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3. Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia:A Global Call to Action

Author

Wilemon, Katherine A., Patel, Jasmine, Aguilar-Salinas, Carlos, Ahmed, Catherine D., Alkhnifsawi, Mutaz, Almahmeed, Wael, Alonso, Rodrigo, Al-Rasadi, Khalid, Badimon, Lina, Bernal, Luz M., Bogsrud, Martin P., Braun, Lynne T., Brunham, Liam, Catapano, Alberico L., Čillíková, Kristyna, Corral, Pablo, Cuevas, Regina, Defesche, Joep C., Descamps, Olivier S., De Ferranti, Sarah, Eiselé, Jean Luc, Elikir, Gerardo, Folco, Emanuela, Freiberger, Tomas, Fuggetta, Francesco, Gaspar, Isabel M., Gesztes, Ákos G., Grošelj, Urh, Hamilton-Craig, Ian, Hanauer-Mader, Gabriele, Harada-Shiba, Mariko, Hastings, Gloria, Hovingh, G. Kees, Izar, Maria C., Jamison, Allison, Karlsson, Gunnar N., Kayikçioǧlu, Meral, Koob, Sue, Koseki, Masahiro, Lane, Stacey, Lima-Martinez, Marcos M., López, Greizy, Martinez, Tania L., Marais, David, Marion, Letrillart, Mata, Pedro, Maurina, Inese, Maxwell, Diana, Mehta, Roopa, Nordestgaard, Børge G., Wilemon, Katherine A., Patel, Jasmine, Aguilar-Salinas, Carlos, Ahmed, Catherine D., Alkhnifsawi, Mutaz, Almahmeed, Wael, Alonso, Rodrigo, Al-Rasadi, Khalid, Badimon, Lina, Bernal, Luz M., Bogsrud, Martin P., Braun, Lynne T., Brunham, Liam, Catapano, Alberico L., Čillíková, Kristyna, Corral, Pablo, Cuevas, Regina, Defesche, Joep C., Descamps, Olivier S., De Ferranti, Sarah, Eiselé, Jean Luc, Elikir, Gerardo, Folco, Emanuela, Freiberger, Tomas, Fuggetta, Francesco, Gaspar, Isabel M., Gesztes, Ákos G., Grošelj, Urh, Hamilton-Craig, Ian, Hanauer-Mader, Gabriele, Harada-Shiba, Mariko, Hastings, Gloria, Hovingh, G. Kees, Izar, Maria C., Jamison, Allison, Karlsson, Gunnar N., Kayikçioǧlu, Meral, Koob, Sue, Koseki, Masahiro, Lane, Stacey, Lima-Martinez, Marcos M., López, Greizy, Martinez, Tania L., Marais, David, Marion, Letrillart, Mata, Pedro, Maurina, Inese, Maxwell, Diana, Mehta, Roopa, and Nordestgaard, Børge G.

Abstract

Importance: Familial hypercholesterolemia (FH) is an underdiagnosed and undertreated genetic disorder that leads to premature morbidity and mortality due to atherosclerotic cardiovascular disease. Familial hypercholesterolemia affects 1 in 200 to 250 people around the world of every race and ethnicity. The lack of general awareness of FH among the public and medical community has resulted in only 10% of the FH population being diagnosed and adequately treated. The World Health Organization recognized FH as a public health priority in 1998 during a consultation meeting in Geneva, Switzerland. The World Health Organization report highlighted 11 recommendations to address FH worldwide, from diagnosis and treatment to family screening and education. Research since the 1998 report has increased understanding and awareness of FH, particularly in specialty areas, such as cardiology and lipidology. However, in the past 20 years, there has been little progress in implementing the 11 recommendations to prevent premature atherosclerotic cardiovascular disease in an entire generation of families with FH. Observations: In 2018, the Familial Hypercholesterolemia Foundation and the World Heart Federation convened the international FH community to update the 11 recommendations. Two meetings were held: one at the 2018 FH Foundation Global Summit and the other during the 2018 World Congress of Cardiology and Cardiovascular Health. Each meeting served as a platform for the FH community to examine the original recommendations, assess the gaps, and provide commentary on the revised recommendations. The Global Call to Action on Familial Hypercholesterolemia thus represents individuals with FH, advocacy leaders, scientific experts, policy makers, and the original authors of the 1998 World Health Organization report. Attendees from 40 countries brought perspectives on FH from low-, middle-, and high-income regions. Tables listing country-specific government support for FH care, existing

