Mutação missense de novo patogênica c. 2415C G (p. Asp805Glu) no gene ATP1A3 em paciente com hemiplegia alternante da infância com resposta favorável ao cloridrato de biperideno / A de novo missense pathogenic mutation c.2415C> G (p.Asp805Glu) in ATP1A3 gene in a patient with alternating hemiplegia of childhood with favorable response to biperiden hydrochloride

A Hemiplegia Alternante da Infância é um distúrbio neurológico grave e uma doença rara (1 em cada 100.000 recém-nascidos), caracterizado por ataques repetidos transitórios de hemiplegia episódica ou tetraplegia que podem durar minutos a horas, acompanhados por outros sintomas paroxísticos como anormalidades oculomotoras e autonômicas, distúrbios do movimento como ataxia, comprometimento cognitivo progressivo, convulsões, distonia e coreia. Os tratamentos atuais são amplamente sintomáticos. Neste relato de caso, apresentamos paciente do sexo feminino, 18 anos, na qual aos 10 meses apresentou o primeiro episódio aparente de crise convulsiva com versão ocular. O eletroencefalograma e tomografia computadorizada não revelaram anormalidades e foram administradas diversas medicações como fenobarbital, carbamazepina, valproato de sódio, topiramato, dicloridrato de flunarizina, clonazepam, cipro-heptadina e pizotifeno, todos sem resultado. Devidos aos sintomas extrapiramidais, paciente passou a utilizar biperideno, apresentando não só melhora da distonia, mas também no número de crises hemiplégicas. Aos 13 anos, ela foi diagnosticada com Hemiplegia Alternante da Infância na mutação patogênica missense de novo c.2415C G (p.Asp805Glu) no gene ATP1A3 apresentando boa resposta ao tratamento com cloridrato de biperideno. (AU)

Alternating hemiplegia of childhood is a severe neurological disorder and a rare disease (1 in 100,000 newborns), characterized by repeated transient attacks of episodic hemiplegia or tetraplegia that can last minutes to hours, accompanied by other paroxysmal symptoms such as oculomotor and autonomic abnormalities, movement disorders such as ataxia, progressive cognitive impairment, seizures, dystonia, and chorea. Current treatments are largely symptomatic. In this case report, we present a female patient, 18 years old, who presented the first apparent episode of seizure with ocular version at ten months of age. The electroencephalogram and CT scan revealed no abnormalities, and several medications such as phenobarbital, carbamazepine, sodium valproate, topiramate, flunarizine dihydrochloride, clonazepam, cyproheptadine and pizotifen were administered, all without result. Due to the extrapyramidal symptoms, the patient started using biperidene, showing improvement in dystonia and the number of hemiplegic seizures. At age 13, she was diagnosed with Alternating hemiplegia of Childhood in the pathogenic missense de novo mutation c.2415C>G (p.Asp805Glu) in the ATP1A3 gene showing a good response to treatment with biperidene hydrochloride. (AU)

Effectiveness of physical exercise on the recovery of limb function in stroke patients / Eficácia do exercício físico na recuperação da função dos membros em pacientes com avc / Efectividad del ejercicio físico en la recuperación de la función de las extremidades en pacientes con acv

ABSTRACT Introduction Patients with cerebrovascular accident and hemiplegia need to perform physical exercise and aerobic training, but physical dysfunction restricts the performance of these activities. Objective The article aims to develop physical strength sports for stroke patients with hemiplegia to explore the efficacy of sports to regain limb function in these patients. Methods We randomly selected 30 patients with stroke sequelae and divided them into control and exercise groups. While undergoing rehab, the exercise group performed a certain amount of aerobic exercise. During this period, we compared the relevant physiological indicators of the patients, and, at the same time, we used the Fugle-Meyer motor function scoring method to assess limb function. Results The two groups of patients are significantly different regarding the recovery of physical function and the capacity for daily life. Physiological indicators of patients are also different. Conclusion Low-intensity aerobic exercise can help stroke and hemiplegia patients regain their basic ability to live and exercise. Level of evidence II; Therapeutic studies: investigation of treatment results.

RESUMO Introdução É muito importante que pacientes com acidente vascular encefálico e hemiplegia realizem exercícios físicos e treinamento aeróbio, mas a disfunção física restringe a realização dessas atividades. Objetivo o artigo tem como objetivo desenvolver esportes de força física para pacientes com AVC com hemiplegia para explorar a eficácia dos esportes para recuperar a função dos membros nesses pacientes. Métodos Selecionamos aleatoriamente 30 pacientes com sequela de AVC e os dividimos em grupos controle e exercício. Durante a reabilitação, o grupo de exercícios realmente executou uma certa quantidade de exercícios aeróbicos. Durante esse período, comparamos os indicadores fisiológicos relevantes dos pacientes e, ao mesmo tempo, usamos o método de pontuação da função motora de Fugle-Meyer para avaliar a função dos membros. Resultados Os dois grupos de pacientes são significativamente diferentes em termos de recuperação da função física e capacidade para a vida diária. Os indicadores fisiológicos dos pacientes também são diferentes. Conclusão O exercício aeróbico de baixa intensidade pode ajudar os pacientes com derrame e hemiplegia a recuperar sua capacidade básica de viver e se exercitar. Nível de evidência II; Estudos terapêuticos: investigação dos resultados do tratamento.

RESUMEN Introducción Es muy importante para los pacientes con accidente cerebrovascular y hemiplejía realizar ejercicio físico y entrenamiento aeróbico, pero la disfunción física restringe la realización estas actividades.Objeto: El artículo tiene como objetivo desarrollar deportes de fuerza física para pacientes con accidente cerebrovascular con hemiplejía para explorar la eficacia de los deportes para recuperar la función de las extremidades de estos pacientes. Métodos Seleccionamos aleatoriamente a 30 pacientes con secuelas por accidente cerebrovascular y los dividimos en grupos de control y de ejercicio. Mientras se sometía a rehabilitación, el grupo de ejercicio llegó a realizar una cierta cantidad de ejercicio aeróbico. Durante este período, comparamos los indicadores fisiológicos relevantes de los pacientes y, al mismo tiempo, utilizamos el método de puntuación de la función motora de Fugle-Meyer para evaluar la función de las extremidades. Resultados Los dos grupos de pacientes son significativamente diferentes en cuanto a la recuperación de la función física y la capacidad para la vida diaria. Los indicadores fisiológicos de los pacientes también son diferentes. Conclusión El ejercicio aeróbico de baja intensidad puede ayudar a los pacientes con accidente cerebrovascular y hemiplejía a recuperar su capacidad básica de vida y ejercicio. Nivel de evidencia II; Estudios terapéuticos: investigación de los resultados del tratamiento.

