The effect of dyskinesia on postural control, balance, gait, and fall risk in people with Parkinson's disease: a systematic review protocol

Dyskinesia affects the limbs, trunk, and head and is more prevalent in people with Parkinson's disease (PD) and a history of falls. More evidence about the effects of dyskinesia on postural control, balance, gait, and fall risk could help improve the quality of life of individuals with PD. This review aims to examine associations between dyskinesia and postural control, balance, gait, and fall risk in individuals with PD. Such information could lead to new approaches to quality of life improvement among individuals with PD. PubMed, CINAHL, PsycInfo, Scopus, and SciELO will be searched for longitudinal, cohort, and case-control studies published in English or Portuguese in any year that investigated the association between dyskinesia and postural control, balance, gait, and fall risk in individuals with PD. Two reviewers will independently evaluate the titles, abstracts, and full texts according to PRISMA guidelines to select eligible studies for the review. Data on participants, dyskinesia, postural control, balance, gait, and fall risk will be extracted and summarized in tables. Two reviewers will independently assess the methodological quality of each study using the Newcastle Ottawa quality assessment scale. Meta-analysis will not be performed. The results of this systematic review will offer insight into the effects of dyskinesia on postural control, balance, gait, and fall risk. Such information could significantly contribute to informed decisions about early motor intervention in individuals with PD. (AU)

Chorea Hyperglycemia Basal Ganglia Syndrome: A case report of a rare diabetes complication

Introduction@#We present a patient with long-standing uncontrolled type 2 diabetes mellitus (T2 DM) who developed sudden onset of choreiform movement, which rapidly resolved after insulin therapy and haloperidol.@*Case Description@#A 53-year-old Filipino male, with T2DM and hypertension for more than 10 years, presented with sudden onset of hyperkinetic, involuntary, non-patterned, continuous movements of the left upper and lower extremities. Investigations revealed severe hyperglycemia without acidemia and ketonuria. Cranial computed tomography scan showed hyperdensity on the right caudate and lentiform nuclei. On cranial magnetic resonance imaging, there was T1- weighted hyperintense and T2 - weighted hypointense signal involving the right putamen, globus pallidus and caudate. Cranial magnetic resonance angiography showed stenosis on the cavernous segment of the right internal carotid artery (ICA), left ICA and middle cerebral artery (MCA) junction, the A1 segment of the left anterior communicating artery and proximal P2 segments of the bilateral posterior cerebral arteries. The patient was managed with a basal-bolus insulin regimen to control the blood glucose and haloperidol to manage the extrapyramidal symptoms. Consequently, there was complete resolution of the involuntary movements. @*Conclusion@#This case illustrates the importance of a systematic approach to movement disorders and early recognition of this rare diabetes complication known as chorea hyperglycemia basal ganglia syndrome or diabetic striatopathy.

Pseudo-orthostatic tremor as a manifestation of vitamin B12 deficiency: A case report

@#Vitamin B12 deficiency has long been known to present with various neurological manifestations, but only rarely presents as movement disorders, especially in adults. We present the case of a 30-year-old vegan male presenting with tremors on both legs when standing which was relieved by vitamin B12 supplementation. To the best of our knowledge, this is the first documented case of slow orthostatic tremor or pseudo-orthostatic tremor caused by vitamin B12 deficiency.

Movimiento escapular, distancia acromiohumeral, rango y fuerza rotacional glenohumeral en deportistas femeninas de handball de élite / Scapular motion, acromiohumeral distance, range and glenohumeral rotational strength in elite female handball athletes

