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1.
Front Neuroimaging ; 3: 1340754, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38496013

RESUMO

Introduction: Parkinson's disease (PD) presents challenges in early diagnosis and follow-up due to the lack of characteristic findings. Recent studies suggest retinal changes in PD are possibly indicative of neurodegeneration. We explored these changes using optical coherence tomography (OCT) to assess retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) thickness. Methods: Thirty PD and non-PD patients were matched according to demographic characteristics and OCT and clinical evaluations to rule out other neurodegenerative and visual diseases. Results: We observed a significant thinning of the RNFL in patients diagnosed with PD compared to non-PD patients (p = 0.015). Additionally, this reduction in RNFL thickness was found to correlate with the severity of the disease (p = 0.04). Conclusion: The OCT serves as a tool for quantifying neurodegeneration in PD, showing a significant correlation with disease severity. These findings suggest that OCT could play a crucial role as a potential biomarker in the diagnosis and monitoring of PD.

2.
Rev. MED ; 29(1): 57-76, ene.-jun. 2021. tab, graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1365426

RESUMO

Resumen: acorde a las fuentes epidemiológicas de la Organización Mundial de la Salud, en la última década, entre las principales causas de mortalidad más del 55 % resultaban de enfermedades no transmisibles, predominando la isquemia cardiaca y el accidente cerebrovascular como causales. En el 2019, con la aparición del nuevo coronavirus, COVID-19, como etiología de la pandemia que ha impactado tanto en salud como económica y socialmente al mundo, las cifras de la curva de las causas usuales de mortalidad han cambiado no solo a causa del efecto directo de la enfermedad en los múltiples órganos, sino también por los efectos indirectos en relación con falta de acceso a atención médica en enfermedades crónicas. Dado que es una enfermedad transmisible, el COVID-19 produce alteraciones, principalmente respiratorias y vasculares, sin embargo, el mayor conocimiento de los aspectos fisiopatológicos de la enfermedad ha revelado el compromiso de múltiples sistemas, destacando el sistema nervioso central como un objetivo del virus que impacta en las secuelas y los desenlaces de los pacientes, de modo que se documentan manifestaciones neurológicas hasta en un 55 %. El objetivo de esta revisión es caracterizar una serie de casos de pacientes en el Hospital Militar Central, mediante la descripción de aspectos fisiopatológicos y clínicos del compromiso neurológico.


Summary: according to the epidemiological sources of the World Health Organization, In the last decade, among the leading causes of mortality, more than 55 % resulted from non-communicable diseases, predominating cardiac ischemia, and stroke as the leading causes. In 2019, with the appearance of the new coronavirus, COVID-19, as an etiology of the pandemic that has Impacted health, economy, and society, the familiar figures of the mortality curve have changed, not only because of the direct effect of the disease on multiple organs, but also because of the Indirect effects, concerning lack of access to medical care in chronic diseases. Since it is a communicable disease, COVID-19 produces alterations, mainly respiratory and vascular; however, the greater knowledge of the pathophysiological aspects of the disease has revealed the involvement of multiple systems, highlighting the central nervous system as a target of the virus that impacts on the sequelae and outcomes of patients, so neurological manifestations are documented up to 55 %. The objective of this review Is to characterize a series of cases of patients in Hospital Militar Central, by the description of pathophysiological and clinical aspects of the neurological compromise.


Resumo: de acordo com fontes epidemiológicas da Organização Mundial da Saúde, na última década, entre as principais causas de mortalidade, mais de 55 % resultavam de doenças não transmissíveis, com predominância da Isquemia cardíaca e do acídente cerebrovascular como causais. Em 2019, com o surgimento no novo coronavirus (COVID-19), como etiologia da pandemia que vem Impactando tanto em saúde quanto económica e socialmente o mundo inteiro, as cifras da curva das causas usuais de mortalidade vêm mudando não somente devido ao efeito direto da doença nos múltiplos órgãos, mas também aos efeitos indiretos com relação à falta de acesso à atenção médica em doenças crónicas. Tendo em vista que é uma doença transmissível, a COVID-19 produz alterações principalmente respiratórias e vasculares, contudo o maior conhecimento dos aspectos fisiopatológicos da doença revela o comprometimento de vários sistemas, destacando o nervoso central como um objetivo do vírus, que Impacta nas sequelas e nos desenlaces dos pacientes, de modo que são registradas manifestações neurológicas de até 55 %. O objetivo desta revisão é caracterizar uma série de casos de pacientes no Hospital Militar Central, mediante a descrição de aspectos flsiopatológicos e clínicos do comprometimento neurológico.

