa, and Claudio Palomo Nicolau
Subjects: Regulation of gene expression, chemistry.chemical_classification, Depsipeptide, Stereochemistry, Chemistry, In vivo, Angiogenesis, Peptide, Ligand (biochemistry), Receptor, Cyclic peptide
Abstract: Angiogenesis, the sprouting of new blood vessels from pre-existing vessels, is a remarkable feature of tumours growth and metastasis. The in vivo inhibition of this receptor by cyclic peptides containing RGD sequence may be used to selectively suppress these disease1. Our research group has developed a new methodology2 for the evaluation of new antiangiogenic compounds, based in the genetic expression analysis using CGH array system. The RGD mimetics activity can be modified by the presence of ester-bond3, Therefore, we decided to prepare some depsipeptides analogous to the RGD-β-lactam compounds and evaluate their activity performing a genetic expression analysis. We also have evaluated the activity of open-chain compounds without RGD formal structure. The cyclic depsipeptides have demonstrated a very effective inhibitory activity. In the other hand the open-chain compounds have a surprising behavior, demonstrating a similar gene activation. This way, we call into question the essential need of RGD sequence to have an interaction between ligand and the receptor of the integrin4, 5. da Ressurreicao, A. S. M.; Vidu, A.; Civera M.; Belvisi L.; Potenza, D.; Manzoni, L.; Ongeri, S.; Gennari, C.; Piarulli, U.; Eur. 2009, 15, 12184. Aizpurua, J. M.; Ganboa, J. I.; Palomo, C.; Loinaz, I.; Oyarbide, J.; Fernandez, X.; Belentova, E.; Fratila, R. M.; Jimenez A.; Miranda, J. I.; Laso, A.; Avila, S.; Castrillo, J. L.; ChemBioChem, 2001, 11, 401. Cupido, T.; Spengler, J.; Ruiz-Rodriguez, J.; Adan, J.; Mitjans, F.; Puilats, J.; Albericio, F.; Chem. Int. Ed., 2010, 49, 2732. Xiong, J. P.; Stehle, T.; Zhang, R.; Joachimiak, A.; Frech, M.; Goodman, S. L.; Arnaout, M. A.; Science, 2002, 296, 151. Craig, D.; Gao, M.; Schulten, K.; Vogel, V.; Structure, 2004, 12, 2049.
Published: 2016

16. Sequence variation and mRNA expression of the TWIST1 gene in cats with mammary hyperplasia and neoplasia

Author: António Laso, Fátima Gärtner, Henrique Guedes-Pinto, Raquel Chaves, José Luis Castrillo, Silvia Avila, Cláudia S. Baptista, Ivo G. Gut, Estela Bastos, and Sara Santos
Subjects: Pathology, medicine.medical_specialty, animal structures, 040301 veterinary sciences, Mammary gland, Mammary Neoplasms, Animal, Biology, Cat Diseases, Germline, Metastasis, 0403 veterinary science, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, medicine, Animals, Coding region, RNA, Messenger, DNA Primers, Regulation of gene expression, General Veterinary, Oncogene, Reverse Transcriptase Polymerase Chain Reaction, Twist-Related Protein 1, 04 agricultural and veterinary sciences, Hyperplasia, medicine.disease, 3. Good health, Gene Expression Regulation, Neoplastic, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Cats, Cancer research, Female, Animal Science and Zoology
Abstract: In humans, a germline mutation (c.309C>G) in the TWIST1 oncogene may predispose to breast cancer and its expression has been associated with tumour progression and metastasis. In this study, the feline TWIST1 gene was screened for sequence variations in 37 neoplastic and eight hyperplastic mammary gland lesions from cats. In addition, mRNA levels were examined in 15 mammary tumours and three cases of mammary hyperplasia by quantitative real-time reverse-transcriptase PCR. Feline mammary carcinomas had significantly lower levels of expression of TWIST1 mRNA than benign mammary tumours. No variations were identified in the TWIST1 coding region in feline mammary tumours and the mutation described in humans was not detected. However, two germline variants in the TWIST1 gene intron were identified in four and three carcinomas, respectively: GQ167299:g.535delG and GQ167299:g.460C>T. There was no association between these sequence alterations and TWIST1 mRNA levels.
Published: 2012

