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3,373 results on '"RESTREPO, CARLOS A."'

3. Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients

Author

Sierra-Díaz, Diana Carolina, Morel, Adrien, Fonseca-Mendoza, Dora Janeth, Bravo, Nora Contreras, Molano-Gonzalez, Nicolas, Borras, Mariana, Munevar, Isabel, Lema, Mauricio, Idrobo, Henry, Trujillo, Daniela, Serrano, Norma, Orduz, Ana Isabel, Lopera, Diego, González, Jaime, Rojas, Gustavo, Londono-De Los Ríos, Paula, Manneh, Ray, Cabrera, Rodrigo, Rubiano, Wilson, de la Peña, Jairo, Quintero, María Catalina, Mantilla, William, and Restrepo, Carlos M.

Published
2024
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5. Effects of Aquatic Exercise on Physical Performance in Older Adults: A Systematic Review and Meta-Analysis.

Author

Buitrago-Restrepo, Carlos Mario, Patiño-Villada, Fredy Alonso, and Arango-Paternina, Carlos Mario

Subjects
LEG physiology, EXERCISE physiology, MEDICAL information storage & retrieval systems, THERAPEUTICS, META-analysis, FUNCTIONAL status, SYSTEMATIC reviews, MEDLINE, MUSCLE strength, AQUATIC exercises, MEDICAL databases, BODY movement, ONLINE information services, CONFIDENCE intervals, POSTURAL balance
Abstract

This systematic review aimed to evaluate the effects of aquatic exercise on physical performance in older adults. Databases were searched up to July 2021. Randomized controlled trials were screened by two reviewers, who extracted data and assessed study quality. Ten randomized controlled trials (603 participants) were included. Compared with nonexercising controls, aquatic exercise probably improved lower limb muscle power (30-s Chair Stand Test; mean difference 4.75 repetitions; 95% confidence interval [0.07, 9.42]; I2 = 99%; 251 participants; very low-quality evidence). When comparing aquatic exercise with land exercise, there is probably no superiority in favor of either intervention on dynamic balance (Timed Up and Go Test; mean difference −0.12 s; 95% confidence interval [−0.37, 0.12]; I2 = 3%; 244 participants; very low-quality evidence). [ABSTRACT FROM AUTHOR]

Published
2024
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7. Feasibility and outcomes of using DIALOG+ in primary care to improve quality of life and mental distress of patients with long-term physical conditions: an exploratory non-controlled study in Bosnia and Herzegovina, Colombia and Uganda

Author

van Loggerenberg, Francois, Akena, Dickens, Alinaitwe, Racheal, Birabwa-Oketcho, Harriet, Méndez, Camilo Andrés Cabarique, Gómez-Restrepo, Carlos, Kulenović, Alma Džubur, Selak, Nejra, Kiseljaković, Meliha, Musisi, Seggane, Nakasujja, Noeline, Sewankambo, Nelson K., and Priebe, Stefan

Published
2023
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22. Building Programs to Eradicate Toxoplasmosis Part I: Introduction and Overview

