Hemimasticatory Spasm: Report of a Case and Review of the Literature

Background:&nbsp;Hemimasticatory Spasm is a very rare disorder. Case report:&nbsp;A 62-year-old woman consulted with 30 years of unusual involuntary twitches in preauricular region and spasms that hamper jaw opening.&nbsp; During the spasms she cannot open her mouth for several seconds. At physical examination we observed hypertrophy of the masseter and temporalis&nbsp;muscles, shared features with Hemimasticatory Spasm. She was treated with botulinum toxin type A with excellent response. Discussion:&nbsp;Hemimasticatory Spasm is a rare movement disorder, but given the excellent response to botulinum toxin type A treatment, it should be considered in the spectrum of facial spasms.</p

Tonic spasms are a common clinical manifestation in patients with neuromyelitis optica Espasmos tônicos são manifestações clínicas frequentes em pacientes com neuromielite óptica

Tonic spasms have been most commonly associated with multiple sclerosis. To date, few reports of series of patients with neuromyelitis optica and tonic spasms have been published. Methods: We analyzed the characteristics and frequency of tonic spasms in 19 subjects with neuromyelitis optica. Data was collected using a semi-structured questionnaire for tonic spasms, by both retrospectively reviewing medical records and performing clinical assessment. Results: All patients except one developed this symptom. The main triggering factors were sudden movements and emotional factors. Spasms were commonly associated to sensory disturbances and worsened during the acute phases of the disease. Carbamazepine was most commonly used to treat the symptom and patients showed good response to the drug. Conclusions: Tonic spasms are a common clinical manifestation in patients with neuromyelitis optica.<br>Espasmos t&#244;nicos t&#234;m sido mais frequentemente associados com esclerose m&#250;ltipla. Foram publicados at&#233; agora poucos relatos de s&#233;rie de pacientes com neuromielite &#243;ptica e espasmos t&#244;nicos. M&#233;todos: Foram analisadas as caracter&#237;sticas e a frequ&#234;ncia de espasmos t&#244;nicos em 19 indiv&#237;duos com neuromielite &#243;ptica. Os dados foram coletados por meio de um question&#225;rio semiestruturado para espasmos t&#244;nicos, mediante a avalia&#231;&#227;o retrospectiva dos prontu&#225;rios e a an&#225;lise dos dados cl&#237;nicos Resultados: Todos os pacientes com neuromielite &#243;ptica exceto um apresentaram espasmos t&#244;nicos. Os principais fatores desencadeantes foram movimentos bruscos e fatores emocionais. Espasmos foram frequentemente associados a perturba&#231;&#245;es sensoriais e se agravaram durante a fase aguda da doen&#231;a. A carbamazepina foi utilizada frequentemente para tratar os sintomas, com boa resposta. Conclus&#245;es: Os espasmos t&#244;nicos s&#227;o manifesta&#231;&#245;es cl&#237;nicas frequentes em pacientes com neuromielite &#243;ptica

Tonic spasms are a common clinical manifestation in patients with neuromyelitis optica

Tonic spasms have been most commonly associated with multiple sclerosis. To date, few reports of series of patients with neuromyelitis optica and tonic spasms have been published. Methods: We analyzed the characteristics and frequency of tonic spasms in 19 subjects with neuromyelitis optica. Data was collected using a semi-structured questionnaire for tonic spasms, by both retrospectively reviewing medical records and performing clinical assessment. Results: All patients except one developed this symptom. The main triggering factors were sudden movements and emotional factors. Spasms were commonly associated to sensory disturbances and worsened during the acute phases of the disease. Carbamazepine was most commonly used to treat the symptom and patients showed good response to the drug. Conclusions: Tonic spasms are a common clinical manifestation in patients with neuromyelitis optica

Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years

Introduction and objectives: Leukodystrophies and genetic leukoencephalopathies constitute a vast group of pathologies of the cerebral white matter. The large number of etiopathogenic genes and the frequent unspecificity on the clinical-radiological presentation generate remarkable difficulties in the diagnosis approach. Despite recent and significant developments, molecular diagnostic yield is still less than 50%. Our objective was to develop and explore the usefulness of a new diagnostic procedure using standardized molecular diagnostic tools, and next-generation sequencing techniques. Materials and methods: A prospective, observational, analytical study was conducted in a cohort of 46 patients, evaluated between May 2008 and December 2016, with a suspected genetic leukoencephalopathy or leukodystrophy. A diagnostic procedure was set up using classical monogenic tools in patients with characteristic phenotypes, and next-generation techniques in nonspecific ones. Results: Global diagnostic procedure yield was 57.9%, identifying the etiological pathogenesis in 22 of the 38 studied subjects. Analysis by subgroups, Sanger method, and next-generation sequencing showed a yield of 64%, and 46.1% respectively. The most common pathologies were adrenoleukodystrophy, cerebral autosomal-dominant arteriopathy with subcortical infarcts (CADASIL), and vanishing white matter disease. Conclusions: Our results confirm the usefulness of the proposed diagnostic procedure expressed in a high diagnostic yield and suggest a more optimal cost-effectiveness in an etiological analysis phase.Fil: Cohen, Leila. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; ArgentinaFil: Manín, Analisa. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; ArgentinaFil: Medina, Nancy. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; ArgentinaFil: Rodríguez Quiroga, Sergio. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; ArgentinaFil: González Morón, Dolores. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; ArgentinaFil: Rosales, Julieta. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; ArgentinaFil: Amartino, Hernan. Universidad Austral. Hospital Universitario Austral; ArgentinaFil: Specola, Norma. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Córdoba, Marta. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; ArgentinaFil: Kauffman, Marcelo Andres. Universidad Austral. Facultad de Ciencias Biomédicas. Instituto de Investigaciones en Medicina Traslacional. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones en Medicina Traslacional; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; ArgentinaFil: Vega, Patricia. Universidad de Buenos Aires. Facultad de Medicina. Centro Universitario de Neurología "Dr. José María Ramos Mejía".; Argentin

Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders

<div><p>Neuronal migration disorders are a clinically and genetically heterogeneous group of malformations of cortical development, frequently responsible for severe disability. Despite the increasing knowledge of the molecular mechanisms underlying this group of diseases, their genetic diagnosis remains unattainable in a high proportion of cases. Here, we present the results of 38 patients with lissencephaly, periventricular heterotopia and subcortical band heterotopia from Argentina. We performed Sanger and Next Generation Sequencing (NGS) of <i>DCX</i>, <i>FLNA</i> and <i>ARX</i> and searched for copy number variations by MLPA in <i>PAFAH1B1</i>, <i>DCX</i>, <i>POMT1</i>, and <i>POMGNT1</i>. Additionally, somatic mosaicism at 5% or higher was investigated by means of targeted high coverage NGS of <i>DCX</i>, <i>ARX</i>, and <i>PAFAH1B1</i>. Our approach had a diagnostic yield of 36%. Pathogenic or likely pathogenic variants were identified in 14 patients, including 10 germline (five novel) and 4 somatic mutations in <i>FLNA</i>, <i>DCX</i>, <i>ARX</i> and <i>PAFAH1B1</i> genes. This study represents the largest series of patients comprehensively characterized in our population. Our findings reinforce the importance of somatic mutations in the pathophysiology and diagnosis of neuronal migration disorders and contribute to expand their phenotype-genotype correlations.</p></div

Educación superior y pueblos indígenas en América Latina : experiencias, interpelaciones y desafíos

Este libro ofrece un panorama del campo de la Educación Superior y los Pueblos Indígenas en América Latina. Sus capítulos exponen estudios especialmente realizados sobre las experiencias de universidades creadas y gestionadas por organizaciones y/o referentes de pueblos indígenas, universidades interculturales creadas por los Estados y unidades académicas de universidades convencionales que desarrollan actividades en colaboración con dichos pueblos. Estos estudios describen experiencias actualmente en desarrollo en Argentina, Bolivia, Brasil, Chile, Colombia, Costa Rica y México, así como las de dos redes de colaboración entre universidades e intelectuales de pueblos indígenas de alcance latinoamericano