3.
Acta neurol. colomb ; 37(1,supl.1): 1-12, mayo 2021. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1248574

RESUMO

RESUMEN El espectro de manifestaciones neurológicas secundarias a la infección por la familia de virus Herpesviridae es heterogénea, depende de factores ambientales, de la susceptibilidad inmunológica del huésped (infección de por vida) y la susceptibilidad genética, entre otras variables. Así, el compromiso puede ser fatal en ausencia de un rápido diagnóstico y tratamiento. El objetivo de revisar la neuroinfección por herpesvirus tipo 1 (HSV-1), tipo 2 (HSV-2) y virus de la varicela zóster (VVZ) es profundizar en aquellas manifestaciones clínicas que generan compromiso del sistema nervioso central y periférico, así como contribuir a una detección y confirmación temprana de la infección, establecer un enfoque terapéutico adecuado, que depende del compromiso clínico, y, finalmente, minimizar las complicaciones y secuelas neurológicas a largo plazo.


SUMMARY The spectrum of neurological manifestations secondary to infection by the family of viruses Herpesviridae is heterogeneous depending on environmental factors, susceptibility host immunological (infection for life), genetic susceptibility among other variables. Thus, the compromise can be fatal in the absence of prompt diagnosis and treatment. He objective of reviewing neuroinfection by Herpes virus type 1 (HSV-1), type 2 (HSV-2) and virus varicella zoster (VVZ) is to delve into those clinical manifestations that generate central and peripheral nervous system involvement, seeks to detect and confirm early, and likewise establish an adequate therapeutic approach that depends on the clinical commitment, ultimately minimizing long-term neurological complications and sequelae term.


Assuntos
Mobilidade Urbana
4.
Front Neurol ; 11: 656, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32793096

RESUMO

Rationale: The optimal modality, intensity, duration, frequency, and dose-response of exercise as a therapy for Parkinson's Disease (PD) are insufficiently understood. Objective: To assess the impact of a high-intensity tandem bicycle program on clinical severity, biomarkers, and functional MRI (fMRI) in PD. Methods: A single-center, parallel-group clinical trial was conducted. Thirteen PD patients aged 65 or younger were divided in two groups: a control group and an intervention group that incorporated a cycling program at 80% of each individual's maximum heart rate (HR) (≥80 rpm), three times a week, for 16 weeks. Both groups continued their conventional medications for PD. At baseline and at the end of follow-up, we determined in all participants the Unified Parkinson's Disease Rating Scale, anthropometry, VO2max, PD biomarkers, and fMRI. Results: VO2max improved in the intervention group (IG) (+5.7 ml/kg/min), while it slightly deteriorated in the control group (CG) (-1.6 ml/kg/min) (p = 0.041). Mean Unified Parkinson's Disease Rating Scale (UPDRS) went down by 5.7 points in the IG and showed a small 0.9-point increase in the CG (p = 0.11). fMRI showed activation of the right fusiform gyrus during the motor task and functional connectivity between the cingulum and areas of the frontal cortex, and between the cerebellar vermis and the thalamus and posterior temporal gyrus. Plasma brain-derived neurotrophic factor (BDNF) levels increased more than 10-fold in the IG and decreased in the CG (p = 0.028). Larger increases in plasma BDNF correlated with greater decreases in UPDRS (r = -0.58, p = 0.04). Conclusions: Our findings suggest that high-intensity tandem bicycle improves motor function and biochemical and functional neuroimaging variables in PD patients. Trial registration number: ISRCTN 13047118, Registered on February 8, 2018.

