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1. Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study: Differences in methods and reference values

Author

Addington, J.M., Ajroud-Driss, S., Andersen, H., Antonini, G., Attarian, S., Badrising, U.A., Balloy, G., Barroso, F.A., Bateman, K., Bella, I.R., Benedetti, L., van den Bergh, P., Bertorini, T.E., Bhavaraju-Sanka, R., Bianco, M., Brannagan, T.H., Briani, C., Buerrmann, Busby, M., Butterworth, S., Casasnovas, C., Cavaletti, G., Chao, C.C., Chavada, G., Chen, S., Claeys, K.G., Conti, M.E., Cornblath, D.R., Cosgrove, J.S., Dalakas, M.C., van Damme, P., Dardiotis, E., Davidson, A., Derejko, M.A., van Dijk, G.W., Dimachkie, M.M., van Doorn, P.A., Dornonville de la Cour, C., Echaniz-Laguna, A., Eftimov, F., Faber, C.G., Fazio, R., Feasby, T.E., Fokke, C., Fujioka, T., Fulgenzi, E.A., Galassi, G., Garcia-Sobrino, T., Garssen, M.P.J., Gijsbers, C.J., Gilchrist, J.M., Gilhuis, H.J., Goldstein, J.M., Gorson, K.C., Goyal, N.A., Granit, V., Grisanti, S.T.E., Gutiérrez-Gutiérrez, Gutmann, L., Hadden, R.D.M., Harbo, T., Hartung, H.P., Holbech, J.V., Holt, J.K.L., Hsieh, S.T., Htut, M., Hughes, R.A.C., Illa, I., Islam, B., Islam, Z., Jacobs, B.C., Fehmi, J., Jellema, K., Jerico Pascual, I., Kaida, K., Karafiath, S., Katzberg, H.D., Khoshnoodi, M.A., Kiers, L., Kimpinski, K., Kleyweg, R.P., Kokubun, N., Kolb, N.A., van Koningsveld, R., van der Kooi, A.J., Kramers, J.C.H.M., Kuitwaard, K., Kusunoki, S., Kuwabara, S., Kwan, J.Y., Ladha, S.S., Landschoff Lassen, L., Lawson, V., Lehmann, H.C., Lee Pan, E., Lunn, M.P.T., Manji, H., Marfia, G.A., Márquez Infante, C., Martin-Aguilar, L., Martinez Hernandez, E., Mataluni, G., Mattiazi, M., McDermott, C.J., Meekins, G.D., Miller, J.A.L., Mohammad, Q.D., Monges, M.S., Moris de la Tassa, G., Nascimbene, C., Navacerrada-Barrero, F.J., Nobile-Orazio, E., Nowak, R.J., Orizaola, P.J., Osei-Bonsu, M., Pardal, A.M., Pardo, J., Pascuzzi, R.M., Péréon, Y., Pulley, M.T., Querol, L., Reddel, S.W., van der Ree, T., Reisin, R.C., Rinaldi, S., Roberts, R.C., Rojas-Marcos, I., Rudnicki, Sachs, G.M., Samijn, J.P.A., Santoro, L., Schenone, A., Sedano Tous, M.J., Shahrizaila, N., Sheikh, K.A., Silvestri, N.J., Sindrup, S.H., Sommer, C.L., Stein, B., Song, Y., Stino, A.M., Tankisi, H., Tannemaat, M.R., Twydell, P., Vélez-Santamaria, P.V., Varrato, J.D., Vermeij, F.H., Visser, L.H., Vytopil, M.V., Waheed, W., Walgaard, C., Wang, Y.Z., Willison, H.J., Wirtz, P.W., Yamagishi, Y., Zhou, L., Zivkovic, S.A., Arends, Samuel, Drenthen, Judith, van den Bergh, Peter, Franssen, Hessel, Hadden, Robert D.M., Islam, Badrul, Kuwabara, Satoshi, Reisin, Ricardo C., Shahrizaila, Nortina, Amino, Hiroshi, Antonini, Giovanni, Attarian, Shahram, Balducci, Claudia, Barroso, Fabio, Bertorini, Tulio, Binda, Davide, Brannagan, Thomas H., Buermann, Jan, Casasnovas, Carlos, Cavaletti, Guido, Chao, Chi-Chao, Dimachkie, Mazen M., Fulgenzi, Ernesto A., Galassi, Giuliana, Gutiérrez Gutiérrez, Gerardo, Harbo, Thomas, Hartung, Hans-Peter, Hsieh, Sung-Tsang, Kiers, Lynette, Lehmann, Helmar C., Manganelli, Fiore, Marfia, Girolama A., Mataluni, Giorgia, Pardo, Julio, Péréon, Yann, Rajabally, Yusuf A., Santoro, Lucio, Sekiguchi, Yukari, Stein, Beth, Stettner, Mark, Uncini, Antonino, Verboon, Christine, Verhamme, Camiel, Vytopil, Michal, Waheed, Waqar, Wang, Min, Zivkovic, Sasha, Jacobs, Bart C., and Cornblath, David R.