Relação entre função motora e cognitiva na paralisia cerebral hemiplégica / Relationship between motor and cognitive function in hemiplegic cerebral palsy

Introdução: Crianças com paralisia cerebral hemiplégica (PCH) exibem dificuldades funcionais na utilização do membro superior hemiparético, repercutindo negativamente no desempenho em realizar atividades de vida diária. Atualmente, os déficits motores nessa população são acompanhados por distúrbios sensoriais, dificuldades na aprendizagem, alterações de comportamento e comunicação e défices cognitivos gerais. Objetivo: Investigar a possível associação entre os déficits motores e cognitivos de crianças com PCH, verificando ainda a influência da lateralidade da hemiplegia. Métodos: Participaram do estudo 30 crianças com PCH (idade média = 10,48 ± 2,46 anos). Os participantes foram submetidos aos seguintes testes: Assisting Hand Assessment (AHA), Matrizes Progressivas Coloridas de Raven, o Subteste cubos do Wechsler Intelligence Scale for Children fourth Edition - WISC IV e a fluência verbal semântica de animais. Resultados: Os grupos foram homogêneos em relação ao sexo e idade (p > 0.05). Os grupos não diferiram em relação ao nível de desempenho motor, memória de trabalho, inteligência e fluência verbal (p > 0,05). O desempenho motor correlacionou com todas as variáveis cognitivas. Conclusão: Em crianças com PCH o desempenho motor correlacionou fortemente com funções cognitivas. Além disso, a lateralidade da lesão cerebral não influenciou o desempenho em tarefas motoras e cognitivas. (AU)

Introduction: Children with hemiplegic cerebral palsy (HCP) exhibit functional difficulties in using the hemiparetic upper limb, negatively impacting their performance in carrying out activities of daily living. Currently, motor deficits in this population are accompanied by sensory disorders, learning difficulties, changes in behavior and communication and general cognitive deficits. Objective: To investigate the possible association between motor and cognitive deficits in children with PCH, also verifying the influence of laterality in hemiplegia. Methods: Thirty children with PCH participated in the study (mean age = 10.48 ± 2.46 years). Participants were subjected to the following tests: Assisting Hand Assessment (AHA), Raven's Colorful Progressive Matrices, the Wechsler Intelligence Scale for Children fourth Edition - WISC IV Subtest and the semantic verbal fluency of animals. Results: The groups were homogeneous in relation to sex and age (p > 0.05). The groups did not differ in relation to the level of motor performance, working memory, intelligence and verbal fluency (p> 0.05). Motor performance correlated with all cognitive variables. Conclusion: In children with PCH, motor performance correlated strongly with cognitive functions. In addition, the laterality of the brain injury did not influence performance in motor and cognitive tasks. (AU)

Efectividad del tratamiento intensivo de rehabilitación en pacientes hemipléjicos posterior a un accidente cerebrovascular / Effectiveness of intensive rehabilitation treatment in hemiplegic patients following stroke

Introducción. Los accidentes cerebrovasculares (ACV) son considerados la segunda causa de muerte y la tercera causa de discapacidad a nivel mundial. En Ecuador constituyen la primera causa de mortalidad y son una amenaza para la salud debido al grado de discapacidad que pueden ocasionar, lo que genera un gran impacto socioeconómico, familiar y en la calidad de vida de la población que los sufre. Objetivo. Determinar la efectividad del tratamiento intensivo y no intensivo de rehabilitación en pacientes hemipléjicos posterior a un ACV atendidos en el servicio de medicina física y rehabilitación de un hospital de Guayaquil, Ecuador, entre 2015 y 2018. Materiales y métodos. Estudio transversal no experimental realizado en 99 pacientes ambulatorios con diagnóstico de ACV. Se aplicó el índice de Barthel, correlacionando la respuesta al tratamiento rehabilitador intensivo y no intensivo en el periodo de tiempo ya definido para establecer la mejoría en la calidad de vida de los pacientes. Resultados. El diagnóstico de ACV fue más prevalente en el sexo masculino (67,7%), además se encontró que el 67,7% de los casos fueron de tipo isquémico y que se presentaron compli- caciones en el 17,2%, y comorbilidades en el 73,7%. Se estableció asociación estadísticamente significativa (p=0,010) al iniciar precozmente el tratamiento rehabilitador con el grado de discapacidad y la calidad de vida. Un Chi cuadrado de 62,878 y un valor alfa de 0,0001 indicaron asociación estadística entre la rehabilitación intensiva y resultados favorables según el índice de Barthel. Conclusiones. El tratamiento de alto nivel de intensidad produce una mejor recuperación funcional en los pacientes hemipléjicos posterior a un ACV.

Introduction. Cerebrovascular accidents (CVA) are considered the second leading cause of death and the third leading cause of disability worldwide. In Ecuador, they are the leading cause of mortality and are a threat to health due to the degree of disability they can cause, which has a great socioeconomic and family impact, as well as on the quality of life of the population that suffers them. Objective. To determine the effectiveness of intensive and non-intensive rehabilitation treatment in hemiplegic patients following a stroke attended in the physical medicine and rehabilitation service of a hospital in Guayaquil, Ecuador, between 2015 and 2018. Materials and methods. Non-experimental cross-sectional study conducted in 99 outpatients with a diagnosis of stroke. The Barthel index was applied, correlating the response to intensive and non-intensive rehabilitative treatment in the time period already defined to establish the improvement in the patients' quality of life. Results. The diagnosis of stroke was more prevalent in the male sex (67.7%), and 67.7% of the cases were ischemic, with complications in 17.2% and comorbidities in 73.7%. A statistically significant association was established (p=0.010) between early initiation of rehabilitation treatment and the degree of disability and quality of life. A Chi-square of 62.878 and an alpha value of 0.0001 indicated a statistical association between intensive rehabilitation and favorable results according to the Barthel index. Conclusions. High-intensity treatment produces better functional recovery in hemiplegic patients after stroke.