5.
Acta neurol. colomb ; 36(supl.1): 39-46, ago. 2020. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1124088

RESUMO

RESUMEN La emergencia sanitaria que ha generado la infección por el covid-19 ha llevado a la necesidad de implementar diversas estrategias para disminuir y prevenir el riesgo de complicaciones en pacientes con enfermedades crónicas que requieren de un seguimiento periódico estricto. La enfermedad de Parkinson es uno de los trastornos neurodegenerativos que más rápido aumento ha mostrado en las últimas décadas, por lo que es importante establecer algunas recomendaciones para el manejo de estos pacientes. Aunque hasta el momento no hay evidencia contundente que demuestre que la enfermedad de Parkinson aumenta el riesgo de desenlaces adversos del covid-19, es posible que la presencia de diversas comorbilidades y la edad avanzada puedan aumentar las complicaciones y la probabilidad de estancia prolongada en caso de contraer la infección. El uso de herramientas de evaluación a distancia como la telemedicina garantizan una valoración oportuna y permiten la realización de ajustes al tratamiento en el momento en que éstos sean requeridos, mejorando la calidad de vida de los pacientes durante este periodo. Adicionalmente, en esta revisión se generan recomendaciones asociadas al manejo de terapias avanzadas como la cirugía de estimulación cerebral profunda y los dispositivos de infusión de medicamentos, y se exponen consideraciones relacionadas con las terapias de rehabilitación, actividad física y bienestar psicológico de estos pacientes en el transcurso de la pandemia.


SUMMARY Current global impact of the COVID-19 pandemic has generated new challenges to continue to provide optimal medical care in patients with chronic diseases in need of regular follow-up. The number of persons suffering from Parkinson disease (PD) has exponentially grown up in the last decade and according to the World Health Organization, this disease is expected to keep growing. For this reason, it is important to review some recommendations for treatment and follow-up of PD patients. Current knowledge does not support an increased risk of infection with COVID-19 in people with PD, but advanced age on average and the usual comorbidities of this population are well-known factors that increase mortality of this infection. Telemedicine and other technologies emerge as a powerful tool to deliver optimal clinical care and improve quality of life in the context of the pandemic. Additionally, this review presents recommendations for management of advanced therapies in PD such as deep brain stimulation and infusion therapies as well as useful strategies for adapt physical activities, rehabilitation, and psychosocial well-being during the mandatory lockdown.


Assuntos
Mobilidade Urbana
6.
Acta neurol. colomb ; 36(1): 39-46, Jan.-Mar. 2020. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1114643

RESUMO

RESUMEN INTRODUCCIÓN: La encefalitis autoinmune es causada por mecanismos inmunes antineuronales, su presentación clínica es heterogénea, los criterios clínicos y paraclínicos disponibles orientan el abordaje, sin embargo, el reto ocurre cuando no hay autoanticuerpos detectables en suero o líquido cefalorraquídeo (LCR). METODOLOGÍA: Reportamos cuatro casos destacando la variabilidad de las manifestaciones clínicas, que ante la ausencia de anticuerpos (negativos finalmente en tres de los casos) fueron tratados con inmunoterapia con buena respuesta. CONCLUSIÓN: En sitios donde no se dispone de medición de anticuerpos de manera expedita, o a pesar de ser estos negativos, ante la sospecha clínica, apoyado de estudios de LCR, resonancia magnética nuclear y registro electroencefalográfico, se sugiere iniciar inmunoterapia temprana, usualmente dando lugar a reversibilidad del trastorno neurológico.


SUMMARY INTRODUCTION: Autoimmune encephalitis is caused by antineuronal immune mechanisms, its clinical presentation is heterogeneous, clinical and paraclinical criteria guide the approach, however, the challenge occurs when there are no detectable autoantibodies in serum or cerebrospinal fluid. METHODOLOGY: We report four cases that highlight the variability of clinical manifestations, which in the absence of antibodies (finally negative in three of the cases) were treated with immunotherapy with good response. CONCLUSION: In places where antibody measurement is not available expeditiously, or despite it being negative, given clinical suspicion, supported by CSF studies, magnetic resonance imaging and electroencephalographic recording, it is suggested to start early immunotherapy, usually resulting in the reversibility of the neurological disorder.


Assuntos
Mobilidade Urbana
7.
Acta neurol. colomb ; 35(supl.1): 28-32, set. 2019.
Artigo em Espanhol | LILACS | ID: biblio-1019310

RESUMO

RESUMEN Los trastornos del control de impulsos (TCI) son complicaciones psiquiátricas de la enfermedad de Parkinson (EP), cada vez más reconocidos, pero que persisten subdiagnosticados y pueden llegar a ser muy disruptivos para la vida familiar del paciente, en especial si no son detectados a tiempo. Si bien uno de sus principales riesgos es el uso de agonistas dopaminérgicos, estos no son su única causa, se pueden ver sin relación con medicamentos o con cualquier tratamiento para la EP. Por lo tanto, se debe interrogar sistemáticamente por su presencia y educar al paciente y su familia para que sean reportados en cualquier momento. El objetivo de este capítulo es describir los diferentes tipos de TCI, sus factores de riesgo y tratamiento.


