Core data set para la generación de datos de la vida real en esclerosis múltiple: adaptación de una iniciativa global para América Latina / Core data set for real world data in multiple sclerosis: customization for latin america from a global task force recommendation

Introducción: Los objetivos primarios del core data set son reducir la heterogeneidad y promover la armonización entre las fuentes de datos en la esclerosis múltiple (EM), reduciendo así el tiempo necesario para ejecutar esfuerzos en la recolección de datos de vida real. Recientemente, un grupo liderado por la Multiple Sclerosis Data Alliance ha desarrollado un core data set para la recolección de datos del mundo real en EM a nivel global. Nuestro objetivo ha sido adaptar y consensuar este conjunto de datos globales a las necesidades de América Latina para que pueda ser implementado por los registros ya desarrollados y en proceso de desarrollo en la región. Material y métodos. Se conformó un grupo de trabajo regionalmente y se adaptó el core data set creado globalmente (proceso de traducción al español, incorporación de variables regionales y consenso sobre variables que se iban a utilizar). El consenso se obtuvo a través de la metodología Delphi remoto de ronda de cuestionarios y discusión a distancia de las variables del core data set. Resultados: Veinticinco profesionales de América Latina llevaron adelante el proceso de adaptación entre noviembre de 2022 y julio de 2023. Se estableció un acuerdo sobre un core data set de nueve categorías y 45 variables, versión 2023, con la sugerencia de implementarlo en registros desarrollados o en vías de desarrollo y cohortes de EM en la región. Conclusión: El core data set busca armonizar las variables recolectadas por los registros y las cohortes de EM en América Latina con el fin de facilitar dicha recolección y permitir una colaboración entre fuentes. Su implementación facilitará la recolección de datos de vida real y la colaboración en la región.(AU)

Introduction: The primary objective of the core data set is to reduce heterogeneity and promote harmonization among data sources in EM, thereby reducing the time needed to execute real life data collection efforts. Recently, a group led by the Multiple Sclerosis Data Alliance has developed a core data set for collecting real-world data on multiple sclerosis (MS) globally. Our objective was to adapt this global data set to the needs of Latin America, so that it can be implemented by the registries already developed and in the process of development in the region. Material and methods: A working group was formed regionally, the core data set created globally was adapted (translation process into Spanish, incorporation of regional variables and consensus on variables to be used). Consensus was obtained through the remote Delphi methodology of a round of questionnaires and remote discussion of the core data set variables. Results: A total of 25 professionals from Latin America carried out the adaptation process between November 2022 and July 2023. Agreement was established on a core data set of nine categories and 45 variables, version 2023 to suggest its implementation in developed or developing registries, and MS cohorts in the region. Conclusion: The core data set seeks to harmonize the variables collected by registries and cohorts in MS in Latin America in order to facilitate said collection and allow collaboration between sources. Its implementation will facilitate real life data collection and collaboration in the region.(AU)

[Core data set for real world data in multiple sclerosis: customization for latin america from a global task force recommendation]. / Core data set para la generación de datos de la vida real en esclerosis múltiple: adaptación de una iniciativa global para América Latina.

INTRODUCTION: The primary objective of the core data set is to reduce heterogeneity and promote harmonization among data sources in EM, thereby reducing the time needed to execute real life data collection efforts. Recently, a group led by the Multiple Sclerosis Data Alliance has developed a core data set for collecting real-world data on multiple sclerosis (MS) globally. Our objective was to adapt this global data set to the needs of Latin America, so that it can be implemented by the registries already developed and in the process of development in the region. MATERIAL AND METHODS: A working group was formed regionally, the core data set created globally was adapted (translation process into Spanish, incorporation of regional variables and consensus on variables to be used). Consensus was obtained through the remote Delphi methodology of a round of questionnaires and remote discussion of the core data set variables. RESULTS: A total of 25 professionals from Latin America carried out the adaptation process between November 2022 and July 2023. Agreement was established on a core data set of nine categories and 45 variables, version 2023 to suggest its implementation in developed or developing registries, and MS cohorts in the region. CONCLUSION: The core data set seeks to harmonize the variables collected by registries and cohorts in MS in Latin America in order to facilitate said collection and allow collaboration between sources. Its implementation will facilitate real life data collection and collaboration in the region.