17. Cyclic RGD β-Lactam Peptidomimetics Induce Differential Gene Expression in Human Endothelial Cells

Author: José Ignacio Ganboa, Silvia Avila, Jesus M. Aizpurua, Joseba Oyarbide, Xabier Fernandez, Eva Balentová, Claudio Palomo, Antonio Laso, José Luis Castrillo, Raluca M. Fratila, José I. Miranda, Azucena Jimenez, and Iraida Loinaz
Subjects: Lactams, Peptidomimetic, Integrin, Neovascularization, Physiologic, Peptides, Cyclic, Biochemistry, Focal adhesion, Humans, Cell adhesion, Molecular Biology, Cells, Cultured, Regulation of gene expression, chemistry.chemical_classification, biology, Chemistry, Organic Chemistry, Endothelial Cells, Integrin alphaVbeta3, Cyclic peptide, Cell biology, Gene Expression Regulation, biology.protein, Molecular Medicine, Peptidomimetics, Pharmacophore, Signal transduction, Signal Transduction
Abstract: Angiogenesis is a fundamental step in the transition of solid tumors from a dormant state to a malign one. Many of the low-molecular-weight anti-angiogenic drug candidates mimic the short peptide epitope Arg-Gly-Asp (RGD), disrupting the extracellular matrix/integrin adhesion and, ultimately, leading to tumor cell apoptosis. In contrast to the detailed structural information available for the extracellular adhesion inhibition of endothelial cells through the recognition of integrins (typically aVb3) by RGD peptidomimetics, [2] most aspects of possible intracellular angiogenic gene regulation caused by peptidomimetics remain unexplored. Importantly, dysfunction of this signaling system is suspected to be behind the resistance phenomena developed in anti-angiogenic therapies. Inside the endothelial cell, dozens of proteins mediate or control the signaling pathways of angiogenesis after integrin activation, but only a couple of kinases (JNK, ERK) and transcription factors (NFkB, FoxO) are able to promote gene regulation (Figure 1). In addition, large environmental ligands, such as vascular endothelial growth factors (VEGFs) or peptide hormones, are required to elicit proangiogenic gene regulation. In this context, we set out to design alternative lowmolecular-weight RGD probes for interaction with aVb3 integrin and gene regulation in HUVECs. Ideally, these peptidomimetics should: 1) contain a minimal scaffold to prevent undesired scaffold/integrin interactions, 2) have a uniform and predictable scaffold conformation, 3) bear a maximum of recognition groups, including hydrophobic or hydrophilic ones, and 4) permit the deletion of selected residues from the RGD triad without global shape change. We selected five-membered and four-membered small cyclic peptides for development. The residual flexibility of these cyclopeptides can be further constrained by incorporating lactam bridges between neighboring amino acids to stabilize protein secondary structure motifs characterized by combinations of b-turns and/or g-turns. Several lactam pseudopeptides resulting from such an extension of Freidinger’s concept (Scheme 1; 1!2) have been explored with the goals of mimicking receptor-bound conformations of bioactive peptides and of providing pharmacophore information for nonpeptide drug design. However, despite its apparent simplicity, this design is not always reliable for the precise positioning of a maximum number of recognition groups around the pseudopeptide cyclic core. Because the interresidual lactam bridge created by modification of the side chain (R) shares recognition and constraint functions, the design of mimetic libraries becomes difficult and non-general, when synthetically achievable. An alternative way to constrain cyclic peptides is based on the incorporation of a d-amino acid and an N-alkyl-amino acid into the macrocycle, as illustrated by the remarkable aVb3 antagonist cilengitide (3, cyclo-[Arg-Gly-Asp-d-Phe-N(Me)Val]) developed by Kessler et al. Here we report an alternative, more versatile solution to the above design problem, by introducing a-amino-b-lactam scaffolds originating from aCH/NH proton mimicry (Scheme 2; 1! 4). This “b-lactam scaffold-assisted design” (b-LSAD) approach is based on the separation of recognition and constraint groups, and has previously proven efficient for promotion of unusually stable type-II (II’) b-turn peptidomimetics from extended open native peptides. Accordingly, the straight application of the b-LSAD principle to RGD cyclic mimetics led us to the b-lactam pseudopeptides 4a–d, which fulfilled several structural requirements to trigger quite different signaling interactions with aVb3 integrin. The hydrophobic benzyl group in the d-Phe residue of cilengitide (3), for instance, was replaced by the strongly hydrophilic 1,2-dihydroxyethyl moiety in the mimetic 4a or by the poorly hydrophobic methyl group in compound 4b. Conversely, the hydrophobic R–R substituents Figure 1. Signaling pathways initiated by integrins affecting the gene regulation of angiogenesis. ERK=extracellular-signal-regulated kinase, FAK= focal adhesion kinase, FoxO= forkhead box O, JNK=c-Jun N-terminal kinase, NFkB=nuclear factor k of B-cells.
Published: 2011

