Argentine consensus on the diagnosis, monitoring and treatment of Pompe disease

Introducción: La enfermedad de Pompe (EP) es un desorden metabólico autosómico recesivo infrecuente que se produce por ausencia o deficiencia de la enzima lisosomal alfa-glucosidasa ácida en los tejidos de los individuos afectados. Objetivo: El objetivo del presente consenso es revisar las pautas actuales y brindar recomendaciones para un correcto diagnóstico, evaluación, manejo y tratamiento de los pacientes con EP. Métodos: Se organizó un consenso que reunió profesionales nacionales y un invitado extranjero con experiencia en la EP en las áreas de clínica médica, clínica pediátrica, diagnóstico de laboratorio, neuropatología, neumonología, nutrición, neurología, enfermedades metabólicas, enfermedades neuromusculares (ENM) y rehabilitación de pacientes con ENM. Se realizó una revisión bibliográfica de las publicaciones y los artículos relevantes sobre EP existentes hasta la fecha, en forma individual y en reuniones en pequeños grupos, organizados según el área de trabajo y la especialidad. Los términos finales del documento fueron consensuados por todo el grupo de trabajo. Cada participante proporcionó su declaración de conflicto de intereses. Conclusiones: Se elaboró el Consenso Argentino para la Enfermedad de Pompe, considerando aspectos de la fisiopatología, la clínica, el diagnóstico y el tratamiento de esta enfermedad. Tratándose de una afección infrecuente, en la que los datos disponibles son limitados, las presentes recomendaciones deben ser consideradas como opinión de expertos.Introduction: Pompe disease (PD) is a rare autosomal recessive metabolic disorder which is caused by the absence or deficiency of the acid alpha-glucosidase lysosomal enzyme in the tissues of affected individuals. Objective: The objective of this consensus is to review the current guidelines and provide recommendations for a correct diagnosis, evaluation, management, and treatment of patients with PD. Methods: We organized a consensus with a foreign guest and national professionals experienced in PD in the areas of clinic, pediatric clinic, laboratory diagnosis, neuropathology, neumonology, nutrition, neurology, metabolic diseases, neuromuscular diseases (NMD) and rehabilitation of patients with MND. We conducted a literature review of the existing publications and articles relevant to EP up to date, individually and in small group meetings organized by field of work and specialty. The final terms of the document were agreed upon by the entire working group. Each participant provided their declaration of conflict of interests. Conclusions: The Argentine Consensus for Pompe disease was developed, considering aspects of the pathophysiology, clinical manifestations, diagnosis and treatment of this disease. Being a rare condition for which the available data are limited, these recommendations should be considered as expert opinion.Fil: Dubrovsky, Alberto. Fundación Favaloro; ArgentinaFil: Fulgenzi, Ernesto. Unidad Asistencial Doctor César Milstein; ArgentinaFil: Amartino, Hernán. Hospital Universitario Austral. Servicio de Neurología Infantil; ArgentinaFil: Carlés, Daniel. Hospital Perrando. Servicio de Neumonología; ArgentinaFil: Corderi, José. Fundación Favaloro; ArgentinaFil: de Vito, Eduardo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Fainboim, Alejandro. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; ArgentinaFil: Ferradás, Nélida. International Life Sciences Institute ; ArgentinaFil: Guelbert, Norberto. Hospital de Niños de la Santísima Trinidad. Sección de Enfermedades Metabólicas; ArgentinaFil: Lubieniecki, Fabiana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Mazia, Claudio. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Mesa, Lilia. Fundación Favaloro; ArgentinaFil: Monges, Soledad. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Pesquero, Joao. Universidade de Sao Paulo; BrasilFil: Reisin, Ricardo. Hospital Británico de Buenos Aires; ArgentinaFil: Rugiero, Marcelo. Hospital Italiano; ArgentinaFil: Schenone, Andrea. Fundación para el Estudio de Enfermedades Neurometabólicas; ArgentinaFil: Szlago, Marina. Fundación para el Estudio de Enfermedades Neurometabólicas; ArgentinaFil: Taratuto, Ana Lía. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaFil: Zgaga, Marisa. Instituto de Lucha Antipoliomielítica y Rehabilitación del Lisiado; Argentina. Hospital Escuela Eva Perón. Servicio de Rehabilitación; Argentin

Multicentric epidemiological study in amyotrophic lateral sclerosis in the Autonomous City of Buenos Aires