Published
2022
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2. Estudio epidemiológico multicéntrico sobre esclerosis lateral amiotrófica en la Ciudad de Buenos Aires

Author

Pérez Akly, Manuel, Schiava, Marianela, Melcom, Mario, Rodríguez, Gabriel, Gargiulo, Gisella, Bettini, Mariela, Reisin, Ricardo, Bendersky, Mariana, Barroso, Fabio, Brand, Patricio, de Ambrosi, Bruno, Di Egidio, Marianna, Fiorotto, Luis, Jáuregui, Agustín, Landriscina, Paula, Marchesoni, Cintia, Mazia, Claudio, Rey, Roberto, Rugiero, Marcelo, Salutto, Valeria, Tillard, Belén, and Fulgenzi, Ernesto

Published
2017
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3. Exposure to endogenous and exogenous sex hormones and reproductive history influence prognosis in women with ALS

Author

Gonzalez Deniselle, M. Claudia, primary, Bettini, Mariela, additional, Garrido, Rosa M., additional, Meyer, Maria, additional, Lara, Agustina, additional, Garay, Laura I., additional, Casas, Sebastian, additional, Fulgenzi, Ernesto, additional, Nuñez, Myriam, additional, Rugiero, Marcelo F., additional, De Nicola, Alejandro F., additional, and Gargiulo‐Monachelli, Gisella, additional

Published
2023
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4. Consenso argentino para el diagnóstico, seguimiento y tratamiento de la enfermedad de Pompe

Author

Dubrovsky, Alberto, Fulgenzi, Ernesto, Amartino, Hernán, Carlés, Daniel, Corderi, José, de Vito, Eduardo, Fainboim, Alejandro, Ferradás, Nélida, Guelbert, Norberto, Lubieniecki, Fabiana, Mazia, Claudio, Mesa, Lilia, Monges, Soledad, Pesquero, Joao, Reisin, Ricardo, Rugiero, Marcelo, Schenone, Andrea, Szlago, Marina, Taratuto, Ana Lia, and Zgaga, Marisa

Published
2014
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5. NEUROSARCOIDOSIS: INICIO CON COMPROMISO DE MÚLTIPLES SITIOS NEUROLÓGICOS.

Author

ZLOTOGWIAZDA, IARA I., POROPAT, CAROLINA A., ARMESTO, MARÍA E., GANTIER, DIMELSA N., ÁLVAREZ, SOLEDAD, FULGENZI, ERNESTO, MASDEU, MARTIN, CUBA, AZUL, and MINDLIN, PATRICIA E.

Abstract

Copyright of Medicina (Buenos Aires) is the property of Medicina (Buenos Aires) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2023

6. Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study: Differences in methods and reference values.

Author

UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service de neurologie, Arends, Samuel, Drenthen, Judith, van den Bergh, Peter, Franssen, Hessel, Hadden, Robert D M, Islam, Badrul, Kuwabara, Satoshi, Reisin, Ricardo C, Shahrizaila, Nortina, Amino, Hiroshi, Antonini, Giovanni, Attarian, Shahram, Balducci, Claudia, Barroso, Fabio, Bertorini, Tulio, Binda, Davide, Brannagan, Thomas H, Buermann, Jan, Casasnovas, Carlos, Cavaletti, Guido, Chao, Chi-Chao, Dimachkie, Mazen M, Fulgenzi, Ernesto A, Galassi, Giuliana, Gutiérrez Gutiérrez, Gerardo, Harbo, Thomas, Hartung, Hans-Peter, Hsieh, Sung-Tsang, Kiers, Lynette, Lehmann, Helmar C, Manganelli, Fiore, Marfia, Girolama A, Mataluni, Giorgia, Pardo, Julio, Péréon, Yann, Rajabally, Yusuf A, Santoro, Lucio, Sekiguchi, Yukari, Stein, Beth, Stettner, Mark, Uncini, Antonino, Verboon, Christine, Verhamme, Camiel, Vytopil, Michal, Waheed, Waqar, Wang, Min, Zivkovic, Sasha, Jacobs, Bart C, Cornblath, David R, IGOS consortium, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service de neurologie, Arends, Samuel, Drenthen, Judith, van den Bergh, Peter, Franssen, Hessel, Hadden, Robert D M, Islam, Badrul, Kuwabara, Satoshi, Reisin, Ricardo C, Shahrizaila, Nortina, Amino, Hiroshi, Antonini, Giovanni, Attarian, Shahram, Balducci, Claudia, Barroso, Fabio, Bertorini, Tulio, Binda, Davide, Brannagan, Thomas H, Buermann, Jan, Casasnovas, Carlos, Cavaletti, Guido, Chao, Chi-Chao, Dimachkie, Mazen M, Fulgenzi, Ernesto A, Galassi, Giuliana, Gutiérrez Gutiérrez, Gerardo, Harbo, Thomas, Hartung, Hans-Peter, Hsieh, Sung-Tsang, Kiers, Lynette, Lehmann, Helmar C, Manganelli, Fiore, Marfia, Girolama A, Mataluni, Giorgia, Pardo, Julio, Péréon, Yann, Rajabally, Yusuf A, Santoro, Lucio, Sekiguchi, Yukari, Stein, Beth, Stettner, Mark, Uncini, Antonino, Verboon, Christine, Verhamme, Camiel, Vytopil, Michal, Waheed, Waqar, Wang, Min, Zivkovic, Sasha, Jacobs, Bart C, Cornblath, David R, and IGOS consortium