TITLE: Core data set para la generación de datos de la vida real en esclerosis múltiple: adaptación de una iniciativa global para América Latina.Introducción. Los objetivos primarios del core data set son reducir la heterogeneidad y promover la armonización entre las fuentes de datos en la esclerosis múltiple (EM), reduciendo así el tiempo necesario para ejecutar esfuerzos en la recolección de datos de vida real. Recientemente, un grupo liderado por la Multiple Sclerosis Data Alliance ha desarrollado un core data set para la recolección de datos del mundo real en EM a nivel global. Nuestro objetivo ha sido adaptar y consensuar este conjunto de datos globales a las necesidades de América Latina para que pueda ser implementado por los registros ya desarrollados y en proceso de desarrollo en la región. Material y métodos. Se conformó un grupo de trabajo regionalmente y se adaptó el core data set creado globalmente (proceso de traducción al español, incorporación de variables regionales y consenso sobre variables que se iban a utilizar). El consenso se obtuvo a través de la metodología Delphi remoto de ronda de cuestionarios y discusión a distancia de las variables del core data set. Resultados. Veinticinco profesionales de América Latina llevaron adelante el proceso de adaptación entre noviembre de 2022 y julio de 2023. Se estableció un acuerdo sobre un core data set de nueve categorías y 45 variables, versión 2023, con la sugerencia de implementarlo en registros desarrollados o en vías de desarrollo y cohortes de EM en la región. Conclusión. El core data set busca armonizar las variables recolectadas por los registros y las cohortes de EM en América Latina con el fin de facilitar dicha recolección y permitir una colaboración entre fuentes. Su implementación facilitará la recolección de datos de vida real y la colaboración en la región.

Comorbilidades en la esclerosis múltiple y su influencia en la elección del tratamiento / Comorbidities in multiple sclerosis and their influence on the choice of treatment

Los estudios clínicos de tratamientos para personas con esclerosis múltiple (pEM) se realizan en poblaciones seleccionadas, que excluyen a pacientes que presenten comorbilidades o medicaciones concomitantes. Sin embargo, un gran porcentaje de las pEM tiene alguna enfermedad adicional, que podría afectar a la respuesta y la elección del tratamiento. El objetivo de esta revisión es valorar cómo pueden las diferentes patologías concurrentes impactar en la elección de las terapias modificadoras de la enfermedad (TME) en las pEM. Se seleccionaron artículos relevantes mediante búsqueda en PubMed. Las comorbilidades se agruparon, a los fines de mejor ordenamiento de los artículos encontrados, en patologías diversas: autoinmunes, infecciones crónicas, cardiovasculares, respiratorias, metabólicas, oncológicas, neuropsiquiátricas y epilepsia. En cuanto a las patologías autoinmunes, es clave tener en cuenta los efectos de las TME sobre ellas y la posibilidad de interacción con sus tratamientos específicos. Las terapias inmunomoduladoras son seguras para personas con infecciones crónicas. Los tratamientos inmunosupresores, en general, están contraindicados en personas con infecciones activas. En las comorbilidades cardiovasculares y metabólicas deben tenerse en cuenta las potenciales reacciones de infusión asociadas a anticuerpos monoclonales, y los fenómenos asociados al inicio de tratamiento con moduladores del receptor de la esfingosina-1-fosfato. Las TME con efecto inmunosupresor están contraindicadas en personas con malignidades activas. Aunque la patología psiquiátrica de por sí no impide el uso de TME, debería tenerse precaución cuando aparecen nuevos síntomas psiquiátricos, y siempre tenerse en cuenta su monitorización y tratamiento. Por este motivo, entre los múltiples factores que deben considerarse a la hora de iniciar o cambiar una TME en pEM, las comorbilidades constituyen un elemento muchas veces decisivo.(AU)