18. Tecnología: mucho más que aparatos

Author: Diana Victória Victória Hugo, Patricia Olea, Mara Olavegogeasoechea, Farias Nanci Mariel, and Silvia Ávila
Subjects: Enseñanza CTS, Definición Tecnología, Mathematics, QA1-939, Education
Abstract: Esta ponencia muestra una unidad didáctica diseñada dentro del Proyecto Iberoamericano sobre la Naturaleza de la Ciencia y la Tecnología (EANCYT) EDU2010-16553 financiado por Plan Nacional de I+D del Ministerio de Ciencia e Innovación (España). Busca promover en estudiantes la complejización de esas creencias reduccionistas respecto a la Tecnología detectadas en el anterior Proyecto Iberoamericano de Evaluación de Actitudes Relacionadas con la Ciencia, la Tecnología y la Sociedad (PIEARCTS). Las actividades parten de una situación problemática contextuada que resuelven en grupo a través de la creación de un objeto tecnológico. La finalidad última es llevarlos a reflexionar sobre la tarea confrontando la propia definición inicial de Tecnología con tres tópicos/creencias dados del sentido común sobre la misma, a fin de rectificarla y ampliarla tomando conciencia de su visión también humanística y de esa interacción dialéctica que establece con la Ciencia. Se evaluará el impacto de tal unidad didáctica a través de la aplicación de un pre y post test a dos muestras de alumnos de 12 y 15 años de un grupo experimental y de otro control, usando como instrumento cuestiones del cuestionario estandarizado de opiniones sobre ciencia, tecnología y sociedad (COCTS).
Published: 2023
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19. Luces y sombras de la Tecnología

Author: Diana Victoria Hugo, Mara Olavegogeasoechea, Patricia Olea, Silvia Ávila, and Nanci Farias
Subjects: Enseñanza-Aprendizaje CTS, Decisiones Tecnológicas, Mathematics, QA1-939, Education
Abstract: Esta ponencia muestra una unidad didáctica diseñada dentro del Proyecto Iberoamericano sobre la Naturaleza de la Ciencia y la Tecnología (EANCYT) EDU2010-16553 financiado por Plan Nacional de I+D del Ministerio de Ciencia e Innovación (España), que busca promover en futuros profesores de ciencias y de enseñanza primaria mejor comprensión de la naturaleza de la ciencia y la tecnología. Pretende que evolucionen algunas actitudes/creencias reduccionistas detectadas en el anterior Proyecto Iberoamericano de Evaluación de Actitudes Relacionadas con la Ciencia, la Tecnología y la Sociedad (PIEARCTS) respecto a las decisiones tecnológicas de un país. Plantea inicialmente la catástrofe de Fukushima, los cuestionamientos que surgen a las políticas energéticas globales relacionados con el uso de la energía nuclear versus energías mas limpias, para focalizarse finalmente en la complejidad y diversidad de condicionantes que se ponen en juego en tales decisiones. Propone actividades que desarrollan competencias cognitivo- linguísticas, metacognitivas, procedimientos y actitudes asociados a la sustentabilidad. Se evaluará el impacto de la unidad didáctica en distintos contextos/ géneros a través de un pre y post test a aplicar a dos muestras de alumnos de 18 y 22 años divididos en grupo experimental y grupo control, usando como instrumento el cuestionario estandarizado de opiniones sobre ciencia, tecnología y sociedad (COCTS).
Published: 2023
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20. A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations

Author: Gabriela Elizondo-Cárdenas, Antonio Bravo-Oro, Cecilia Correa-González, Silvia Avila, José Luis Castrillo, Iosif W. Lurie, Abel Salazar-Martínez, Carmen Esmer, and Claudia Peña-Zepeda
Subjects: Genetics, Male, Comparative Genomic Hybridization, Epilepsy, Infant, Newborn, Pure red cell aplasia, Biology, medicine.disease, Red-Cell Aplasia, Pure, Phenotype, Bone and Bones, Regulatory sequence, Chromosomes, Human, Pair 2, Chromosomal region, medicine, Humans, Aplastic anemia, Chromosome Deletion, Haploinsufficiency, Gene, Genetics (clinical)
Abstract: Many chromosomal deletions encompassing the 2q23.1 region have been described ranging from small deletions of 38 kb up to >19 Mb. Most phenotypic features of the 2q23.1 deletion syndrome are due to a MBD5 gene loss independent of the size of the deletion. Here, we describe a male patient harboring a novel interstitial deletion encompassing the 2q22.3 q23.3 chromosomal region. Array-CGH revealed a 7.1 Mb deletion causing haploinsufficiency of several genes including MBD5, ACVR2, KIF5C, and EPC2. This patient presents with additional findings to those already described in individuals who have deletions of MBD5 including toes absence of halluces, pure red cell aplasia, and intestinal aganglionosis. Interestingly, in the deleted region there are previously identified regulatory sequences which are located upstream to ZEB2, which is associated with Hirschsprung disease (HSCR). Several genes have been associated with pure red cell aplasia, but to our knowledge, this is the first time that 2q deletion is associated with this phenotype. These additional findings should be added to the list of manifestations associated with 2q deletion, and provide support for the hypothesis that this individual has a true contiguous gene deletion syndrome. © 2015 Wiley Periodicals, Inc.
Published: 2013