Antecedentes: El handball es un deporte "overhead" que expone al hombro a demandas elevadas de carga durante la práctica, lo que puede llevar a esta articulación a sufrir adaptaciones específicas. La comprensión de estas adaptaciones es importante y puede ayudar a los clínicos a crear protocolos de prevención y a desarrollar programas de condicionamiento y rehabilitación para esta población. Objetivos: Generar un perfil descriptivo de:1) movimiento escapular durante la elevación y descenso de la extremidad superior en el plano escapular, 2) distancia acromiohumeral y 3) rango de movimiento y fuerza rotacional glenohumeral en deportistas femeninas de handball de élite. Métodos: Se realizo un estudio transversal observacional y descriptivo en 23 jugadoras (Edad = 22±4.3 años; Años de practica 9.7±3.5) de handball de élite, libres de dolor. Se valoró el movimiento escapular bilateral durante la elevación y el descenso del brazo, la distancia acromiohumeral durante la abducción activa y pasiva, y el rango de movimiento articular y la fuerza rotacional GH en rotación interna y externa. Se describen estas variables, comparándolas entre ambos brazos, y entre los grupos formados en función del déficit de rotación interna GH. Resultados: No se detectaron diferencias significativas en el movimiento escapular 3D ni en la distancia acromiohumeral entre los brazos. Se observó una disminución del rango de rotación interna (Diferencia Media (DM)= -11.09°; Intervalo Confianza 95% (IC)= -17.70,-4.47) y un incremento del rango de rotación externa (DM= 12.82°; IC= 6.07°,19.58°) en el hombro dominante. El torque rotacional GH en rotación externa fue mayor (DM= 0.36 Nm/kg; IC=-0.008 Nm/kg, -0.81Nm/kg) en el hombro dominante. Las participantes con déficit de rotación interna mostraron mayores rangos de rotación superior y tilt posterior escapular durante la elevación, mayor distancia acromiohumeral en reposo y mayor disminución de esta durante la elevación de la extremidad Conclusión: Los resultados sugieren que no existen diferencias en el movimiento escapular durante la elevación y descenso de la extremidad superior, ni en la distancia acromiohumeral en las diferentes posiciones de elevación GH activa y pasiva entre el brazo dominante y no dominante de las deportistas femeninas de handball de élite. Los hallazgos indican que el brazo lanzador de estas deportistas presenta diferencias en el rango rotacional y en la fuerza, que podrían representar un factor de riesgo lesional, siendo detectables en el ambiente clínico. Las deportistas que presentan GIRD, muestran mayor movimiento escapular 3D durante la elevación, mayor DAH en reposo y mayor disminución de esta durante la elevación de la ES

Background: Handball is an overhead sport that exposes the shoulder to high demands of load during the practice, which may lead this joint to sport-specific adaptions. Understanding these adaptions is important and may help clinicians to create preventive protocols and further develop conditioning and rehabilitation program to this population. Objectives: To generate a descriptive profile of:1) scapular motion during upper extremity raising and lowering along the scapular plane, 2) acromiohumeral distance, and 3) GH rotational range of motion and rotational strength in elite female handball athletes. Methods: This is observational and descriptive cross-sectional study. Twenty-three (22±4.3 years and 9.7±3.5 years of practice) pain free elite female handball players were assessed. Outcome measures included bilateral 3D scapular movement during raising and lowering of the arm, acromiohumeral distance during passive and active abduction, GH range of motion of internal and external rotation, and strength of the internal and external rotators. These variables were described by comparing them between both arms, and among the groups according to the GH internal rotation deficit. Results: No significant differences were detected in 3D scapular motion or acromiohumeral distance between the arms. A decrease in internal rotation range of motion (Mean Difference (MD) =-11.09°;95% Confidence Interval (CI)= -17.70°, -4.47°) and an increase in external rotation range of motion (MD= 12.82°; CI=6.07°, 19.58°) and in GH rotational torque in external rotation (MD=0.36 Nm/kg; CI=-0.008Nm/kg, -0.81Nm/kg) were observed in the dominant shoulder. Participants with internal rotation deficit showed greater ranges of superior rotation and scapular posterior tilt during raising, greater acromiohumeral distance at rest and greater decrease of this during limb elevation. Conclusion: The findings suggest there are no differences in in the scapular movement during upper extremity raising and lowering along the scapular plane, nor in the acromiohumeral distance during passive and active GH between the dominant and non-dominant arm of elite female handball athletes. The findings indicate that there are differences in rotational range of motion and strength between both arms, which could represent an injury risk factor, being detectable in the clinical sports environment. Participants with internal rotation deficit showed greater scapular 3D movement, greater DAH at rest and greater decrease of it during arm elevation

Nueva mutación en el gen KMT2B como causa de distonía generalizada de inicio temprano: reporte de caso / Early-onset generalized dystonia caused by a new mutation in the KMT2B gene: Case report

