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Dive into the research topics where Marcelo Rugiero is active.

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Featured researches published by Marcelo Rugiero.


Neurology | 2002

Insomnia associated with thalamic involvement in E200K Creutzfeldt–Jakob disease

A L Taratuto; Pedro Piccardo; E G Reich; Shu G. Chen; Gustavo Sevlever; Marcelo Schultz; A A Luzzi; Marcelo Rugiero; Gonçalo R. Abecasis; M Endelman; A M Garcia; Sabina Capellari; Z Xie; Elio Lugaresi; Pierluigi Gambetti; Stephen R. Dlouhy; B. Ghetti

BackgroundInsomnia with predominant thalamic involvement and minor cortical and cerebellar pathologic changes is not characteristic of familial Creutzfeldt–Jakob disease (CJD) but is a hallmark of fatal familial insomnia. ObjectiveTo report a 53-year-old woman with intractable insomnia as her initial symptom of disease. MethodsThe authors characterized clinical, pathologic, and molecular features of the disease using EEG, polysomnography, neurohistology, Western blotting, protein sequencing, and prion protein (PrP) gene (PRNP) analysis. ResultsThe patient developed dysgraphia, dysarthria, bulimia, myoclonus, memory loss, visual hallucinations, and opisthotonos, as well as pyramidal, extrapyramidal, and cerebellar signs. Polysomnographic studies showed an absence of stages 3 and 4, and REM. She died 8 months after onset. On neuropathologic examination, there was major thalamic involvement characterized by neuronal loss, spongiform changes, and prominent gliosis. The inferior olivary nuclei exhibited chromatolysis, neuronal loss, and gliosis. Spongiform changes were mild in the neocortex and not evident in the cerebellum. PrP immunopositivity was present in these areas as well as in the thalamus. PRNP analysis showed the haplotype E200K-129M. Western blot analysis showed the presence of proteinase K (PK)–resistant PrP (PrPsc) with the nonglycosylated isoform of approximately 21 kd, corresponding in size to that of type 1 PrPsc. N-terminal protein sequencing demonstrated PK cleavage sites at glycine (G) 82 and G78, as previously reported in CJD with the E200K-129 M haplotype. ConclusionsInsomnia may be a prominent early symptom in cases of CJD linked to the E200K-129M haplotype in which the thalamus is severely affected.


Amyotrophic Lateral Sclerosis | 2013

Incidence and prevalence of amyotrophic lateral sclerosis in an HMO of Buenos Aires, Argentina

Mariela Bettini; Jimena Vicens; Diego Giunta; Marcelo Rugiero; Edgardo Cristiano

Abstract The incidence of amyotrophic lateral sclerosis (ALS) ranges from 1.7 to 2.3 per 100,000 persons worldwide. Few epidemiological studies have been published in Latin America. The aim of this study was to estimate the incidence and prevalence of ALS in an HMO (Health Maintenance Organization) of Buenos Aires, capital city of Argentina. The population studied was affiliates of the Italian Hospital Medical Care Program, whose distribution across age and gender strata is similar to the population of Buenos Aires. Cases were detected from 1 January 2003 to 31 December 2010. Incidence density (ID) and prevalence for ALS were estimated for the whole period and at 31 December 2010, respectively. During the seven-year study period, the crude ID estimated was 3.17 per 100,000 person-years (95% CI 2.24–4.48) and the age-adjusted ID for the Buenos Aires population was 2.23 per 100,000 person-years (95% CI 1.45–3.01). Point prevalence at 31 December 2010 was 8.86 per 100,000 persons (95% CI 4.05–13.68). Mean age at diagnosis was 72.29 years (SD 8.5). In conclusion, estimated age-adjusted ID and prevalence of ALS were similar to the incidence and prevalence rates found in other geographical areas.


Neuroepidemiology | 2017

Incidence of Autoimmune Myasthenia Gravis in a Health Maintenance Organization in Buenos Aires, Argentina

Mariela Bettini; Marcelo Chaves; Edgardo Cristiano; Vanina Pagotto; Lucia Perez; Diego Giunta; Marcelo Rugiero

Background: Different epidemiological studies, especially in Europe, have estimated the incidence density of myasthenia gravis (MG) to range between 1.7 and 21.3/1,000,000/person-year; however, data from regions such as Latin America are scarce. This study is aimed at estimating the incidence and prevalence of acquired MG in Buenos Aires, Argentina. Methods: The study population comprised of affiliates of the Italian Hospital Medical Care Program, a prepaid health maintenance organization located in Buenos Aires. The evaluation method for case detection included a retrospective search from January 1, 2006, through December 31, 2012. Results: Of the 60 cases identified, 36 (60%) were females. The median age at diagnosis was 69 years (IQR 51.5-79). The mean age at diagnosis was 63.3 years (SD ±20). A total of 28 patients (46.7%) had generalized MG and 32 had ocular MG (53.3%). Thirty five patients (58.3%) had acetylcholine receptor antibodies and 2 (3.3%) had muscle-specific receptor tyrosine kinase antibodies. The crude incidence density (ID) of MG was 61.33 per 1,000,000 person-years (95% CI 47.62-79.99). The adjusted ID for the Argentinean population was 38.8 per 1,000,000 person-years (95% CI 27.09-50.51) and for the Buenos Aires population was 47.49 (95% CI 34.73-60.25). Conclusions: The results obtained are similar to those published for other geographical areas.


