Search

BACKGROUND: Primary ciliary dyskinesia is a rare disease that causes ciliary motility dysfunction with a clinical pattern that includes Kartagener's syndrome, consisting of chronic sinusitis, bronchiectasis and situs inversus. CLINICAL CASE: A 19-year-old male patient, diagnosed in his neonatal stage, which is known by the pulmonology department of a hospital in northeastern Colombia; with severe respiratory symptoms and multiple comorbidities that have led to constant hospital admissions and motivated a multidisciplinary intervention in order to lessen the impact of the disease. CONCLUSIONS: The approximate diagnosis is performed under clinical and radiological criteria, if necessary, tests are done to complement and confirm the diagnosis. There are no specific treatments for this disease. The case described allows us to explore therapeutic strategies that support future cases, aimed at improving prognosis and quality of life. [ABSTRACT FROM AUTHOR]

Introdução: As patologias que cursam com movimentos involuntários anormais, também designadas por discinésias, podem manifestar-se como coreia, atetose, tremor, mioclonia, asterixis, espasticidade, distonia ou tiques. A doença de Huntington é a causa mais comum de coreia hereditária, sendo causa de morbilidade importante e morte precoce. Os conviventes mais próximos são frequentemente os primeiros a notar as alterações coreicas. O médico de família, pelo acompanhamento dos seus utentes, ocupa uma posição privilegiada na identificação destes distúrbios do movimento. Descrição do caso: Utente do sexo masculino, 41 anos de idade, raça caucasiana, casado. Desempregado (operário da construção civil até há um ano). Inserido numa família nuclear. Sem antecedentes pessoais de relevo. História familiar de pai falecido aos 56 anos com Parkinson, segundo descrição dos familiares. Dois filhos gémeos (5 anos de idade), saudáveis até à data. Um familiar recorreu ao médico de família em janeiro de 2014, referindo que o utente apresentava quadro com três anos de evolução de “movimentos descoordenados e desajeitados” (sic) dos membros, alterações de memória e disartria. Essas alterações seriam semelhantes às que o pai do utente apresentava. Concomitantemente destacou a história de acidentes laborais na construção civil, o mais grave em 2012 (corte na mão direita com rebarbadora, com sequelas funcionais definitivas). Confrontado com a preocupação dos familiares, o utente recorre ao seu médico de família um mês mais tarde. Foi referenciado à consulta de neurologia, onde se diagnosticou doença de Huntington como causa do quadro de coreia. Comentário: A história clínica (onde podem ser relevantes os sinais notados por familiares/conviventes) e o exame físico (com alterações típicas no exame neurológico) são o principal método de diagnóstico das doenças do movimento. As alterações motoras da coreia incluem incapacidade de manutenção de um movimento numa dada tarefa, podendo, como neste caso, predispor para acidentes.

CONTEXT: Intestinal constipation - a common symptom among the general population - is more frequent in women. It may be secondary to an improper diet or organic or functional disturbances, such as dyskinesia of the pelvic floor. This is basically characterized by the absence of relaxation or paradoxical contraction of the pelvic floor and anal sphincter during evacuation. OBJECTIVE: To analyze, by manometric data, the anal pressure variation at rest, during evacuation effort by using the Valsalva maneuver and forced post-expiratory apnea in subjects with secondary constipation. METHODS: Twenty-one patients (19 females - 90.4%) with a mean age of 47.5 years old (23-72) were studied. The diagnosis was performed using anorectal manometry, with a catheter containing eight channels disposed at the axial axis, measuring the proximal (1) and distal (2) portions of the anal orifice. The elevation of the pressure values in relation to the resting with the evacuation effort was present in all patients. The Agachan score was used for clinical evaluation of constipation. The variables studied were: mean anal pressure of the anal orifice for 20 seconds at rest, the effort of evacuation using Valsalva maneuver and the effort of evacuation during apnea after forced expiration, as well as the area under the curve of the manometric tracing at moments Valsalva and apnea. RESULTS: The analysis of the mean values of the anal pressure variation at rest evidenced difference between proximal and distal channels (P = 0.007), independent of the moment and tendency to differ during moments Valsalva and apnea (P = 0.06). The mean of values of the area under the manometric tracing curve showed differences between moments Valsalva and apnea (P = 0.0008), either at the proximal portion or at the distal portion of the anal orifice. CONCLUSION: The effort of evacuation associated with postexpiratory apnea, when compared with the effort associated with the Valsalva maneuver, provides lower elevation of anal pressure at rest by the parameter area under the curve.

