ABSTRACT
@#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.
Subject(s)
Vitamin B 12 Deficiency , Vitamin B 12 , Vegans , Movement Disorders , Tremor , ElectromyographyABSTRACT
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.
Subject(s)
Dystonia , Genetic Diseases, Inborn , Dystonic Disorders , Deep Brain Stimulation , Intellectual Disability , Movement DisordersABSTRACT
@#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.
Subject(s)
Neurology , Movement DisordersABSTRACT
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)
Subject(s)
Humans , Male , Female , Adult , Pain , Posture , Cervical Vertebrae , Musculoskeletal Diseases , Faculty , Movement Disorders , Shoulder , Spine , Stress, Physiological , Universities , Computers , Cross-Sectional Studies , Lower Extremity , Cell Phone , Computers, Handheld , NeckABSTRACT
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.
Subject(s)
Humans , Vision, Monocular , Motion Perception , Movement Disorders/rehabilitation , Pattern Recognition, Visual/physiology , Photic Stimulation/methods , AlgorithmsSubject(s)
Humans , Male , Female , Aged , Aged, 80 and over , Aged/statistics & numerical data , Cognition Disorders/epidemiology , Polypharmacy , Geriatric Assessment , Cognition Disorders/prevention & control , Drug-Related Side Effects and Adverse Reactions/diagnosis , Education, Medical , Inappropriate Prescribing/adverse effects , Movement Disorders/diagnosisABSTRACT
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.
Subject(s)
Humans , Physicians , Movement Disorders , BrazilABSTRACT
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).
Subject(s)
Humans , Chorea/diagnosis , Chorea/etiology , Movement Disorders , Brazil , Retrospective Studies , Emergency Service, HospitalABSTRACT
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.
Subject(s)
Movement Disorders , COVID-19 , Botulinum Toxins , Therapeutics , PandemicsABSTRACT
@#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.
Subject(s)
Gait Analysis , Clubfoot , Gait , Movement DisordersABSTRACT
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.
Subject(s)
Humans , Dystonia , Movement Disorders/diagnosis , Myoclonus/diagnosis , Tremor/diagnosis , Electroencephalography , Electromyography , NeurophysiologyABSTRACT
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.
Subject(s)
Humans , Male , Female , Child, Preschool , Phenotype , Seizures/etiology , Monosaccharide Transport Proteins/deficiency , Carbohydrate Metabolism, Inborn Errors/diagnosis , Movement Disorders/etiology , Carbohydrate Metabolism, Inborn Errors/complicationsABSTRACT
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.
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Epilepsy/diagnosis , Epilepsy/epidemiology , Nervous System Diseases/diagnosis , Nervous System Diseases/epidemiology , Sleep Wake Disorders , Cross-Sectional Studies , Sex Distribution , Migraine without Aura , Diagnosis, Differential , Electroencephalography , Mental Disorders , Movement Disorders/diagnosis , Movement Disorders/epidemiology , Nervous System Diseases/classificationABSTRACT
RESUMO Objetivo Este estudo visou validar o Protocolo de Avaliação Miofuncional Orofacial MBGR para adultos com DTM. Método Participaram 30 adultos, sendo 15 com DTM (deslocamento de disco com redução segundo o Research Diagnostic Criteria for Temporomandibular Disorders) e 15 Controles. O processo de validação envolveu a validade de conteúdo, de critério e de construto, além da concordância inter e intra-avaliador, sensibilidade e especificidade. Considerou-se nível de significância de 5%. Resultados Foram confirmadas as validades de conteúdo, visto que o Protocolo MBGR abarca todas as questões funcionais presentes em indivíduos com DTM; de critério, com correlações significantes entre o MBGR e AMIOFE; e de construto, diferenciando indivíduos com e sem DMO quanto à dor à palpação e mobilidade mandibular, com correlação significante entre a avaliação clínica do MBGR e o uso do algômetro digital, bem como confirmação do exame instrumental para a classificação do modo respiratório. A força de concordância variou de pobre a muito boa para a análise interavaliador e de razoável a muito boa para intra-avaliador. Os valores de sensibilidade e especificidade foram elevados. Conclusão O Protocolo MBGR mostrou-se válido para aplicação em adultos com DTM com deslocamento de disco com redução e controles, contemplando todos os aspectos que possibilitam a análise das condições oromiofuncionais nesses indivíduos.
ABSTRACT Purpose This study aimed at validating the MBGR Orofacial Myofunctional Assessment Protocol (MBGR Protocol) for adults with Temporal Mandibular Disorders (TMD). Methods The study sample was composed of 30 adults: 15 with TMD (disc displacement with reduction according to the Research Diagnostic Criteria for Temporomandibular Disorders) and 15 control individuals. The validation process encompassed the content, criterion, and construct of the protocol, as well as its inter- and intra-rater agreement levels and sensitivity and specificity values, considering a 5% statistical significance level. Results The following validities were confirmed: of content, as the MBGR Protocol covers all functional issues present in patients with TMD; of criterion, with significant correlations between the MBGR and Orofacial Myofunctional Evaluation with Scores (OMES) protocols; of construct, differentiating individuals with and without Orofacial Myofunctional Disorders (OMD) as for pain on palpation and mandible range of motion, with significant correlation between the MBGR clinical evaluation and that using a digital algometer, as well as confirmation of the instrumental assessment for the breathing mode classification. Agreement ranged from poor to very good and from reasonable to very good for the inter- and intra-rater power analyses, respectively. High sensitivity and specificity values were observed. Conclusion The MBGR Protocol proved to be valid for use in adults presented with TMD with disc displacement with reduction and controls, covering all aspects that enable the analysis of OMD in these individuals.