La distonía por mutación en el gen KMT2B es un subtipo recientemente descrito del inicio focal de la enfermedad en los miembros inferiores que, posteriormente, evoluciona a una forma generalizada con compromiso cervical y orofaríngeo, disartria, trastorno secundario de la deglución y discapacidad intelectual. Se describe el caso de una escolar de 10 años de edad, sin antecedentes de consanguinidad ni historia familiar de enfermedad neurológica, que presentó alteración de la marcha y distonía de inicio focal, de curso progresivo a una forma generalizada que afectó sus músculos orofaciales y bulbares con alteración significativa del lenguaje y la deglución. Los estudios metabólicos y sistémicos, incluidas las neuroimágenes, no evidenciaron anormalidades. Se hizo una secuenciación genómica completa y se identificó una nueva variante, probablemente patogénica heterocigota, en el gen KMT2B, la c.1205delC, p.(Pro402Hisfs*5), que causa desplazamiento en el marco de lectura. Este hallazgo explica el fenotipo de la paciente y la distonía de inicio temprano autosómica dominante. Se reporta una nueva mutación heterocigota del gen KMT2B como causa de distonía generalizada de inicio temprano, no reportada en la literatura especializada hasta el momento. El diagnóstico de esta afección tiene implicaciones en el tratamiento y el pronóstico de los pacientes, porque las estrategias terapéuticas tempranas pueden prevenir su rápido deterioro y un curso más grave de la enfermedad.

Introduction: KMT2B-related dystonia is a recently described subtype of focal-onset dystonia in the lower limbs, evolving into a generalized form with cervical, oropharyngeal involvement, dysarthria, swallowing disorder and intellectual disability. Clinical case: We describe the case of a 10-year-old female patient, without a history of consanguinity or neurological disease. She manifested abnormal gait and dystonia with focal onset and progressive course with evolution into generalized dystonia, affecting orofacial and bulbar muscles, significant alteration of language and swallowing. Metabolic and systemic studies, including neuroimaging, were found to be normal. A complete genomic sequencing study was performed identifying a new, probably pathogenic, heterozygous variant in the KMT2B gene, c.1205delC, p. (Pro402Hisfs*5), causing displacement in the reading frame, a finding that explains the patient's phenotype and it is associated to autosomal dominant childhood-onset dystonia-28. Conclusion: We report a new heterozygous mutation in the KMT2B gene as a cause of generalized early-onset dystonia not reported in the literature until the date. The diagnosis of this pathology has implications for the treatment and prognosis of patients, given that therapeutic strategies implemented early can prevent the fast deterioration and severe course of this disease.

The curious case of abdominal Dyskinesia: the Philippines’ first reported case

@#This is a case of a 7-year-old Filipino female who presented with undulating movements of the abdomen that occur only while awake, following the initiation of treatment for clinically diagnosed pulmonary tuberculosis. Systemic physical examination was normal. The neurological examination was also unremarkable. The 2-hr video EEG showed no electroencephalographic changes or ictal pattern correlating with the abdominal dyskinesia, highly suggesting a movement disorder. Craniospinal Magnetic Resonance Imaging (MRI) with Gadolinium showed typical results. The patient responded to the trial of carbamazepine after three weeks of treatment with complete resolution of abdominal dyskinesia.

Análise dos sintomas osteomioarticulares pelo uso de tecnologias portáteis em docentes de uma instituição privada / Analysis of musculoskeletal symptoms by the use of portable technologies in teachers of a private institution

As tecnologias portáteis cada vez mais estão sendo utilizadas e tornaram-se necessárias para o dia a dia da população de maneira geral, entretanto, o uso em excesso, más posturas durante o uso, padrão inadequado ergonômico, potencializado pelo sedentarismo, estresse, expõem seus usuários a riscos de desenvolver processos agudos e crônicos de dor e possíveis lesões osteomioarticulares. Objetivo: Analisar a prevalência dos sintomas osteomioarticulares pelo uso de tecnologias portáteis em docentes de uma instituição privada. Materiais e métodos: Trata-se de um estudo descritivo e observacional transversal, de caráter quantitativo, composta por uma amostra de 68 docentes do centro de ciências biológicas e da saúde na Universidade da Amazônia. As variáveis encontradas foram mensuradas e tabuladas visando eliminar erros utilizando o software microsoft excel, assim como, foram feitas análises descritas dos dados através do software bioestat. Resultados: Como resultados, foi constatado que docentes de uma instituição privada apresentam em grande maioria sintomas osteomioarticulares pelo uso de tecnologias portáteis, principalmente para a região cervical (49% dos participantes), seguido da região lombar (46% dos participantes) obtendo valores significantes para esses e demais achados(p<0,05). Conclusão: Os resultados deste estudo apresentam importância sobre vários segmentos, principalmente para os docentes, pois fornece fundamentais informações e descrições acerca do uso de tecnologias portáteis e possíveis repercussões no sistema osteomioarticular. (AU)