Abstract

To describe the heterogeneity of electrodiagnostic (EDx) studies in Guillain-Barré syndrome (GBS) patients collected as part of the International GBS Outcome Study (IGOS). Prospectively collected clinical and EDx data were available in 957 IGOS patients from 115 centers. Only the first EDx study was included in the current analysis. Median timing of the EDx study was 7 days (interquartile range 4-11) from symptom onset. Methodology varied between centers, countries and regions. Reference values from the responding 103 centers were derived locally in 49%, from publications in 37% and from a combination of these in the remaining 15%. Amplitude measurement in the EDx studies (baseline-to-peak or peak-to-peak) differed from the way this was done in the reference values, in 22% of motor and 39% of sensory conduction. There was marked variability in both motor and sensory reference values, although only a few outliers accounted for this. Our study showed extensive variation in the clinical practice of EDx in GBS patients among IGOS centers across the regions. Besides EDx variation in GBS patients participating in IGOS, this diversity is likely to be present in other neuromuscular disorders and centers. This underlines the need for standardization of EDx in future multinational GBS studies.

Published
2022

7. Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study: Differences in methods and reference values

Author

Arends, Samuel, Drenthen, Judith, van den Bergh, Peter, Franssen, Hessel, Hadden, Robert D. M., Islam, Badrul, Kuwabara, Satoshi, Reisin, Ricardo C., Shahrizaila, Nortina, Amino, Hiroshi, Antonini, Giovanni, Attarian, Shahram, Balducci, Claudia, Barroso, Fabio, Bertorini, Tulio, Binda, Davide, Brannagan, Thomas H., Buermann, Jan, Casasnovas, Carlos, Cavaletti, Guido, Chao, Chi-Chao, Dimachkie, Mazen M., Fulgenzi, Ernesto A., Galassi, Giuliana, Gutierrez, Gerardo Gutierrez, Harbo, Thomas, Hartung, Hans-Peter, Hsieh, Sung-Tsang, Kiers, Lynette, Lehmann, Helmar C., Manganelli, Fiore, Marfia, Girolama A., Mataluni, Giorgia, Pardo, Julio, Pereon, Yann, Rajabally, Yusuf A., Santoro, Lucio, Sekiguchi, Yukari, Stein, Beth, Stettner, Mark, Uncini, Antonino, Verboon, Christine, Verhamme, Camiel, Vytopil, Michal, Waheed, Waqar, Wang, Min, Zivkovic, Sasha, Jacobs, Bart C., Cornblath, David R., Arends, Samuel, Drenthen, Judith, van den Bergh, Peter, Franssen, Hessel, Hadden, Robert D. M., Islam, Badrul, Kuwabara, Satoshi, Reisin, Ricardo C., Shahrizaila, Nortina, Amino, Hiroshi, Antonini, Giovanni, Attarian, Shahram, Balducci, Claudia, Barroso, Fabio, Bertorini, Tulio, Binda, Davide, Brannagan, Thomas H., Buermann, Jan, Casasnovas, Carlos, Cavaletti, Guido, Chao, Chi-Chao, Dimachkie, Mazen M., Fulgenzi, Ernesto A., Galassi, Giuliana, Gutierrez, Gerardo Gutierrez, Harbo, Thomas, Hartung, Hans-Peter, Hsieh, Sung-Tsang, Kiers, Lynette, Lehmann, Helmar C., Manganelli, Fiore, Marfia, Girolama A., Mataluni, Giorgia, Pardo, Julio, Pereon, Yann, Rajabally, Yusuf A., Santoro, Lucio, Sekiguchi, Yukari, Stein, Beth, Stettner, Mark, Uncini, Antonino, Verboon, Christine, Verhamme, Camiel, Vytopil, Michal, Waheed, Waqar, Wang, Min, Zivkovic, Sasha, Jacobs, Bart C., and Cornblath, David R.