Resultados terapéuticos de la aplicación de acupuntura y craneopuntura en pacientes hemipléjicos por accidente cerebrovascular isquémico / Therapeutic results of the application of acupuncture and craniopuncture in hemiplegic patients due to ischemic stroke

RESUMEN Introducción: las enfermedades cerebrovasculares son afecciones por pérdida funcional transitoria o permanente de una parte del sistema nervioso central, generalmente son de instalación súbita, causadas por: oclusiones arteriales, trombos, émbolos o por rotura de una arteria encefálica. Objetivo: determinar los resultados terapéuticos de la aplicación de la craneopuntura y acupuntura somática en pacientes hemipléjicos con diagnóstico de accidente cerebrovascular isquémico. Métodos: se realizó una investigación cuasi-experimental y prospectiva en el Hospital Universitario Clínico Quirúrgico Cmdte. Manuel Fajardo Rivero, Santa Clara, en el período de octubre 2015 a septiembre 2018. La población estuvo constituida por los pacientes ingresados en los servicios de Medicina Interna y Medicina Tradicional. Se conformaron dos grupos: estudio y control (17 pacientes en cada uno). Se realizó una entrevista médica a los pacientes, se aplicó el índice de Barthel y se confeccionó la historia clínica tradicional. Ambos grupos recibieron tratamiento fisioterapéutico y al grupo estudio se le añadió la craneopuntura y la acupuntura somática. Resultados: predominaron los pacientes del sexo masculino y el grupo etario de 70 a 79 años. La deficiencia de yin del riñón prevaleció en la muestra estudiada; se evidenció un mayor número de pacientes autónomos frágiles en el grupo estudio, en el cual, un 52,9 % presentó una evolución de la capacidad funcional satisfactorio, acompañada de un tiempo terapéutico corto. Conclusiones: los pacientes hemipléjicos por accidente cerebrovascular isquémico tratados con craneopuntura y acupuntura somática, mostraron resultados terapéuticos favorables, en comparación con el grupo que no recibió este tratamiento.

ABSTRACT Introduction: cerebrovascular diseases are affections due to temporary or permanent functional loss of a part of the central nervous system, generally they are of sudden installation and are caused by arterial occlusions, thrombi, emboli or by rupture of an encephalic artery. Objective: to determine therapeutic results of the application of craniopuncture and somatic acupuncture in hemiplegic patients diagnosed with ischemic stroke. Methods: a quasi-experimental and prospective investigation was carried out at ‟Cmdte. Manuel Fajardo Rivero" Clinico-Surgical University Hospital in Santa Clara, from October 2015 to September 2018. The population consisted of patients admitted to the Internal Medicine and Traditional Medicine services. Two groups were formed: study and control (17 patients in each one). A medical interview to the patients was carried out, Barthel Index was applied and a traditional medical record was drawn up. Both groups received physiotherapeutic treatment and craniopuncture and somatic acupuncture were added to the study group. Results: male patients and the age group from 70 to 79 years predominated. Kidney -yin deficiency prevailed in the sample studied; a greater number of frail autonomous patients was evidenced in the study group, in which 52.9% had a satisfactory evolution of functional capacity, accompanied by a short therapeutic time. Conclusions: hemiplegic patients due to ischemic stroke treated with craniopuncture and somatic acupuncture, showed favorable therapeutic results, in comparison with the group that did not receive this treatment.

Efectos de una terapia basada en estimulación eléctrica funcional de activación bimanual combinada con el entrenamiento de biofeedback electromiográfico en la función motora de la extremidad superior parética en sujetos secuelados de accidente cerebrovascular / Effects of a therapy based on a functional electrical stimulation of bimanual activation combined with the training of electromyographic biofeedback on the motor function of the upper limb in subjects with stroke

Resumen Introducción El accidente cerebrovascular constituye la principal causa de muerte y discapacidad en Chile. Más del 85% de los pacientes sufren hemiplejía y más del 69% discapacidad motora funcional de las extremidades superiores. Esta alteración genera impacto en el uso de la extremidad superior, afectando las diversas actividades de la vida diaria de las personas. No existen estudios que combinen terapia de biofeedback electromiográfico y activación bimanual con estimulación eléctrica funcional en sujetos secuelados de Accidente cerebrovascular (ACV). Por esto, surge el interés de determinar el efecto que tiene un protocolo de entrenamiento basado en Estimulación Eléctrica Funcional (EEF) con activación bimanual y terapia de biofeedback en la función de la extremidad superior. Metodología: 15 sujetos secuelados de ACV entre 40 y 85 años reclutados en el área de neurorrehabilitación ambulatoria de Clínica Dávila, aleatorizados en un grupo experimental y en dos grupos controles de 5 sujetos. En cada sesión el grupo experimental entrenará quince minutos de activación bimanual con electroestimulación funcional y luego un programa de entrenamiento de biofeedback de diez minutos, mientras que el grupo control 1 y control 2 entrenaron en las mismas condiciones pero con EEF placebo y BF-EMG placebo respectivamente Resultados Existieron cambios significativos en el grupo experimental luego de la intervención. Conclusión Este estudio sugiere la estimulación eléctrica funciona y biofeedback como una herramienta para la rehabilitación de la extremidad superior paréticas en sujetos secuelados de ACV.

Introduction: Stroke is the leading cause of death and disability in Chile. More than 85% of patients suffer from hemiplegia and more than 69% functional motor disability of the upper extremities. This alteration generates an impact on the use of the upper limb, affecting the various activities of people's daily lives. There are no studies that combine electromyographic biofeedback therapy and bimanual activation with functional electrical stimulation in subjects with stroke. Therefore, there is interest in determining the effect of a training protocol based on Functional Electrical Stimulation (FES) with bimanual activation and biofeedback therapy on the function of the upper limb. Methodology: 15 subjects with stroke between 40 and 85 years recruited in the outpatients neurorehabilitation program of Clínica Dávila, randomized in an experimental group and in two control groups of 5 subjects. In each session the experimental group will train fifteen minutes of bimanual activation with functional electrostimulation and then a ten-minute biofeedback training program, while the control 1 and control 2 group trained under the same conditions but with placebo FES and placebo BF-EMG respectively. Results There were significant changes in the experimental group after the intervention. Conclusion This study suggests the electrical stimulation works and biofeedback as a tool for the rehabilitation of the upper limb in subjects with stroke.