Portable technologies are increasingly being used and have become necessary for the daily life of the population in general, however, overuse, bad postures during use, inadequate ergonomic pattern, enhanced by sedentary lifestyle, stress, expose their users at risk of developing acute and chronic pain processes and possible musculoskeletal injuries. Objective: To analyze the prevalence of musculoskeletal symptoms through the use of portable technologies in teachers of a private institution. Materials and methods: It is a descriptive and observational cross-sectional study, of quantitative character, composed of a sample of 68 professors from the center of biological sciences and health at the University of the Amazon. The variables found were measured and tabulated in order to eliminate errors using the microsoft excel software, as well as described analyzes of the data using the bioestat software. Results: As a result, it was found that professors at a private institution mostly present musculoskeletal symptoms due to the use of portable technologies, mainly for the cervical region (49% of the participants), followed by the lumbar region (46% of the participants) obtaining significant values for these and other findings (p <0.05). Conclusion: The results of this study are important in several segments, mainly for teachers, as it provides fundamental information and descriptions about the use of portable technologies and possible repercussions on the osteomioarticular system. (AU)

Human detection and motion recovery based on monocular vision / Detecção humana e recuperação de movimento com base na visão monocular / Detección humana y recuperación de movimiento basada en visión monocular

ABSTRACT Objective: Provides interactive games and human animation real motion data and technical options. Therefore, how to complete the position, attitude detection, and motion recovery under monocular vision has become an important research direction. Methods: This paper improves the part-based human detection algorithm and uses the AdaBoost multi-instance learning algorithm to train the part detector. Results: The results show that obtaining blood pressure waveform based on monocular vision pulse wave is feasible and has generalization. Conclusions: The results show the feasibility and accuracy of the gait motion detection, motion recovery and analysis system for human lower limbs based on monocular vision. Level of evidence II; Therapeutic studies - investigation of treatment results.

RESUMO Objetivo: Fornece jogos interativos e dados de movimento real de animação humana e opções técnicas. Portanto, como completar a posição, detecção de atitude e recuperação de movimento sob visão monocular tornou-se uma importante direção de pesquisa. Métodos: este artigo aprimora o algoritmo de detecção humana baseado em partes e usa o algoritmo de aprendizado de múltiplas instâncias AdaBoost para treinar o detector de partes. Resultados: Os resultados mostram que o método de obtenção da forma de onda da pressão arterial com base na onda de pulso de visão monocular é viável e se pode generalizar. Conclusões: Os resultados mostram a viabilidade e precisão do sistema de detecção, recuperação e análise do movimento da marcha para membros inferiores humanos com base na visão monocular. Nível de evidência II; Estudos terapêuticos- investigação dos resultados do tratamento.

RESUMEN Objetivo: Proporciona juegos interactivos y animación humana, datos de movimiento real y opciones técnicas. Por lo tanto, cómo completar la posición, la detección de actitud y la recuperación de movimiento bajo visión monocular se ha convertido en una importante dirección de investigación. Métodos: este documento mejora el algoritmo de detección humana basado en piezas y utiliza el algoritmo de aprendizaje de instancias múltiples AdaBoost para entrenar el detector de piezas. Resultados: Los resultados muestran que el método de obtención de la forma de onda de la presión arterial basado en la onda de pulso de visión monocular es factible y se puede generalizar. Conclusiones: Los resultados muestran la viabilidad y precisión del sistema de detección, recuperación y análisis del movimiento de la marcha para miembros inferiores humanos basado en visión monocular. Nivel de evidencia II; Estudios terapéuticos- investigación de los resultados del tratamiento.

Movement Disorders in Brazil: the seminal contributions of Luiz Augusto Franco de Andrade and Egberto Reis Barbosa / Distúrbios dos Movimentos no Brasil: as contribuições exponenciais de Luiz Augusto Franco de Andrade e Egberto Reis Barbosa

ABSTRACT The major advances in the area of movement disorders in Brazil in recent years were driven by the work of Luiz Augusto Franco de Andrade and Egberto Reis Barbosa. This historical review describes the contributions made by these researchers, physicians, and educators to the development of this field in Brazil.