Abstract

Objective: To describe the heterogeneity of electrodiagnostic (EDx) studies in Guillain-Barre syndrome (GBS) patients collected as part of the International GBS Outcome Study (IGOS).Methods: Prospectively collected clinical and EDx data were available in 957 IGOS patients from 115 centers. Only the first EDx study was included in the current analysis.Results: Median timing of the EDx study was 7 days (interquartile range 4-11) from symptom onset. Methodology varied between centers, countries and regions. Reference values from the responding 103 centers were derived locally in 49%, from publications in 37% and from a combination of these in the remaining 15%. Amplitude measurement in the EDx studies (baseline-to-peak or peak-to-peak) differed from the way this was done in the reference values, in 22% of motor and 39% of sensory conduction. There was marked variability in both motor and sensory reference values, although only a few outliers accounted for this.Conclusions: Our study showed extensive variation in the clinical practice of EDx in GBS patients among IGOS centers across the regions. Significance: Besides EDx variation in GBS patients participating in IGOS, this diversity is likely to be present in other neuromuscular disorders and centers. This underlines the need for standardization of EDx in future multinational GBS studies.(c) 2022 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

Published
2022

8. Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study:Differences in methods and reference values

Author

Arends, Samuel, Drenthen, Judith, van den Bergh, Peter, Franssen, Hessel, Hadden, Robert D M, Islam, Badrul, Kuwabara, Satoshi, Reisin, Ricardo C, Shahrizaila, Nortina, Amino, Hiroshi, Antonini, Giovanni, Attarian, Shahram, Balducci, Claudia, Barroso, Fabio, Bertorini, Tulio, Binda, Davide, Brannagan, Thomas H, Buermann, Jan, Casasnovas, Carlos, Cavaletti, Guido, Chao, Chi-Chao, Dimachkie, Mazen M, Fulgenzi, Ernesto A, Galassi, Giuliana, Gutiérrez Gutiérrez, Gerardo, Harbo, Thomas, Hartung, Hans-Peter, Hsieh, Sung-Tsang, Kiers, Lynette, Lehmann, Helmar C, Manganelli, Fiore, Marfia, Girolama A, Mataluni, Giorgia, Pardo, Julio, Péréon, Yann, Rajabally, Yusuf A, Santoro, Lucio, Sekiguchi, Yukari, Stein, Beth, Stettner, Mark, Uncini, Antonino, Verboon, Christine, Verhamme, Camiel, Vytopil, Michal, Waheed, Waqar, Wang, Min, Zivkovic, Sasha, Jacobs, Bart C, Cornblath, David R, Arends, Samuel, Drenthen, Judith, van den Bergh, Peter, Franssen, Hessel, Hadden, Robert D M, Islam, Badrul, Kuwabara, Satoshi, Reisin, Ricardo C, Shahrizaila, Nortina, Amino, Hiroshi, Antonini, Giovanni, Attarian, Shahram, Balducci, Claudia, Barroso, Fabio, Bertorini, Tulio, Binda, Davide, Brannagan, Thomas H, Buermann, Jan, Casasnovas, Carlos, Cavaletti, Guido, Chao, Chi-Chao, Dimachkie, Mazen M, Fulgenzi, Ernesto A, Galassi, Giuliana, Gutiérrez Gutiérrez, Gerardo, Harbo, Thomas, Hartung, Hans-Peter, Hsieh, Sung-Tsang, Kiers, Lynette, Lehmann, Helmar C, Manganelli, Fiore, Marfia, Girolama A, Mataluni, Giorgia, Pardo, Julio, Péréon, Yann, Rajabally, Yusuf A, Santoro, Lucio, Sekiguchi, Yukari, Stein, Beth, Stettner, Mark, Uncini, Antonino, Verboon, Christine, Verhamme, Camiel, Vytopil, Michal, Waheed, Waqar, Wang, Min, Zivkovic, Sasha, Jacobs, Bart C, and Cornblath, David R

Abstract

OBJECTIVE: To describe the heterogeneity of electrodiagnostic (EDx) studies in Guillain-Barré syndrome (GBS) patients collected as part of the International GBS Outcome Study (IGOS).METHODS: Prospectively collected clinical and EDx data were available in 957 IGOS patients from 115 centers. Only the first EDx study was included in the current analysis.RESULTS: Median timing of the EDx study was 7 days (interquartile range 4-11) from symptom onset. Methodology varied between centers, countries and regions. Reference values from the responding 103 centers were derived locally in 49%, from publications in 37% and from a combination of these in the remaining 15%. Amplitude measurement in the EDx studies (baseline-to-peak or peak-to-peak) differed from the way this was done in the reference values, in 22% of motor and 39% of sensory conduction. There was marked variability in both motor and sensory reference values, although only a few outliers accounted for this.CONCLUSIONS: Our study showed extensive variation in the clinical practice of EDx in GBS patients among IGOS centers across the regions.SIGNIFICANCE: Besides EDx variation in GBS patients participating in IGOS, this diversity is likely to be present in other neuromuscular disorders and centers. This underlines the need for standardization of EDx in future multinational GBS studies.

