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2.
Rev Clin Esp (Barc) ; 215(7): 415, 2015 Oct.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-25824898
13.
Rev Neurol ; 37(9): 811-4, 2003.
Artigo em Espanhol | MEDLINE | ID: mdl-14606046

RESUMO

INTRODUCTION: Multiple sclerosis (MS) is the neurological non-traumatic disease that produces permanent incapacity in the young people with the greatest frequency. An almost total consensus exists on the implication of environmental and genetic factors in the pathogenesis of the disease. In a considerable percentage of patients, antecedent relatives of other cases of MS exist, who are separated by other healthy relatives sometimes. AIMS: We try to study the familial antecedents of the MS patients, to locate to the healthy members of the family including in the forced line of the possible genetic transmission of the disease and ruling out subclinical involvement by the use of magnetic resonance imaging (MRI). PATIENTS AND METHODS: We reviewed the familial antecedents of the MS patients followed by the MS Unit of the Service of Neurology of the Hospital Virgen Macarena of Seville. After the accomplishment of their genealogical trees, we identified the cases of familial MS. We locate and practice MRI on the healthy subjects of the family, who are in the genetic line of communication of the disease (obligate carriers). RESULTS AND CONCLUSIONS: We were able to identify 14 obligate carriers of the gene in 12 of the families. In the MRIs that were done, we found MS-compatible lesions in 10 subjects. These findings confirm the existence of silent forms of the disease, that make difficult the knowledge of the genetic implications in the pathogenesis of the disease.


Assuntos
Encéfalo/patologia , Imageamento por Ressonância Magnética , Esclerose Múltipla/genética , Idoso , Estudos de Coortes , Feminino , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/patologia , Linhagem , Estudos Retrospectivos , Espanha/epidemiologia
14.
Rev. neurol. (Ed. impr.) ; 37(9): 811-814, nov. 2003. ilus, tab
Artigo em Es | IBECS | ID: ibc-28236

RESUMO

Introducción. La esclerosis múltiple (EM) es una enfermedad autoinmune que provoca la inflamación y destrucción de la mielina del sistema nervioso central. Es la enfermedad neurológica, no traumática, que con más frecuencia produce incapacidad permanente en los jóvenes. Existe un consenso, casi total, sobre la implicación de factores ambientales y genéticos en la patogénesis de la enfermedad. En un porcentaje considerable de pacientes, existen antecedentes familiares de otros casos de EM. Objetivos. Estudiar los antecedentes familiares de los pacientes de EM, localizar a los miembros de la familia sanos incluidos en la línea obligada de la posible transmisión genética de la enfermedad y descartar afectación subclínica mediante resonancia magnética (RM). Pacientes y métodos. Revisamos los antecedentes familiares de los pacientes con EM seguidos por la Unidad de Seguimiento de EM del Servicio de Neurología del Hospital Virgen Macarena de Sevilla. Tras la realización de sus árboles genealógicos, identificamos los casos de EM familiar. Se localizó a los sujetos sanos de la familia, portadores obligados, que se encontraban en la línea de transmisión genética de la enfermedad y y se realizó una RM . Se comparan los resultados con los obtenidos de un pequeño grupo de controles. Resultados y conclusiones. Conseguimos identificar a 14 portadores obligados claros en 12 de las familias. En las RM realizadas, se encontraron lesiones compatibles con EM en 10 sujetos. Estos hallazgos confirman la existencia de formas silentes de la enfermedad, que dificultan el conocimiento de la implicación genética en la patogénesis de la enfermedad. En los 12 controles, ninguna RM fue compatible con lesiones desmielinizantes (AU)