21. Epidemiological and clinical profile between influenza A and B virus in Costa Rican children

Author: Silvia Ávila-Morales, Sebastián Ospina-Henao, Rolando Ulloa-Gutierrez, and María L. Ávila-Agüero
Subjects: Influenza, Children, Hospitalization, Vaccines, Epidemiology, Infectious and parasitic diseases, RC109-216
Abstract: Objective: We aimed to evaluate the clinical and epidemiological behavior of influenza type A versus type B and analyze if there was any correlation or differences between the characteristics of both groups. Methods: An observational, retrospective, descriptive, and population-based study based of children who were hospitalized at the only national pediatric hospital of Costa Rica from January 1, 2010 to December 31, 2018 and had a confirmed influenza virus infection. Results: 336 patients were analyzed. Mean age was 35,6 ± 36,7 months (3,0 ± 3,1 years). The only significant variables at 25% in relation to influenza type A or B virus were: sex, month of diagnosis, fever, vomiting, cough, use of antibiotics and admission to the PICU. The hospitalization rate at our hospital increased between the months of October to December, with a higher percentage of cases in November and December, which reveals that the ''real peak'' in our population begins between 3 to 4 months after the end of the vaccination campaign. Patients with influenza A virus had a 2.5 times greater risk of being admitted to the PICU. Mortality rate was 0.6% and 0% among influenza A and B children, respectively. Conclusions: Variables in which a causality was found with type A or B virus were: admission to the PICU, month of diagnosis, and cough. However, influenza B clinical behavior continues to be unpredictable.
Published: 2021
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22. Identification and characterization of four splicing variants of ovine POU1F1 gene

Author: Robert Renaville, José Luis Castrillo, Silvia Avila, Estela Bastos, Henrique Guedes-Pinto, and Alfredo Cravador
Subjects: Gene isoform, Transcriptional Activation, endocrine system, PIT-1, Biology, Cell Line, Exon, Anterior pituitary, Genetics, medicine, Animals, Humans, Promoter Regions, Genetic, Gene, Regulation of gene expression, Sheep, Base Sequence, Alternative splicing, Genetic Variation, Promoter, General Medicine, DNA, Molecular biology, Recombinant Proteins, Gene regulation, Prolactin, Rats, Alternative Splicing, medicine.anatomical_structure, Growth Hormone, Pituitary Gland, RNA splicing, Transcription factor, Transcription Factor Pit-1, HeLa Cells
Abstract: Expression of POU1F1 gene, a member of the POU homeodomain family of transcription factors, is necessary for normal differentiation, development and survival of three anterior pituitary cell types (thyrotrophs, somatotrophs and lactotrophs) and for the proper expression of growth hormone (GH), prolactin (PRL), thyroid-stimulating hormone (TSH) genes and POU1F1 gene itself. Alternative splicing forms of this gene have been reported in different species, with few functional studies. Apart from the POU1F1-Wild-type with the expected length, in this work we isolated three additional splicing variants: POU1F1-beta, with a 78 bp insert in the trans-activation domain; POU1F1-gamma that lacks exon 3 and POU1F1-delta that lacks exons 3, 4 and 5. Four different protein isoforms were also detected by Western blot in the sheep pituitary tissue. Functional assays were performed to study the trans-activation of GH and PRL promoters by the splicing variants. Regarding the PRL promoter, the beta variant presented only 12% of the Wild-type trans-activation capacity. Variants gamma and delta showed no capacity to trans-activate PRL promoter. Both gamma and delta variants acted as repressors of Wt, reducing significantly the trans-activation made by Wt alone (p
Published: 2006

23. ESCUELA, JÓVENES Y CONTEXTOS: TENSIONES EN LA CONSTRUCCIÓN SOCIAL DEL DERECHO A LA SECUNDARIA EN LOS BARRIOS POPULARES DE CÓRDOBA.

