Pancreatitis aguda inducida por carbamacepina / Carbamacepine induced pancreatitis

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[The use of magnetic resonance imaging in the study of asymptomatic familial multiple sclerosis patients]. / Estudio de pacientes asintomáticos de esclerosis múltiple familiar mediante resonancia magnética.

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.

Estudio de pacientes asintomáticos de esclerosis múltiple familiar mediante resonancia magnética / The use of magnetic resonance imaging in the study of asymptomatic familial multiple sclerosis patients

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)