Clinical trials of disease-modifying therapies (DMTs) for people with multiple sclerosis (pMS) are conducted in selected populations, excluding patients with comorbidities or concomitant medications. However, a large percentage of pMS have some additional disease, which could affect the response and choice of the DMT. The objective of this review is to assess how concurrent pathologies can impact the choice of DMTs. Relevant articles were selected through a systematic search in PubMed. Comorbidities were grouped for better classification into autoimmune, chronic infections, cardiovascular and metabolic, oncological and neuropsychiatric. In autoimmune pathologies, it is key to take into account the effects of TME on them and the possibility of interaction with their specific treatments. Immunomodulatory therapies are safe for people with chronic infections. Immunosuppressive treatments are generally contraindicated in people with active infections. In cardiovascular and metabolic comorbidities, infusion reactions associated with monoclonal antibodies, and the phenomena of starting treatment with S1P modulators, must be taken into account. DMTs with an immunosuppressive effect are contraindicated in people with active malignancies. Although psychiatric pathology per se does not preclude the use of DMTs, caution should be exercised when new psychiatric symptoms appear. For these reasons, among the multiple factors that must be considered when starting or changing a DMT in pMS, comorbidities constitute a decisive element.(AU)

[Comorbidities in multiple sclerosis and their influence on the choice of treatment]. / Comorbilidades en la esclerosis múltiple y su influencia en la elección del tratamiento.

Clinical trials of disease-modifying therapies (DMTs) for people with multiple sclerosis (pMS) are conducted in selected populations, excluding patients with comorbidities or concomitant medications. However, a large percentage of pMS have some additional disease, which could affect the response and choice of the DMT. The objective of this review is to assess how concurrent pathologies can impact the choice of DMTs. Relevant articles were selected through a systematic search in PubMed. Comorbidities were grouped for better classification into autoimmune, chronic infections, cardiovascular and metabolic, oncological and neuropsychiatric. In autoimmune pathologies, it is key to take into account the effects of TME on them and the possibility of interaction with their specific treatments. Immunomodulatory therapies are safe for people with chronic infections. Immunosuppressive treatments are generally contraindicated in people with active infections. In cardiovascular and metabolic comorbidities, infusion reactions associated with monoclonal antibodies, and the phenomena of starting treatment with S1P modulators, must be taken into account. DMTs with an immunosuppressive effect are contraindicated in people with active malignancies. Although psychiatric pathology per se does not preclude the use of DMTs, caution should be exercised when new psychiatric symptoms appear. For these reasons, among the multiple factors that must be considered when starting or changing a DMT in pMS, comorbidities constitute a decisive element.

TITLE: Comorbilidades en la esclerosis múltiple y su influencia en la elección del tratamiento.Los estudios clínicos de tratamientos para personas con esclerosis múltiple (pEM) se realizan en poblaciones seleccionadas, que excluyen a pacientes que presenten comorbilidades o medicaciones concomitantes. Sin embargo, un gran porcentaje de las pEM tiene alguna enfermedad adicional, que podría afectar a la respuesta y la elección del tratamiento. El objetivo de esta revisión es valorar cómo pueden las diferentes patologías concurrentes impactar en la elección de las terapias modificadoras de la enfermedad (TME) en las pEM. Se seleccionaron artículos relevantes mediante búsqueda en PubMed. Las comorbilidades se agruparon, a los fines de mejor ordenamiento de los artículos encontrados, en patologías diversas: autoinmunes, infecciones crónicas, cardiovasculares, respiratorias, metabólicas, oncológicas, neuropsiquiátricas y epilepsia. En cuanto a las patologías autoinmunes, es clave tener en cuenta los efectos de las TME sobre ellas y la posibilidad de interacción con sus tratamientos específicos. Las terapias inmunomoduladoras son seguras para personas con infecciones crónicas. Los tratamientos inmunosupresores, en general, están contraindicados en personas con infecciones activas. En las comorbilidades cardiovasculares y metabólicas deben tenerse en cuenta las potenciales reacciones de infusión asociadas a anticuerpos monoclonales, y los fenómenos asociados al inicio de tratamiento con moduladores del receptor de la esfingosina-1-fosfato. Las TME con efecto inmunosupresor están contraindicadas en personas con malignidades activas. Aunque la patología psiquiátrica de por sí no impide el uso de TME, debería tenerse precaución cuando aparecen nuevos síntomas psiquiátricos, y siempre tenerse en cuenta su monitorización y tratamiento. Por este motivo, entre los múltiples factores que deben considerarse a la hora de iniciar o cambiar una TME en pEM, las comorbilidades constituyen un elemento muchas veces decisivo.