Published
2022

9. Consenso argentino sobre enfermedad de Pompe de inicio tardío

Author

Dubrovsky, Alberto, Fulgenzi, Ernesto, De Vito, Eduardo L, Barroso, Fabio, Berardo, Andrés, Bettini, Mariela, Binaghi, Daniela, Calabrese, Esteban, Carlés, Daniel, Chaves, Marcelo, Chloca, Fernando, Conti, Eugenia, Corderi, Jose, Di Gennaro, Federico, Ferradás, Nélida, Jáuregui, Agustín, Lubieniecki, Fabiana, Mazia, Claudio, Medina, Marta, Pirra, Laura, Politei, Juan, Reisin, Ricardo, Rosa, Alberto L, Rugiero, Marcelo, Salutto, Valeria, Schenone, Andrea, Sussini, Mario, and Taratuto, Ana L

Subjects
Enfermedad de Pompe, Consensus, Consenso, Glucogenosis tipo II, Alfa-glucosidase, Type II glycogenosis, Enzyme replacement therapy, Acid lisosomal maltase deficiency, Alfa-glucosidasa ácida, Deficiencia de maltasa ácida lisosomal, Pompe’s disease, Terapia de reemplazo enzimático
Abstract

La enfermedad de Pompe (EP) es un desorden metabólico autosómico recesivo infrecuente, producido por la ausencia o deficiencia de la enzima lisosomal alfa-glucosidasa ácida en los tejidos de los individuos afectados. Se considera enfermedad de Pompe de inicio tardío (EPIT) en aquellos individuos de más de un año de edad al comienzo de los síntomas. El objetivo del presente consenso es el de actualizar las pautas y recomendaciones para un correcto tratamiento de los pacientes con EPIT, tomando como referencia los lineamientos del Consenso Argentino para el diagnóstico, seguimiento y tratamiento de la enfermedad de Pompe publicado en el año 2013. Se organizó un consenso que reunió profesionales con experiencia en la EP en las áreas de clínica médica, diagnóstico de laboratorio, neuropatología, neumonología, nutrición, neurología, enfermedades metabólicas, enfermedades neuromusculares y rehabilitación. Se realizó una actualización de la bibliografía sobre EPIT, con especial atención en las publicaciones relevantes de los últimos cuatro años. Los términos finales del documento fueron consensuados por todo el grupo de trabajo. Cada participante proporcionó su declaración de conflicto de intereses. El resultado es una actualización del último Consenso Argentino para la EP, con particular enfoque en su forma de comienzo tardío. Tratándose de una afección infrecuente, en la que los datos disponibles son limitados, las presentes recomendaciones deben ser consideradas como opinión de expertos. Pompe’s disease (PD) is an infrequent metabolic autosomic recessive disorder produced by the lack or deficiency of the acid alpha-glucosidase lysosomal enzyme in tissues of involved individuals. Delayed-onset PD is considered whenever symptoms onset start after one year of age. We present an update of the recommendations for the management of delayed-onset PD, taking as reference the guidelines from the Argentine Consensus for diagnosis, treatment and follow-up of PD published in 2013. The present consensus gathered several experts in PD in the areas of internal medicine, laboratory diagnosis, neuropathology, pulmonology, nutrition, neurology, metabolic and neuromuscular disorders as well as rehabilitation to perform an update of the literature of delayed-onset PD, with special attention on relevant information published within the last 4 years. The entire working group approved the final version of the consensus. Each participant provided a declaration of conflict of interest. As a result, it is an update of the previous Argentine PD Consensus with focus on the delayed-onset presentation of the disease. Being such infrequent disorder, available data were rather limited and thus, the recommendations represent expert opinions.