Subject(s)
Humans , Male , Female , Adolescent , Adult , Young Adult , Deglutition Disorders/diagnosis , Temporomandibular Joint Disorders/diagnosis , Mass Screening/instrumentation , Facial Muscles/physiopathology , Mandible/physiopathology , Pain Measurement , Deglutition Disorders/physiopathology , Temporomandibular Joint Disorders/physiopathology , Case-Control Studies , Mass Screening/statistics & numerical data , Sensitivity and Specificity , Movement Disorders/diagnosis , Movement Disorders/physiopathologyABSTRACT
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.
Subject(s)
Humans , Male , Adolescent , Brain Diseases , Seizures , Delivery of Health Care , Epilepsy , Autism Spectrum Disorder , Genetics , Mental Disorders , Movement DisordersABSTRACT
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.
Subject(s)
Humans , Centric Relation , Dentures , Mandible , Mastication , Mouth Rehabilitation , Mouth , Movement Disorders , Prostheses and ImplantsABSTRACT
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.
Subject(s)
Adolescent , Child , Humans , Movement DisordersABSTRACT
Abstract Takotsubo myocardiopathy, known as broken-heart syndrome due to its relationship with stressful situations, is characterized by causing symptoms which are suggestive of myocardial infarction, in the context of temporary left ventricular systolic dysfunction, with no angiographic evidence of ob structive coronary artery disease. It is much more common in older adults, predominantly in women. It is diagnosed by clinical, echocardiographic and angiographic findings. Treatment is eminently medical, generally associated with spontaneous and progressive recovery of the left ventricular systolic function. However, when the clinical presentation simulates an acute myocardial infarction in a setting where angiography is not available, there must be a clear therapeutic decision, without underestimating that a confirmed diagnosis, depending on the patient's ventricular function and/or comorbidities, may trigger cardiogenic shock and be fatal. A case of Takotsubo myocardiopathy is described, along with its management and follow-up. (Acta Med Colomb 2019; 44. DOI:https://doi.org/10.36104/aamc.2019.1314).
Resumen La miocardiopatía de Takotsubo, conocida como síndrome del corazón roto por su relación con situaciones de estrés; se caracteriza por ocasionar síntomas sugestivos de infarto de miocardio en contexto de una disfunción sistólica temporal del ventrículo izquierdo sin demostración angiográfica de enfermedad arterial coronaria obstructiva. Es mucho más común en adultos mayores predominantemente mujeres. El diagnóstico se hace mediante hallazgos clínicos, ecocardiográficos y angiográficos. El tratamiento es eminentemente médico, generalmente relacionado con la recuperación espontánea y progresiva de la función sistólica del ventrículo izquierdo; sin embargo, el escenario de su presentación clínica que simula un infarto agudo de miocardio en un ambiente sin la disponibilidad de angiografía requiere tener claro decisión terapéutica sin desestimar que confirmado el diagnostico de acuerdo al compromiso de la función ventricular y/o comorbilidades del paciente puede desencadenar shock cardiogénico y ser fatal. Se describe un caso de miocardiopatía de Takotsubo su manejo y seguimiento. (Acta Med Colomb 2019; 44. DOI:https://doi.org/10.36104/aamc.2019.1314).
Subject(s)
Humans , Female , Middle Aged , Takotsubo Cardiomyopathy , Movement Disorders , CardiomyopathiesABSTRACT
Modelo do estudo: Relato de caso. Importância do problema e comentários: A discinesia paroxística não cinesiogênica é um tipo de discinesia paroxística. É caracterizada por movimentos involuntários unilaterais ou bilaterais, do tipo coreico, distônico, balístico ou misto. É uma desordem rara e o diagnóstico precoce é crucial para seu tratamento e melhoria na qualidade de vida do indivíduo. O presente estudo relata um caso de Discinesia Paroxística Não Cinesiogênica e seus achados clínicos, além de apresentar breve revisão da literatura (AU)
Study type: Case report. Relevance and comments: Paroxysmal non-kinesigenic dyskinesia is a type of paroxysmal dyskinesia. It is characterized by involuntary unilateral or bilateral movements, of the choreic, dystonic, ballistic or mixed type. It is a rare disorder and the early diagnosis is crucial for the treatment and improvement of the individual's quality of life. The present report illustrates a case of paroxysmal non-kinesigenic dyskinesia and clinical findings, as well as a brief review of the literature (AU)