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1.
Rev Neurol ; 68(5): 199-206, 2019 Mar 01.
Artigo em Espanhol | MEDLINE | ID: mdl-30805918

RESUMO

The fragile X associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disease associated with the repetition of CGG triplets (55-200 CGG repetitions) in the FMR1 gene. The premutation of the FMR1 gene, contrasting with the full mutation (more than 200 CGG repetitions), presents an increased production of messenger and a similar or slightly decreased production of FMRP protein. FXTAS affects 40% of men and 16% of women carriers of the premutation. It presents with a wide constellation of neurological signs such as intention tremor, cerebellar ataxia, parkinsonism, executive function deficits, peripheral neuropathy and cognitive decline leading to dementia among others. In this review, we present what is currently known about the molecular mechanism, the radiological findings and the pathology, as well as the complexity of the diagnosis and management of FXTAS.


TITLE: Sindrome de temblor y ataxia asociado al X fragil: presentacion clinica, patologia y tratamiento.El sindrome de temblor y ataxia asociado al X fragil (FXTAS) es una enfermedad neurodegenerativa relacionada con la premutacion del gen FMR1. Los alelos con premutacion (55-200 repeticiones de CGG), al contrario de los alelos con mutacion completa (mas de 200 repeticiones CGG), tienen una produccion excesiva de ARN mensajero y unos niveles normales o reducidos de proteina. El FXTAS afecta al 40% de los hombres y al 16% de las mujeres portadores de la premutacion de FMR1. Se presenta con una amplia variedad de signos neurologicos, como temblor de intencion, ataxia cerebelosa, parkinsonismo, deficit en la funcion ejecutiva, neuropatia periferica y deterioro cognitivo que conduce a la demencia, entre otros. En esta revision se presenta lo que hasta ahora se conoce del mecanismo molecular, los hallazgos radiologicos y la patologia, asi como tambien la complejidad del diagnostico y el tratamiento del FXTAS.


Assuntos
Ataxia , Síndrome do Cromossomo X Frágil , Tremor , Antidepressivos/uso terapêutico , Ataxia/diagnóstico , Ataxia/diagnóstico por imagem , Ataxia/genética , Ataxia/terapia , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Estimulação Encefálica Profunda , Feminino , Proteína do X Frágil da Deficiência Intelectual/genética , Síndrome do Cromossomo X Frágil/diagnóstico , Síndrome do Cromossomo X Frágil/diagnóstico por imagem , Síndrome do Cromossomo X Frágil/genética , Síndrome do Cromossomo X Frágil/terapia , Humanos , Masculino , Memantina/uso terapêutico , Exame Neurológico , Pregnanolona/uso terapêutico , Avaliação de Sintomas , Tremor/diagnóstico , Tremor/diagnóstico por imagem , Tremor/etiologia , Tremor/genética , Tremor/terapia
2.
Neuroscience ; 254: 1-17, 2013 Dec 19.
Artigo em Inglês | MEDLINE | ID: mdl-24042034

RESUMO

Harnessing the regenerative capabilities of endogenous precursor cells in the spinal cord may be a useful tool for clinical treatments aimed at replacing cells lost as a consequence of disease or trauma. To better understand the proliferative properties and differentiation potential of the adult spinal cord after injury, we used a mouse model of compression spinal cord injury (SCI). After injury, adult mice were administered BrdU to label mitotic cells and sacrificed at different time-points for immunohistochemical analysis. Our data show that the rate of proliferation increased in all regions of the spinal cord 1day after injury, peaked after 3days, and remained elevated for at least 14days after injury. Proliferation was greater at the injury epicenter than in rostral and caudal adjacent spinal segments. The number of proliferative cells and rate of proliferation varied between dorsal and ventral regions of the spinal cord and between the gray and white matter. Newly generated cells expressed markers for progenitor cells (Nestin and Olig2), oligodendrocytes (Sox10), astrocytes (S100b and glial fibrillary acidic protein), and microglia (Iba1), but not neuronal markers (Map2 and NeuN). Marker expression varied with regard to the dorso-ventral region, rostro-caudal proximity to the injury epicenter, and time after injury. At early time-points after injury, BrdU(+) cells mainly expressed microglial/macrophage and astrocytic markers, while at these same time-points in the control spinal cord the mitotic cells predominately expressed oligodendrocyte and oligodendrocyte progenitor cell markers. The profile of proliferation and cell fate marker expression indicates that after moderate compression, the spinal cord has the capacity to generate a variety of glial cells but not neurons, and that this pattern is space and time specific. Future studies should focus on ways to control proliferation and cell fate after injury to aid the development of cell replacement treatments for SCI.