Published
2018

11. Screening of the intronic expansion in the C9 orf72 gene and the ATXN2 mutation in Argentine patients diagnosed with Amyotrophic Lateral Sclerosis (P2.056)

Author

Tillard, Belén, primary, Cisneros, Elisa, additional, Marchesoni, Cintia, additional, Pardal, Ana, additional, Schottlaender, Lucía, additional, Houlden, Henry, additional, M, Shoai, additional, Fulgenzi, Ernesto, additional, Conti, Eugenia, additional, José, Di Pace, additional, Carnero, Edgar, additional, Perez Akly, Manuel, additional, Nogués, Martín, additional, Uchitel, Osvaldo, additional, de Ambrosi, Bruno, additional, Lautre, Andrea, additional, Barroso, Fabio Adrian, additional, Dubrovsky, Alberto, additional, Pirra, Laura, additional, Jauregui, Agustin, additional, Landriscina, Paula, additional, Rodriguez, Alejandro, additional, Goyeneche, Paula, additional, Mazia, Claudio, additional, Salutto, Valeria Lujan, additional, Nofal, Pedro, additional, Salazar, Zulma, additional, Brand, Patricio, additional, Surace, Ezequiel, additional, and Reisin, Ricardo, additional

Published
2015
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13. Multicenter Epidemiological Study of Amyotrophic Lateral Sclerosis in the City of Buenos Aires (P2.057)

Author

Manuel, Pérez Akly, primary, Albanese, Gustavo, additional, Barroso, Fabio Adrian, additional, Bendersky, Mariana, additional, Bettini, Mariela, additional, Di Egidio, Marianna, additional, Fulgenzi, Ernesto, additional, Fiorotto, Luís, additional, Gargiulo Monachelli, Gisella, additional, Jáuregui, Agustín, additional, Landriscina, Paula, additional, Mazia, Claudio, additional, Melcom, Mario, additional, Reisin, Ricardo, additional, Rey, Roberto, additional, Rodríguez, Gabriel, additional, Rugiero, Marcelo Francisco, additional, Salutto, Valeria Lujan, additional, and Tillard, Belén, additional

Published
2015
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14. Inmunoglobulina endovenosa en enfermedades neuromusculares. Guía para su utilización

Author

Figueredo, Alejandra, Altamirano, Lorena, Amores, Mirtha Graciela, Bertotti, Alicia Cristina, Cueto, Alicia, Díaz Livadiotis, Guillermo, Di Egidio, Mariana, Doumic, Javier, Dubrovsky, Alberto, Fulgenzi, Ernesto, Lautre, Andrea, Losavio, Adriana Silvia, Marchesone, Cintia, Martinez Alvarez, Mariana, Mazia, Claudio Gabriel, Melano, Raúl, Orellano, Anabel, Pagano, Miguel Angel, Pardal, Ana Maria, Pirra, Laura, Politei, Juan, Reisin, Ricardo, Rey, Roberto, Rodriguez, Gabriel, Rugiero, Marcelo, and Yorio, Alberto