Tumor de Klatskin y metástasis cerebral como presentación inusual en cáncer de mama / Klatskin tumor and brain metastasis in a breast cancer patient: Case report

Introducción: El cáncer de mama es la principal causa de muerte en mujeres a nivel mundial, se los clasifica en base a la expresión del receptor de estrógenos, de progesterona y de ERBB2. El tumor de Klatskin es infrecuente y se origina en la bifurcación del conducto biliar extrahepático. Presentación del caso: Paciente femenina de 60 años con diagnóstico de cáncer de mama estadío IIIB, que presenta hemiplejía derecha secundaria a lesión cerebral metastásica, inicialmente catalogada como neurocisticercosis. Después de 1 año 7 meses desarrolla ictericia colestásica cuya evaluación clínica permite evidenciar tumor de Klatskin mediante colangioresonancia. Discusión: El presente caso muestra una paciente con múltiples metástasis secundarias a cáncer de mama. Incluyendo, de igual manera, un tumor de Klatskin, el cual fue descubierto posterior a un síndrome colestásico. Son pocos los casos de la literatura que registran procesos metastásicos hacia conductos biliares con origen en un carcinoma ductal infiltrante. Conclusiones: Pocos casos en la literatura registran procesos metastásicos hacia las vías biliares con origen en infiltración ductal carcinoma; sin embargo, es fundamental informar para la evidencia clínica y el estudio de la literatura.

Introduction: Breast cancer is the principal cause of death in women worldwide, classi ed based on the expression of estrogen receptor, progesterone, and ERBB2. Klatskin tumor is rare and originates in the bifurcation of the extrahepatic bile duct. Case presentation: A 60 years old female patient diagnosed with stage IIIB breast cancer presents right hemiplegia secondary to metastatic brain injury, initially classi ed as neurocysticercosis. After one year and seven months, she developed cholestatic jaundice, whose clinical evaluation allows Klatskin tumor evidence through cholangioresonance. Discussion: The present case is about a patient with multiple metastases secondary to breast cancer. Including, in the same way, a Klatskin tumor, which was discovered after a cholestatic syndrome. Conclusions: Few cases in the literature register metastatic processes towards bile ducts originating from in ltrating ductal carcinoma; however, it is essential to report for clinical evidence and study of the literature.

Discovery of Apraxia (Historical Note) / Descoberta da apraxia (Nota Histórica)

Skilled movements certainly exist since the dawn of the humans, embedded in the actions of daily living, and also represented by tools and weapons making and use, as well as by artistic activities as drawing and engraving. A very long period of time elapsed until such actions were recognized as special, and the designation 'praxis' was attributed to such ability of produce refined movements. Another long time passed, and only recently disturbances of such actions caused by brain lesions were identified, leading to the concept of 'apraxia'. Studies on this subject progressed quickly, and in a few decades reached the state resembling to what is seen nowadays.

Movimentos hábeis certamente existem desde a aurora dos humanos, incluídos nas ações da vida diária e também representados na feitura e uso de ferramentas e de armas, assim como por atividades artísticas como desenhar e gravar. Decorreu um longo período de tempo até que tais ações fossem reconhecidas como especiais e a designação de 'praxia' foi atribuída para tais habilidades para produzir movimentos refinados. Outro tempo prolongado passou, e apenas recentemente desordens de tais ações causadas por lesões cerebrais fossem identificadas, levando ao conceito de 'apraxia'. Estudos sobre esse assunto progrediram rapidamente e em poucas décadas alcançaram o estado que se assemelha ao que é visto atualmente.

Análise eletromiográfica dos músculos tibial anterior e sóleo em pacientes hemiparéticos nos ambientes aquático e terrestre / Electromyographic analysis of the anterior tibialis and soleus muscle in hemiparetic patients in the aquatic and land environment

O objetivo deste trabalho foi verificar a ativação dos músculos tibial anterior e sóleo em pacientes hemiparéticos e indivíduos hígidos, em bipedestação no ambiente aquático em comparação ao solo e verificar se há correlação entre ativação muscular e medidas funcionais. Trata-se de um estudo transversal, no qual foram incluídos 6 indivíduos hígidos no grupo controle (GC) e 6 hemiparéticos no grupo estudo (GE). Os participantes foram caracterizados por meio dos instrumentos Mini-Exame do Estado Mental (MEEM), Escala de Equilíbrio de Berg (EEB), Medida da Independência Funcional (MIF) e eletromiografia (EMG) de superfície dos músculos tibial anterior e sóleo em diferentes posturas de bipedestação, nos ambientes terrestre e aquático em dois níveis de imersão, sendo eles processo xifoide (PX) e crista ilíaca ântero superior (CIAS). Como resultados, o GE obteve pontuação média de 24±6,7 no MEEM, sem perdas cognitivas, 80,8±2,7 na MIF, com dependência modificada e independência completa e 48,5±7,1 na EEB, sem riscos de quedas. A EMG evidenciou maior ativação do músculo sóleo no GE quando comparado ao GC, bem como maior ativação no lado hemiparético quando comparado ao lado não afetado. Constatou-se uma correlação inversamente proporcional entre a EMG e a EEB no GE. Com esse estudo foi possível compreender o comportamento dos músculos tibial anterior e sóleo de indivíduos hemiparéticos no ambiente aquático quando comparado ao solo, em posturas comumente utilizadas na reabilitação aquática. Esse melhor entendimento pode possibilitar uma intervenção mais adequada, com repercussões na prática clínica e de atividade física realizadas no ambiente aquático com indivíduos hemiparéticos....(AU)