[Argentinean consensus guidelines on the identification and clinical care of secondary progressive multiple sclerosis]. / Consenso sobre la identificación y seguimiento de la esclerosis múltiple secundaria progresiva en Argentina.

INTRODUCTION: The identification, diagnosis, follow-up, and treatment of patients with secondary progressive multiple sclerosis (SPMS) show significant differences between health care professionals in Argentina. AIM: To provide consensus recommendations on the management of patients with SPMS in Argentina to optimize patient care. DEVELOPMENT: A panel of expert neurologists from Argentina dedicated to the diagnosis and care of multiple sclerosis patients gathered during 2019 and 2020 to carry out a consensus recommendation on the diagnosis and treatment of SPMS patients in Argentina. To achieve consensus, the methodology of 'formal consensus-RAND/UCLA method' was used. Recommendations were established based on published evidence and the expert opinion. Recommendations focused on how to define SPMS and how to follow SPMS patients. CONCLUSION: The recommendations of this consensus guidelines attempt to optimize the care of SPMS patients in Argentina.

TITLE: Consenso sobre la identificación y seguimiento de la esclerosis múltiple secundaria progresiva en Argentina.Introducción. Existen diferencias significativas en el diagnóstico, la identificación y el seguimiento de pacientes con esclerosis múltiple secundaria progresiva (EMSP) entre los profesionales de la salud a cargo de su tratamiento. Objetivo. Proveer recomendaciones sobre el tratamiento de los pacientes con EMSP en Argentina con el fin de optimizar su cuidado. Desarrollo. Un grupo de neurólogos expertos en esclerosis múltiple de Argentina elaboró un consenso para el tratamiento de pacientes con EMSP en la región mediante metodología de ronda de encuestas a distancia y reuniones presenciales. Se establecieron 33 recomendaciones basadas en la evidencia publicada y en el criterio de los expertos que participaron. Las recomendaciones se enfocaron en el diagnóstico y el seguimiento de los pacientes con EMSP. Conclusión. Las recomendaciones establecidas en el presente consenso permitirían optimizar el cuidado y el seguimiento de los pacientes con EMSP en Argentina.

Clinical and imaging features distinguishing Susac syndrome from primary angiitis of the central nervous system.