Subjects
Medicina Básica, CIENCIAS MÉDICAS Y DE LA SALUD, Fisiología
Abstract

La Inmunoglobulina Endovenosa (IgEV) ha mostrado eficacia en varias enfermedades inmunomediadas del Sistema Nervioso Periférico. Los mecanismos postulados son: inhibir la producción de autoanticuerpos, neutralizarlos y aumentar su catabolismo, inducir bloqueo sobre monocitos y células T, interferir con el Complemento e interactuar con diversas citoquinas. La IgEV es elaborada a partir de la purificación y concentración del plasma de individuos sanos; aplicando diversas metodologías, como tratamiento a pH ácido con trazas de pepsina, cromatografía de intercambio iónico y precipitación con polietilenglicol, para eliminar los polímeros de alto peso molecular. Las entidades en las cuales se evaluó la IgEV más frecuentemente son: Neuropatías inmunomediadas Agudas (Síndrome Guillain-Barré y sus variedades: Síndrome de Miller-Fisher, Neuropatía Axonal Aguda Motora y Neuropatía Axonal Aguda Motora y Sensitiva) y Crónicas (Polineuropatía Inflamatoria Desmielinizante Crónica, Neuropatía Multifocal Motora, Neuropatía Desmielinizante Multifocal Sensitiva y Motora, Neuropatías Asociadas a Paraproteinemia y Neuropatías Atáxicas Crónicas Predominantemente Sensitivas), Enfermedades de la Unión Neuromuscular (Miastenia Gravis y Síndrome de Eaton-Lambert), Miopatías Inflamatorias (Dermatomiositis, Polimiositis y Miositis por Cuerpos de Inclusión) Ganglionopatías Sensitivas y Síndrome de Persona Rígida. La IgEV es fácilmente administrable y generalmente bien tolerada. Los efectos adversos raramente son serios, frecuentemente escalofríos, náuseas, cefalea, mialgias, fatiga y fiebre entre otros, controlables con tratamiento sintomático, y raramente falla renal, infartos miocárdicos, accidentes cerebrovasculares, reacción anafiláctica y meningitis aséptica. La IgEV se contraindica en hipersensibilidad a Inmunoglobulinas y en pacientes con déficit congénito de IgA. La dosis es de 2 g/kg, Clásicamente se distribuye a lo largo de 2-5 días con velocidad de infusión de 40-80 ml/hora. Fil: Figueredo, Alejandra. Sociedad Neurológica Argentina; Argentina Fil: Altamirano, Lorena. Sociedad Neurológica Argentina; Argentina Fil: Amores, Mirtha Graciela. Sociedad Neurológica Argentina; Argentina Fil: Bertotti, Alicia Cristina. Sociedad Neurológica Argentina; Argentina Fil: Cueto, Alicia. Sociedad Neurológica Argentina; Argentina Fil: Díaz Livadiotis, Guillermo. Sociedad Neurológica Argentina; Argentina Fil: Di Egidio, Mariana. Sociedad Neurológica Argentina; Argentina Fil: Doumic, Javier. Sociedad Neurológica Argentina; Argentina Fil: Dubrovsky, Alberto. Sociedad Neurológica Argentina; Argentina Fil: Fulgenzi, Ernesto. Sociedad Neurológica Argentina; Argentina Fil: Lautre, Andrea. Sociedad Neurológica Argentina; Argentina Fil: Losavio, Adriana Silvia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina Fil: Marchesone, Cintia. Sociedad Neurológica Argentina; Argentina Fil: Martinez Alvarez, Mariana. Sociedad Neurológica Argentina; Argentina Fil: Mazia, Claudio Gabriel. Sociedad Neurológica Argentina; Argentina Fil: Melano, Raúl. Sociedad Neurológica Argentina; Argentina Fil: Orellano, Anabel. Sociedad Neurológica Argentina; Argentina Fil: Pagano, Miguel Angel. Sociedad Neurológica Argentina; Argentina Fil: Pardal, Ana Maria. Sociedad Neurológica Argentina; Argentina Fil: Pirra, Laura. Sociedad Neurológica Argentina; Argentina Fil: Politei, Juan. Sociedad Neurológica Argentina; Argentina Fil: Reisin, Ricardo. Sociedad Neurológica Argentina; Argentina Fil: Rey, Roberto. Sociedad Neurológica Argentina; Argentina Fil: Rodriguez, Gabriel. Sociedad Neurológica Argentina; Argentina Fil: Rugiero, Marcelo. Sociedad Neurológica Argentina; Argentina Fil: Yorio, Alberto. Sociedad Neurológica Argentina; Argentina

Published
2006

16. NEURONOPATÍA SENSITIVA. SU RECONOCIMIENTO Y TRATAMIENTO TEMPRANO.

Author

ZUBERBUHLER, PAZ, YOUNG, PABLO, LEÓN CEJAS, LUCIANA V., FINN, BÁRBARA C., BRUETMAN, JULIO E., CALANDRA, CRISTIAN R., FULGENZI, ERNESTO, PÉREZ AKLY, MANUEL, RODRÍGUEZ, ALEJANDRO, PARDAL, ANA, and REISIN, RICARDO

Abstract

Copyright of Medicina (Buenos Aires) is the property of Medicina (Buenos Aires) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2015

17. [Neurosarcoidosis: Onset with involvement of multiple neurological sites].

Author

Zlotogwiazda II, Poropat CA, Armesto ME, Gantier DN, Álvarez S, Fulgenzi E, Masdeu M, Cuba A, and Mindlin PE

Subjects
Female, Pregnancy, Humans, Cough, Lung, Sarcoidosis diagnosis, Sarcoidosis drug therapy, Sarcoidosis complications, Central Nervous System Diseases diagnostic imaging, Central Nervous System Diseases drug therapy
Abstract

We present the case of a healthy young woman who consulted for left peripheral facial palsy associated with fever, dry cough, dyspnea, and asthenia of two weeks' evolution. Physical examination revealed hypoesthesia in left T6 to T12 dermatomes and bilateral galactorrhea. In the laboratory, she presented negative viral serology, elevated erythrocyte sedimentation rate, antinuclear antibody titers, prolactin and thyroid-stimulating hormone, with positive antiperoxidase antibodies. Computed tomography showed multiple bilateral cervical, mediastinal, and hilar adenopathies, without involvement of lung parenchyma. Cerebrospinal fluid culture was negative for common germs, mycobacteria, and Xpert MTB/RIF, and cytology did not show atypia. Contrast-enhanced magnetic resonance was performed on the brain without pathological findings and on the spine with alteration of the centromedullary signal from T6 to T9 of almost the entire thickness of the cord, with posterior enhancement with gadolinium. During hospitalization, she recovered sensitivity in the left trunk and did not repeat febrile or cough episodes. She was referred to another center for mediastinoscopy with lymph node biopsy revealing the presence of numerous non-caseating granulomas compatible with sarcoidosis. It was classified as probable neurosarcoidosis and started treatment with corticosteroids with improvement of the remaining neurological symptoms. A magnetic resonance was performed three months later where the signal alteration was limited from T7 to T8. Our objective is to highlight the florid neurological presentation that made it necessary to rule out other more frequent entities and the favorable evolution even before starting a first-line scheme of treatment.

