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1.
Rev. bras. med. esporte ; 27(4): 419-424, Aug. 2021. tab, graf
Article in English | LILACS | ID: biblio-1288607

ABSTRACT

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 , Algorithms
2.
Arq. neuropsiquiatr ; 79(5): 460-462, May 2021. graf
Article in English | LILACS | ID: biblio-1278406

ABSTRACT

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 , Brazil
3.
Arq. neuropsiquiatr ; 79(3): 233-237, Mar. 2021. tab, graf
Article in English | LILACS | ID: biblio-1285348

ABSTRACT

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, Hospital
4.
Acta Medica Philippina ; : 322-327, 2021.
Article in English | WPRIM | ID: wpr-886406

ABSTRACT

@#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 Disorders
5.
Arq. neuropsiquiatr ; 78(8): 512-522, Aug. 2020. tab, graf
Article in English | LILACS | ID: biblio-1131740

ABSTRACT

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 , Neurophysiology
6.
Rev. chil. pediatr ; 91(2): 260-264, abr. 2020. tab
Article in Spanish | LILACS | ID: biblio-1098901

ABSTRACT

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/complications
7.
CoDAS ; 32(4): e20190132, 2020. tab
Article in Portuguese | LILACS | ID: biblio-1101097

ABSTRACT

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/physiopathology
8.
Repert. med. cir ; 29(3): 192-197, 2020. Ilus.
Article in English, Spanish | LILACS, COLNAL | ID: biblio-1255378

ABSTRACT

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 Disorders
9.
Article in Korean | WPRIM | ID: wpr-786594

ABSTRACT

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)
Centric Relation , Dentures , Humans , Mandible , Mastication , Mouth Rehabilitation , Mouth , Movement Disorders , Prostheses and Implants
10.
Article in Chinese | WPRIM | ID: wpr-828711

ABSTRACT

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 Disorders
11.
Acta méd. colomb ; 44(4): 45-49, Oct.-Dec. 2019. graf
Article in English | LILACS, COLNAL | ID: biblio-1124061

ABSTRACT

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 , Cardiomyopathies
12.
Geriatr., Gerontol. Aging (Impr.) ; 13(2): 118-120, abr-jun.2019. ilus
Article in Portuguese | LILACS | ID: biblio-1096825

ABSTRACT

O diabetes e suas complicações constituem as principais causas de mortalidade precoce na maioria dos países. O envelhecimento da população e a crescente prevalência da obesidade e do sedentarismo, além dos processos de urbanização, são considerados os principais fatores responsáveis pelo aumento da incidência e da prevalência do diabetes mellitus (DM) em todo o mundo. Este relato de caso objetiva descrever a presença de distúrbio do movimento em idoso por conta do estado hiperosmolar não cetótico. A combinação de hemicoreia-hemibalismo, hiperglicemia não cetótica e envolvimento dos gânglios da base em exames de imagem é considerada uma síndrome única. Os distúrbios do movimento em estado hiperosmolar não cetótico apresentam resposta terapêutica satisfatória com o uso de neurolépticos e controle glicêmico adequado. A escassez de trabalhos publicados proporciona subdiagnósticos clínico e laboratorial, interferindo no prognóstico e no acompanhamento dos pacientes.


Diabetes mellitus (DM) and its complications constitute the leading causes of early mortality in most countries. Population aging and the growing prevalence of obesity and sedentary lifestyles, in addition to spreading urbanization, are considered the main drivers of the increasing incidence and prevalence of DM worldwide. This case report describes the acute onset of movement disorder in an older woman secondary to hyperosmolar hyperglycemic state (HHS). The combination of hemichorea­hemiballismus, HHS, and evidence of basal ganglia involvement on neuroimaging is considered a unique syndrome. Movement disorders secondary to HHS respond satisfactorily to administration of neuroleptic agents and proper glycemic control. The lack of published studies on this pathologic entity may lead to clinical and laboratory underdiagnosis, with negative impacts on patient prognosis and follow-up.


Subject(s)
Humans , Female , Aged , Chorea/drug therapy , Chorea/diagnostic imaging , Hyperglycinemia, Nonketotic/complications , Dyskinesias/drug therapy , Dyskinesias/diagnostic imaging , Diabetes Complications , Psychotropic Drugs/therapeutic use , Diabetes Mellitus/physiopathology , Hypoglycemic Agents , Movement Disorders/diagnosis
13.
Medicina (Ribeiräo Preto) ; 52(2)abr.-jun., 2019.
Article in Portuguese | LILACS | ID: biblio-1025290

ABSTRACT

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)


Subject(s)
Humans , Male , Child, Preschool , Caffeine , Clinical Diagnosis , Chorea , Dyskinesias , Movement Disorders , Anticonvulsants
15.
Article in English | WPRIM | ID: wpr-760226