The purpose of this present trial was to evaluate the activation of the tibialis anterior and soleus muscles in hemiparetics and health individuals, in a standing position performed in aquatic environment and compared to activation of this muscles on the land and verify if there is correlation between muscular activation and functional measures. In this cross-sectional study were included six health individuals in the control group (CG) and six hemiparetics individuals in the experimental group (EG). Participants were characterized by Mini Mental State Exam (MMSE), Berg Balance Scale (BBS), Functional Independence Measure (FIM) and surface electromyography (EMG) of the tibialis anterior and soleus muscles in different stand positions in aquatic environment and on the land in a two-step immersion to the xiphoid process and anterior superior iliac spine. As a result, the EG obtained a mean score of 24 ± 6.7 in the MMSE, without cognitive losses, 80.8 ± 2.7 in the FIM, with modified dependence and complete independence, and 48.5 ± 7.1 in BBE, without risks of falls. The surface EMG showed greater activation of the soleus muscle in the EG when compared to the CG, as well as greater activation on the hemiparetic side when compared to the unaffected side. An inverse proportional relationship between surface EMG and BBE in the EG was found. With this study it was possible to understand the behavior of the tibialis anterior and soleus muscles in hemiparetic individuals in the aquatic environment when compared to land, in postures commonly used in aquatic rehabilitation. This better understanding may allow a more adequate intervention, with repercussions in clinical practice and physical activity performed in the aquatic environment with hemiparetic individuals....(AU)

Neurosífilis meningovascular como causa de accidente cerebrovascular en paciente joven: reporte de caso / Meningovascular neurosyphilis as a cause of stroke in a young patient: case report

Resumen El accidente cerebrovascular en adultos jóvenes es un evento raro presente en menos del 5% de los casos a nivel mundial, representando un reto diagnóstico debido a las múltiples etiologías posibles, entre ellas las infecciones. Del 15% al 40% de los pacientes con sífilis no tratada pueden desarrollar sífilis terciaria con manifestaciones principalmente neurodestructivas, descritas en la sífilis tardía pero con meningitis crónica y accidente cerebrovascular de tipo meningovascular en su fase temprana. Se presenta el caso de un paciente masculino de 40 años con antecedente de cambios de comportamiento, alucinaciones auditivas e insomnio, quien consulta a urgencias por presentar hemiplejia derecha, afasia motora, lesiones palmo-plantares y roseta en glande asociada a adenopatías inguinales. Dados los hallazgos imagenológicos y de líquido cefalorraquídeo se estableció diagnóstico de accidente cerebrovascular isquémico de circulación cerebral anterior izquierda secundario a neurosífilis meningovascular, con confirmación de inmunosupresión por virus de inmunodeficiencia humana. MÉD.UIS.2019;32(2):53-8

Abstract Stroke in young adults is a rare event present in less than 5% of cases worldwide, representing a diagnostic challenge due to the multiple possible etiologies, including infections. 15% to 40% of patients with untreated syphilis may develop tertiary syphilis; with mainly neurodestructive manifestations, described in late syphilis, but in its early stage with chronic meningitis and meningovascular stroke. The case of a 40-year-old male patient with a history of behavior changes, auditory hallucinations and insomnia is presented, who consults the emergency department for presenting right hemiplegia, motor aphasia, palmoplantar lesions and rosette in glans associated with inguinal adenopathies. Given the imaging and cerebrospinal fluid findings, a diagnosis of ischemic stroke of the left anterior cerebral circulation was established, secondary to meningovascular neurosyphilis, with confirmation of immunosuppression due to human immunodeficiency virus. MÉD.UIS.2019;32(2):53-8

A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing / Mutación de novo recurrente en el gen ATP1A3 en una paciente mexicana con hemiplejia alternante de la infancia detectada por secuenciación masiva en paralelo

Abstract Background: Pediatric movement disorders represent a diagnostic challenge for pediatricians and pediatric neurologists due to their high clinical heterogeneity and shared common features. Therefore, specific diagnoses require different approaches including metabolic work-up and specific tests for frequent genetic conditions. Alternating hemiplegia of childhood (AHC) is an ultra-rare pediatric movement disorder, characterized by paroxysmal alternating hemiplegia, dystonia, and seizure-like episodes that can be misleading during the evaluation of a child with a movement disorder. Case report: We present a Mexican patient with abnormal movements referred to the Genetics clinic because of hyperammonemia and a possible organic acidemia. Our assessment did not find clinical features compatible with an inborn error of metabolism. A massively parallel sequencing approach with targeted panel sequencing was used to get a final diagnosis. A missense variant c.2839G>A (p.Gly947Arg) located at exon 21 of ATP1A3 gene was demonstrated. This variant (rs398122887) has been previously reported as de novo producing alternating hemiplegia of childhood (AHC). Conclusions: AHC is an ultra-rare syndrome presented as a movement disorder with seizure-like episodes and a unique facial phenotype. Clinicians should be aware of this combination in order to diagnose this condition in a timely manner. Massive parallel sequencing panels are emerging as the best approach to diagnose rare movement disorders and simultaneously rule out metabolic disorders and common epileptic syndromes.

Resumen Introducción: Los trastornos pediátricos del movimiento representan un reto diagnóstico para pediatras y neurólogos pediatras debido a su gran heterogeneidad clínica y características comunes compartidas. Por lo tanto, los diagnósticos específicos requieren de diferentes abordajes que incluyen la búsqueda de desórdenes metabólicos y pruebas específicas para condiciones genéticas frecuentes. La hemiplejia alternante de la infancia (AHC) es un trastorno pediátrico del movimiento poco común, caracterizado por cuadros paroxísticos de hemiplejia alternante, distonía y episodios semejantes a crisis epilépticas, que pueden resultar desorientadores durante el abordaje diagnóstico de un infante con un desorden del movimiento. Caso clínico: Presentamos una paciente mexicana con movimientos anormales referida a la Clínica de Genética por hiperamonemia y una posible acidemia orgánica. Nuestro abordaje no identificó características clínicas compatibles con un error innato del metabolismo. Se utilizó un abordaje basado en secuenciación masiva en paralelo para obtener un diagnóstico final. Se demostró una variante de sentido equivocado c.2839G>A (p.Gly947Arg) localizada en el exón 21 del gen ATP1A3. Esta variante (rs398122887) ha sido previamente reportada como de novo, ocasionando AHC. Conclusiones: La AHC es un síndrome excepcionalmente raro que se presenta con un trastorno del movimiento con cuadros semejantes a crisis epilépticas y un fenotipo facial particular. Los médicos deben ser conscientes de esta combinación con el fin de diagnosticar oportunamente esta condición. Los paneles de secuenciación masiva están emergiendo como el mejor abordaje para diagnosticar trastornos del movimiento raros y, simultáneamente, descartar trastornos metabólicos y síndromes epilépticos comunes.