Clozapine has been used as an attempt to manage levodopa complications in advanced Parkinson's disease (PD). To investigate the use of clozapine in this context in a Brazilian sample, a retrospective chart review was carried out at the Movement Disorders Clinic from the Federal University of Minas Gerais. This study enrolled 43 PD patients who used or were in use of clozapine. Patients had a mean age of 64 years and a mean UPDRS score of 55. Clozapine was indicated for dyskinesias in 17 patients, for psychosis in 15 and for both reasons in 11. The average maximum dose was 70 mg/day. Twenty six patients used it for a mean of 3.5 years. Twenty nine presented an improvement of their condition, 9 remained clinically stable. Twenty subjects interrupted the use of clozapine, being 9 due to adverse effects. Clozapine may play a role in the management of motor and psychiatric complications in PD, but it is associated with low tolerability.A clozapina vem sendo utilizada na doença de Parkinson (DP) avançada para controle das complicações causadas pela levodopa. Com o objetivo de investigar o emprego da clozapina nesse contexto em amostra de pacientes brasileiros, um estudo retrospectivo foi realizado no Ambulatório de Distúrbios do Movimento da Universidade Federal de Minas Gerais. Este estudo incluiu 43 pacientes que usaram clozapina, apresentando idade média de 64 anos e uma média de 55 pontos no UPDRS. A clozapina foi indicada para discinesias em 17 pacientes, para psicose em 15 e para ambos os motivos em 11. A média da dose máxima empregada foi de cerca de 70 mg/dia. Vinte e seis pacientes usaram a medicação por uma média de 3,5 anos. Houve melhora do quadro clínico em 29 pacientes, 9 permaneceram com quadro clínico estático. O tratamento foi interrompido em 20 pessoas, sendo 9 por efeitos adversos. Apesar de a clozapina ser eficaz no controle das complicações motoras e psiquiátricas na DP, seu uso está associado com baixa tolerabilidade.

Copyright of Universidade Estadual Paulista. Revista de Odontologia is the property of Universidade Estadual Paulista. Revista de Odontologia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Phenytoin is an effective antiepileptic drug, although, it can be associated with many side effects, including dyskinesia. OBJECTIVE: To describe the clinical characteristics of phenytoin induced dyskinesia. METHODS: We investigated the occurrence of involuntary movements in patients followed at our adult and pediatric epilepsy clinics during the period of one year. RESULTS: Three patients presented with phenytoin-induced dyskinesia: one adult with axial and orofacial dyskinesia, and two children with choreoathetosis. They did not have other signs of phenytoin intoxication and had complete recovery after phenytoin withdrawal. CONCLUSION: Phenytoin induced dyskinesia may occur during either chronic or initial treatment and with normal serum phenytoin levels. However, it occurs most often in patients on polytherapy, usually after increasing dosage and with toxic serum levels. Other signs of phenytoin intoxication may be present in these patients, but often the dyskinesia is the only side effect, which may delay the diagnosis and treatment. The clinical characteristics of the involuntary movements vary and may be focal or generalized, most often characterized by choreoathetosis and dyskinesias. These may last for hours, days or even years, but frequently disappear completely after phenytoin withdrawal.Fenitoína é droga anti-epiléptica eficaz, mas pode estar associada a vários efeitos colaterais, inclusive discinesia. OBJETIVO: Descrever as características clínicas da discinesia induzida por fenitoína. MÉTODO: Avaliamos a ocorrência de movimentos involuntários em pacientes seguidos nos ambulatórios de epilepsia durante o período de um ano. RESULTADOS: Três pacientes apresentaram discinesia induzida por fenitoína: um adulto com discinesia orofacial e duas crianças com coreoatetose. Eles não tinham outros sinais de intoxicação por fenitoína e apresentaram recuperação completa após a retirada da fenitoína. CONCLUSÃO: Discinesia induzida pela fenitoína pode ocorrer durante tratamento crônico ou no início do tratamento e com níveis séricos normais de fenitoína. Entretanto, na maioria das vezes ocorre em politerapia e geralmente após aumento da dose e com níveis tóxicos de fenitoína. Outros sinais de intoxicação podem estar presentes, mas muitas vezes a discinesia é o único efeito adverso, o que pode atrasar o diagnóstico e tratamento. Os movimentos involuntários podem ser focais ou generalizados. Podem durar horas, dias ou até anos, mas freqüentemente desaparecem completamente após a retirada da fenitoína.