INTRODUCTION: To assess clinical and/or imaging features useful to distinguish between Susac syndrome (SuS) and primary angiitis of central nervous system (PACNS). METHODS: Multicenter retrospective analysis of two cohorts of Argentine patients diagnosed with SuS and PACNS. RESULTS: 13 patients diagnosed with SuS (6 women and 7 men, mean age 35 ±â€¯10 years) and 15 with PACNS (10 women and 5 men, mean age 44 ±â€¯18 years) were analyzed. Cognitive impairment (11 out of 13 patients vs. 5 out of 15, p = .006), ataxia (7 out of 13 vs. 2 out of 15, p = .042) and auditory disturbances (7 out of 13 vs. 0 out of 15, p = .003) were more frequent in SuS patients; whereas seizures were more frequent in PACNS patients (8 out of 15 vs. 1 out of 13, p = .035). On MRI, corpus callosum (CC) involvement was observed more often in SuS, with abnormalities in CC genu, in 13 out of 13 SuS patients vs. only 2 out of 15 PACNS patients (p < .001); in CC body these were present in 13 out of 13 SuS patients vs. 1 out of 15 PACNS patients, (p < .001); and in CC splenium in 12 out of 13 Sus patients vs. 1 of 15 PACNS, p < .001). Cortical lesions were more frequent in PACNS patients (10 out of 15 vs. 3 out of 13 SuS patients, p = .02), as were hemorrhages (5 out of 15 vs. 0 out of 13 SuS, p = .04) and multiple basal ganglia infarcts (7 out of 15 vs. 1 out of 13 Sus, p = .037). CONCLUSION: Specific clinical and/or MRI findings may help distinguish SuS from PACNS with potential therapeutic implications.

Application of the 2015 diagnostic criteria for neuromyelitis optica spectrum disorders in a cohort of Latin American patients.

BACKGROUND: The 2015 International Panel for neuromyelitis optica (NMO) spectrum disorders (NMOSD) diagnosis (IPND) criteria was recently proposed. However, because there are no studies evaluating application of the IPND criteria in Latin American populations, we aimed to assess whether these new criteria improve the diagnostic rate and reduce the time taken to make the diagnosis in a cohort of Latin American patients. METHODS: We reviewed medical records and applied both the 2006 and 2015 diagnostic criteria to all patients seen in four centers in Argentina, Brazil and Venezuela. Patients with multiple sclerosis (MS, n = 915) or other well-established central nervous system (CNS) inflammatory diseases were excluded. AQP4-ab status was measured using indirect immunofluorescence (23%) and cell-based assay (CBA, 77%). In addition, data on gender, ethnicity, age and symptoms at onset, relapses, neuroimaging and immunosuppressive therapy were collected. RESULTS: A total of 104 patients were classified as presenting NMOSD (2015 IPND). Of these, 64 patients (61.5%) fulfilled the 2006 NMO criteria (32 AQP4-ab positive, 17 AQP4-ab negative and 15 unknown). Thus, 40 new patients (38.5%) were classified as presenting NMOSD using the 2015 IPND criteria (33 AQP4-ab positive, 5 AQP4-ab negative and 2 unknown AQP4-ab status), with a median time taken to fulfill the 2015 NMOSD criteria (n = 104) of 1 month (95% CI: 0.6-1.3) and a median time taken to fulfill the 2006 NMO criteria (n = 64) of 18 months (95% CI: 9-26) (log-rank test: p < 0.0001). Females, with median age of 37 years, white ethnicity and recurrent course, predominated in all samples. Ninety-nine patients (95.1%) had at least 1 of the 3 major core clinical characteristics, of which optic neuritis (56.7%) was the most frequent symptom at disease onset. CONCLUSION: This study showed that there was a 62.5% increase in the rate of diagnosing NMOSD through the 2015 IPND criteria, in comparison with the 2006 NMO criteria, with a shorter median time to diagnosis.

Diagnósticos diferenciales y pronóstico de las mielitis longitudinales extensas en Buenos Aires, Argentina / Differential diagnosis and prognosis for longitudinally extensive myelitis in Buenos Aires, Argentina

