Post-intervention Status in Patients With Refractory Myasthenia Gravis Treated With Eculizumab During REGAIN and Its Open-Label Extension

OBJECTIVE: To evaluate whether eculizumab helps patients with anti-acetylcholine receptor-positive (AChR+) refractory generalized myasthenia gravis (gMG) achieve the Myasthenia Gravis Foundation of America (MGFA) post-intervention status of minimal manifestations (MM), we assessed patients' status throughout REGAIN (Safety and Efficacy of Eculizumab in AChR+ Refractory Generalized Myasthenia Gravis) and its open-label extension. METHODS: Patients who completed the REGAIN randomized controlled trial and continued into the open-label extension were included in this tertiary endpoint analysis. Patients were assessed for the MGFA post-intervention status of improved, unchanged, worse, MM, and pharmacologic remission at defined time points during REGAIN and through week 130 of the open-label study. RESULTS: A total of 117 patients completed REGAIN and continued into the open-label study (eculizumab/eculizumab: 56; placebo/eculizumab: 61). At week 26 of REGAIN, more eculizumab-treated patients than placebo-treated patients achieved a status of improved (60.7% vs 41.7%) or MM (25.0% vs 13.3%; common OR: 2.3; 95% CI: 1.1-4.5). After 130 weeks of eculizumab treatment, 88.0% of patients achieved improved status and 57.3% of patients achieved MM status. The safety profile of eculizumab was consistent with its known profile and no new safety signals were detected. CONCLUSION: Eculizumab led to rapid and sustained achievement of MM in patients with AChR+ refractory gMG. These findings support the use of eculizumab in this previously difficult-to-treat patient population. CLINICALTRIALSGOV IDENTIFIER: REGAIN, NCT01997229; REGAIN open-label extension, NCT02301624. CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that, after 26 weeks of eculizumab treatment, 25.0% of adults with AChR+ refractory gMG achieved MM, compared with 13.3% who received placebo

Minimal Symptom Expression' in Patients With Acetylcholine Receptor Antibody-Positive Refractory Generalized Myasthenia Gravis Treated With Eculizumab

The efficacy and tolerability of eculizumab were assessed in REGAIN, a 26-week, phase 3, randomized, double-blind, placebo-controlled study in anti-acetylcholine receptor antibody-positive (AChR+) refractory generalized myasthenia gravis (gMG), and its open-label extension

Pre-pandemic melatonin treatment for sleep disorders and COVID-19 infection: a retrospective cross-sectional study