Published
2020

4. Statin-associated muscle symptoms: position paper from the Luso-Latin American Consortium

Author

Sposito, Andrei C., primary, Faria Neto, José Rocha, additional, Carvalho, Luiz Sergio F. de, additional, Lorenzatti, Alberto, additional, Cafferata, Alberto, additional, Elikir, Gerardo, additional, Esteban, Eduardo, additional, Morales Villegas, Enrique C., additional, Bodanese, Luiz Carlos, additional, Alonso, Rodrigo, additional, Ruiz, Alvaro J., additional, Rocha, Viviane Z., additional, Faludi, André A., additional, Xavier, Hermes T., additional, Coelho, Otávio Rizzi, additional, Assad, Marcelo H.V., additional, Izar, Maria C., additional, Santos, Raul D., additional, Fonseca, Francisco A.H., additional, Mello e Silva, Alberto, additional, Silva, Pedro Marques da, additional, and Bertolami, Marcelo C., additional

Published
2016
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5. Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action

Author

Wilemon, Katherine A., Patel, Jasmine, Aguilar-Salinas, Carlos, Ahmed, Catherine D., Alkhnifsawi, Mutaz, Almahmeed, Wael, Alonso, Rodrigo, Al-Rasadi, Khalid, Badimon, Lina, Bernal, Luz M., Bogsrud, Martin P., Braun, Lynne T., Brunham, Liam, Catapano, Alberico L., Cillíková, Kristyna, Corral, Pablo, Cuevas, Regina, Defesche, Joep C., Descamps, Olivier S., de Ferranti, Sarah, Eiselé, Jean-Luc, Elikir, Gerardo, Folco, Emanuela, Freiberger, Tomas, Fuggetta, Francesco, Gaspar, Isabel M., Gesztes, Ákos G., Grošelj, Urh, Hamilton-Craig, Ian, Hanauer-Mader, Gabriele, Harada-Shiba, Mariko, Hastings, Gloria, Hovingh, G. Kees, Izar, Maria C., Jamison, Allison, Karlsson, Gunnar N., Kayikçioglu, Meral, Koob, Sue, Koseki, Masahiro, Lane, Stacey, Lima-Martinez, Marcos M., López, Greizy, Martinez, Tania L., Marais, David, Marion, Letrillart, Mata, Pedro, Maurina, Inese, Maxwell, Diana, Mehta, Roopa, Mensah, George A., Miserez, André R., Neely, Dermot, Nicholls, Stephen J., Nohara, Atsushi, Nordestgaard, Børge G., Ose, Leiv, Pallidis, Athanasios, Pang, Jing, Payne, Jules, Peterson, Amy L., Popescu, Monica P., Puri, Raman, Ray, Kausik K., Reda, Ashraf, Sampietro, Tiziana, Santos, Raul D., Schalkers, Inge, Schreier, Laura, Shapiro, Michael D., Sijbrands, Eric, Soffer, Daniel, Stefanutti, Claudia, Stoll, Mario, Sy, Rody G., Tamayo, Martha L., Tilney, Myra K., Tokgözoglu, Lale, Tomlinson, Brian, Vallejo-Vaz, Antonio J., Vazquez-Cárdenas, Alejandra, de Luca, Patrícia Vieira, Wald, David S., Watts, Gerald F., Wenger, Nanette K., Wolf, Michaela, Wood, David, Zegerius, Aram, Gaziano, Thomas A., and Gidding, Samuel S.