ABSTRACT

PURPOSE: The major side effects of treatment with oxcarbazepine (OXC) are skin rash and hyponatremia. Hematologic side effects are reported rarely. The aim of this study was to investigate the rate and types of the hematologic side effects of OXC. METHODS: The medical records of 184 patients diagnosed with epilepsy or movement disorder and on OXC monotherapy, at the Department of Pediatrics of Inje University Sanggye Paik Hospital from July 2001 to July 2018, were retrospectively reviewed. RESULTS: Of the 184 patients, 10 (5.4%) developed leukopenia in addition to pancytopenia and 2 (1.0%) developed pancytopenia. Leukopenia developed in 11 days to 14 years after OXC administration and was more frequent in males than in females (male vs. female, 9 vs. 1; Fisher exact test, P0.05, t-test). CONCLUSION: OXC-induced leukopenia is not rare and may result in pancytopenia. Patients being treated with OXC should be regularly monitored for abnormal complete blood count profiles.


Subject(s)
Blood Cell Count , Epilepsy , Exanthema , Female , Humans , Hyponatremia , Leukopenia , Lost to Follow-Up , Male , Medical Records , Movement Disorders , Pancytopenia , Pediatrics , Retrospective Studies
16.
Yonsei Medical Journal ; : 1209-1215, 2019.
Article in English | WPRIM | ID: wpr-762062

ABSTRACT

GLUT1 deficiency is a rare neurometabolic disorder that can be effectively treated with ketogenic diet. However, this condition is underdiagnosed due to its nonspecific, overlapping, and evolving symptoms with age. We retrospectively reviewed the clinical course of nine patients diagnosed with GLUT1 deficiency, based on SLC2A1 mutations and/or glucose concentration in cerebrospinal fluid. The patients included eight boys and one girl who initially presented with seizures (44%, 4/9) or delayed development (44%, 4/9) before 2 years of age, except for one patient who presented with apnea as a neonate. Over the clinical course, all of the children developed seizures of the mixed type, including absence seizures and generalized tonic–clonic seizures. About half (56%, 5/9) showed movement disorders such as ataxia, dystonia, or dyskinesia. We observed an evolution of phenotype over time, although this was not uniform across all patients. Only one child had microcephaly. In five patients, ketogenic diet was effective in reducing seizures and movement symptoms, and the patients exhibited subjective improvement in cognitive function. Diagnosing GLUT1 deficiency can be challenging due to the phenotypic variability and evolution. A high index of clinical suspicion in pediatric and even older patients with epilepsy or movement disorders is key to the early diagnosis and treatment, which can improve the patient's quality of life.


Subject(s)
Apnea , Ataxia , Cerebrospinal Fluid , Child , Clothing , Cognition , Dyskinesias , Dystonia , Early Diagnosis , Epilepsy , Epilepsy, Absence , Female , Glucose , Humans , Infant, Newborn , Diet, Ketogenic , Microcephaly , Movement Disorders , Phenotype , Quality of Life , Retrospective Studies , Seizures
17.
Article in Korean | WPRIM | ID: wpr-766798

ABSTRACT

Tremor is one of the most common movement disorders. The classification of tremor disorders was originally proposed in 1998, but subsequent advances have highlighted the limitations of the original criteria. A task force on tremor was convened by the International Parkinson and Movement Disorders Society to review the previous criteria and to develop a revised classification scheme that will allow a more-comprehensive phenotype, thereby facilitating the discovery of specific etiologies. In this review we provide an overview of how to classify tremor disorders according to the new classification of tremors.


Subject(s)
Advisory Committees , Classification , Movement Disorders , Phenotype , Tremor
18.
Article in Korean | WPRIM | ID: wpr-766779

ABSTRACT

Intracranial hypotension usually arises in the context of known or suspected leak of cerebrospinal fluid (CSF). This leakage leads to a fall in intracranial CSF pressure and CSF volume. The most common clinical manifestation of intracranial hypotension is orthostatic headache. Post-dural puncture headache and CSF fistula headache are classified along with headache attributed to spontaneous intracranial hypotension as headache attributed to low CSF pressure by the International Classification of Headache Disorders. Headache attributed to low CSF pressure is usually but not always orthostatic. The orthostatic features at its onset can become less prominent over time. Other manifestations of intracranial hypotension are nausea, spine pain, neck stiffness, photophobia, hearing abnormalities, tinnitus, dizziness, gait unsteadiness, cognitive and mental status changes, movement disorders and upper extremity radicular symptoms. There are two presumed pathophysiologic mechanisms behind the development of various manifestations of intracranial hypotension. Firstly, CSF loss leads to downward shift of the brain causing traction on the anchoring and supporting structures of the brain. Secondly, CSF loss results in compensatory meningeal venodilation. Headaches presenting acutely after an intervention or trauma that is known to cause CSF leakage are easy to diagnose. However, a high degree of suspicion is required to make the diagnosis of spontaneous intracranial hypotension and understanding various neurological symptoms of intracranial hypotension may help clinicians.