Resumen: La melatonina es una medicación segura que tiene múltiples usos en medicina del sueño para el tratamiento de insomnios, diferentes alteraciones del ritmo circadiano y trastorno del comportamiento durante el sueño REM. Dado que durante la pandemia por COVID 19 se propusieron sus propiedades antiinflamatorias como coadyuvante, nuestro objetivo fue evaluar los antecedentes de infección por COVID-19 y requerimiento de internación hospitalaria en un grupo de pacientes adultos tratados previamente al inicio de la pandemia con melatonina por diversos trastornos del sueño. Material y métodos: Estudio de corte transversal, retrospectivo. Se analizaron datos de una población cerrada de un hospital universitario de pacientes adultos tratados con melatonina por diversos trastornos del sueño, hasta el inicio de la pandemia. Se analizaron variables demográficas, variables relacionadas con melatonina: dosis indicada, tiempo de tratamiento. Se los reevaluó durante el período de pandemia, por tele-consulta programada o telefónicamente, sobre diagnóstico, requerimiento de internación, variables relacionadas a infección por COVID 19 en forma previa a vacunación específica. Se describieron a las variables categóricas con frecuencias relativas y absolutas. Resultados: N=110 pacientes. Rango de edad= 40-96 años (media= 71 años ± 9,9), adultos mayores >65 años: N =87 (79,1%). Se registró infección por COVID 19 en 15 pacientes (13,5%) con requerimiento de internación en 5 de los infectados, sólo uno de ellos con neumonía grave. No se registraron óbitos por causa de COVID 19. No hubo diferencias entre infectados vs. no infectados en edad (p=0,74), índice de masa corporal (p=0,65) o dosis de melatonina (p=0,10). El rango de dosis de melatonina fue 3-150 mg/día (media=46,33 ± 34,1) recibiendo los adultos mayores una dosis media de 50,3 ±35,6. El 75.5% de los pacientes fueron tratados durante de doce meses con esta droga. Conclusión: Encontramos que 13.5% de pacientes tratados previamente con melatonina por diversos trastornos del sueño se infectaron por COVID-19, requiriendo internación con posterior alta médica un tercio de ellos. La tasa de letalidad en adultos mayores en agosto 2020 según los registros nacionales era de 10,5%. Ningún paciente tratado con melatonina falleció por dicha causa en esta muestra. No encontramos diferencias estadísticamente significativas en cuanto a dosis de melatonina indicada, edad o índice de masa corporal, al comparar los infectados con los no infectados. Los pacientes en general, eran mayoritariamente adultos mayores, tratados con dosis media mayor a 40 mg/día de melatonina por diversos trastornos del sueño, principalmente por quejas de insomnio, durante más de 12 meses. Los resultados son compatibles con un posible efecto preventivo de la melatonina en la pandemia COVID 19.Abtract: Melatonin is a safe medication with multiple uses in sleep medicine for the treatment of circadian rhythm disorders, insomnia, and REM sleep behavior disorder. In view that melatonin has been recommended as an adjuvant treatment in COVID 19 pandemic mainly due to its anti-inflammatory properties, the objective of the present study was to evaluate the history of COVID-19 infection and the requirement of hospitalization in a group of adult patients previously treated with melatonin for various sleep disorders. Material and methods: This is a retrospective cross-sectional study of data from a closed population of 110 adult patients at a University Hospital treated with melatonin for various sleep disorders, analyzed until the onset of COVID 19 pandemic. Demographic and melatonin-related variables (dose, treatment time) were analyzed and were reevaluated during the pandemic period, by scheduled tele-consultation regarding diagnosis, hospitalization requirements, variables related to COVID 19 infection prior to specific vaccination. Categorical variables were described as relative and absolute frequencies. Results: N = 110 patients. Age range = 40- 96 years (mean = 71 years ± 9.9), older adults> 65 years: N =87 (79,1%). COVID 19 infection was recorded in 15 patients (13.5%) requiring hospitalization in 5 of those infected, only one of them with severe pneumonia. There were no deaths due to COVID 19. There were no differences between infected vs. uninfected in age (p = 0.74), body mass index (p = 0.65) or melatonin dose (p = 0.10). The melatonin dose range was 3-150 mg / day (mean = 46.33 ± 34.1), older adults receiving a mean dose of 50,3 ± 35,6. The 75.5% of the patients were treated for at least 12 months with melatonin. Conclusion: We found that 13.5% of patients previously treated with melatonin for various sleep disorders were infected by COVID-19, requiring hospitalization with subsequent medical discharge one third of them. According to national records the lethality rate in older adults in August 2020 was 10.5%. No patient treated with melatonin died for this cause in this sample. We did not find statistically significant differences in terms of indicated melatonin dose, age or body mass index, when comparing those infected with those not infected. The patients in general were mostly older adults, treated with a mean dose greater than 40 mg / day of melatonin for various sleep disorders, mainly for complaints of insomnia, for more than 12 months. The results are consistent with a possible preventive effect of melatonin in the COVID 19 pandemic

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

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

Guia de prática clínica para o diagnóstico e tipificação da amiloidose: Parte 1/3. Ano 2020