The myofascial component of the pain in the painful shoulder of the hemiplegic patient

OBJECTIVES: Poststroke shoulder pain occurs very frequently and compromises function and quality of life. Because treatment depends on a multidisciplinary approach, it is desirable to optimize effectiveness. Myofascial pain syndrome is defined by the presence of trigger points that can also be found in spastic stroke patients. The aim of this study was to evaluate the frequency of myofascial pain in the shoulder girdle muscles in patients with poststroke shoulder pain and to document the clinical and functional results obtained with specific treatment for this condition. METHODS: Spastic stroke hemiplegic patients undergoing rehabilitation at the Rehabilitation Center of the Hospital das Clínicas of the Ribeirão Preto Medical School of the University of São Paulo were evaluated regarding the intensity and characteristics of shoulder pain, previous therapeutic interventions, shoulder goniometry and the presence of trigger points. Patients underwent trigger point blockade by intramuscular infiltration of 1% lidocaine. The evaluation and treatment procedures were repeated in the subsequent 3 weeks as long as the pain intensity was greater than 5 on a visual analog scale (VAS). In the fourth week, the evaluation procedures were repeated. Patients who were in a multiprofessional rehabilitation program were instructed to continue the treatment, and the others received complementary therapeutic advice if necessary to initiate it. The evaluations were performed at 0, 1, and 3 weeks and after 4 months. RESULTS: Twenty-one patients (13 men; age=67.8±10.2 years; right hemiparesis: 11) participated in the study, and there was a reduction in pain assessed by VAS from baseline (7.6±2.7) to the first week (5.8±3.6; p<0.05) through the end of the third week (5.2±3.5; p<0.05), but not at the end of four months (6.6±2.9; p=0.11). Good responders had significantly lower pain levels after the third week and presented with a larger range of motion for passive abduction by the end of 4 months. These results demonstrate that the myofascial component of pain should be considered in poststroke shoulder pain and that its treatment may be a pathway for the rapid and long-lasting relief of symptoms. CONCLUSION: Trigger point blockade with lidocaine can reduce pain perception in spastic hemiplegic shoulder in as much as 50% of stroke survivors for four months.

Controle de tronco, equilí­brio e capacidade de transferência de peso após acidente vascular encefálico: ferramentas de aferição e acompanhamento / Trunk control, balance and weight bearing ability after stroke: a review of assessment tools

Introdução: Acidentes vasculares encefálicos interferem em mecanismos posturais podendo prejudicar a marcha e as atividades dos membros. Frequentemente, alteram o controle de tronco (CT), o equilibrio (EQ) e a capacidade de realizar transferência de peso (CTP), três objetivos fundamentais do treino de tronco. Objetivo: Realizar uma revisão dos instrumentos de avaliação quantitativa disponí­veis para acompanhamento do CT, do EQ e da CTP após acidente vascular encefálico. Métodos: Revisão narrativa, baseada nas bases de dados Pubmed/Medline, Lilacs e Scielo. Resultados: As estratégias de treino de tronco contribuem para a estabilização e mobilidade do tronco importantes para as atividades de vida diária. Determinadas ferramentas quantitativas são mais frequentemente utilizadas e foram descritas sucintamente: para o CT propriamente dito ­ Trunk Impairment Scale, Trunk Control Test; para o EQ ­ Escala de Equilí­brio de Berg, Índice do Andar Dinâmico, Teste do Alcance Funcional e Lateral, Balance Evaluation Systems Test e Mini-Balance Evaluation System Test, Timed Up and Go Test, Escala de Equilí­brio e Mobilidade de Tinetti; e para a CTP ­ Avaliação da Simetria e Transferência de Peso (ASTP). Conclusão: Dos três domí­nios estudados, ferramentas de avaliação quantitativa estão disponí­veis sobretudo para controle de tronco e equilí­brio. Apesar de relativamente comuns, distúrbios da capacidade de transferência de peso não dispõem da mesma riqueza de instrumentos. Ressalta-se a importância da utilização dessas ferramentas para avalição inicial e seguimento no processo de reabilitação. (AU)

Introduction: Stroke interferes with postural mechanisms that may impair gait and limb activities. Often, they interfere in trunk control (TC), balance and ability to perform weight transfer, three fundamental aims of trunk training. Objective: To perform a review of the quantitative instruments available for assessing of TC, balance and weight bearing ability (WBA). Methods: Narrative review, based on Pubmed/Medline, Lilacs and Scielo databases. Results: Trunk training strategies contribute to the stabilization and mobility of the trunk, which are important for activities of daily life. Certain quantitative tools are most frequently used and were described briefly: for the CT itself - Trunk Impairment Scale, Trunk Control Test; for balance - Berg Balance Scale, Dynamic Gait Index, Functional and Lateral Reach Test, Balance Evaluation Systems Test and Mini-Balance Evaluation System Test, Timed Up and Go Test, Tinetti Balance and Mobility Scale; and for WBA - Assessment of Symmetry and Weight Transfer ability. Conclusion: Of the three domains studied, quantitative assessment tools have been available mostly for trunk control and balance. Although relatively common, weight bearing disorders do not have the same richness of instruments. The importance of using these tools for initial evaluation and follow-up in the rehabilitation process is highlighted. (AU)

Vasculitis primaria del sistema nervioso central en población pediátrica: reporte de caso y revisión de la literatura / Childhood primary vasculitis of the central nervous system: Case report and literature review

RESUMEN La vasculitis primaria del sistema nervioso central es una enfermedad infrecuente que puede afectar a adultos y población pediátrica. Puede comprometer los vasos sanguíneos cerebrales tanto de mediano o gran calibre como los de pequeño calibre y estar asociada a procesos inflamatorios, infecciosos, tumorales o ser de origen idiopático. Describimos el caso de un adolescente con deterioro neurológico focal dado por hemiplejía derecha en quien se descartaron otras causas más frecuentes de isquemia cerebral, con diagnóstico final de vasculitis primaria del sistema nervioso central asociada a infección por virus de Epstein Barr.