SUMMARY Impulse Control Disorders (ICD) are psychiatric complications of Parkinson's Disease (PD), increasingly recognized, but which persist underdiagnosed and can be vert disruptive to the patient's family life, especially if they are not detected in time. Although one of its main risks is the use of dopamine agonists, these are not the only cause, they can be seen without realtion to medications ot any treatment for PD, therefore it should be questioned systematically by their presence and educate the patient and his family to be reported at any time. The objective of this chapter is to describe the different types of ICD, their risk factors and treatment.


Assuntos
Mobilidade Urbana
8.
Rev. colomb. med. fis. rehabil. (En línea) ; 29(2): 93-102, 2019. tab, graf
Artigo em Espanhol | LILACS, COLNAL | ID: biblio-1509420

RESUMO

Introducción. La enfermedad de Parkinson es considerada la segunda enfermedad neurodegenerativa que más genera discapacidad motora y neuropsiquiátrica; es un trastorno de causa multifactorial cuyo síntoma cardinal es la bradicinesia, seguida de temblor, rigidez e inestabilidad postural, síntomas que impactan la funcionalidad y la calidad de vida del pacien- te. Estudios epidemiológicos muestran que la prevalencia del Parkinson en Colombia es de 4,7 afectados por cada 1.000 personas mayores de 50 años, por lo que es necesario cuantificar el compromiso y las necesidades de atención de estos pacientes. Objetivos. Hacer una caracterización funcional y de la calidad de vida de 60 pacientes con enfermedad de Parkinson atendidos en un hospital de tercer nivel de Bogotá D.C., Colombia, entre noviembre de 2015 y junio de 2016. Materiales y métodos. Estudio de corte transversal con componente analítico realizado en 60 pacientes que cumplieron los criterios de inclusión. Se aplicó el cuestionario de calidad de vida PDQ-39 y la escala de funcionalidad para pacientes con enfermedad de Parkinson MDS- UPDRS. Resultados. El promedio de edad de la muestra fue 67 años, con un rango entre 40 y 84 años, y el 55% eran hombres. El mayor deterioro se evidenció en los dominios de movilidad, activi- dades de la vida diaria, cognición y molestias corporales. Conclusiones. La muestra examinada evidenció un compromiso moderado en la calidad de vida, en los dominios de movilidad y las actividades de la vida diaria. En el aspecto funcional, clínicamente se encontró un compromiso motor en los aspectos de bradicinesia, marcha y rigidez.


Introduction. Parkinson's disease is considered the second neurodegenerative disease that most generates motor and neuropsychiatric disability; it is a multifactorial disorder whose cardinal symptom is bradykinesia, followed by tremor, rigidity and postural instability, symptoms that impact the functionality and quality of life of the patient. Epidemiological studies show that the prevalence of Parkinson's disease in Colombia is 4.7 affected per 1,000 people over 50 years of age, so it is necessary to quantify the commitment and care needs of these patients. Objectives. To make a functional and quality of life characterization of 60 patients with Parkinson's disease attended in a third level hospital in Bogotá D.C., Colombia, between November 2015 and June 2016. Materials and methods. Cross-sectional study with analytical component conducted in 60 patients who met the inclusion criteria. The PDQ-39 quality of life questionnaire and the functionality scale for patients with Parkinson's disease MDS- UPDRS were applied. Results. The average age of the sample was 67 years, with a range between 40 and 84 years, and 55% were men. The greatest impairment was evidenced in the domains of mobility, activities of daily living, cognition and body discomfort. Conclusions. The sample examined showed moderate compromise in quality of life, in the mobility domains and activities of daily living. In the functional aspect, clinically, motor compromise was found in the aspects of bradykinesia, gait and rigidity.