Introduction: Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease of unknown cause, characterized by the simultaneous involvement of the upper and lower motor neurons. Epidemiological studies have estimated its annual incidence between 0.31 and 3.2 and its prevalence between 0.8 and 8.5 cases per 100,000 inhabitants. The epidemiological information in our country is limited to specialized centers. The present study presents the results of an epidemiological study in ELA performed in the Autonomous City of Buenos Aires (CABA). Methods: A multicentric retrospective study was conducted. Patients with defined and probable ALS according to the El Escorial Criteria, evaluated between January 1, 2012 and December 31, 2013, who lived in the CABA at the onset of symptoms, were included. The calculation of the incidence was based on the 2010 census. Results: We included 103 patients (55 men), with a mean age of 64 years. The onset of symptoms was in the lower limbs at 39%, upper extremities at 25% and bulbar at 26%. The initial symptom was weakness in 58% and dysarthria in 20%; 9% had dementia associated with ALS. The mean time to diagnosis was 14.5 months. Thirty new cases/patients were diagnosed between 01/06/2012 and 01/06/2013, with an incidence rate of 1.04 per 100,000 inhabitants. Conclusions: The epidemiological characteristics of ALS in CABA are similar to those reported in the universal literature. Further studies are needed to determine if these findings are applicable to the rest of the Argentine population.Introduction: Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease of unknown cause, characterized by the simultaneous involvement of the upper and lower motor neurons. Epidemiological studies have estimated its annual incidence between 0.31 and 3.2 and its prevalence between 0.8 and 8.5 cases per 100,000 inhabitants. The epidemiological information in our country is limited to specialized centers. The present study presents the results of an epidemiological study in ELA performed in the Autonomous City of Buenos Aires (CABA). Methods: A multicentric retrospective study was conducted. Patients with defined and probable ALS according to the El Escorial Criteria, evaluated between January 1, 2012 and December 31, 2013, who lived in the CABA at the onset of symptoms, were included. The calculation of the incidence was based on the 2010 census. Results: We included 103 patients (55 men), with a mean age of 64 years. The onset of symptoms was in the lower limbs at 39%, upper extremities at 25% and bulbar at 26%. The initial symptom was weakness in 58% and dysarthria in 20%; 9% had dementia associated with ALS. The mean time to diagnosis was 14.5 months. Thirty new cases/patients were diagnosed between 01/06/2012 and 01/06/2013, with an incidence rate of 1.04 per 100,000 inhabitants. Conclusions: The epidemiological characteristics of ALS in CABA are similar to those reported in the universal literature. Further studies are needed to determine if these findings are applicable to the rest of the Argentine population.Fil: Pérez Akly, Manuel. Sociedad Neurológica; ArgentinaFil: Schiava, Marianela. Unidad Asistencial Doctor César Milstein; ArgentinaFil: Melcom, Mario. Fundación para la Investigación en Neuroepidemiología; ArgentinaFil: Rodríguez, Gabriel. Sociedad Neurológica; ArgentinaFil: Gargiulo Monachelli, Gisella Mariana. Sociedad Neurológica; ArgentinaFil: Bettini, Mariela. Sociedad Neurológica; ArgentinaFil: Reisin, Ricardo. Sociedad Neurológica; ArgentinaFil: Bendersky, Mariana. Sociedad Neurológica; ArgentinaFil: Barroso, Fabio. Sociedad Neurológica; ArgentinaFil: Brand, Patricio. Fundación para la Lucha Contra las Enfermedades Neurológicas de la Infancia. Instituto de Investigaciones Neurológicas "Raúl Carrea"; ArgentinaFil: de Ambrosi, Bruno. Sociedad Neurológica; ArgentinaFil: Di Egidio, Marianna. Sociedad Neurológica; ArgentinaFil: Fiorotto, Luis. Sociedad Neurológica; ArgentinaFil: Jáuregui, Agustín. Sociedad Neurológica; ArgentinaFil: Landriscina, Paula. Sociedad Neurológica; ArgentinaFil: Marchesoni, Cintia. Sociedad Neurológica; ArgentinaFil: Mazia, Claudio. Sociedad Neurológica; ArgentinaFil: Rey, Roberto. Sociedad Neurológica; ArgentinaFil: Rugiero, Marcelo. Sociedad Neurológica; ArgentinaFil: Salutto, Valeria Luján. Sociedad Neurológica; ArgentinaFil: Tillard, Belén. Sociedad Neurológica; ArgentinaFil: Fulgenzi, Ernesto. Sociedad Neurológica; Argentin

Inmunoglobulina endovenosa en enfermedades neuromusculares. Guía para su utilización

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; ArgentinaFil: Altamirano, Lorena. Sociedad Neurológica Argentina; ArgentinaFil: Amores, Mirtha Graciela. Sociedad Neurológica Argentina; ArgentinaFil: Bertotti, Alicia Cristina. Sociedad Neurológica Argentina; ArgentinaFil: Cueto, Alicia. Sociedad Neurológica Argentina; ArgentinaFil: Díaz Livadiotis, Guillermo. Sociedad Neurológica Argentina; ArgentinaFil: Di Egidio, Mariana. Sociedad Neurológica Argentina; ArgentinaFil: Doumic, Javier. Sociedad Neurológica Argentina; ArgentinaFil: Dubrovsky, Alberto. Sociedad Neurológica Argentina; ArgentinaFil: Fulgenzi, Ernesto. Sociedad Neurológica Argentina; ArgentinaFil: Lautre, Andrea. Sociedad Neurológica Argentina; ArgentinaFil: 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; ArgentinaFil: Marchesone, Cintia. Sociedad Neurológica Argentina; ArgentinaFil: Martinez Alvarez, Mariana. Sociedad Neurológica Argentina; ArgentinaFil: Mazia, Claudio Gabriel. Sociedad Neurológica Argentina; ArgentinaFil: Melano, Raúl. Sociedad Neurológica Argentina; ArgentinaFil: Orellano, Anabel. Sociedad Neurológica Argentina; ArgentinaFil: Pagano, Miguel Angel. Sociedad Neurológica Argentina; ArgentinaFil: Pardal, Ana Maria. Sociedad Neurológica Argentina; ArgentinaFil: Pirra, Laura. Sociedad Neurológica Argentina; ArgentinaFil: Politei, Juan. Sociedad Neurológica Argentina; ArgentinaFil: Reisin, Ricardo. Sociedad Neurológica Argentina; ArgentinaFil: Rey, Roberto. Sociedad Neurológica Argentina; ArgentinaFil: Rodriguez, Gabriel. Sociedad Neurológica Argentina; ArgentinaFil: Rugiero, Marcelo. Sociedad Neurológica Argentina; ArgentinaFil: Yorio, Alberto. Sociedad Neurológica Argentina; Argentin

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

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

Argentine consensus on late-onset Pompe's disease

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 opinion

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

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

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

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

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

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