Author: Silvia Avila, Olga
Abstract: This inquiry is framed in the Project "Institutions, individuals and social transformations. Critical points of intersection and instituting processes in the education of children and young people". In the period 2014-201, the project included, among its objectives, the analysis of the process of institutionalizing compulsory secondary school, taking into account the particularities of the social context in Cordoba and its implications in the daily life of the youth of lower class neighborhoods. The paper seeks to make it visible the tensions and paradoxes which arise in connection with the inclusive sense that making secondary education compulsory entails and the configuration of restricted citizenship for members of the lower class of society, stemming from the deepening of practices of socio-territorial fragmentation and the enforcement of discriminatory security policies in recent years. [ABSTRACT FROM AUTHOR]
Published: 2016

24. A combined approach for gene discovery identifies insulin-like growth factor-binding protein-related protein 1 as a new gene implicated in human endometrial receptivity

Author: Carlos Simón, Ana Cervero, José Luis Castrillo, Francisco Domínguez, Julio Martín, Silvia Avila, and Antonio Pellicer
Subjects: Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Clinical Biochemistry, Biology, Endometrium, Biochemistry, Insulin-like growth factor-binding protein, Cell Line, Mice, Endocrinology, Pregnancy, Gene expression, medicine, Cell Adhesion, Animals, Humans, RNA, Messenger, Receptor, Gene, In Situ Hybridization, Menstrual Cycle, Fluorescent Dyes, Messenger RNA, Reverse Transcriptase Polymerase Chain Reaction, Biochemistry (medical), Epithelial Cells, Molecular biology, Immunohistochemistry, Insulin-Like Growth Factor Binding Proteins, Cytokine, medicine.anatomical_structure, Blastocyst, Gene Expression Regulation, Cell culture, biology.protein, Female, Stromal Cells, Carrier Proteins
Abstract: In the past, human endometrial receptivity has been investigated by chasing specific molecules throughout the menstrual cycle. Now the genomic approach allows us to investigate the hierarchical contribution of a high number of genes to a specific function. In this study, we analyzed differentially the gene expression pattern of 375 human cytokines, chemokines, and related factors, plus that of their receptors, in endometrial receptivity. To do this, we used a combined approach of human endometrium and cell lines. We have compared the gene expression pattern in receptive vs. prereceptive human endometria and contrasted the results with gene expression in the highly adhesive cell line (to JAR cells and mouse blastocysts) RL95-2 vs. HEC-1A, a cell line with markedly less adhesiveness. IGF-binding protein-related protein 1 (IGFBP-rP1), also known as IGFBP-7/mac 25, was the second most up-regulated gene in both of the investigated models. These results were corroborated by performing RT-PCR on the same RNA samples and validated by quantitative fluorescent RT-PCR and in situ hybridization in endometrium throughout the menstrual cycle. Interestingly, a 35-fold increase in expression during the receptive phase was compared with the prereceptive phase followed by a sharp increase in the late luteal. Further quantitative fluorescent RT-PCR experiments using the epithelial and stromal endometrial fraction throughout the menstrual cycle confirmed that IGFBP-rP1 expression was localized in the epithelial and stromal compartments and up-regulated mainly in the latter. In situ experiments confirmed the endometrial localization and regulation of IGFBP-rP1 mRNA. At the protein level, IGFBP-rP1 was localized by immunohistochemistry at the apical part of the luminal and glandular epithelium, stromal, and endothelial cells. In conclusion, using a genomic approach with a combined experimental design of receptivity in vivo and in vitro, we have discovered the implication of IGFBP-rP1 in endometrial physiology, which seems related to endometrial receptivity.
Published: 2003

25. Human endometrial receptivity: gene regulation

Author: Carlos Simón, Antonio Pellicer, José Remohí, Julio Martín, Francisco Domínguez, José Luis Castrillo, and Silvia Avila
Subjects: medicine.medical_specialty, medicine.drug_class, Immunology, Uterus, Biology, Endometrium, Models, Biological, Polymerase Chain Reaction, Cell Line, Pregnancy, Internal medicine, medicine, Immunology and Allergy, Humans, Blastocyst, Embryo Implantation, Oligonucleotide Array Sequence Analysis, Differential display, Gene Expression Profiling, Obstetrics and Gynecology, Gene expression profiling, medicine.anatomical_structure, Endocrinology, Reproductive Medicine, Gene Expression Regulation, In utero, Female, Gonadotropin, Luteinizing hormone
Abstract: Endometrial receptivity is a self-limited period in which the endometrial epithelium (EE) acquires a functional and transient ovarian steroid-dependent status that allows blastocyst adhesion. Termed as "the window of implantation", this specific period opens 4-5 days after progesterone production or administration and closes after 9-10 days. Scientific knowledge on the endometrial receptivity process is fundamental for the understanding of human reproduction, but so far none of the proposed biochemical markers for endometrial receptivity has been proven to be clinically useful. In this work, we present strategies of cDNA analysis technologies that aim to clarify the fragmented information in this field. Specifically, the objective is the differential identification, cloning and sequencing of genes linked to endometrial receptivity in humans, combining differential display PCR and cDNA microarray analysis of endometrial epithelial-derived cell lines and endometrial samples obtained in the same patient 2 and 7 days after the luteinizing hormone (LH) surge (day LH+2) and (day LH+7), respectively.
Published: 2002