Métodos: Se generó un listado de preguntas con el formato PICO centradas en la especificidad y sensibilidad de las pruebas diagnósticas en amiloidosis. Se realizó la búsqueda en PubMed durante julio-agosto del 2019, en inglés y español. Los niveles de evidencia y los grados de recomendación se basan en el sistema GRADE (http://www.gradeworkinggroup.org/index.htm). Las recomendaciones se graduaron según su dirección (a favor o en contra) y según fuerza (fuertes y débiles). Las recomendaciones finales fueron evaluadas con la herramienta GLIA para barreras y facilitadores en la implementación de éstas. Interpretación de recomendaciones: Las recomendaciones fuertes indican alta confianza, ya sea a favor o en contra, de una intervención. En esta guía se utiliza el lenguaje “se recomienda” cuando se define una recomendación fuerte. Las recomendaciones débiles indican que los resultados para una intervención, favorable o desfavorable, son dudosos. En este caso, se utiliza el lenguaje “se sugiere”, cuando se define una recomendación débil. Como utilizar estas pautas: Las recomendaciones deben ser interpretadas en el contexto de la atención especializada, con estudios diagnósticos validados y realizados por médicos entrenados. Se asume que el médico tratante tiene alto nivel de sospecha de amiloidosis. Asume que los estudios diagnósticos son realizados por médicos entrenados con métodos validados y estandarizados. Esta guía es relevante para los profesionales de la salud y los involucrados en las políticas sanitarias, para ayudar a asegurar que existan los acuerdos necesarios para brindar la atención adecuada. Recomendaciones En pacientes con sospecha de amiloidosis se recomienda: ● La confirmación en el tejido mediante biopsia y tinción con rojo Congo con la característica birrefringencia verde bajo luz polarizada. ● La confirmación mediante microscopía electrónica en el tejido de biopsia. ● La tipificación de la proteína mediante espectrometría de masa. ● La tipificación de la proteína mediante inmunomicroscopía óptica y/o electrónica, en la medida que haya anticuerpos confiables. ● La medición de las cadenas livianas libres séricas para evaluación de un trastorno proliferativo de células plasmáticas monoclonales. ● La Inmunofijación sérica y urinaria para la evaluación de un trastorno proliferativo de células plasmáticas monoclonales. ● La medición de las cadenas livianas libres sérica, más la Inmunofijación sérica y urinaria para la evaluación de un trastorno proliferativo de células plasmáticas monoclonales. En pacientes con sospecha de amiloidosis se sugiere: ● Demostración de un trastorno proliferativo de células plasmáticas monoclonales mediante la demostración de plasmocitos clonales por la técnica más sensible disponible en la médula ósea para el diagnóstico de amiloidosis de tipo AL. ● La confirmación de amiloidosis ATTRv mediante secuenciación de ADN del gen TTR amiloidogénico de los 4 exones en pacientes con sospecha de amiloidosis por ATTRvMethod: Use the PICO format to generate a series of questions, focusing on the specificity and sensitivity of the amyloidosis diagnostic test. PubMed searches were conducted in English and Spanish from July to August 2019. The level of evidence and recommendation are based on the GRADE system (http://www.gradeworkinggroup.org/index.htm). The recommendations are graded according to their direction (for or against) and strength (strong and weak). Finally, it is recommended to use GLIA tools to evaluate the obstacles and facilitators in implementation. Suggested explanation: A strong suggestion indicates a high degree of trust in support or opposition to the intervention. When defining a strong recommendation, this guide uses the "recommended" language. The weaker recommendations indicate that the outcome of the intervention (favorable or unfavorable) is doubtful. In this case, if a weak recommendation is defined, the "recommendation" language is used. How to use these guidelines: Recommendations must be explained within the scope of special care in validated diagnostic studies conducted by specially trained doctors. Presumably, the attending physician has a high degree of suspicion of amyloidosis. It assumes that diagnostic research is conducted by well-trained doctors using a validated standardized method. This guide is intended for health care professionals and those involved in health care policies to help ensure that the necessary agreements have been reached to provide appropriate care. Recommendations For patients with suspected amyloidosis, it is recommended: ● Confirmation in the tissue by biopsy and Congo red staining with the characteristic green birefringence under polarized light is recommended. ● Confirmation by electron microscopy of the biopsy tissue is recommended. ● Protein typing by mass spectrometry is recommended. ● Protein typing by optical and / or electronic immunomicroscopy is recommended, as long as there are reliable antibodies. ● Measurement of serum free