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Colômbia
9.
Parkinsonism Relat Disord ; 53: 10-20, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29853295

RESUMO

Diseases with a choreic phenotype can be due to a variety of genetic etiologies. As testing for Huntington's disease (HD) becomes more available in previously resource-limited regions, it is becoming apparent that there are patients in these areas with other rare genetic conditions which cause an HD-like phenotype. Documentation of the presence of these conditions is important in order to provide appropriate diagnostic and clinical care for these populations. Information for this article was gathered in two ways; the literature was surveyed for publications reporting a variety of genetic choreic disorders, and movement disorders specialists from countries in Latin America and the Caribbean were contacted regarding their experiences with chorea of genetic etiology. Here we discuss the availability of molecular diagnostics for HD and for other choreic disorders, along with a summary of the published reports of affected subjects, and authors' personal experiences from the regions. While rare, patients affected by non-HD genetic choreas are evidently present in Latin America and the Caribbean. HD-like 2 is particularly prevalent in countries where the population has African ancestry. The incidence of other conditions is likely determined by other variations in ethnic background and settlement patterns. As genetic resources and awareness of these disorders improve, more patients are likely to be identified, and have the potential to benefit from education, support, and ultimately molecular therapies.


Assuntos
Coreia/epidemiologia , Transtornos Cognitivos/epidemiologia , Demência/epidemiologia , Transtornos Heredodegenerativos do Sistema Nervoso/epidemiologia , Doença de Huntington/epidemiologia , Neuroacantocitose/epidemiologia , Ataxias Espinocerebelares/epidemiologia , Região do Caribe/epidemiologia , Coreia/genética , Transtornos Cognitivos/genética , Demência/genética , Transtornos Heredodegenerativos do Sistema Nervoso/genética , Humanos , Doença de Huntington/genética , América Latina/epidemiologia , Neuroacantocitose/genética , Ataxias Espinocerebelares/genética
10.
Acta neurol. colomb ; 34(1): 25-39, 2018. tab, GRAF
Artigo em Espanhol | LILACS, COLNAL | ID: biblio-909100

RESUMO

La apomorfina es un agonista dopa que se viene usando desde hace más 25 años en el tratamiento de la enfermedad de Parkinson avanzada con complicaciones motoras complejas, por lo cual sigue siendo de gran importancia en el tratamiento de esta etapa de la enfermedad. En el siguiente escrito, realizado por el Comité de Movimientos Anormales de la Asociación Colombiana de Neurología, se hace una revisión respecto a la medicación, su eficacia y el papel en el manejo de la enfermedad de Parkinson, así como una comparación entre las diferentes terapias avanzadas disponibles hoy en día. De la misma manera el Comité hace recomendaciones sobre las indicaciones, elección de candidatos y protocolos para el inicio de las diferentes formas de administración (intermitente e infusión continua) para optimizar el uso de esta terapia y facilitar la adherencia al tratamiento. Por otra parte, se revisan los efectos adversos relacionados con la terapia y se hacen recomendaciones sobre el manejo de las mismas, el seguimiento que se debe hacer a los pacientes que reciban apomorfina y las claves en el tratamiento a largo plazo. long term.


Apomorphine is a dopamine agonist that has been used for more than 25 years in the treatment of advanced Parkinson's disease with complex motor complications, becoming an important treatment option for this stage of the disease. In the following document, written by the movement disorders committee of the Colombian Association of Neurology, an extensive review is made about this medication, its efficacy and role in the management of Parkinson's disease as well as a comparison between the different advanced therapies available today. Additionally, recommendations about the indications, election of candidates and protocols for choosing between the different forms of administration (intermittent and continuous infusion) are establish according current evidence in order to help clinicians to optimize the use of this therapy and facilitate adherence to treatment. On the other hand, adverse effects related to the therapy are reviewed and recommendations are made about their management, as well as a protocol to follow-up patients receiving apomorphine and keys in the long term.


Assuntos
Humanos , Doença de Parkinson , Bombas de Infusão , Apomorfina , Consenso
11.
Acta neurol. colomb ; 33(supl.1): 25-31, jul.-set. 2017. tab
Artigo em Espanhol | LILACS | ID: biblio-989181

RESUMO

RESUMEN Para el manejo médico de la distonía se han utilizado tradicionalmente varios fármacos encaminados a disminuir esta condición y a mejorar la calidad de vida. Las terapias orales solas o combinadas proporcionan control parcial de los síntomas y en la mayoría de los casos hay que recurrir a terapias invasivas.