ABSTRACT Primary angiitis of the central nervous system is an uncommon disease that may affect adults and the paediatric population. It can involve both the medium-large and small sized cerebral blood vessels, and can be associated with inflammatory, infectious, tumour processes, or of idiopathic origin. The case is presented of an adolescent with focal neurological impairment due to right hemiplegia, in whom other more frequent causes of cerebral ischaemia were ruled out. The final diagnosis was Epstein Barr virus associated with primary angiitis of the central nervous system.

Resultados de um programa de condicionamento físico para indivíduos com hemiplegia após acidente vascular encefálico: comparação de dois métodos de intervenção / Results of a physical fitness training for individuals with hemiplegia after stroke: Comparison of two methods of intervention

Objetivo: Comparar os resultados obtidos na força muscular de membros inferiores e capacidade funcional de pessoas com sequelas neurológicas após Acidente Vascular Encefálico, obtidos por meio de dois métodos de intervenção: uso de faixas elásticas e aparelhos de musculação. Métodos: 14 pessoas idades 58,5±9,4 (07 Grupo A; 07 Grupo B) participaram do programa de exercícios (grupo A intervenção com faixas elásticas e grupo B intervenção em aparelhos de musculação). Resultados: Houve aumento da força muscular, melhora do equilíbrio dinâmico e na capacidade funcional em sentar e levantar da cadeira para ambos os grupos. Conclusão: Exercícios físicos realizados com uso de faixas elásticas trazem benefícios para essas pessoas, tanto quanto os realizados em aparelhos de musculação.

Objective: Compare the results in lower limbs muscle strength and functional capacity in people post stroke, obtained with two intervention methods: exercise with elastic band and gym equipment. Methods: 14 individuals 58,5±9,4 age (07 group A; 07 group B), participated in a program exercises (Group A elastic band intrvention and Group B gym equipment intervention). Results: There was a increase in muscle strength, balance and functional capacity in sit and up from the chair in both groups. Conclusion: Exercises with elastic bands area benefits to people post stroke.

Resultados de um programa de exercícios físicos para indivíduos com hemiplegia pós acidente vascular encefálico / Effects physical training program for individuals with hemiplegia after stroke

Dentre as várias sequelas causadas pelo acidente vascular encefálico (AVE), destaca-se o comprometimento motor como a hemiplegia e a hemiparesia. A recuperação das sequelas neurológicas pode ocorrer de maneira espontânea, porém parte da recuperação depende de estímulo motor. Isto posto, o exercício físico é um método importante para a reabilitação e promoção da saúde em indivíduos que sofreram AVE. Objetivo: Verificar os resultados obtidos na força muscular global e em equilíbrio dinâmico, em indivíduos com hemiplegia pós AVE, que participaram de um programa de exercícios físicos. Métodos: Participaram do estudo 29 indivíduos, com média de idade de 57 anos. Foram analisados, retrospectivamente, dados dos prontuários de pacientes com diagnóstico de hemiplegia após AVE do Instituto de Medicina Física e Reabilitação do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo ­ IMREA HCFMUSP, unidade Lapa, que participaram de programa de exercícios no serviço de Condicionamento Físico da instituição no período de setembro de 2011 a julho de 2013. Resultados: Observou-se aumento significativo em força muscular (p<0,05) em todas as musculaturas envolvidas no teste de 10 RM. O maior ganho de força foi no grupo dos isquiotibiais (65,85%) e a musculatura com menor ganho de força foi tríceps braquial, com 31,34%. A média total de ganho de força foi de 45,20%. O tempo de realização dos testes Timed Up and Go (TUG) e Teste de Sentar e Levantar (TSL) foi menor ao término do programa, o que significa que os pacientes melhoraram a capacidade de realizar as mesmas funções avaliadas inicialmente. Conclusão: Este estudo mostrou que o treinamento resistido é muito importante para as pessoas com sequelas de hemiplegia pós AVE, por melhorar a capacidade funcional como o equilíbrio dinâmico, além de contribuir em suas atividades cotidianas com o aumento da força muscular global.

Among all impairment caused after stroke, the main commitment is the motor skills like hemiplegia and hemiparesis. The recovery of neurological sequel depends on motor stimulation. Physical exercise is an important method to promote health and rehabilitate stroke survivors. Objective: The aim of this study was to check results obtained in muscle strength and balance in stroke survivors who participated in a physical exercise program. Method: Was included 29 subjects with a mean age of 57 years. The data was analyzed retrospectively from the records of the patients diagnosed with hemiplegia after stroke in the Instituto de Medicina Física e Reabilitação do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo ­ IMREA HCFMUSP who participated in a physical fitness program of the institution from September 2011 to July 2013. Result: There was a significant increase in muscle strength (p <0.05) in all the muscles. The time to perform the Timed Up and Go test (TUG) and 5 repetitions sit to stand (TSL) was lower at the end of the study. Conclusion: This study showed that resistance training is very important for people with hemiplegia post stroke to improve the functional capacity as the dynamic balance and contribute in their daily activities.

Perfil epidemiológico dos pacientes com paralisia cerebral atendidos na AACD - São Paulo / Epidemiological profile of patients with cerebral palsy treated in the AACD-SP

Paralisia cerebral (PC) abrange um grupo de síndromes clínicas de causa multifatorial caracterizadas por déficit motor, algumas vezes com disfunção postural. Objetivos: Caracterizar a população dos novos pacientes da clínica de PC na instituição, de Janeiro-2012 a Dezembro-2014. Métodos: Estudo retrospectivo. Avaliados 743 prontuários eletrônicos de pacientes atendidos em consultas iniciais de PC, sendo elegíveis 614 casos. Resultados: Sexo: feminino = 47,4%, masculino = 52,6%. Idade em anos: 29,5% menores de 2; 34% de 2 a 4; 15,5% de 4 a 6; 16,3% de 6 a 12; 4,6% 12 a 18; 0,2% ≥ 18 anos. Ao nascimento 50,7% eram pré-termo e 45% termo. Peso: 9,1% classificados como extremo baixo peso, 16,8% muito baixo peso, 21,8% baixo peso, 43,6% peso adequado, 2,3% macrossômicos. Tipo de parto predominante: cesáreo (56,5%). Classificação clínica e topográfica dos pacientes: 13,4% Hemiparéticos espásticos, 33,9% Diparéticos espásticos, 12,2% Tetraparéticos espásticos, 0,5% Monoparéticos espásticos, 5,9% Discinéticos/atáxicos, 5,7% PC mista, 1% hipotônicos. Em 55,5% das famílias não recebiam auxílio doença. Sobre atendimentos especializados observou-se que para 97,7% dos pacientes tratava-se da primeira consulta com um médico Fisiatra. Conclusão: Maioria das gestantes realizaram pelo menos o número mínimo adequado de consultas de pré-natal. Parto cesariano predominou. Nascimentos pré-termo foi ligeiramente superior comparado com a termo. Tipo de PC predominou o tipo Diparético espástico, com GMFCS nas faixas de 1 a 5 equivalente. Mais da metade das famílias ainda sem acesso a benefício social.

