Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.

Background: Fabry disease (FD) is an underdiagnosed cause of stroke in youngadults, but the frequency of this association is largely unknown. We estimatedthe prevalence of FD in a nationwide cohort of young adults who had stroke andtransient ischemic attack (TIA) in Argentina. Methods: This was a prospective, multicenterstudy of stroke and FD in young adults (18-55 years) conducted in Argentinabetween 2011 and 2015. Patients were enrolled if they had had a TIA or an ischemicor hemorrhagic stroke within the previous 180 days. FD was diagnosed bymeasuring α-galactosidase A activity (males) and through genetic studies (females).Results: We enrolled 311 patients (54% men, mean age: 41 years). Ischemic eventsoccurred in 89% of patients (80% infarcts, 9% TIA) and hemorrhagic strokes in11%. One female (.3% of the total group, 1% of the cryptogenic ischemic strokes)had the pathogenic mutation c.888G>A/p.Met296Ile /Exon 6 on the GAL gene.Her only other manifestation of FD was angiokeratoma. Eighteen females hadnonpathogenic intronic variations: c.-10C>T, c.-12G>A, or both. Two patients hadthe nonpathogenic mutation D313Y, while a third had the likely benign mutationS126G. Conclusions: FD was identified in 1 patient (.3%) in this first LatinAmerican study. The patient presented with a late-onset oligo-symptomatic formof the disease. A large number of nonpathogenic mutations were present in ourcohort, and it is essential that they not be mistaken for pathogenic mutations to avoid unnecessary enzyme replacement treatment.Fil: Reisin, Ricardo C.. Hospital Británico de Buenos Aires; ArgentinaFil: Mazziotti, Julieta. Hospital Británico de Buenos Aires; ArgentinaFil: León Cejas, Luciana. Hospital Británico de Buenos Aires; ArgentinaFil: Zinnerman, Alberto. Hospital Posadas; ArgentinaFil: Bonardo, Pablo. Hospital Británico de Buenos Aires; ArgentinaFil: Fernandez Pardal, M.. Hospital Británico de Buenos Aires; ArgentinaFil: Martinez, A.. Hospital Posadas; ArgentinaFil: Riccio, Patricia. Fundación Favaloro; ArgentinaFil: Ameriso, Sebastián. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaFil: Bendersky, Eduardo. INAREPS; ArgentinaFil: Nofal, Pedro. Sanatorio Parque Tucumán; ArgentinaFil: Cairola, Patricia. CEMIC; ArgentinaFil: Jure, Lorena. Sanatorio Parque Rosario; ArgentinaFil: Sotelo, Andrea. Sanatorio Adventista del Plata; ArgentinaFil: Rozenfeld, Paula Adriana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; ArgentinaFil: Ceci, Romina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; ArgentinaFil: Casas Parera, Ignacio Faustino. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Oncología "Ángel H. Roffo"; ArgentinaFil: Sánchez Luceros, Analía Gabriela. Academia de Medicina; Argentin

Prevalence of Fabry Disease in Young Patients with Stroke in Argentina

Background Fabry disease (FD) is an underdiagnosed cause of stroke in young adults, but the frequency of this association is largely unknown. We estimated the prevalence of FD in a nationwide cohort of young adults who had stroke and transient ischemic attack (TIA) in Argentina. Methods This was a prospective, multicenter study of stroke and FD in young adults (18-55 years) conducted in Argentina between 2011 and 2015. Patients were enrolled if they had had a TIA or an ischemic or hemorrhagic stroke within the previous 180 days. FD was diagnosed by measuring α-galactosidase A activity (males) and through genetic studies (females). Results We enrolled 311 patients (54% men, mean age: 41 years). Ischemic events occurred in 89% of patients (80% infarcts, 9% TIA) and hemorrhagic strokes in 11%. One female (.3% of the total group, 1% of the cryptogenic ischemic strokes) had the pathogenic mutation c.888G>A/p.Met296Ile /Exon 6 on the GAL gene. Her only other manifestation of FD was angiokeratoma. Eighteen females had nonpathogenic intronic variations: c.-10C>T, c.-12G>A, or both. Two patients had the nonpathogenic mutation D313Y, while a third had the likely benign mutation S126G. Conclusions FD was identified in 1 patient (.3%) in this first Latin American study. The patient presented with a late-onset oligo-symptomatic form of the disease. A large number of nonpathogenic mutations were present in our cohort, and it is essential that they not be mistaken for pathogenic mutations to avoid unnecessary enzyme replacement treatment.Instituto de Estudios Inmunológicos y Fisiopatológico

AISYF: primer estudio nacional, prospectivo y multicéntrico de pacientes jóvenes con ataque cerebral en Argentina