RESUMO Os maiores avanços observados na área de distúrbios do movimento nos últimos anos no Brasil teve como fator catalizador a atuação exponencial dos professores Luiz Augusto Franco de Andrade e Egberto Reis Barbosa. Esta revisão histórica enfatizou as contribuições desses pesquisadores, médicos e professores para o desenvolvimento da área no Brasil.

Acute chorea: case series from the emergency room of a Brazilian tertiary-level center / Coreia aguda: série de casos de pronto atendimento de um centro terciário brasileiro

ABSTRACT Background: Chorea is a movement disorder characterized by random, brief and migratory involuntary muscle contractions. It is defined as acute when present within hours to days. Three main causes for this scenario have emerged as most likely: vascular, toxic-metabolic and inflammatory. Objectives: To identify the prevalence of the main etiologies and major clinical findings of acute chorea in the emergency room of a tertiary-level referral center; and to suggest an approach for guiding the diagnostic workup and clinical management. Methods: We retrospectively reviewed the clinical aspects and neuroimaging data of 10 patients presenting with acute chorea at the neurological emergency room of our hospital from 2015 to 2019. Results: Stroke was the most common etiology (50% of the cases). All of them were ischemic. It was noteworthy that only one case demonstrated the classical ischemic topographic lesion at the contralateral subthalamic nuclei. Regarding nonvascular etiologies, nonketotic hyperglycemia was the major cause, followed by drug-related chorea. One patient showed inflammatory etiology, which was probably Sydenham chorea reactivation. Conclusion: Acute chorea is an uncommon and challenging problem at the emergency room, often associated with potentially treatable causes. We suggest that use of the acronym DANCE (Diagnosis of chorea, Acute stroke protocol, Normal glucose levels, Check neuroimaging, Exposure to drugs) could form a potential initial approach in the evaluation, in order to emphasize causes that require prompt proper management (e.g. thrombolysis).

RESUMO Introdução: Coreia é um distúrbio do movimento caracterizado por contrações musculares caóticas, migratórias, aleatórias e involuntárias. Usualmente, define-se como coreia aguda quando presente dentro de horas a dias. Neste cenário, três causas emergem como as mais comuns: vascular, tóxico-metabólica e inflamatória. Objetivos: O objetivo deste estudo foi identificar a prevalência das principais etiologias e os principais achados clínicos de coreia aguda na sala de emergência de um centro de referência terciário, a fim de sugerir uma abordagem para orientar a investigação diagnóstica e o manejo na emergência. Métodos: Revisamos retrospectivamente os dados clínicos e de neuroimagem, de 2015 a 2019, de 10 pacientes com coreia aguda na sala de emergência neurológica de um hospital terciário. Resultados: A etiologia mais comum foi o acidente vascular cerebral (AVC) (50% dos casos). Todos os AVCs foram isquêmicos e apenas um se apresentou como isquemia clássica do núcleo subtalâmico contralateral. Em relação às causas não vasculares, a hiperglicemia não cetótica demonstrou ser a principal, seguida pela coreia relacionada a medicamentos. Um paciente apresentou etiologia inflamatória, por provável reativação da coreia de Sydenham. Conclusão: A coreia aguda é um problema incomum e desafiador na sala de emergência, muitas vezes associado a causas potencialmente tratáveis. Nós sugerimos o acrônimo DANCE (Diagnosis of chorea, Acute stroke protocol, Normal glucose levels, Check neuroimaging, Exposure to drugs) para auxiliar na abordagem como primeiro passo na sala de emergência, a fim de enfatizar causas que requerem tratamento imediato e adequado (por exemplo, trombólise).

Outcomes of Corrective Surgery in Children with Foot Deformities Using Quantitative Gait Analysis

@#OBJECTIVE: This study aimed to quantitatively define outcomes of corrective surgery in children with various foot deformities. METHODS: We used a retrospective, nonrandomized design. All pediatric patients who underwent pre and post-operative gait analysis and corrective surgery were included. Outcome measures included quantitative gait analysis with temporospatial and kinematic parameters, the Gait Deviation Index, Gillette FAQ, and Hoffer’s criteria. RESULTS:. Five patients with neurogenic and idiopathic deformities underwent corrective surgery at the Philippine General Hospital from 2015 to 2017. Comparison of gait pre and postoperatively show promising outcomes, with improvement in GDI and FAQ levels, despite some of the patients’ need for braces. CONCLUSIONS: Quantitative gait analysis is a suitable method for evaluating surgical outcomes for foot deformity correction. It can be used in combination with functional outcome measures and clinical examination to give an overall picture of a patient’s walking ability.