Doença de Parkinson (DP) é a causa mais freqüente de parkinsonismo em nosso meio, responsável por 58% dos casos. Devem-se excluir outras causas, como uso de drogas antidopaminérgicas (20% dos casos). Levodopa é o agente mais importante para o tratamento de DP. Há controvérsia sobre quando se introduzir esta droga mas deve-se reservá-la para quando surgir substancial comprometimento funcional. Drogas acessórias são anticolinérgicos, úteis para o tremor; amantadina, para bradicinesia e rigidez; e agonistas dopaminérgicos que ajudam no manuseio de complicações da levodopa. A selegelina tem discreta ação sintomática e possível ação neuroprotetora. O tratamento de DP pode ser complicado por falha primária, falha secundária e problemas do uso da levodopa. A falha primária pode ser causada por uso de agentes antidopaminérgicos, presença de tremor de repouso severo ou erro diagnóstico. A causa mais comum de falha secundária é progressão da DP. As principais complicações do uso da levodopa são flutuações e discinesias. Outros problemas comuns são disautonomia, depressão, psicose e demência. Fenomenologia e manuseio destas complicações são discutidos. Perspectivas futuras incluem cirurgias para reversão de patologia.

Copyright of Arquivos de Neuro-Psiquiatria is the property of Thieme Medical Publishing Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: The imbalance in the activation of the stabilizing muscles of the scapula, upper trapezius (TS), lower trapezius (IT) and serratus anterior (SA) can lead to scapular dyskinesia (SD). Whereas this dysfunction as a functional limiting potential, the use of oscillatory rods (OR) is interesting, as it's promising in adjusting the neuromuscular control provided by this therapeutic resource. Objectives: To analyze the acute effects of exercises with OR in the activation of scapular stabilizer muscles in individuals with and without asymptomatic SD Methods: The study included 26 university students (18-25 years). The volunteers were divided into two groups: group with dyskinesia (GWD = 10) and group without dyskinesia (GWD = 16). Electromyography (EMG) surface was performed in UT muscles, LT and SA during three maximal voluntary isometric contractions for each muscle, to normalize the electromyographic data, and over 10 movements scaption. Afterwards, they were performed: familiarization, exercises protocol and reevaluation. The data were filtered, rectified and smoothed to create the linear envelope. The t-Student test was used for comparisons. The level of significance was set at p <0.05. Results: Activation of LT was 27.8% higher in the GWD after performing the exercises (p = 0.03). Conclusion: The exercise protocol was able to increase muscle activation of LT in GWD. [ABSTRACT FROM AUTHOR]

Paroxysmal dyskinesias are movement disorders characterized by sudden episodes of involuntary movements. They are divided into kinesigenic, non-kinesigenic, and exercise-induced dyskinesias. Emphasis is made on the importance of the clinical history and fully describing the episodes in the differential diagnosis. The case is presented of a twelve year-old female with paroxysmal episodes of tongue torsion and dystonic postures of the upper limbs when start running or descending stairs and in the beginning of physical exercise, which ceased spontaneously seconds later. Some episodes were triggered by stress. In family history her father, paternal uncle, and sister also had paroxysmal movements. Interictal neurological examination was normal. Laboratory tests revealed a mutation in PRRT2 gene, which is related to neurological disorders such as paroxysmal kinesigenic dyskinesia, infantile convulsions and choreoathetosis migraine, episodic ataxia, paroxysmal torticollis, and intellectual disability. Treatment with carbamazepine was effective., (Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.)