26. iPSC-Derived Intestinal Organoids from Cystic Fibrosis Patients Acquire CFTR Activity upon TALEN-Mediated Repair of the p.F508del Mutation

Author: Aarne Fleischer, Sara Vallejo-Díez, José María Martín-Fernández, Almudena Sánchez-Gilabert, Mónica Castresana, Angel del Pozo, Amaia Esquisabel, Silvia Ávila, José Luis Castrillo, Eusebio Gaínza, José Luis Pedraz, Miguel Viñas, and Daniel Bachiller
Subjects: iPSC, Cystic Fibrosis, gene targeting, TALEN, intestinal organoids, FIS assay, Genetics, QH426-470, Cytology, QH573-671
Abstract: Cystic fibrosis (CF) is the main genetic cause of death among the Caucasian population. The disease is characterized by abnormal fluid and electrolyte mobility across secretory epithelia. The first manifestations occur within hours of birth (meconium ileus), later extending to other organs, generally affecting the respiratory tract. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CFTR encodes a cyclic adenosine monophosphate (cAMP)-dependent, phosphorylation-regulated chloride channel required for transport of chloride and other ions through cell membranes. There are more than 2,000 mutations described in the CFTR gene, but one of them, phenylalanine residue at amino acid position 508 (p.F508del), a recessive allele, is responsible for the vast majority of CF cases worldwide. Here, we present the results of the application of genome-editing techniques to the restoration of CFTR activity in p.F508del patient-derived induced pluripotent stem cells (iPSCs). Gene-edited iPSCs were subsequently used to produce intestinal organoids on which the physiological activity of the restored gene was tested in forskolin-induced swelling tests. The seamless restoration of the p.F508del mutation resulted in normal expression of the mature CFTR glycoprotein, full recovery of CFTR activity, and a normal response of the repaired organoids to treatment with two approved CF therapies: VX-770 and VX-809.
Published: 2020
Full Text: View/download PDF

27. Differential gene expression of cytokines, chemokines, growth factors and their receptors in receptive versus non-receptive human endometrium

Author: J Martin, Silvia Avila, C Simon, A Pellicer, José Luis Castrillo, and F Dominguez
Subjects: Reproductive Medicine, Gene expression, Immunology, Obstetrics and Gynecology, Biology, Cytokines chemokines, Receptor, Human endometrium, Differential (mathematics)
Published: 2001

28. Differential Gene Expression in High Versus Low Endometrial Receptivitity Status

Author: Silvia Avila, O Gimenez, J Martin, C Simon, José Luis Castrillo, and A Pellicer
Subjects: Reproductive Medicine, Gene expression, Obstetrics and Gynecology, Biology, Molecular biology, Differential (mathematics)
Published: 2000

29. Narrative around tourism gentrification and urban shrinkage: a qualitative approach to the case of Porto

Author: Sílvia Ávila de Sousa and Alberto Rodríguez-Barcón
Subjects: Geography. Anthropology. Recreation
Abstract: The focus of this research are the narratives told around tourism gentrification and urban shrinkage. In this article, we analyse the results of twenty interviews with different elite stakeholders from the political, academic, and entrepreneurial area in relation to the phenomenon of urban shrinkage in the municipality of Porto. We suggest that it is possible to identify common elements among the different approaches and thus reveal the existence of a consensual discourse around this phenomenon. We also critically analyse two fundamental aspects of this discourse. Firstly, we consider that it calls into question that the existence of a process of continuous population loss until 2017 constitutes a problem in terms of social and environmental sustainability in the city of Porto. Secondly, we suggest that this common narrative relativizes the negative effects derived from touristic pressure and the proliferation of a phenomenon of gentrification in the centre of the city.
Published: 2021
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30. Congenital hemangioma with milialike structures: a case report