Introducción: Las mielitis longitudinales extensas (LETM) fueron clásicamente relacionadas con los trastornos del espectro de la neuromielitis óptica (NMOSD) tanto definidas como limitadas. Sin embargo, los diagnósticos diferenciales incluyen una amplia gama de etiologías. Objetivo: Comunicar los diagnósticos diferenciales y el pronóstico de LETM observados en un grupo de pacientes en Buenos Aires, Argentina. Pacientes y métodos: Estudio multicéntrico retrospectivo transversal realizado en 2 hospitales de Buenos Aires desde junio del 2008 hasta junio del 2014. Criterios de inclusión: síndrome medular asociado a una lesión en la médula espinal con una extensión de 3 o más segmentos vertebrales contiguos en la resonancia magnética (RM). Datos bioquímicos, radiológicos y clínicos fueron evaluados. Asimismo, se aplicó la escala de discapacidad funcional de Winer-Hughes (WHFDS) a los 3 meses. Resultados: Se evaluó a 27 pacientes, el 74% mujeres, edad (media): 35,22 años. NMO-IgG se realizó en el 66,6% y las bandas oligoclonales en el 71%. NMO-IgG se observó exclusivamente en pacientes con NMOSD (75%). La RM de encéfalo fue normal en el 59,2% y la media de segmentos afectados en RM espinal fue 7,9. Los diagnósticos diferenciales encontrados fueron: NMOSD (37%), idiopática (22,2%), lupus (11,1%), tumores (11,1%), fístula dural (7,4%), encefalomielitis diseminada aguda (7,4%) y esclerosis múltiple (3,7%). Los pacientes con ≥ 7 segmentos afectados tenían peor WHFDS (p < 0,001) y se asoció a etiología tumoral, vascular, lupus e idiopática. Conclusiones: En nuestra cohorte, NMOSD seguidos por idiopática, fueron las causas más frecuentes de LETM. Las LETM tumorales, vasculares, lupus e idiopáticas pueden representar un grupo crítico con diferente pronóstico y tratamiento

Introduction: Longitudinally extensive myelitis (LETM) has classically been grouped with the full or limited neuromyelitis optica spectrum disorders (NMOSD). However, differential diagnosis reveals a wide range of aetiologies. Objective: To report on differential diagnosis and prognosis for LETM observed in a group of patients in Buenos Aires, Argentina. Patients and methods: Cross-sectional and retrospective multicentre study in two hospitals in Buenos Aires from June 2008 to June 2014. Inclusion criteria: medullary syndrome associated with spinal cord lesion extending for 3 or more contiguous spinal segments in magnetic resonance imaging (MRI). Clinical, radiological, and biochemical data were collected and subjects were rated on the Hughes functional disability scale (WHFDS) at 3 months. Results: We evaluated 27 patients, 74% of whom were women; mean age was 35.22 years. The NMO-IgG antibody test was performed in 66.6% and oligoclonal band testing in 71%. NMO-IgG seropositivity was found exclusively in NMOSD patients (75%). Brain MRI was normal in 59.2% and revealed a mean of 7.9 affected spinal segments. Differential diagnoses revealed NMOSD (37%), idiopathic LETM (22.2%), lupus (11.1%), tumour (11.1%), dural fistula (7.4%), acute disseminated encephalomyelitis (7.4%), and a single case of multiple sclerosis (3.7%). Patients with lesions to ≥ 7 spinal segments showed poor recovery at 3 months (P<.001); these cases were associated with neoplastic, vascular, idiopathic, and lupus-related aetiologies. Conclusions: The most frequent causes of LETM in our cohort were NMOSD followed by idiopathic cases. Neoplastic, vascular, lupus-related, and idiopathic LETM may constitute a critical group with a distinct prognosis and other treatment needs

Differential diagnosis and prognosis for longitudinally extensive myelitis in Buenos Aires, Argentina. / Diagnósticos diferenciales y pronóstico de las mielitis longitudinales extensas en Buenos Aires, Argentina.