Botulinum toxin treatment practice recommendations for movement disorders clinics during the COVID-19 pandemic

Background@#Due to the Coronavirus disease 2019 (COVID-19) pandemic, non-emergency services like botulinum toxin A (BoNT) injections were temporarily discontinued. @*Objective@#We aimed to create standard practices that optimize the management of patients needing BoNT injections while ensuring both patients' and healthcare professionals' safety. @*Methods@#We evaluated published guidelines and best practices to determine their applicability for BoNT injection during this pandemic. We then devised a decision tree algorithm for use in our hospital. @*Results@#A decision tree algorithm has been formulated based on patient evaluation and risk stratification, triaging, the urgency of the procedure, and proper precautions on personal protective wear as appropriate for the procedure’s risk stratification. @*Conclusion@#The algorithm is in place to ensure the safety of both the patient and healthcare professional. It can be adopted and revised by other centers to suit their clinic needs.

How can neurophysiological studies help with movement disorders characterization in clinical practice? A review / Como os exames neurofisiológicos podem ajudar na caracterização dos transtornos do movimento na prática clínica? Uma revisão

ABSTRACT Background: Neurophysiological studies are ancillary tools to better understand the features and nature of movement disorders. Electromyography (EMG), together with electroencephalography (EEG) and accelerometer, can be used to evaluate a hypo and hyperkinetic spectrum of movements. Specific techniques can be applied to better characterize the phenomenology, help distinguish functional from organic origin and assess the most probable site of the movement generator in the nervous system. Objective: We intend to provide an update for clinicians on helpful neurophysiological tools to assess movement disorders in clinical practice. Methods: Non-systematic review of the literature published up to June 2019. Results: A diversity of protocols was found and described. These include EMG analyses to define dystonia, myoclonus, myokymia, myorhythmia, and painful legs moving toes pattern; EMG in combination with accelerometer to study tremor; and EEG-EMG to study myoclonus. Also, indirect measures of cortical and brainstem excitability help to describe and diagnose abnormal physiology in Parkinson's disease, atypical parkinsonism, dystonia, and myoclonus. Conclusion: These studies can be helpful for the diagnosis and are usually underutilized in neurological practice.

RESUMO Introdução: Os estudos neurofisiológicos são métodos auxiliares para compreender melhor as características e a natureza dos distúrbios do movimento. A eletromiografia (EMG), em associação com o eletroencefalograma (EEG) e o acelerômetro, podem ser utilizados para avaliar um espectro de movimentos hipo e hipercinéticos. Técnicas específicas podem ser aplicadas para melhor caracterizar a fenomenologia, ajudar a distinguir a origem psicogênica da orgânica e avaliar o local mais provável de geração do movimento no sistema nervoso. Objetivo: Pretendemos fornecer ao clínico uma atualização sobre ferramentas neurofisiológicas úteis para avaliar distúrbios do movimento na prática clínica. Métodos: Revisão não sistemática da literatura publicada até junho de 2019. Resultados: Uma diversidade de protocolos foi encontrada e descrita. Dentre eles, inclui-se o uso de EMG para a definição do padrão de distonia, mioclonia, mioquimia, miorritmia e painfull legs moving toes, além do uso de EMG em associação ao acelerômetro para avaliar tremor e, em associação ao EEG para avaliar mioclonia. Ademais, técnicas para medida indireta de excitabilidade cortical e do tronco encefálico ajudam a descrever e diagnosticar a fisiologia anormal da doença de Parkinson, parkinsonismo atípico, distonia e mioclonia. Conclusão: Esses estudos podem ser úteis para o diagnóstico e geralmente são subutilizados na prática neurológica.

Variabilidad fenotípica del déficit de GLUT1: ¿Cuándo es necesario sospechar? / Phenotypic variability of GLUT1 deficiency: when is necessary to suspect?