SUMMARY During the last years, several drugs has been tried in order to try to diminish the impact of this condition and improve the quality of life of patients who suffer from dystonia. Oral therapy alone or in combination, generates only partial symptom relief and most of the cases end up requiring other more invasive therapies.


Assuntos
Baclofeno , Antagonistas Colinérgicos , Distonia
12.
Acta neurol. colomb ; 33(supl.1): 38-47, jul.-set. 2017. graf
Artigo em Espanhol | LILACS | ID: biblio-989183

RESUMO

RESUMEN A pesar de los recientes avances en la comprensión de los circuitos cerebrales involucrados en la distonía, las técnicas quirúrgicas invasivas y no invasivas han fallado en proporcionar un beneficio substancial a los pacientes que sufren de distonía, en comparación con los resultados observados en la enfermedad de Parkinson, no obstante, la lesionectomía, la estimulación cerebral profunda y el ultrasonido enfocado pueden proporcionar mejoría en los casos refractarios al manejo médico.


SUMMARY Despite recent advances in understanding brain circuits involved in dystonia, surgical techniques both invasive and not invasive have fail to provide substantial benefit to patients suffering from dystonia compared to the results seeing in Parkinson's disease, nonetheless, lesionectomy, deep brain stimulation and focused ultrasound can provide relief in medical refractory cases.


Assuntos
Estimulação Encefálica Profunda , Distonia , Globo Pálido
13.
Acta neurol. colomb ; 33sept. 2017.
Artigo em Espanhol | LILACS | ID: biblio-1533470

RESUMO

A pesar de los recientes avances en la comprensión de los circuitos cerebrales involucrados en la distonía, las técnicas quirúrgicas invasivas y no invasivas han fallado en proporcionar un beneficio substancial a los pacientes que sufren de distonía, en comparación con los resultados observados en la enfermedad de Parkinson, no obstante, la lesionectomía, la estimulación cerebral profunda y el ultrasonido enfocado pueden proporcionar mejoría en los casos refractarios al manejo médico.


SUMMARY Despite recent advances in understanding brain circuits involved in dystonia, surgical techniques both invasive and not invasive have fail to provide substantial benefit to patients suffering from dystonia compared to the results seeing in Parkinson's disease, nonetheless, lesionectomy, deep brain stimulation and focused ultrasound can provide relief in medical refractory cases.


Assuntos
Tálamo , Estimulação Encefálica Profunda , Distonia , Globo Pálido
14.
Acta neurol. colomb ; 33sept. 2017.
Artigo em Espanhol | LILACS | ID: biblio-1533469

RESUMO

Para el manejo médico de la distonía se han utilizado tradicionalmente varios fármacos encaminados a disminuir esta condición y a mejorar la calidad de vida. Las terapias orales solas o combinadas proporcionan control parcial de los síntomas y en la mayoría de los casos hay que recurrir a terapias invasivas.


SUMMARY During the last years, several drugs has been tried in order to try to diminish the impact of this condition and improve the quality of life of patients who suffer from dystonia. Oral therapy alone or in combination, generates only partial symptom relief and most of the cases end up requiring other more invasive therapies.


Assuntos
Baclofeno , Antagonistas Colinérgicos , Distonia
15.
Artigo em Inglês | MEDLINE | ID: mdl-24255805

RESUMO

BACKGROUND: DYT-5 dystonia usually presents as a dopa-responsive dystonia (DRD) with early or late parkinsonian manifestations and/or dystonic features. Genetically, these patients have been described as having a wide array of independent mutations in the guanosine triphosphate cyclohydrolase 1 gene (GCH1), and these patients may also have a wide array of clinical manifestations. METHODS: A Colombian family with six affected female members was characterized. RESULTS: Three members, including the index case, revealed mild parkinsonism, whereas three granddaughters of the index case showed severe generalized dystonia. No men were affected. There was anticipation, and a female predominance was uncovered. Treatment with levodopa was generally effective except in a case with severe skeletal deformities and contractions. Detailed genetic analysis in the index case revealed a new mutation in exon 1 of GCH1 (c.159delG). DISCUSSION: This study revealed a new mutation of GCH1 that resulted in heterogeneous clinical presentations of DRD within a large family.