INTRODUCTION: Longitudinally extensive myelitis (LETM) has classically been grouped with the full or limited neuromyelitis optica spectrum disorders (NMOSD). However, differential diagnosis reveals a wide range of aetiologies. OBJECTIVE: To report on differential diagnosis and prognosis for LETM observed in a group of patients in Buenos Aires, Argentina. PATIENTS AND METHODS: Cross-sectional and retrospective multicentre study in two hospitals in Buenos Aires from June 2008 to June 2014. INCLUSION CRITERIA: medullary syndrome associated with spinal cord lesion extending for 3 or more contiguous spinal segments in magnetic resonance imaging (MRI). Clinical, radiological, and biochemical data were collected and subjects were rated on the Hughes functional disability scale (WHFDS) at 3 months. RESULTS: We evaluated 27 patients, 74% of whom were women; mean age was 35.22 years. The NMO-IgG antibody test was performed in 66.6% and oligoclonal band testing in 71%. NMO-IgG seropositivity was found exclusively in NMOSD patients (75%). Brain MRI was normal in 59.2% and revealed a mean of 7.9 affected spinal segments. Differential diagnoses revealed NMOSD (37%), idiopathic LETM (22.2%), lupus (11.1%), tumour (11.1%), dural fistula (7.4%), acute disseminated encephalomyelitis (7.4%), and a single case of multiple sclerosis (3.7%). Patients with lesions to ≥ 7 spinal segments showed poor recovery at 3 months (P<.001); these cases were associated with neoplastic, vascular, idiopathic, and lupus-related aetiologies. CONCLUSIONS: The most frequent causes of LETM in our cohort were NMOSD followed by idiopathic cases. Neoplastic, vascular, lupus-related, and idiopathic LETM may constitute a critical group with a distinct prognosis and other treatment needs.

Neuromielitis óptica: asociación con espasmos tónicos paroxísticos dolorosos / Neuromyelitis optica: association with paroxysmal painful tonic spasms

Introducción: Los espasmos tónicos paroxísticos dolorosos (ETPD) fueron descriptos inicialmente en la esclerosis múltiple (EM) pero serían más frecuentes en la neuromielitis óptica (NMO). El objetivo es comunicar su presencia en una serie de casos de NMO y su espectro (NMOSD), determinar la frecuencia y las características clínicas. Métodos y pacientes: Se evaluaron retrospectivamente historias clínicas de pacientes con NMO/NMOSD en 2 centros de la Ciudad de Buenos Aires (Hospital Durand y Hospital Álvarez) durante el periodo 2009-2013. Resultados: De 15 pacientes con NMOSD (7 con NMO definida y 8 con NMO limitada), 4 presentaron ETPD (26,66%). En los pacientes con NMO definida la frecuencia fue del 57,14% (4/7). De 9 (9/15) pacientes con mielitis longitudinal extensa (LETM) 44,44% presentó ETPD. Edad: media 35 años (rango: 22-38 años). Cien por cien sexo femenino. Tiempo desde el diagnóstico de NMO: media 7 meses (rango: 1-29 meses) y con respecto a la última recaída de LETM: media 30 días (rango: 23-40 días). El 100% presentó LETM (cervicodorsal 75% y dorsal 25%) en resonancia magnética (RM). El 100% presentó control de los espasmos y el dolor con carbamazepina (uno asociado a gabapentin) sin una respuesta adecuada a pregabalina, gabapentin y fenitoína. Conclusiones: Los ETPD son frecuentes en la NMO. Aparecen aproximadamente al mes de una recaída de LETM con lesiones cervicodorsales extensas en RM. Tienen excelente respuesta a carbamazepina y poca o nula a pregabalina y gabapentin. Estos resultados deberán ser confirmados con estudios prospectivos con mayor número de pacientes