Cerebral palsy (CP) is a group of multifactorial clinical syndromes characterized by motor deficit, sometimes with postural dysfunction. Objective: To characterize a new series of clinical CP patients in the institution from January-2012 to December-2014. Method: Retrospective study of 743 electronic medical records of patients screened at CP outpatient facilities. Results: 614 cases were considered eligible. 47.4% female and 52.6% male subjects. 29.5% were under 2 years of age, 34% were from 2 to 4, 15.5% from 4 to 6, 16.3% from 6 to 12, 4.6% from 12 to 18 and 0.2% were above 18 years of age. At birth, 50.7% were preterm and 45% term. Regarding weight, 9.1% were classified as extreme low weight, 16.8% very low weight, 21.8% low weight, 43.6% adequate weight, 2.3% macrosomic. The predominant type of delivery were cesarean section (56.5%). Regarding clinical and topographic classification, 13.4% had spastic hemiplegia, 33.9% spastic diplegia, 12.2% spastic tetraplegia, 0.5% spastic monoplegia, 5.9% Dyskinetic / ataxic, 5.7% mixed CP, and 1% were hypotonic. In 55.5% of the families they did not receive any social benefits. Regarding specialized care, for 97.7% of the patients that was the first appointment with a Physiatrist. Conclusion: Most pregnant women undertook at least the minimum number of prenatal visits. Cesarean delivery was predominant. Preterm births were slightly higher. The most prevalent type of CP was the spastic diplegic, with GMFCS ranging from 1 to 5. More than half of families did not manage to have access to social benefits.

Síndrome de Opalski / Opalski síndrome

El síndrome de Opalski es la presencia de hemiplejia ipsilateral asociada con síntomas del síndrome medular lateral. Diferentes estudios confirman que el infarto en tales casos ocurre a un nivel más bajo que el encontrado en el síndrome de Wallenberg. Se localiza debido a la presentación característica, el territorio único de suministro de sangre y el área pequeña de lesión. La implicación del tracto corticoespinal ipsilateral después de la decusación piramidal, o compresión de la decusación, podrían causarlo. Presentamos el caso de una mujer de 71 años que desarrolló hemiplejia izquierda y dificultad repentina para caminar, acompañada de diplopía, cefalea, disfagia y vómito recurrente. La imagen de resonancia magnética demostró un infarto lateral medular izquierdo. La angiografía reveló estenosis distal y proximal de la arteria vertebral izquierda e hipoplasia de la arteria vertebral derecha.

Opalski syndrome is the presence of ipsilateral hemiplegia which is associated with symptoms of a lateral medullary syndrome. Studies confirm that the infarction, in such cases, occurs at a lower level than that found in Wallenberg syndrome. This syndrome is localized because of characteristic presentation, the unique territory of blood supply and small area of lesion. The involvement of the ipsilateral corticospinal tract after the pyramidal decussation, or compression of the decussation, could cause the syndrome. We present a case of Opalski syndrome in a 71-year-old woman developed left hemiplegia and sudden difficulty for walking, accompanied by diplopia, headache, dysphagia and recurrent vomiting. Magnetic resonance image demonstrated a left lateral-medullary infarction. Angiography revealed distal and proximal stenosis of left vertebral artery and hypoplasia of right vertebral artery.

Rehabilitación cognitiva de pacientes con alteraciones perceptivas sobrevivientes a ictus isquémico / Cognitive rehabilitation of patients with perceptive disorders surviving to ischemic ictus

Se realizó una intervención terapéutica en 30 pacientes con déficit motor (hemiplejía/ hemiparesia), sobrevivientes a ictus isquémico, irrigado por la arteria cerebral media con alteraciones perceptivas (negligencia sensorial, atencional o anosognosia), atendidos en el Departamento de Rehabilitación del Hospital General Docente Dr Juan Bruno Zayas Alfonso, de Santiago de Cuba, desde enero hasta noviembre del 2016, con vistas a evaluar la efectividad del tratamiento rehabilitador. La muestra fue dividida en 2 grupos de 15 integrantes cada uno: los del grupo control recibieron tratamiento convencional; los del grupo de estudio, tratamiento convencional y terapia ocupacional asociada a rehabilitación cognitiva. Se consideraron parámetros sociodemográficos, de valoración clínica y funcional, así como de recuperación funcional global. La heminegligencia resultó ser la alteración perceptiva más frecuente (63,4 por ciento) y al finalizar el tratamiento el grupo de estudio mostró una mejor recuperación funcional (93,3 por ciento), por lo cual quedó demostrada la eficacia de la rehabilitación convencional integrada a técnicas cognitivas y terapia ocupacional

A therapeutic intervention in 30 patients with motor deficit (hemiplegia/hemiparesis), surviving to ischemic ictus, irrigated by the mean cerebral artery with perceptive disorders (sensorial or atentional negligence or anosognosia), assisted in the Rehabilitation Department of Dr Juan Bruno Zayas Alfonso Teaching General Hospital, was carried out in Santiago de Cuba, from January to November, 2016, aimed at evaluating the effectiveness of the rehabilitative treatment. The sample was divided in 2 groups of 15 members each: those of the control group received conventional treatment; those of the study group, conventional treatment and occupational therapy associated with cognitive rehabilitation. They were considered sociodemographic parameters, of clinical and functional valuation, as well as of global functional recovery. Heminegligence was the most frequent perceptive disorder (63.4 percent) and the study group showed a better functional recovery (93.3 percent) when concluding the treatment, reason why the effectiveness of the conventional rehabilitation integrated to cognitive techniques and occupational therapy was demonstrated