Aproximadamente un 15% de todos los ataques cerebrovasculares afectan a pacientes jóvenes y su incidencia estaría en aumento. Existe escasa información sobre el ataque cerebral en esta población tanto en nuestro país como en Latinoamérica. El objetivo de nuestro estudio fue evaluar las características clínicas y los factores de riesgo de los adultos jóvenes con ictus en Argentina. Realizamos un estudio prospectivo y multicéntrico en adultos jóvenes (18-55 años) en Argentina, que presentaron un evento cerebrovascular dentro de los 180 días previos. Los subtipos de ictus se clasificaron según los criterios de TOAST. Se incluyeron un total de 311 pacientes (hombres 53.9%, edad media: 43,3 años). Los ataques cerebrovasculares isquémicos ocurrieron en el 91.8% (infartos cerebrales 82.6%, ataque isquémico transitorio 9.2%) y los eventos hemorrágicos correspondieron al 8.2%. Los factores de riesgo vascular más frecuentes (incluyendo los eventos isquémicos y hemorrágicos) fueron: hipertensión 120 (41%), tabaquismo 92 (31.4%), dislipidemia 81 (27.6%) y sobrepeso/obesidad: 74 (25.3%). Los subtipos de ictus isquémicos fueron: arteriopatía de gran vaso 12.3%, cardioembolismo 7.5%, oclusión de pequeña arteria 11.5%, otra etiología definida 27.1% y etiología indeterminada 41.6%. Los factores de riesgo vascular son muy frecuentes en los adultos jóvenes con ictus. Nuestros hallazgos subrayan que se requieren estrategias urgentes para la prevención primaria y secundaria del ictus en este grupo particular de pacientes en nuestro país.Up to 15% of all strokes affect young patients and the incidence of ischemic stroke in this population is rising. Nevertheless, there is limited information of cerebrovascular events in this population both in our country and in Latin America. The aim of our study was to evaluate the clinical characteristics and risk factors of young adults with stroke in Argentina. This is a prospective, multicenter study of stroke in young adults (18 - 55 years) in Argentina. Patients presenting with a cerebrovascular event within 180 days were included. Stroke subtypes were classified according to TOAST criteria. A total number of 311 patients were enrolled (men 53.9%, mean age: 43.3 years). Ischemic strokes occurred in 91.8% (brain infarcts 82.6%, transient ischemic attack 9.2%) and hemorrhagic strokes in 8.2%. The most frequent vascular risk factors (including ischemic and hemorrhagic strokes) were: hypertension 120 (41%), smoking 92 (31.4%), dyslipidemia 81 (27.6%) and, overweight/obesity: 74 (25.3%). Stroke subtypes were: large artery disease 12.3%, cardioembolism 7.5%, small artery occlusion 11.5%, other defined etiology 27.1%, and undetermined etiology 41.6%. Our study demonstrates that vascular risk factors are very frequent in young adults with stroke. Our findings underline that urgent strategies are required for primary and secondary stroke prevention in this group of patients.Fil: Bonardo, Pablo. Hospital Británico de Buenos Aires; ArgentinaFil: Leon Cejas, Luciana. Hospital Británico de Buenos Aires; ArgentinaFil: Mazziotti, Julieta. Hospital Británico de Buenos Aires; ArgentinaFil: Zinnerman, Alberto. Hospital Nacional Profesor Alejandro Posadas.; ArgentinaFil: Fernandez Pardal, Manuel. Hospital Británico de Buenos Aires; ArgentinaFil: Martinez, Alejandra. Hospital Nacional Profesor Alejandro Posadas.; ArgentinaFil: Riccio, Patricia. Fundación Favaloro; ArgentinaFil: Ameriso, Sebastian Francisco. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaFil: Bendersky, Eduardo Daniel. No especifíca;Fil: Nofal, Pedro. No especifíca;Fil: Cairola, Patricia. Gobierno de la Ciudad Autónoma de Buenos Aires. Hospital General de Agudos Carlos Durand; ArgentinaFil: Jure, Lorena. No especifíca;Fil: Sotelo, Andrea. No especifíca;Fil: Casas Parera, Ignacio Faustino. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Oncología "Ángel H. Roffo"; ArgentinaFil: Sánchez Luceros, Analía Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; ArgentinaFil: Sposato, Luciano A.. Academia Nacional de Ciencias de Buenos Aires; ArgentinaFil: Reisin, Ricardo C.. Hospital Británico de Buenos Aires; Argentin

ENCOMS: Argentinian survey in cost of illness and unmet needs in multiple sclerosis

The objective of the study was to assess the cost of multiple sclerosis (MS) patients in Argentina categorized by disease severity using a societal perspective. Method: Cross-sectional study including MS patients from 21 MS centers in 12 cities of Argentina. Patients were stratified by disease severity using the expanded disability status scale (EDSS) (group 1 with EDSS score between 0 and 3; group 2 with EDSS >3 and 3 and <7, and USD 50,712 (95%CI 47,825-62,104) for patients with EDSS ≥7. Conclusions: This is the first Argentine study evaluating the costs of MS considering disease severity