Abstract

IMPORTANCE: Familial hypercholesterolemia (FH) is an underdiagnosed and undertreated genetic disorder that leads to premature morbidity and mortality due to atherosclerotic cardiovascular disease. Familial hypercholesterolemia affects 1 in 200 to 250 people around the world of every race and ethnicity. The lack of general awareness of FH among the public and medical community has resulted in only 10% of the FH population being diagnosed and adequately treated. The World Health Organization recognized FH as a public health priority in 1998 during a consultation meeting in Geneva, Switzerland. The World Health Organization report highlighted 11 recommendations to address FH worldwide, from diagnosis and treatment to family screening and education. Research since the 1998 report has increased understanding and awareness of FH, particularly in specialty areas, such as cardiology and lipidology. However, in the past 20 years, there has been little progress in implementing the 11 recommendations to prevent premature atherosclerotic cardiovascular disease in an entire generation of families with FH. OBSERVATIONS: In 2018, the Familial Hypercholesterolemia Foundation and the World Heart Federation convened the international FH community to update the 11 recommendations. Two meetings were held: one at the 2018 FH Foundation Global Summit and the other during the 2018 World Congress of Cardiology and Cardiovascular Health. Each meeting served as a platform for the FH community to examine the original recommendations, assess the gaps, and provide commentary on the revised recommendations. The Global Call to Action on Familial Hypercholesterolemia thus represents individuals with FH, advocacy leaders, scientific experts, policy makers, and the original authors of the 1998 World Health Organization report. Attendees from 40 countries brought perspectives on FH from low-, middle-, and high-income regions. Tables listing country-specific government support for FH care, existing country-specific and international FH scientific statements and guidelines, country-specific and international FH registries, and known FH advocacy organizations around the world were created. CONCLUSIONS AND RELEVANCE: By adopting the 9 updated public policy recommendations created for this document, covering awareness; advocacy; screening, testing, and diagnosis; treatment; family-based care; registries; research; and cost and value, individual countries have the opportunity to prevent atherosclerotic heart disease in their citizens carrying a gene associated with FH and, likely, all those with severe hypercholesterolemia as well.

Published
2020
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6. Statin-associated muscle symptoms: position paper from the Luso-Latin American Consortium.

Author

Sposito, Andrei C., Faria Neto, José Rocha, Carvalho, Luiz Sergio F. de, Lorenzatti, Alberto, Cafferata, Alberto, Elikir, Gerardo, Esteban, Eduardo, Morales Villegas, Enrique C., Bodanese, Luiz Carlos, Alonso, Rodrigo, Ruiz, Alvaro J., Rocha, Viviane Z., Faludi, André A., Xavier, Hermes T., Coelho, Otávio Rizzi, Assad, Marcelo H.V., Izar, Maria C., Santos, Raul D., Fonseca, Francisco A.H., and Mello e Silva, Alberto

Subjects
STATINS (Cardiovascular agents), MUSCLE diseases, CARDIOVASCULAR disease prevention, DISEASE risk factors, ANTILIPEMIC agents
Abstract

In the last two decades, statin therapy has proved to be the most potent isolated therapy for attenuation of cardiovascular risk. Its frequent use has been seen as one of the most important elements for the reduction of cardiovascular mortality in developed countries. However, the recurrent incidence of muscle symptoms in statin users raised the possibility of causal association, leading to a disease entity known as statin associated muscle symptoms (SAMS). Mechanistic studies and clinical trials, specifically designed for the study of SAMS have allowed a deeper understanding of the natural history and accurate incidence. This set of information becomes essential to avoid an unnecessary risk of severe forms of SAMS. At the same time, this concrete understanding of SAMS prevents overdiagnosis and an inadequate suspension of one of the most powerful prevention strategies of our times. In this context, the Luso-Latin American Consortium gathered all available information on the subject and presents them in detail in this document as the basis for the identification and management of SAMS. [ABSTRACT FROM AUTHOR]

Published
2017
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9. Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia A Global Call to Action