Journal of Neuroimmunology | 2016

Immune-mediated rippling muscle disease and myasthenia gravis

Mariela Bettini; Hernan Gonorazky; Marcelo Chaves; E. Fulgenzi; Alejandra Figueredo; Silvia Christiansen; Edgardo Cristiano; Enrico Bertini; Marcelo Rugiero

Cases of acquired rippling muscle disease in association with myasthenia gravis have been reported. We present three patients with iRMD (immune-mediated rippling muscle disease) and AChR-antibody positive myasthenia gravis. None of them had thymus pathology. They presented exercise-induced muscle rippling combined with generalized myasthenia gravis. One of them had muscle biopsy showing a myopathic pattern and a patchy immunostaining with caveolin antibodies. They were successfully treated steroids and azathioprine. The immune nature of this association is supported by the response to immunotherapies and the positivity of AChR-antibodies.


Amyloid | 2017

Transthyretin-related hereditary amyloidosis in an Argentinian family with TTR Tyr114Cys mutation

María Adela Aguirre; Elsa Nucifora; Marcelo Rugiero; Patricia Sorroche; María Soledad Saez; Diego Giunta; María Lourdes Posadas-Martínez; Bruno Rafael Boietti

Transthyretin-related hereditary amyloidosis is an autosomal dominant inherited disease caused for mutations in the transthyretin (TTR) gene. Corresponding to the various transthyretin gene mutations and a wide range of geographical distribution, this disorder presents diverse characteristics in genotype-phenotype correlation. Familial amyloid polyneuropathy (FAP) is the more common clinical presentation and the Val30Met is its more frequent mutation described [1].


Neurología Argentina | 2011

Miositis por cuerpos de inclusión: ¿una enfermedad subdiagnosticada?

Marcelo Rugiero; Mariela Bettini

Resumen La miositis por cuerpos de inclusion esporadica (MCIe) es una de las cuatro miopatias inflamatorias mayores junto con la dematomiositis (DM), la polimiositis (PM) y la miopatia necrotizante. Es una miopatia lentamente progresiva que afecta a la musculatura proximal y distal y presenta rasgos histopatologicos distintivos, como hallazgos inflamatorios autoinmunes junto con degenerativos, como la presencia de vacuolas, inclusiones filamentosas y acumulaciones de proteinas con contenido amiloide. Representa al 30% de las miopatias inflamatorias, y afecta principalmente a mayores de 50 anos. Produce debilidad y atrofia de los musculos proximales y distales, comprometiendo casi selectivamente los cuadriceps y los flexores profundos de los dedos de la mano. El diagnostico clinico de la MCIe se confirma por biopsia muscular y es ayudado por la electromiografia (EMG) y el dosaje de CPK. Los hallazgos histologicos “mayores” son: infiltrado linfocitico multifocal que invade fibras no necroticas, vacuolas en celulas no invadidas por linfocitos y deposito de amiloide Congo-rojo positivo. La MCIe es una enfermedad compleja cuyos mecanismos fisiopatologicos aun no se conocen con claridad; uno es inmunomediado, por citotoxicidad mediada por linfocitos T, y el otro es un proceso no inmune, caracterizado por vacuolizacion y acumulacion intracelular de contenido amiloideo probablemente secundario a stress relacionado con el complejo mayor de histocompatibilidad (CMH). Mas alla del componente inmune involucrado, esta enfermedad es resistente a las inmunoterapias, se han realizado ensayos con distintos farmacos, pero la efectividad de estas terapias y sus efectos adversos requieren posterior evaluacion.


Medicina-buenos Aires | 2016

Presentaciones de polineuropatía amiloidótica familiar asociada a transtiretina en la Argentina

Marcelo Chaves; Mariela Bettini; Sebastián Marciano; Soledad Sáez; Edgardo Cristiano; Marcelo Rugiero


Neurología Argentina | 2014

Consenso argentino para el diagnóstico, seguimiento y tratamiento de la enfermedad de Pompe

Alberto Dubrovsky; E. Fulgenzi; Hernán Amartino; Daniel Carlés; Jose Corderi; Eduardo L. De Vito; Alejandro Fainboim; Nélida Ferradás; Norberto Guelbert; Fabiana Lubieniecki; Claudio Mazia; Lilia Mesa; Soledad Monges; João Bosco Pesquero; Ricardo Reisin; Marcelo Rugiero; Andrea Schenone; Marina Szlago; A.L. Taratuto; Marisa Zgaga


Arquivos De Neuro-psiquiatria | 2017

Usefulness of diffusion tensor imaging in amyotrophic lateral sclerosis: potential biomarker and association with the cognitive profile

Marcelo Chaves; Mariela Bettini; Maria Cecilia Fernandez; Maria Jose Garcia Basalo; Juan Ignacio Rojas; C. Besada; Edgardo Cristiano; A. Golimstok; Marcelo Rugiero


Neurología Argentina | 2018

Panorama actual de las enfermedades neuromusculares

Marcelo Rugiero

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Mariela Bettini

Hospital Italiano de Buenos Aires

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Edgardo Cristiano

Hospital Italiano de Buenos Aires

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Marcelo Chaves

Hospital Italiano de Buenos Aires

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Claudio Mazia

University of Buenos Aires

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Hernan Gonorazky

Hospital Italiano de Buenos Aires

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Silvia Christiansen

Hospital Italiano de Buenos Aires

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Alberto Dubrovsky

Spanish National Research Council

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Diego Giunta

Hospital Italiano de Buenos Aires

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