Author: Claudia Carames, Alicia Rositto, Silvia Avila, and C.C.P.M. Ricardo Drut M.D.
Subjects: Male, Pathology, medicine.medical_specialty, Back, Scalp, Skin Neoplasms, integumentary system, Epidermal Cyst, business.industry, Biopsy, Infant, Newborn, Anatomy, Infant, Premature, Diseases, Dermatology, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, medicine, Humans, Congenital Hemangioma, business, Hemangioma, Infant, Premature, Skin
Abstract: A 4-month-old infant had two 3 cm × 4 cm hemangiomatous lesions on the scalp and back, present since birth, which contained peculiar white-yellowish small nodules. Histologically the lesions proved to have a hemangiomatous (capillary-type) component together with small keratin-containing epidermal cysts (milialike) which progressively extruded their contents. The lesions also contained embryonic-like hair structures. The hemangiomas resolved spontaneously. We were unable to find any reference in the literature describing this peculiar combination of features.
Published: 1998

31. Cockayne syndrome-findings in a patient with histiocytosis X: Skull and spine lesions, review of 18 cases

Author: Maria del C. Boente, Graciela Lavado, José Salman, Silvia Avila, and Hilda Bibas Bonet
Subjects: Pathology, medicine.medical_specialty, business.industry, Histiocytosis X, Anatomy, medicine.disease, Cockayne syndrome, Spine (zoology), Skull, medicine.anatomical_structure, Developmental Neuroscience, Neurology, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business
Published: 1992

32. Investigar e innovar la formación CTS inicial de profesores de ciencias aplicando una secuencia de enseñanza-aprendizaje sobre las decisiones tecnológicas

Author: Diana Hugo, Mara Olavegogeasoechea, Marcelo Salica, Laura Orlandini, and Silvia Ávila
Subjects: profesores en formación, naturaleza de la ciencia y la tecnología, secuencia de enseñanza-aprendizaje, decisiones tecnológicas, aprendizaje social, emociones, Education (General), L7-991, Special aspects of education, LC8-6691
Abstract: Este trabajo de investigación, enmarcado dentro del Proyecto Iberoamericano «Enseñanza y Aprendizaje sobre la Naturaleza de la Ciencia y Tecnología (EANCYT)» EDU2010-16553, financiado por Plan Nacional de I+D del Ministerio de Ciencia e Innovación (España), busca mejorar la comprensión sobre la naturaleza de la ciencia y tecnología (NdCyT) en profesores argentinos en formación, de ciencias exactas y naturales, y de enseñanza primaria. A partir de la enseñanza y evaluación de una secuencia de enseñanza-aprendizaje (SEA): Luces y sombras de la tecnología, centrada en las relaciones entre ciencia, tecnología y sociedad (CTS), se pretende hacer evolucionar actitudes reduccionistas de los mismos, respecto a las decisiones tecnológicas de un país democrático. Particularmente, se debate en torno al uso de la energía nuclear versus otras energías alternativas a partir de promover el aprendizaje social desde una mirada holística que contempla sus emociones. El impacto de la SEA se valoró a través de un análisis cuantitativo complementado con otro más cualitativo. Los resultados cuantitativos del pre y post test estandarizado arrojaron modestas mejoras; sin embargo, fueron más alentadores los del análisis cualitativo de las emociones que esta SEA les generó, explicitadas en su actividad de autoevaluación-autorregulación.
Published: 2014

33. Influência de métodos de desinfestação e tipos de explantes no estabelecimento in vitro de acessos de vetiver [Chrysopogon zizanioides (L.) Roberty]

Author: Silvia Ávila de Almeida, Aline Borba dos Santos, Thatiana Carvalho Santos, Maria de Fátima Arrigoni-Blank, and Arie Fitzgerald Blank
Subjects: desinfestação, explantes, acessos de vetiver, Plant culture, SB1-1110
Abstract: O objetivo deste trabalho foi o de avaliar o efeito de métodos de desinfestação e tipos de explantes no estabelecimento in vitro de acessos de vetiver [Chrysopogon zizanioides (L.) Roberty].
Published: 2007
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34. Escuelas, familias y contextos. Diálogo de experiencias en el marco de una propuesta de formación