Assuntos
Diferenciação Celular/fisiologia , Proliferação de Células , Compressão da Medula Espinal/metabolismo , Compressão da Medula Espinal/patologia , Traumatismos da Medula Espinal/metabolismo , Traumatismos da Medula Espinal/patologia , Animais , Feminino , Mediadores da Inflamação/metabolismo , Camundongos , Vértebras Torácicas/metabolismo , Vértebras Torácicas/patologia
3.
Kasmera ; 39(1): 43-48, ene.-jun. 2011. tab
Artigo em Espanhol | LILACS | ID: lil-654002

RESUMO

Se determinó la prevalencia del envenenamiento escorpiónico en el Palmar-Edo. Bolívar durante el período comprendido entre enero 2005 y enero 2007. Hubo un total de 9 casos de escorpionismo (0,75 casos/1000 habitantes), afectando principalmente los miembros superiores de varones menores de 30 años, estudiantes, procedentes de zonas rurales. Los casos registrados ocurrieron durante el período lluvioso, entre los meses de abril y agosto. No se registraron casos mortales. Los hallazgos indican una casuística no despreciable de envenenamiento escorpiónico leve, sugiriendo la posible existencia de escorpiones poco tóxicos en la localidad estudiada


The prevalence of scorpion envenomation in El Palmar, State of Bolivar, was determined from January 2005 to January 2007. There were 9 cases of scorpion envenomation (0.75 cases/1000 inhabitants), affecting mainly the superior members of male students less than 30 years old that came from rural regions. Registered cases occurred in the rainy season between April and August. No fatalities were registered. Findings indicate a non-negligible prevalence of trivial scorpion envenomation, suggesting the possible existence of low toxicity scorpions in the locality under study


Assuntos
Humanos , Masculino , Feminino , Intoxicação/epidemiologia , Intoxicação , Prevalência , Venenos de Escorpião/intoxicação
4.
Rev. toxicol ; 18(1): 1-4, ene.-abr. 2001.
Artigo em Es | IBECS | ID: ibc-31072

RESUMO

En la actualidad, un gran número de jóvenes europeos son consumidores habituales de drogas. El despegue económico, la debilidad de las fronteras y la nueva cultura de la música disco entre otras manifestaciones lúdicas donde es ineludible la ingesta de alcohol y 'pastillas', ha dado como resultado que muchas drogas caategorizadas como ilegales, sean más baratas, puras y accesibles que a principio de la década de los noventa. Ante la seriedad del problema, responsables sanitarios han puesto en marcha estrategias como la reducción de daños basadas fundamentalmente en la prevención y la asistencia y se han comenzado a revisar las sentencias a los drogodependientes. Coincidiendo con la disminución del consumo de heroína, se ha prestado mucha atención a las restantes drogas de abuso que ahora figuran al mismo nivel en los planes de asistencia. Como parte de una nueva forma de cultura, muchos jóvenes europeos consumen preferentemente cannabis, éxtasis y cocaina además de alcohol. Con la introducción de nuevas drogas de abuso, asistimos también al fenómeno del policonsumo y sus diversas implicaciones. Como posible solución, diferentes paises europeos han adoptado tendencias liberalizadoras, que unido a los cambios en el consumo, permiten asistir a una nueva tendencia en el consumo de drogas (AU)


Assuntos
Humanos , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Estratégias de Saúde Nacionais , Fatores Culturais , Fatores de Risco
5.
Nutr Hosp ; 6(5): 276-82, 1991.
Artigo em Espanhol | MEDLINE | ID: mdl-1760479

RESUMO

A review was performed of the progress made with the assistance of computers in the parenteral and enteral nutrition field as one more of the many uses made today of the computer industry. Detailed analysis is presented by the authors of the different types of hardware used, as well as the main characteristics and content of the programmes and applications existing in this field, both restricted to small working groups and in management. A comparative study was also made of the management programmes distributed free of charge by some laboratories. Finally, an evaluation was made of the advantages and disadvantages of using computers in parenteral and enteral nutrition at present.


Assuntos
Nutrição Enteral , Aplicações da Informática Médica , Nutrição Parenteral , Computadores , Nutrição Enteral/instrumentação , Humanos , Nutrição Parenteral/instrumentação , Software
8.
Rev Iber Endocrinol ; 22(127): 43-60, 1975.
Artigo em Espanhol | MEDLINE | ID: mdl-1145006

RESUMO

In this study, with the evaluation of 621 diabetics under treatment, it is shown that glipizide is a potent oral sulfonilurea which controlled satisfactorily the blood sugar levels in 83,5% of diabetics without previous treatment, 67% of the cases with positive response to previous anti-diabetic therapy and 51,3% of the patients that had not responded to previous treatments. The most frecuently used dosage was 5 mg daily, with a minimum of 2,5 mg and a maximum of 30 mg. Tolerance and safety observed was excellent.


Assuntos
Diabetes Mellitus/tratamento farmacológico , Glipizida/uso terapêutico , Compostos de Sulfonilureia/uso terapêutico , Administração Oral , Adulto , Idoso , Avaliação de Medicamentos , Glipizida/administração & dosagem , Glipizida/efeitos adversos , Humanos , Masculino , Pessoa de Meia-Idade , Espanha , Fatores de Tempo
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