light chains is recommended for evaluation of a monoclonal plasma cell proliferative disorder. ● Serum and urinary immunofixation is recommended for evaluation of a monoclonal plasma cell proliferative disorder. ● Measurement of serum free light chains, plus serum and urinary immunofixation is recommended for the evaluation of a monoclonal plasma cell proliferative disorder. For patients suspected of having amyloidosis, it is suggested: ● Demonstration of a monoclonal plasma cell proliferative disorder by demonstration of clonal plasma cells by the most sensitive technique available in the bone marrow for the diagnosis of AL-type amyloidosis. ● Confirmation of ATTRv amyloidosis by DNA sequencing of the 4-exon amyloidogenic TTR gene in patients with suspected ATTRv amyloidosis.Method: Use o formato PICO para gerar uma série de perguntas, com foco no especificidade e sensibilidade do teste diagnóstico de amiloidose. Pesquisas PubMed foram conduzido em inglês e espanhol de julho a agosto de 2019. O nível de evidência e as recomendações são baseadas no sistema GRADE (http://www.gradeworkinggroup.org/index.htm). As recomendações são avaliadas de acordo com sua direção (a favor ou contra) e força (forte e fraca). Enfim, é recomendado o uso de ferramentas GLIA para avaliar os obstáculos e facilitadores em implementação. Explicação sugerida: uma sugestão forte indica um alto nível de confiança no apoio ou oposição à intervenção. Ao definir recomendações fortes, este guia usa uma linguagem "recomendada". As recomendações mais fracas indicam que o resultado da intervenção (favorável ou desfavorável) é duvidoso. Nesse caso, se uma recomendação fraca for definida, a linguagem de "recomendação" será usada. Como usar essas diretrizes: As recomendações devem ser explicadas no contexto de cuidados especializados e estudos de diagnóstico validados realizados por médicos treinados. Suponha que o médico assistente suspeite de um alto nível de amiloidose. Ele presumiu que a pesquisa diagnóstica foi conduzida por médicos bem treinados usando métodos padronizados validados. Este guia se aplica a profissionais de saúde e todos os envolvidos na política de saúde para ajudar a garantir que os arranjos necessários sejam feitos para fornecer cuidados adequados. Em pacientes com suspeita de amiloidose, é recomendado: ● Confirmação do tecido por biópsia e coloração com vermelho do Congo com a birrefringência verde característica sob luz polarizada é recomendada. ● Confirmação por microscopia eletrônica do tecido da biópsia é recomendada. ● Tipagem de proteínas por espectrometria de massa é recomendada. ● Tipagem de proteínas por imunomicroscopia ótica e / ou eletrônica é recomendada, desde que haja anticorpos confiáveis. ● Medição das cadeias leves livres séricas é recomendada para avaliação de um distúrbio proliferativo de células plasmáticas monoclonais. ● Imunofixação sérica e urinária é recomendada para avaliação de um distúrbio proliferativo de células plasmáticas monoclonais. ● Medição das cadeias leves livres séricas, além da imunofixação sérica e urinária, é recomendada para a avaliação de um distúrbio proliferativo de células plasmáticas monoclonais. Em pacientes com suspeita de amiloidose, sugere-se: ● A demonstração de um distúrbio proliferativo de células plasmáticas monoclonais demonstração de plasmócitos clonais pela técnica mais sensível disponível na medula óssea para o diagnóstico de amiloidose do tipo AL. ● A confirmação da amiloidose ATTRv por sequenciamento de DNA do gene TTR amiloidogênico de 4 exon em pacientes com suspeita de amiloidose ATTRv.Fil: Posadas Martinez, Maria Lourdes. Hospital Italiano. Departamento de Medicina. Servicio de Clínica Médica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Aguirre, Maria Adela. Hospital Italiano. Departamento de Medicina. Servicio de Clínica Médica; ArgentinaFil: Belziti, César. Hospital Italiano; ArgentinaFil: Brouet, Eva. Clinica Giuliani Charata; ArgentinaFil: Auteri, Miguel Angel. Centro Médico de Avanzada; ArgentinaFil: Forte, Ana Luz. Centro Privado; ArgentinaFil: Greloni, Gustavo. Hospital Italiano. Departamento de Medicina. Servicio de Clínica Médica; ArgentinaFil: Marciano, Sebastian. Hospital Italiano. Departamento de Medicina. Servicio de Clínica Médica; ArgentinaFil: Matoso, María Dolores. Hospital Italiano; ArgentinaFil: Perez de Arenaza, Diego. Hospital Italiano; ArgentinaFil: Pitzus, Ariel Edgardo. Hospital Italiano; ArgentinaFil: Rugiero, Marcelo. Hospital Italiano; ArgentinaFil: Saez, María Soledad. Hospital Italiano; ArgentinaFil: Sorroche, Patricia Beatriz. Hospital Italiano; ArgentinaFil: Tomei, Mauricio. Clinica Giuliani Charata; ArgentinaFil: Zinser, Bettina. Clinica Giuliani Charata; ArgentinaFil: Peuchot, Veronica Andrea. Hospital Italiano. Departamento de Medicina. Servicio de Clínica Médica; ArgentinaFil: Nucifora, Elsa Mercedes. Hospital Italiano. Departamento de Medicina. Servicio de Clínica Médica; 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