Published
2023

18. [Argentine consensus on late-onset Pompe's disease].

Author

Dubrovsky A, Fulgenzi E, De Vito EL, Barroso F, Berardo A, Bettini M, Binaghi D, Calabrese E, Carlés D, Chaves M, Chloca F, Conti E, Corderi J, Di Gennaro F, Ferradás N, Jáuregui A, Lubieniecki F, Mazia C, Medina M, Pirra L, Politei J, Reisin R, Rosa AL, Rugiero M, Salutto V, Schenone A, Sussini M, and Taratuto AL

Subjects
Age of Onset, Argentina, Glycogen Storage Disease Type II complications, Humans, Glycogen Storage Disease Type II diagnosis, Glycogen Storage Disease Type II therapy
Abstract

Pompe's disease (PD) is an infrequent metabolic autosomic recessive disorder produced by the lack or deficiency of the acid alpha-glucosidase lysosomal enzyme in tissues of involved individuals. Delayed-onset PD is considered whenever symptoms onset start after one year of age. We present an update of the recommendations for the management of delayed-onset PD, taking as reference the guidelines from the Argentine Consensus for diagnosis, treatment and follow-up of PD published in 2013. The present consensus gathered several experts in PD in the areas of internal medicine, laboratory diagnosis, neuropathology, pulmonology, nutrition, neurology, metabolic and neuromuscular disorders as well as rehabilitation to perform an update of the literature of delayed-onset PD, with special attention on relevant information published within the last 4 years. The entire working group approved the final version of the consensus. Each participant provided a declaration of conflict of interest. As a result, it is an update of the previous Argentine PD Consensus with focus on the delayed-onset presentation of the disease. Being such infrequent disorder, available data were rather limited and thus, the recommendations represent expert opinions.

Published
2018

19. [Sensory neuronopathy. Its recognition and early treatment].

Author

Zuberbuhler P, Young P, León Cejas LV, Finn BC, Bruetman JE, Calandra CR, Fulgenzi E, Pérez Akly M, Rodríguez A, Pardal A, and Reisin R

Subjects
Adult, Aged, Aged, 80 and over, Anti-Inflammatory Agents therapeutic use, Arthritis, Rheumatoid complications, Ataxia complications, Fatal Outcome, Female, Gait Ataxia diagnosis, Gait Ataxia drug therapy, Humans, Immunoglobulins, Intravenous therapeutic use, Immunologic Factors therapeutic use, Lupus Erythematosus, Systemic complications, Male, Methylprednisolone therapeutic use, Middle Aged, Paresthesia diagnosis, Paresthesia drug therapy, Retrospective Studies, Sjogren's Syndrome complications, Ataxia diagnosis, Ataxia drug therapy, Carcinoma, Squamous Cell complications, Lung Neoplasms complications, Small Cell Lung Carcinoma complications, Time-to-Treatment
Abstract

Sensory neuronopathies or ganglionopathies, or dorsal root ganglion disorders, represent a subgroup of peripheral nervous system diseases, frequently associated with dysinmune or neoplastic disorders and with toxic agents. A degeneration of both central and peripheral sensory proyections is present. Patients typically show early ataxia, loss of deep tendon reflexes and positive sensory symptoms present both in proximal and distal sites of the body. We retrospectively studied 10 cases with a final diagnosis of sensory neuronopathy. Sensory neuropathy was the presenting symptom and the course was subacute in all cases. Paresthesias in upper limbs were a predominant manifestation (100%). Other manifestations included: hypoesthesia (10/10), gait ataxia (8/10), autonomic symptoms (3/10) and perioral paresthesias (3/10). Electrophysiology showed sensory axonal neuronal pattern, with normal motor responses. Final diagnosis was acquired sensory neuronopathy in all patients, associated with Sjögren's syndrome in 2, with lupus erythematosus in 1, with rheumatoid arthritis in 1, with a cancer in 2 (paraneoplastic) and idiopathic in 4. In paraneoplastic cases, the tumor was small cell lung cancer in 1 (with positive anti-Hu antibodies), and epidermoid lung cancer in the other. Eight patients were treated with immunotherapy, high dose intravenous methylprednisolone and/or intravenous immunoglobulin; with poor response in 4 cases, neurologic improvement in 5, and without any change in 1 patient. The present work shows the typical clinical and electrophysiological pattern of subacute sensory neuronopathy, and the relevance of early treatment.

Published
2015

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