Resumen: Introducción: La deficiencia del transportador de glucosa tipo 1 constituye un síndrome (SD-GLUT1), provocado por la mutación del gen SLC2A1, que codifica la proteína transportadora de glucosa al encéfalo. Las manifestaciones neurológicas se dan en tres dominios principales: crisis epilépticas, movimientos anormales y alteraciones cognitivas. El diagnóstico se presume ante el hallazgo de hipoglucorraquia y se confirma mediante el análisis molecular del gen. La importancia de precisarlo radica en que tiene tratamiento específico, la dieta cetogénica. Objetivo: Analizar dos casos clínicos de SD-GLUT1 de presentación atípica, destacando la variabilidad del fenotipo. Caso Clínico: Presentamos el caso de dos hermanos cuyas manifestaciones fueron crisis epilépticas de tipo ausencias típicas, y un trastorno paroxístico del movimiento. Los pacientes fueron estudiados encontrándose hipoglucorraquia en ambos y se confirmó diagnóstico de SD-GLUT1 con estudio molecular. El tratamiento específico con dieta cetogénica logró buena respuesta. Conclusiones: Exponemos sus características clínicas peculiares que nos permitieron sospechar este cuadro, de espectro fenotípico amplio, cuyo diagnós tico y tratamiento, correcto y oportuno, puede mejorar significativamente la calidad de vida de los afectados.

Abstract: Introduction: Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS) is caused by the SLC2A1 gene muta tion, which encodes the glucose transporter proteins to the brain Neurological manifestations occur in three main domains: seizures, abnormal movements, and cognitive disorders. The diagnosis is presumed upon the finding of low CSF glucose and confirmed by the gene molecular analysis. Ac curate diagnosis is important because it has a specific treatment, which is ketogenic diet. Objective: To analyze two SD-GLUT1 pediatric patients with unusual phenotype. Clinical Case: We present the case of two siblings who presented absence seizures and a paroxysmal movement disorder. Both patients were studied, finding low CSF glucose. The diagnosis of GLUT1-DS was confirmed with molecular analysis. Specific treatment with ketogenic diet achieved good response in both cases. Con clusions: We present their peculiar clinical characteristics that allowed us to suspect this wide phe notypic spectrum. Correct and timely diagnosis and treatment can significantly improve the quality of life of those affected.

Trastorno paroxístico no epiléptico en paciente referido por sospecha de epilepsia / Paroxysmal non-epileptic events in patients referred for suspicion of epilepsy

Los Trastornos Paroxísticos No Epilépticos (TPNE), son diagnóstico diferencial de crisis epilépticas. En Chile no existen reportes de frecuencia. OBJETIVO: Determinar frecuencia de TPNE en pacientes derivados por sospecha de epilepsia a Unidad de Electroencefalografía, Hospital Roberto del Río. METODOLOGÍA: Estudio observacional, transversal. Se revisó registros clínicos de pacientes derivados por sospecha de epilepsia(2012- 2014). Inclusión: paciente con TPNE, >1 mes, sin epilepsia previa. Caracterización: sexo, edad, tipo/subtipo TPNE, comorbilidades, electroencefalograma (EEG), uso fármaco antiepiléptico (FAE). Aprobado por comité de ética. RESULTADOS: Derivados 913 pacientes por sospecha de epilepsia. 36% TPNE (2,3% con epilepsia concomitante), 22% epilepsia aislada. TPNE más frecuente: escolares (31%), adolescentes (29%), femenino (52%). 30,1% hipoxia cerebral (síncope, Espasmo Sollozo); 22,4% trastornos del comportamiento (Descontrol Episódico, Crisis Psicógena no Epiléptica). 32,8% con comorbilidades no epilépticas (Trastornos psiquiátricos/neurodesarrollo). 4,3 % recibieron FAE. CONCLUSIONES: La frecuencia de TPNE en niños/adolescentes supera a la de epilepsia. Es fundamental evaluación multidisciplinaria.