Author

Felín, Mariangela Soberón, Wang, Kanix, Moreira, Aliya, Grose, Andrew, Leahy, Karen, Zhou, Ying, Clouser, Fatima Alibana, Siddiqui, Maryam, Leong, Nicole, Goodall, Perpetua, Michalowski, Morgan, Ismail, Mahmoud, Christmas, Monica, Schrantz, Stephen, Caballero, Zuleima, Norero, Ximena, Estripeaut, Dora, Ellis, David, Raggi, Catalina, Castro, Catherine, Moossazadeh, Davina, Ramirez, Margarita, Pandey, Abhinav, Ashi, Kevin, Dovgin, Samantha, Dixon, Ashtyn, Li, Xuan, Begeman, Ian, Heichman, Sharon, Lykins, Joseph, Villalobos-Cerrud, Delba, Fabrega, Lorena, Montalvo, José Luis Sanchez, Mendivil, Connie, Quijada, Mario R., Fernández-Pirla, Silvia, de La Guardia, Valli, Wong, Digna, de Guevara, Mayrene Ladrón, Flores, Carlos, Borace, Jovanna, García, Anabel, Caballero, Natividad, Rengifo-Herrera, Claudia, de Saez, Maria Theresa Moreno, Politis, Michael, Wroblewski, Kristen, Karrison, Theodore, Ross, Stephanie, Dogra, Mimansa, Dhamsania, Vishan, Graves, Nicholas, Kirchberg, Marci, Mathur, Kopal, Aue, Ashley, Restrepo, Carlos M., Llanes, Alejandro, Guzman, German, Rebellon, Arturo, Boyer, Kenneth, Heydemann, Peter, Noble, A. Gwendolyn, Swisher, Charles, Rabiah, Peter, Withers, Shawn, Hull, Teri, Su, Chunlei, Blair, Michael, Latkany, Paul, Mui, Ernest, Vasconcelos-Santos, Daniel Vitor, Villareal, Alcibiades, Perez, Ambar, Galvis, Carlos Andrés Naranjo, Montes, Mónica Vargas, Perez, Nestor Ivan Cardona, Ramirez, Morgan, Chittenden, Cy, Wang, Edward, Garcia-López, Laura Lorena, Muñoz-Ortiz, Juliana, Rivera-Valdivia, Nicolás, Bohorquez-Granados, María Cristina, de-la-Torre, Gabriela Castaño, Padrieu, Guillermo, Hernandez, Juan David Valencia, Celis-Giraldo, Daniel, Dávila, Juan Alejandro Acosta, Torres, Elizabeth, Oquendo, Manuela Mejia, Arteaga-Rivera, José Y., Nicolae, Dan L., Rzhetsky, Andrey, Roizen, Nancy, Stillwaggon, Eileen, Sawers, Larry, Peyron, Francois, Wallon, Martine, Chapey, Emanuelle, Levigne, Pauline, Charter, Carmen, De Frias, Migdalia, Montoya, Jose, Press, Cindy, Ramirez, Raymund, Contopoulos-Ioannidis, Despina, Maldonado, Yvonne, Liesenfeld, Oliver, Gomez, Carlos, Wheeler, Kelsey, Holfels, Ellen, Frim, David, McLone, David, Penn, Richard, Cohen, William, Zehar, Samantha, McAuley, James, Limonne, Denis, Houze, Sandrine, Abraham, Sylvie, Piarroux, Raphael, Tesic, Vera, Beavis, Kathleen, Abeleda, Ana, Sautter, Mari, El Mansouri, Bouchra, El Bachir, Adlaoui, Amarir, Fatima, El Bissati, Kamal, de-la-Torre, Alejandra, Britton, Gabrielle, Motta, Jorge, Ortega-Barria, Eduardo, Romero, Isabel Luz, Meier, Paul, Grigg, Michael, Gómez-Marín, Jorge, Kosagisharaf, Jagannatha Rao, Llorens, Xavier Sáez, Reyes, Osvaldo, and McLeod, Rima

Published
2022
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23. Building Programs to Eradicate Toxoplasmosis Part IV: Understanding and Development of Public Health Strategies and Advances “Take a Village”

Author

Felín, Mariangela Soberón, Wang, Kanix, Moreira, Aliya, Grose, Andrew, Leahy, Karen, Zhou, Ying, Clouser, Fatima Alibana, Siddiqui, Maryam, Leong, Nicole, Goodall, Perpetua, Michalowski, Morgan, Ismail, Mahmoud, Christmas, Monica, Schrantz, Stephen, Caballero, Zuleima, Norero, Ximena, Estripeaut, Dora, Ellis, David, Raggi, Catalina, Castro, Catherine, Moossazadeh, Davina, Ramirez, Margarita, Pandey, Abhinav, Ashi, Kevin, Dovgin, Samantha, Dixon, Ashtyn, Li, Xuan, Begeman, Ian, Heichman, Sharon, Lykins, Joseph, Villalobos-Cerrud, Delba, Fabrega, Lorena, Montalvo, José Luis Sanchez, Mendivil, Connie, Quijada, Mario R., Fernández-Pirla, Silvia, de La Guardia, Valli, Wong, Digna, de Guevara, Mayrene Ladrón, Flores, Carlos, Borace, Jovanna, García, Anabel, Caballero, Natividad, Rengifo-Herrera, Claudia, de Saez, Maria Theresa Moreno, Politis, Michael, Ross, Stephanie, Dogra, Mimansa, Dhamsania, Vishan, Graves, Nicholas, Kirchberg, Marci, Mathur, Kopal, Aue, Ashley, Restrepo, Carlos M., Llanes, Alejandro, Guzman, German, Rebellon, Arturo, Boyer, Kenneth, Heydemann, Peter, Noble, A. Gwendolyn, Swisher, Charles, Rabiah, Peter, Withers, Shawn, Hull, Teri, Frim, David, McLone, David, Su, Chunlei, Blair, Michael, Latkany, Paul, Mui, Ernest, Vasconcelos-Santos, Daniel Vitor, Villareal, Alcibiades, Perez, Ambar, Galvis, Carlos Andrés Naranjo, Montes, Mónica Vargas, Perez, Nestor Ivan Cardona, Ramirez, Morgan, Chittenden, Cy, Wang, Edward, Garcia-López, Laura Lorena, Padrieu, Guillermo, Muñoz-Ortiz, Juliana, Rivera-Valdivia, Nicolás, Bohorquez-Granados, María Cristina, de-la-Torre, Gabriela Castaño, Hernandez, Juan David Valencia, Celis-Giraldo, Daniel, Dávila, Juan Alejandro Acosta, Torres, Elizabeth, Oquendo, Manuela Mejia, Arteaga-Rivera, José Y., Nicolae, Dan L, Rzhetsky, Andrey, Roizen, Nancy, Stillwaggon, Eileen, Sawers, Larry, Peyron, Francois, Wallon, Martine, Chapey, Emanuelle, Levigne, Pauline, Charter, Carmen, De Frias, Migdalia, Montoya, Jose, Press, Cindy, Ramirez, Raymund, Contopoulos-Ioannidis, Despina, Maldonado, Yvonne, Liesenfeld, Oliver, Gomez, Carlos, Wheeler, Kelsey, Zehar, Samantha, McAuley, James, Limonne, Denis, Houze, Sandrine, Abraham, Sylvie, Piarroux, Raphael, Tesic, Vera, Beavis, Kathleen, Abeleda, Ana, Sautter, Mari, El Mansouri, Bouchra, El Bachir, Adlaoui, Amarir, Fatima, El Bissati, Kamal, Holfels, Ellen, Frim, David, McLone, David, Penn, Richard, Cohen, William, de-la-Torre, Alejandra, Britton, Gabrielle, Motta, Jorge, Ortega-Barria, Eduardo, Romero, Isabel Luz, Meier, Paul, Grigg, Michael, Gómez-Marín, Jorge, Kosagisharaf, Jagannatha Rao, Llorens, Xavier Sáez, Reyes, Osvaldo, and McLeod, Rima