Introduction: Paroxysmal painful tonic spasms (PPTS) were initially described in multiple sclerosis (MS) but they are more frequent in neuromyelitis optica (NMO). The objective is to report their presence in a series of cases of NMO and NMO spectrum disorders (NMOSD), as well as to determine their frequency and clinical features. Patients and Methods: We conducted a retrospective assessment of medical histories of NMO/NMOSD patients treated in 2 hospitals in Buenos Aires (Hospital Durand and Hospital Álvarez) between 2009 and 2013. Results: Out of 15 patients with NMOSD (7 with definite NMO and 8 with limited NMO), 4 presented PPTS (26.66%). PPTS frequency in the definite NMO group was 57.14% (4/7). Of the 9 patients with longitudinally extensive transverse myelitis (LETM), 44.44% (9/15) presented PPTS. Mean age was 35 years (range, 22-38 years) and all patients were women. Mean time between NMO diagnosis and PPTS onset was 7 months (range, 1-29 months) and mean time from last relapse of LETM was 30 days (range 23-40 days). LETM (75% cervicothoracic and 25% thoracic) was observed by magnetic resonance imaging (MRI) in all patients. Control over spasms and pain was achieved in all patients with carbamazepine (associated with gabapentin in one case). No favourable responses to pregabalin, gabapentin, or phenytoin were reported. Conclusions: PPTS are frequent in NMO. Mean time of PPTS onset is approximately one month after an LETM relapse, with extensive cervicothoracic lesions appearing on the MRI scan. They show an excellent response to carbamazepine but little or no response to pregabalin and gabapentin. Prospective studies with larger numbers of patients are necessary in order to confirm these results

Disease onset in familial and sporadic multiple sclerosis in Argentina.

UNLABELLED: The present study was carried out to assess if there is an anticipation of age at onset in younger generations of familial multiple sclerosis (FMS) vs. sporadic MS (SMS) in Argentina. METHODS: multicenter study that included patients from 14 MS Centers of Argentina. Patients were considered as FMS if they had in their family at least one relative of first or second degree diagnosed with MS; otherwise, patients were considered to have SMS. We compared the age at onset between familial and sporadic cases as well as the age at onset between relatives from different generations in FMS vs. SMS. RESULTS: 1333 patients were included, 97 of them were FMS (7.3%). A lower age at onset in the younger generations of FMS cases was found compared with older generations of FMS as well as. SMS cases (24.1±3.7 years vs. 30.3±5.7 years, and 32.4±9.4 respectively; p<0.001). No differences were observed between older generations of FMS vs. SMS cases (p=0.12). CONCLUSION: we observed an anticipation of age at onset of MS in younger generations of patients with FMS vs. older generations of FMS and SMS.

Neuromyelitis optica: association with paroxysmal painful tonic spasms. / Neuromielitis óptica: asociación con espasmos tónicos paroxísticos dolorosos.

INTRODUCTION: Paroxysmal painful tonic spasms (PPTS) were initially described in multiple sclerosis (MS) but they are more frequent in neuromyelitis optica (NMO). The objective is to report their presence in a series of cases of NMO and NMO spectrum disorders (NMOSD), as well as to determine their frequency and clinical features. PATIENTS AND METHODS: We conducted a retrospective assessment of medical histories of NMO/NMOSD patients treated in 2 hospitals in Buenos Aires (Hospital Durand and Hospital Álvarez) between 2009 and 2013. RESULTS: Out of 15 patients with NMOSD (7 with definite NMO and 8 with limited NMO), 4 presented PPTS (26.66%). PPTS frequency in the definite NMO group was 57.14% (4/7). Of the 9 patients with longitudinally extensive transverse myelitis (LETM), 44.44% (9/15) presented PPTS. Mean age was 35 years (range, 22-38 years) and all patients were women. Mean time between NMO diagnosis and PPTS onset was 7 months (range, 1-29 months) and mean time from last relapse of LETM was 30 days (range 23-40 days). LETM (75% cervicothoracic and 25% thoracic) was observed by magnetic resonance imaging (MRI) in all patients. Control over spasms and pain was achieved in all patients with carbamazepine (associated with gabapentin in one case). No favourable responses to pregabalin, gabapentin, or phenytoin were reported. CONCLUSIONS: PPTS are frequent in NMO. Mean time of PPTS onset is approximately one month after an LETM relapse, with extensive cervicothoracic lesions appearing on the MRI scan. They show an excellent response to carbamazepine but little or no response to pregabalin and gabapentin. Prospective studies with larger numbers of patients are necessary in order to confirm these results.