Introduction. The multiple sclerosis (MS) is the neurological non traumatical disease, that produces permanent incapacity in the young people with more frequency. A consensus, almost total exists, on the implication of environmental and genetic factors in the pathogenesis of the disease. In a considerable percentage of patients, antecedent relatives of other cases of MS exist, who are separated by other healthy relatives sometimes. Aims. We try to study the familiar antecedents of the MS patients, to locate to the healthy members of the family including in the forced line of the possible genetic transmission of the disease and discarding subclinical affectation by the use of magnetic resonance imaging (RMI). Patients and methods. We reviewed the familiar antecedents of the patients with MS followed by the Unit of MS of the Service of Neurology of the Hospital Virgen Macarena of Seville. After the accomplishment of its genealogical trees, we identified the cases of familial MS. We locate and practice RMI to the healthy subjects of the family, who are in the genetic line of communication of the disease (forced carriers). Results and conclusions. We were able to identify 14 forced carriers of the gene in 12 of the families. In the RMI that were done, we found MS compatible injuries in 10 subjects. These findings confirm the existence of silent forms of the disease, that make difficult the knowledge of the genetic implication in the pathogenesis of the disease (AU)


Assuntos
Pessoa de Meia-Idade , Idoso , Masculino , Feminino , Humanos , Imageamento por Ressonância Magnética , Espanha , Estudos de Coortes , Esclerose Múltipla , Linhagem , Estudos Retrospectivos , Heterozigoto , Telencéfalo
16.
Actas Urol Esp ; 27(3): 221-5, 2003 Mar.
Artigo em Espanhol | MEDLINE | ID: mdl-12812120

RESUMO

Ganglioneuroma is a benign neoplasm arising from neural crest tissue and is composed of mature ganglion cells and Schwann's cells. Most ganglioneuromas arise in the posterior mediastinum followed by the retroperitoneum. Only a small proportion of ganglioneuromas are adrenal in origin and occur most commonly in children and young adults. Characteristically, ganglioneuromas do not secrete excess catecholamines or steroid hormones, and they are usually clinically silent lesions incidentally detected in imaging studies for unrelated reasons. Because it is an uncommon lesion, adrenal ganglioneuromas is not included in the differential diagnosis of adrenal incidentalomas in adults. We presents a new case of a 6.5 cm adrenal ganglioneuroma incidentally diagnosed in a 50-year old male patient. The exeresis of the adrenal mass and pathohistological study confirmed the diagnosis.


Assuntos
Neoplasias das Glândulas Suprarrenais/patologia , Ganglioneuroma/patologia , Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Neoplasias das Glândulas Suprarrenais/cirurgia , Ganglioneuroma/diagnóstico por imagem , Ganglioneuroma/cirurgia , Humanos , Achados Incidentais , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X , Ultrassonografia
18.
Actas urol. esp ; 27(3): 221-225, mar. 2003.
Artigo em Es | IBECS | ID: ibc-22593

RESUMO

El ganglioneuroma es una neoplasia benigna derivada de la cresta neural, compuesta de células ganglionares maduras y células de Schwann. La mayoría se localizan en el mediastino posterior, seguido del retroperitoneo. Sólo una pequeña proporción de ganglioneuromas se originan en la médula suprarrenal, siendo más frecuentes en niños y adultos jóvenes. Característicamente, los ganglioneuromas no secretan catecolaminas ni hormonas esteroideas, por lo que suelen ser lesiones clínicamente silentes que son detectadas incidentalmente en estudios de imagen realizados por otros motivos no relacionados. Por ser lesiones infrecuentes, los ganglioneuromas no suelen ser incluidos en el diagnóstico diferencial de los incidentalomas suprarrenales, particularmente en adultos. Presentamos un nuevo caso de ganglioneuroma suprarrenal de 6,5 cm, diagnosticado incidentalmente en un paciente de 50 años de edad. La exéresis de dicha masa y su posterior estudio histopatológico confirmaron el diagnóstico (AU)


No disponible


Assuntos
Pessoa de Meia-Idade , Masculino , Humanos , Tomografia Computadorizada por Raios X , Achados Incidentais , Ganglioneuroma , Neoplasias das Glândulas Suprarrenais
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