Subject(s)
Brain , Cerebrospinal Fluid , Cerebrospinal Fluid Leak , Classification , Diagnosis , Dizziness , Fistula , Gait , Headache , Headache Disorders , Hearing , Intracranial Hypotension , Movement Disorders , Nausea , Neck Pain , Photophobia , Post-Dural Puncture Headache , Spine , Tinnitus , Traction , Upper Extremity , Ventriculoperitoneal Shunt
19.
Experimental Neurobiology ; : 504-515, 2019.
Article in English | WPRIM | ID: wpr-763777

ABSTRACT

Parkinson’s disease (PD) is one of the late-onset neurodegenerative movement disorder. Major pathological markers of PD include progressive loss of dopaminergic neurons, Lewy body formation, genetic mutations, and environmental factors. Epigenetic regulation of specific gene expression via impaired histone acetylation is associated with neuronal dysfunction in various neurodegenerative diseases. In this study, we hypothesized that histone deacetylase (HDAC) inhibitor, valproic acid (VPA), can improve motor function by enhancing cell survival in PD genetic model mice with LRRK2 R1441G mutation. To address this question, we administered VPA in LRRK2 R1441G transgenic mice to determine whether VPA affects 1) histone acetylation and HDAC expression, 2) dopaminergic neuron survival, 3) inflammatory responses, 4) motor or non-motor symptoms. As results, VPA administration increased histone acetylation level and the number of tyrosine hydroxylase (TH) positive neurons in substantia nigra of LRRK2 R1441G mice. VPA reduced iba-1 positive activated microglia and the mRNA levels of pro-inflammatory marker genes in LRRK2 R1441G mice. In addition, VPA induced the improvement of PD-like motor and non-motor behavior in LRRK2 R1441G mice. These data suggest that the inhibition of HDAC can be further studied as potential future therapeutics for PD.


Subject(s)
Acetylation , Animals , Cell Survival , Dopaminergic Neurons , Epigenomics , Gene Expression , Histone Deacetylases , Histones , Lewy Bodies , Mice , Mice, Transgenic , Microglia , Models, Genetic , Movement Disorders , Neurodegenerative Diseases , Neurons , Neuroprotection , RNA, Messenger , Substantia Nigra , Tyrosine 3-Monooxygenase , Valproic Acid
20.
Psychiatry Investigation ; : 285-291, 2019.
Article in English | WPRIM | ID: wpr-760926

ABSTRACT

OBJECTIVE: Idiopathic Parkinson's disease (IPD) is a chronic progressive neurodegenerative movement disorder characterized by motor and non-motor symptoms that affects patients’ quality of life and caregiver burden. The aim of our study was to assess the caregiver burden (CB) in early and late stages of disease and to search if there was a relationship between quality of life and CB. METHODS: A total of 74 patients who were diagnosed as having IPD by a movement disorder neurologist according to United Kingdom Brain Bank Criteria and their caregivers were randomly selected for participation the study. Staging of PD was performed by the neurologist based on the Hoehn and Yahr (H&Y) Scale. Disease severity was determined using the Unified Parkinson's Disease Rating Scale (UPDRS). CB was evaluated using the Zarit Caregiver Burden Inventory (ZCBI). The Hospital Anxiety and Depression Scale (HADS) and the Beck Depression Inventory (BDI) were used to assess anxiety and depressive symptoms in patients with IPD and their caregivers. The Short-Form Health Survey instrument (SF-36) was used to evaluate quality of life of the patients. The Mini-Mental State Examination (MMSE) was administered to patients to evaluate gross cognitive status. RESULTS: Seventy-four patients (male, 58.1%) were included in the study. The mean age of patients was 66.18±8.5 and the mean duration of disease was 67.23±41.8 months. According to the H&Y scale, the patients were divided into two groups; stage I–II as early stage and stage III–V as late stage. Group 1 (H&Y I–II) consisted of 40 patients, and group 2 (H&Y III–V) comprised 34 patients. The mean duration of disease and UPDRS scores were significantly higher in group 2 (p=0.003, p=0.001, respectively). Significant differences were found in group 2 according to BDI. There were significant differences between group 1 and 2 according to SF-36 subdomains such as general health, emotional role, social functioning, pain, and mental health (p=0.019, p=0.038, p=0.005, p=0.004, p=0.014, respectively). However, there were no significant differences between these two groups concerning CB. CONCLUSION: Although CB was found in 35 (47.3%) caregivers in our study, we found no significant differences between the caregivers of patients with early and late-stage IPD patients. We thought that this might be due to strong family relationships and cultural dynamics in Turkey. Burden was found to be higher in depressive patients’ CGs and CGs who had depressive symptoms. It is important to recognize depressive symptoms earlier to protect the relationship between the CG and the patient because the main providers of care are family members.


Subject(s)
Anxiety , Brain , Caregivers , Depression , Family Relations , United Kingdom , Health Surveys , Humans , Mental Health , Movement Disorders , Parkinson Disease , Quality of Life , Turkey
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