Published
2022
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24. Building Programs to Eradicate Toxoplasmosis Part II: Education

Author

Felín, Mariangela Soberón, Wang, Kanix, Moreira, Aliya, Grose, Andrew, Leahy, Karen, Zhou, Ying, Clouser, Fatima Alibana, Siddiqui, Maryam, Leong, Nicole, Goodall, Perpetua, Michalowski, Morgan, Ismail, Mahmoud, Christmas, Monica, Schrantz, Stephen, Caballero, Zuleima, Norero, Ximena, Estripeaut, Dora, Ellis, David, Raggi, Catalina, Castro, Catherine, Rengifo-Herrera, Claudia, Moossazadeh, Davina, Ramirez, Margarita, Pandey, Abhinav, Ashi, Kevin, Dovgin, Samantha, Dixon, Ashtyn, Li, Xuan, Begeman, Ian, Heichman, Sharon, Lykins, Joseph, Villalobos-Cerrud, Delba, Fabrega, Lorena, Montalvo, José Luis Sanchez, Mendivil, Connie, Quijada, Mario R., Fernández-Pirla, Silvia, de La Guardia, Valli, Wong, Digna, de Guevara, Mayrene Ladrón, Flores, Carlos, Borace, Jovanna, García, Anabel, Caballero, Natividad, de Saez, Maria Theresa Moreno, Politis, Michael, Ross, Stephanie, Dogra, Mimansa, Dhamsania, Vishan, Graves, Nicholas, Kirchberg, Marci, Mathur, Kopal, Aue, Ashley, Restrepo, Carlos M., Llanes, Alejandro, Guzman, German, Rebellon, Arturo, Boyer, Kenneth, Heydemann, Peter, Noble, A. Gwendolyn, Swisher, Charles, Rabiah, Peter, Withers, Shawn, Hull, Teri, Frim, David, McLone, David, Su, Chunlei, Blair, Michael, Latkany, Paul, Mui, Ernest, Vasconcelos-Santos, Daniel Vitor, Villareal, Alcibiades, Perez, Ambar, Galvis, Carlos Andrés Naranjo, Montes, Mónica Vargas, Perez, Nestor Ivan Cardona, Ramirez, Morgan, Chittenden, Cy, Wang, Edward, Garcia-López, Laura Lorena, Muñoz-Ortiz, Juliana, Rivera-Valdivia, Nicolás, Bohorquez-Granados, María Cristina, de-la-Torre, Gabriela Castaño, Padrieu, Guillermo, Hernandez, Juan David Valencia, Celis-Giraldo, Daniel, Dávila, John Alejandro Acosta, Torres, Elizabeth, Oquendo, Manuela Mejia, Arteaga-Rivera, José Y., Nicolae, Dan L., Rzhetsky, Andrey, Roizen, Nancy, Stillwaggon, Eileen, Sawers, Larry, Peyron, Francois, Wallon, Martine, Chapey, Emanuelle, Levigne, Pauline, Charter, Carmen, De Frias, Migdalia, Montoya, Jose, Press, Cindy, Ramirez, Raymund, Contopoulos-Ioannidis, Despina, Maldonado, Yvonne, Liesenfeld, Oliver, Gomez, Carlos, Wheeler, Kelsey, Zehar, Samantha, McAuley, James, Limonne, Denis, Houze, Sandrine, Abraham, Sylvie, Piarroux, Raphael, Tesic, Vera, Beavis, Kathleen, Abeleda, Ana, Sautter, Mari, El Mansouri, Bouchra, El Bachir, Adlaoui, Amarir, Fatima, El Bissati, Kamal, Holfels, Ellen, Penn, Richard, Cohen, William, de-la-Torre, Alejandra, Britton, Gabrielle, Motta, Jorge, Ortega-Barria, Eduardo, Romero, Isabel Luz, Meier, Paul, Grigg, Michael, Gómez-Marín, Jorge, Kosagisharaf, Jagannatha Rao, Llorens, Xavier Sáez, Reyes, Osvaldo, and McLeod, Rima