Author: Olga Silvia Avila
Subjects: familias, escuelas, contextos, docentes, transformaciones, Education, Theory and practice of education, LB5-3640
Abstract: Este trabajo se inscribe en el Proyecto “Institucionalidades en construcción, sujetos y experiencias en contexto. Tensiones y aperturas en tiempos de demandas de igualdad”[1] y recoge reflexiones producidas en el seno del Curso “Escuelas, familias y contextos. Hacia la construcción de estrategias institucionales de trabajo en torno a una relación compleja”, encarado a propuesta del Instituto de Investigación y Capacitación de la Unión de Educadores de la Provincia de Córdoba. Dicha propuesta buscó aportar herramientas teórico metodológicas para comprender la relación entre familias y escuelas en contextos sociales complejos, y promover una mirada institucional en el trabajo. En nuestra perspectiva, la elaboración de conocimientos y el diseño de estrategias de formación docente encuentra un espacio fértil en la interrogación compartida de las problemáticas y tensiones vividas en el cotidiano escolar, para poner en diálogo las experiencias, las novedades, y las invenciones gestadas en las escuelas con las producciones surgidas el ámbito de la investigación. Nos proponemos aquí recuperar algunos registros descriptivos, intercambios y reflexiones en torno a las familias, sus características, heterogeneidades y problemáticas actuales en la mirada de los docentes y dar cuenta de las lecturas surgidas en el proceso formativo respecto esa relación atravesada por múltiples transformaciones. [1] Centro de Investigaciones “María Saleme de Burnichón”, Facultad de Filosofía y Humanidades, Secretaría de Ciencia y Técnica, Universidad Nacional de Córdoba.
Published: 2017

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34 results on '"Silvia Avila"'

1. Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics

2. 7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype

3. PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina

4. Weaning from mechanical ventilation in intensive care units across 50 countries (WEAN SAFE): a multicentre, prospective, observational cohort study

5. Urban Resilience and Spatial Dynamics

6. Correction to: Engineering the synthetic β-alanine pathway in Komagataella phaffii for conversion of methanol into 3-hydroxypropionic acid

7. Engineering the synthetic β-alanine pathway in Komagataella phaffii for conversion of methanol into 3-hydroxypropionic acid

8. iPSC-Derived Intestinal Organoids from Cystic Fibrosis Patients Acquire CFTR Activity upon TALEN-Mediated Repair of the p.F508del Mutation

9. Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics

10. Sujetos, derechos y transformaciones

11. Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina

12. ESCUELAS, FAMILIAS Y NIÑEZ. RELATOS Y REFLEXIONES EN TORNO A LA CONSTRUCCIÓN INSTITUCIONAL DE UNA RELACIÓN COMPLEJA

13. 7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype

14. Interstitial deletion of 2q24.2: Further delineation of an emerging syndrome associated with intellectual disability, severe hypotonia and moderate intrauterine growth restriction

15. Depsipeptides and peptide-mimetics, cyclics and acyclics, integrin αVβ3 inhibitors

16. Sequence variation and mRNA expression of the TWIST1 gene in cats with mammary hyperplasia and neoplasia

17. Cyclic RGD β-Lactam Peptidomimetics Induce Differential Gene Expression in Human Endothelial Cells

18. Tecnología: mucho más que aparatos

19. Luces y sombras de la Tecnología

20. A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations

21. Epidemiological and clinical profile between influenza A and B virus in Costa Rican children

22. Identification and characterization of four splicing variants of ovine POU1F1 gene

23. ESCUELA, JÓVENES Y CONTEXTOS: TENSIONES EN LA CONSTRUCCIÓN SOCIAL DEL DERECHO A LA SECUNDARIA EN LOS BARRIOS POPULARES DE CÓRDOBA.

24. A combined approach for gene discovery identifies insulin-like growth factor-binding protein-related protein 1 as a new gene implicated in human endometrial receptivity

25. Human endometrial receptivity: gene regulation

26. iPSC-Derived Intestinal Organoids from Cystic Fibrosis Patients Acquire CFTR Activity upon TALEN-Mediated Repair of the p.F508del Mutation

27. Differential gene expression of cytokines, chemokines, growth factors and their receptors in receptive versus non-receptive human endometrium

28. Differential Gene Expression in High Versus Low Endometrial Receptivitity Status

29. Narrative around tourism gentrification and urban shrinkage: a qualitative approach to the case of Porto

30. Congenital hemangioma with milialike structures: a case report

31. Cockayne syndrome-findings in a patient with histiocytosis X: Skull and spine lesions, review of 18 cases

32. Investigar e innovar la formación CTS inicial de profesores de ciencias aplicando una secuencia de enseñanza-aprendizaje sobre las decisiones tecnológicas

33. Influência de métodos de desinfestação e tipos de explantes no estabelecimento in vitro de acessos de vetiver [Chrysopogon zizanioides (L.) Roberty]

34. Escuelas, familias y contextos. Diálogo de experiencias en el marco de una propuesta de formación

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34 results on '"Silvia Avila"'

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