16.
Neuromodulation ; 16(1): 35-9; discussion 39-40, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-22748071

RESUMO

OBJECTIVES: To screen for potentially underreported behavioral changes in patients with idiopathic Parkinson's disease (PD) pre- and post-deep brain stimulation (DBS), a retrospective data base review was performed. METHODS: In total, 113 patients who underwent unilateral or bilateral DBS at the University of Florida in either subthalamic nucleus or globus pallidus internus for PD were screened for behavioral issues by asking about the presence or absence of seven neuropsychiatric symptoms (panic, fear, paranoia, anger, suicidal flashes, crying, and laughing). RESULTS: There was a high prevalence of fear (16.3%), panic (14.0%), and anger (11.6%) at baseline in this cohort. In the first six months following DBS implantation, anger (32.6%), fear (26.7%), and uncontrollable crying (26.7%) were the most frequent symptoms reported. Those symptoms also were present following six months of DBS surgery (30.2%, 29.1%, and 19.8%, respectively). New uncontrollable crying occurred more in the acute postoperative stage (less than or equal to six months) (p = 0.033), while new anger occurred more in the chronic postoperative stage (greater than six months) (p = 0.017). The frequency of uncontrollable laughing significantly increased with bilateral DBS (p = 0.033). CONCLUSIONS: Many of the neuropsychiatric issues were identified at preoperative baseline and their overall occurrence was more than expected. There was a potential for worsening of these issues post-DBS. There were subtle differences in time course, and in unilateral vs. bilateral implantations. Clinicians should be aware of these potential behavioral issues that may emerge following DBS therapy, and should consider including screening questions in preoperative and postoperative interviews. Standardized scales may miss the presence or absence of these clinically relevant issues.


Assuntos
Estimulação Encefálica Profunda/efeitos adversos , Estimulação Encefálica Profunda/psicologia , Doença de Parkinson/psicologia , Doença de Parkinson/terapia , Humanos , Estudos Retrospectivos
17.
J Neuropsychiatry Clin Neurosci ; 24(3): 326-30, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23037646

RESUMO

Apathy is a common neuropsychiatric feature of Parkinson's disease (PD), but little is known of relationships between apathy and specific medications in PD. Following a retrospective database and chart review of 181 Parkinson's patients, relationships between Apathy Scale scores and use of psychotropic and antiparkinsonian medications were examined with multiple regression. Controlling for age, sex, education, and depression, the use of selective serotonin reuptake inhibitors (SSRIs), but not other antidepressants, was associated with greater apathy. Use of monoamine oxidase B inhibitors was associated with less apathy. Longitudinal studies are needed to evaluate a potential SSRI-induced apathy syndrome in PD.


Assuntos
Antidepressivos/efeitos adversos , Apatia/efeitos dos fármacos , Depressão/tratamento farmacológico , Doença de Parkinson/psicologia , Inibidores Seletivos de Recaptação de Serotonina/efeitos adversos , Adulto , Idoso , Idoso de 80 Anos ou mais , Depressão/epidemiologia , Depressão/etiologia , Feminino , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/tratamento farmacológico , Doença de Parkinson/epidemiologia , Análise de Regressão , Estudos Retrospectivos
18.
Neurologist ; 18(1): 1-16, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22217609

RESUMO

BACKGROUND: Although the diagnosis of Parkinson disease (PD) still relies mainly on the appearance of its classical motor features of resting tremor, rigidity, bradykinesia, and postural instability, nonmotor manifestations in PD are now recognized as an integral component of this multisystem disorder. REVIEW SUMMARY: Nonmotor complications in PD occur commonly. The current understanding of cognitive dysfunction; neuropsychiatric manifestations including psychosis, impulsive control, and compulsive disorders, depression, anxiety and apathy; autonomic complications such as hypotension, erectile dysfunction, and urinary complications; sleep disorders and other nonmotor manifestations are summarized in this review. CONCLUSION: Nonmotor complications often carry a greater impact than motor features in PD. Therefore, heightened awareness and proper recognition of these features are critical in improving a Parkinson patient's quality of life.