Published
2022
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28. Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings

Author

Aguillon, David, Vasquez, Daniel, Madrigal, Lucia, Moreno, Sonia, Hernández, Dora, Isaza-Ruget, Mario, Lopez, Juan Javier, Landires, Iván, Nuñez-Samudio, Virginia, Restrepo, Carlos M., Vidal, Oscar M., Vélez, Jorge I., Arcos-Holzinger, Mauricio, Lopera, Francisco, and Arcos-Burgos, Mauricio

Published
2022
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32. Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1.

Author

Arias-Flórez, Juan Sebastian, Ramirez, Sandra Ximena, Bayona-Gomez, Bibiana, Castro-Castillo, Lina, Correa-Martinez, Valeria, Sanchez-Gomez, Yasmín, Usaquén-Martínez, William, Casas-Vargas, Lilian Andrea, Olmos Olmos, Carlos Eduardo, Contreras Bravo, Nora, Velandia-Piedrahita, Camilo Andres, Morel, Adrien, Cabrera-Perez, Rodrigo, Santiago-Tovar, Natalia, Gaviria-Sabogal, Cristian Camilo, Bernal, Ingrid Tatyana, Fonseca-Mendoza, Dora Janeth, and Restrepo, Carlos M.

Subjects
ETIOLOGY of diseases, DEEP learning, PROTEIN structure, NUCLEOTIDE sequencing, GENETIC disorders
Abstract

Hereditary angioedema type 1 (HAE1) is a rare, genetically heterogeneous, and autosomal dominant disease. It is a highly variable, insidious, and potentially life-threatening condition, characterized by sudden local, often asymmetric, and episodic subcutaneous and submucosal swelling, caused by pathogenic molecular variants in the SERPING1 gene, which codes for C1-Inhibitor protein. This study performed the phenotypic and molecular characterization of a HAE1 cluster that includes the largest number of affected worldwide. A geographically HAE1 cluster was found in the northeast Colombian department of Boyaca, which accounts for four unrelated families, with 79 suspected to be affected members. Next-Generation Sequencing (NGS) was performed in 2 out of 4 families (Family 1 and Family 4), identifying the variants c.1420C>T and c.1238T>G, respectively. The latter corresponds to a novel mutation. For Families 2 and 3, the c.1417G>A variant was confirmed by Sanger sequencing. This variant had been previously reported to the patient prior to the beginning of this study. Using deep-learning methods, the structure of the C1-Inhibitor protein, p.Gln474* and p.Met413Arg was predicted, and we propose the molecular mechanism related to the etiology of the disease. Using Sanger sequencing, family segregation analysis was performed on 44 individuals belonging to the families analyzed. The identification of this cluster and its molecular analysis will allow the timely identification of new cases and the establishment of adequate treatment strategies. Our results establish the importance of performing population genetic studies in a multi-cluster region for genetic diseases. [ABSTRACT FROM AUTHOR]

Published
2024
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36. Autores

Author

Perea Restrepo, Carlos M., Parada Hernández, María M., Gutiérrez Sanín, Francisco, Barrera, Víctor, and Peña, Mario

Published
2020

37. Contracubierta

Author

Perea Restrepo, Carlos M., Parada Hernández, María M., Gutiérrez Sanín, Francisco, Barrera, Víctor, and Peña, Mario

Published
2020

38. Presentación

Author

Perea Restrepo, Carlos M., Parada Hernández, María M., Gutiérrez Sanín, Francisco, Barrera, Víctor, and Peña, Mario

Published
2020

44. Violencias que Persisten

Author

Perea Restrepo, Carlos M., Parada Hernández, María M., Gutiérrez Sanín, Francisco, Barrera, Víctor, and Peña, Mario

Published
2020

45. Página de Derechos de Autor

Author

Perea Restrepo, Carlos M., Parada Hernández, María M., Gutiérrez Sanín, Francisco, Barrera, Víctor, and Peña, Mario

Published
2020

46. Epílogo

Author

Perea Restrepo, Carlos M., Parada Hernández, María M., Gutiérrez Sanín, Francisco, Barrera, Víctor, and Peña, Mario

Published
2020

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