Author

Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana, López Leal, Greizy, Tamayo, Martha Lucia, Wilemon, Katherine A., Patel, Jasmine, Aguilar-Salinas, Carlos, Ahmed, Catherine D., Alkhnifsawi, Mutaz, Almahmeed, Wael, Alonso, Rodrigo, Al-Rasadi, Khalid, Badimon, Lina, Bernal, Luz M., Bogsrud, Martin P., Braun, Lynne T., Brunham, Liam, Catapano, Alberico L., Čillíková, Kristyna, Corral, Pablo, Cuevas, Regina, Defesche, Joep C., Descamps, Olivier S., de Ferranti, Sarah, Eiselé, Jean-Luc, Elikir, Gerardo, Folco, Emanuela, Freiberger, Tomas, Fuggetta, Francesco, Gaspar, Isabel M., Gesztes, Ákos G., Grošelj, Urh, Hamilton-Craig, Ian, Hanauer-Mader, Gabriele, Harada-Shiba, Mariko, Hastings, Gloria, Hovingh, G. Kees, Izar, Maria C., Jamison, Allison, Kayikçioğlu, Meral, Koob, Sue, Koseki, Masahiro, Lane, Stacey, Lima-Martinez, Marcos M., Martinez, Tania L., Marais, David, Marion, Letrillart, Mata, Pedro, Maurina, Inese, Maxwell, Diana, Mehta, Roopa, Mensah, George A., Miserez, André R., Neely, Dermot, Nicholls, Stephen J., Nohara, Atsushi, Nordestgaard, Børge G., Ose, Leiv, Pallidis, Athanasios, Pang, Jing, Payne, Jules, Peterson, Amy L., Popescu, Monica P., Puri, Raman, Ray, Kausik K., Reda, Ashraf, Sampietro, Tiziana, Santos, Raul D., Schalkers, Inge, Schreier, Laura, Shapiro, Michael D., Sijbrands, Eric, Soffer, Daniel, Stefanutti, Claudia, Stoll, Mario, Sy, Rody G., Tilney, Myra K., Tokgözoğlu, Lale, Tomlinson, Brian, Vallejo-Vaz, Antonio J., Vazquez-Cárdenas, Alejandra, Vieira de Luca, Patrícia, Wald, David S., Watts, Gerald F., Wenger, Nanette K., Wolf, Michaela, Wood, David, Zegerius, Aram, Gaziano, Thomas A., Gidding, Samuel S., Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana, López Leal, Greizy, Tamayo, Martha Lucia, Wilemon, Katherine A., Patel, Jasmine, Aguilar-Salinas, Carlos, Ahmed, Catherine D., Alkhnifsawi, Mutaz, Almahmeed, Wael, Alonso, Rodrigo, Al-Rasadi, Khalid, Badimon, Lina, Bernal, Luz M., Bogsrud, Martin P., Braun, Lynne T., Brunham, Liam, Catapano, Alberico L., Čillíková, Kristyna, Corral, Pablo, Cuevas, Regina, Defesche, Joep C., Descamps, Olivier S., de Ferranti, Sarah, Eiselé, Jean-Luc, Elikir, Gerardo, Folco, Emanuela, Freiberger, Tomas, Fuggetta, Francesco, Gaspar, Isabel M., Gesztes, Ákos G., Grošelj, Urh, Hamilton-Craig, Ian, Hanauer-Mader, Gabriele, Harada-Shiba, Mariko, Hastings, Gloria, Hovingh, G. Kees, Izar, Maria C., Jamison, Allison, Kayikçioğlu, Meral, Koob, Sue, Koseki, Masahiro, Lane, Stacey, Lima-Martinez, Marcos M., Martinez, Tania L., Marais, David, Marion, Letrillart, Mata, Pedro, Maurina, Inese, Maxwell, Diana, Mehta, Roopa, Mensah, George A., Miserez, André R., Neely, Dermot, Nicholls, Stephen J., Nohara, Atsushi, Nordestgaard, Børge G., Ose, Leiv, Pallidis, Athanasios, Pang, Jing, Payne, Jules, Peterson, Amy L., Popescu, Monica P., Puri, Raman, Ray, Kausik K., Reda, Ashraf, Sampietro, Tiziana, Santos, Raul D., Schalkers, Inge, Schreier, Laura, Shapiro, Michael D., Sijbrands, Eric, Soffer, Daniel, Stefanutti, Claudia, Stoll, Mario, Sy, Rody G., Tilney, Myra K., Tokgözoğlu, Lale, Tomlinson, Brian, Vallejo-Vaz, Antonio J., Vazquez-Cárdenas, Alejandra, Vieira de Luca, Patrícia, Wald, David S., Watts, Gerald F., Wenger, Nanette K., Wolf, Michaela, Wood, David, Zegerius, Aram, Gaziano, Thomas A., and Gidding, Samuel S.

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