Assuntos
Doenças do Sistema Nervoso Autônomo/etiologia , Transtornos Cognitivos/etiologia , Transtornos Mentais/etiologia , Doença de Parkinson/complicações , Doença de Parkinson/diagnóstico , Humanos
19.
Rev. MED ; 17(1): 64-74, ene. 2009. ilus
Artigo em Espanhol | LILACS | ID: lil-668348

RESUMO

El trauma cráneo encefálico (TCE) es una de las principales causas de consulta en urgencias de todos los hospitales del mundo, con variabilidad en su gravedad y consecuencias, de acuerdo al origen, características de los pacientes (enfermedades subyacentes, edad, etc.) y atención recibida. La situación nacional merece atención especial por el conflicto armado que nos aqueja desde hace más de 50 años y que ha dejado en miles de pacientes secuelas físicas, psicológicas y psiquiátricas, al igual que en sus familias y el medio que los rodea. Con esta revisión se busca actualizar las secuelas observadas a nivel neuropsiquiátrico y los procedimientos que al día de hoy muestran beneficio en la recuperación de un TCE. También se anotan algunos procedimientos y fármacos que aunque teóricamente podrían tener beneficio, este aun no se evidencia...


Traumatic brain injury (TBI) is one of the main causes of urgent consultations in every hospital in the world, with variability of the severity and consequences, depending on its origins, patients' characteristics (underlying diseases, age, etc.) and treatment received. The national situation deserves special attention due to the armed conflict which has afflicted us for more than 50 years and which has left physical, psychological and psychiatric sequelae in thousands of patients, their families and their surroundings. In this revision we intend to update the sequelae observed at the neuropsychiatric level and the procedures that demonstrate beneficial to the recovery from TCE. We also note some procedures and pharmaceuticals, which may have theoretical benefit as yet unproven...


Traumatismo craniano (TCE) é uma das principais causas de consulta na unidade de emergência de todos os hospitais do mundo, com variabilidade na gravidade e conseqüências, de acordo com a fonte, as características dos pacientes (doenças de base, idade, etc.) e os cuidados recebidos. A situação nacional merece uma análise cuidada pelo conflito armado que nos aflige há mais de 50 anos e deixou milhares de pacientes com seqüelas físicas, psicológicas e psiquiátricas, bem como suas famílias e o meio ambiente. Esta revisão visa atualizar o nível observado seqüelas neuropsiquiátricas e procedimentos para a prestação de hoje mostram que a recuperação do TCE. Também conta alguns procedimentos e os medicamentos que poderiam, teoricamente, ter o benefício, porém, isso ainda não é evidencia...


Assuntos
Humanos , Traumatismos Craniocerebrais , Lesões Encefálicas Traumáticas
20.
J Neurol Sci ; 262(1-2): 60-70, 2007 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-17655871

RESUMO

Despite intensive evaluation of acute stroke patients, perhaps only half of the attributable stroke risk is usually identified. In addition to traditional and non-traditional vascular risk factors-including most recently homocysteine, inflammation, and alterations of coagulation-a number of environmental risk factors for stroke have been identified in the last decade. In this update we review the following: lower education and poor socioeconomic status (probable surrogates for exposure to traditional high-risk behaviors such as smoking, poor nutrition, lack of prenatal control, absence of preventive medical and dental care, and non-compliance of treatment of conditions such as hypertension); depression, stress and affective disorders; obstructive sleep apnea; passive smoking and environmental pollution; infections, in particular periodontal diseases that increase C-reactive protein (CRP); raised body mass index (obesity); exercise, and diet. The possible role of high-fructose corn syrup in the epidemic of obesity in the USA is reviewed. Protective diets include higher consumption of fish, olive oil, grains, fruits and vegetables (Mediterranean diet), as well as probiotic bacteria in yogurt and dairy products. Careful attention should be given to the patient's environment looking for modifiable factors. The effects of clean environmental air and water, adequate diet and appropriate nutrition, healthy teeth, exercise, and refreshing sleep in the prevention of stroke and cardiovascular disease appear to be quite compelling. Although some of these modifiable risk factors lack evidence-based information, judicious clinical sense should be used to counteract the potentially damaging effects of adverse environmental vascular risk factors.


Assuntos
Doenças Cardiovasculares/etiologia , Doenças Cardiovasculares/prevenção & controle , Meio Ambiente , Substâncias Perigosas/efeitos adversos , Acidente Vascular Cerebral/etiologia , Acidente Vascular Cerebral/prevenção & controle , Comportamento Alimentar/fisiologia , Humanos , Aptidão Física/fisiologia , Fatores de Risco , Comportamento de Redução do Risco , Fatores Socioeconômicos
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