Usefulness of the identification of antibodies in peripheral neuropathies, neuronopathies and ganglionopathies: review

Introducción: En los últimos anos ˜ la identificación de anticuerpos y gammapatías monoclonales ha permitido comprender la fisiopatología y favorecer el diagnóstico y tratamiento de una multiplicidad de neuropatías inmunomediadas. Objetivo: Describir los anticuerpos de mayor relevancia clínica en las neuropatías, ganglionopatías y neuronopatías inmunomediadas caracterizando en cada caso su valor fisiopatológico o diagnóstico, así como la sensibilidad y especificidad de los métodos utilizados para su determinación. Desarrollo: Se analizarán los anticuerpos identificados en 1) síndrome de Guillain-Barré; 2) polineuropatía inflamatoria desmielinizante crónica (PDIC), 3) neuropatía motora con bloqueo multifocal (NMM); 4) CANOMAD (neuropatía atáxica crónica, oftalmoplejía, proteína IgM monoclonal, aglutininas frías y anticuerpos disialosil); 5) ganglionopatías y neuronopatías y la utilidad de identificar las gammapatías monoclonales. Conclusiones: Los anticuerpos y las gammapatías monoclonales son herramientas que han permitido mejorar el diagnóstico y la comprensión fisiopatológica de las neuropatías inmunomediadas y algunas criptogénicas, así como orientar el tratamiento más adecuado.Introduction: Over the last several years the identification of both antineural antibodies and monoclonal gammopathies allowed a better understanding of pathophysiology and improvement in the diagnosis and treatment of many different immune mediated neuropathies. Objective: To describe the antineural antibodies of greater clinical utility in the diagnosis of immune mediated neuropathies and neuronopathies. In each case we underline their value in either the pathophysiology or diagnosis of these disorders as well as the sensitivity and specificity of the diagnostic techniques currently in use. Development: We will review the antibodies identified in 1) Guillain-Barré syndrome; 2) Chronic inflammatory demyelinating polyneuropathy (CIDP); 3) Multifocal motor neuropathy (MMN); 4) Chronic Ataxic Neuropathy Ophthalmoplegia M-protein Agglutination Disialosyl antibodies syndrome (CANOMAD); 5) Ganglionopathies and Neuropathies and the value of identifying monoclonal gammopathies. Conclusions: The antibodies and monoclonal gammopathies are useful tools in both the diagnosis and understanding of the mechanisms involved in immune mediated and cryptogenic neuropathies and orienting treatment.Fil: Reisin, Ricardo C.. Hospital Británico de Buenos Aires; ArgentinaFil: Salutto, Valeria Luján. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Aguirre, Florencia. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos; ArgentinaFil: Alvarez, Valeria. Hospital Italiano. Departamento de Medicina. Servicio de Neurologia.; ArgentinaFil: Barroso, Fabio. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaFil: Bendersky, Mariana. Hospital Italiano. Departamento de Medicina. Servicio de Neurologia.; ArgentinaFil: Berardo, Andrés. Columbia University; Estados UnidosFil: Bettini, Mariela. Hospital Italiano; ArgentinaFil: Borrelli, Mariano M.. Ministerio de Defensa. Ejército Argentino. Hospital Militar Central Cirujano Mayor "Dr. Cosme Argerich"; ArgentinaFil: Chaves, Marcelo. Hospital San Martín de Paraná; ArgentinaFil: Cisneros, Elisa M.. Complejo Medico Policial Bartolome Churruca Andres Visca; ArgentinaFil: Conti, Eugenia. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Crespo, José M.. Hospital Británico de Buenos Aires; ArgentinaFil: di Egidio, Mariana. Hospital Enrique Tornú; ArgentinaFil: Figueredo, María Alejandra. Gobierno de la Provincia de Buenos Aires. Hospital Interzonal de Agudos San Roque de Gonnet; ArgentinaFil: Gargiulo Monachelli, Gisella Mariana. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET; ArgentinaFil: Jáuregui, Agustín. Universidad Favaloro; ArgentinaFil: Landriscina, Paula. Instituto de Neurociencias Buenos Aires S. A.; ArgentinaFil: León Cejas, Luciana. Hospital Británico de Buenos Aires; ArgentinaFil: Martínez Perea, María del Carmen. Hospital Rivadavia; ArgentinaFil: Pirra, Laura. Universidad Favaloro; ArgentinaFil: Pivetta, Paola. Complejo Medico Policial Bartolome Churruca Andres Visca; ArgentinaFil: Quarracino, Cecilia. Complejo Medico Policial Bartolome Churruca Andres Visca; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Rattagan, María Lucía. Hospital Italiano; ArgentinaFil: Rey, Roberto. Gobierno de la Provincia de Buenos Aires. Hospital Interzonal General de Agudos Presidente Peron; ArgentinaFil: Rodriguez, Alejandro. Instituto de Neurociencias Buenos Aires S. A.; ArgentinaFil: Rodriguez, Gabriel E.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; ArgentinaFil: Rugiero, Marcelo. Hospital Italiano; ArgentinaFil: Tillard, Belen. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaFil: Zuberhbuler, Paz. Hospital Alvarez; Argentin