Paroxysmal non-epileptic events (PNE) are differential diagnosis of epileptic seizures. In Chile, there are no reports on its frequency. OBJECTIVE: To determine the frequency of PNE in patients referred for suspicion of epilepsy to the Electroencephalography Unit of Roberto del Río Hospital. METHODOLOGY: Observational, cross-sectional study. Clinical records of patients referred for suspicion of epilepsy (2012-2014) were reviewed. Inclusion: Patient with PNE, >1 month, without previous epilepsy. Characterization: gender, age, PNE type/subtype, comorbidities, electroencephalogram, use of antiepileptic drug (AED). Approved by the ethics committee. RESULTS: 913 patients were referred for suspected epilepsy: 36% PNE (2,3% with concomitant epilepsy), 22% isolated epilepsy. PNE were more frequent in children (31%) adolescents (29%), and in females (52%). 30.1% Cerebral hypoxia (syncope, breathholding-spells); 22,4% Behavioral disorders (Episodic loss of control, Non-Epileptic Psychogenic Seizures). 32.8% non-epileptic comorbidities (Psychiatric/ neurodevelopmental disorders). 4.3% received AEDs. CONCLUSIONS: The frequency of PNE in children and adolescents exceeds that of epilepsy. A multidisciplinary medical evaluation is of the outmost importance. Keywords: Paroxysmal Non-Epileptic Disorder, Non-epileptic episodes, Epilepsy.

Functional movement disorders in children and adolescents / 中国当代儿科杂志

Functional movement disorders (FMDs), also known as psychogenic movement disorders (PMDs), should be considered a biological-psychological-social disease like other functional neurological diseases. It is not merely a psychological or mental disease. The etiology of FMDs includes neurobiological changes, such as abnormal patterns of cerebral activation and abnormal connectivity between the limbic system and the motor networks. Inheritance and epigenetic machinery, such as DNA methylation and changes in grey and white matter morphology, may influence the development of FMDs. FMDs are not rare in the outpatient service of pediatrics and are one of the most challenging movement disorders due to complex and diversified clinical manifestations. Due to a lack of clinical knowledge and unified diagnostic criteria, it is difficult for pediatricians to make a correct diagnosis of FMDs, which may be easily confused with other diseases. Pediatricians should pay more attention to children with FMDs and establish a multidisciplinary team with psychiatrists, specialists in developmental behavior, and physiotherapists, so as to provide active management and treatment for such children.

Full mouth rehabilitation using removable prosthesis of patient with unstable mandible movements: A case report / 대한치과보철학회지

Patients with collapsed occlusal support and unilateral chewing show parafunctional mandibular movements, which can be complicated in older patients. Gothic arch tracing and split cast technique are used to confirm the deviation between centric relation and anterior habitual bite in patient who has oral dyskinesia and collapsed occlusion. Temporary denture as occlusal stabilization appliance was provided for stable occlusion and reproducible mandibular movement. Definitive denture was fabricated by lingualized occlusion concept.

Encefalopatía epiléptica infantil en un paciente colombiano con una variante patogénica de novo en el gen STXBP1 / Infantile epileptic encephalopathy in a colombian child with a pathogenic de novo STXBP1STXBP1gene variant

El desarrollo de los estudios moleculares ha permitido identificar la etiología genética de diversas enfermedades como las encefalopatías epilépticas infantiles, las cuales se han asociado con variantes patogénicas en diferentes genes, entre ellos el STXBP1. La encefalopatía con epilepsia STXBP1 es una enfermedad genética con un patrón de herencia autosómico dominante, donde están alterados los mecanismos reguladores de la liberación de neurotransmisores por parte de las vesículas sinápticas, con alteración del neurodesarrollo. La edad de presentación del trastorno es temprano, con convulsiones en los primeros dos meses de vida. Los pacientes presentan dificultades en la alimentación, trastornos del movimiento y alteración del espectro autista. En este artículo presentamos el caso clínico de un paciente colombiano con encefalopatía epiléptica STXBP1 revisando los aspectos clínicos de la enfermedad, dirigido a profesionales de la salud para sensibilizarlos y así lograr el diagnóstico temprano. Esta es la primera publicación en el país de un paciente con esta etiología

The development of molecular studies has allowed identifying the genetic cause of various diseases such as infantile epileptic encephalopathy. Several pathogenic variants of different genes have been implicated including the STXBP1 gene. STXBP1 encephalopathy with epilepsy is inherited in an autosomal dominant pattern with disrupted liberation of regulatory mechanisms of neurotransmitters in the synaptic vesicles associated with neurodevelopmental impairments. This condition is characterized by early onset with seizures in the first two months of life. Affected patients may have eating problems, movement disorders and autism spectrum disorders. Herein we present a case of a Colombian infant with STXBP1 encephalopathy with epilepsy. We describe the clinical aspects of the disease to sensitize health care professionals for them to identify this condition and achieve an early diagnosis. This is the first publication in Colombia on a patient featuring this type of etiology.