[The relation between the HLA-DRB1*1501 allele and the severity of multiple sclerosis in a sample of the Spanish population from the Balearic Islands: the influence exerted by sex]. / Relación entre el alelo HLA-DRB1*1501 y la gravedad de la esclerosis múltiple en una muestra de población española perteneciente a las Islas Baleares: influencia del sexo.

INTRODUCTION: There is some controversy about the possible relation between HLA-DR2 (DRB1*1501-DRB5*0101-DQA1*0102-DQB1*0602) and the severity of multiple sclerosis (MS), which could be due, at least in part, to methodological differences among the different studies dealing with this subject and/or to a lack of phenotypic homogeneity within the series of patients. AIMS: This study aims to contribute information about the possible relation between DR2 (more specifically the HLA-DRB1*1501 allele) and the severity of MS. PATIENTS AND METHODS: We conducted a study of 43 individuals with clinically defined MS, whose degree of severity was determined using Kurtzke's EDSS, and 107 controls from a similar ethnic origin. DETERMINATIONS: HLA typing by PCR-SSO and PCR-SSP, analysis of oligoclonal IgG bands in CSF by isoelectric focusing, and quantification of the intrathecal synthesis of IgG (IgG index, IgG ratio, Reiber's formula and Tourtellotte's formula). STATISTICS: Chi2 test, Mann-Whitney test and Kendall correlation coefficient. RESULTS: DRB1*1501 is associated with the presence of MS only in females and with lower severity of the disease only in males. These associations do not appear to depend on any kind of effect exerted by DRB1*1501 on the intrathecal synthesis of IgG that differs between the two sexes. CONCLUSIONS: The absence of a relation between DRB1*1501 and the severity of MS reported in many studies could be due to not stratifying the patients according to sex. Our findings emphasise how important it is in genetic studies of complex traits to reduce the phenotypic heterogeneity of patients as much as possible.

Relación entre el alelo HLA-DRB1*1501 y la gravedad de la esclerosis múltiple en una muestra de población española perteneciente a las Islas Baleares: influencia del sexo / The relation between the hla-drb1*1501allele and the severity of multiple sclerosis in a sample of the spanish population from the Balearic Islands: the influence exerted by sex

Introducción. Hay controversia en cuanto a la posible relación entre HLA-DR2 (DRB1*1501-DRB5*0101-DQA1*0102DQB1*0602) y la gravedad de la esclerosis múltiple (EM), lo que puede deberse, almenos en parte, a diferencias metodológicas entre los diferentes estudios que han abordado este tema y/o falta de homogeneidad fenotípica dentro de las series de pacientes. Objetivo. Aportar información acerca de la posible relación entre DR2 (concretamente el alelo HLA-DRB1*1501) y la gravedad de la EM. Pacientes y métodos. Hemos estudiado 43 individuos con EM clínicamente definida, cuya gravedad se ha establecido mediante la EDSS de Kurtzke, y 107 controles de origen étnico similar. Se realizaron las siguientes determinaciones: tipificación HLA mediante PCR-SSO y PCR-SSP, análisis de bandas oligoclonales de IgG en el LCR por isoelectroenfoque, y cuantificación de la síntesis intratecal de IgG (índice de IgG, ratio de IgG, fórmula de Reiber y fórmula de Tourtellotte). Se aplicaron las siguientes pruebas estadística: test 2, test de Mann-Whitney y coeficiente de correlación Kendall. Resultados. DRB1*1501se asocia a la presencia de EM sólo en mujeres, y a una menor gravedad de la enfermedad sólo en hombres. Estas asociaciones no parecen depender de algún efecto de DRB1*1501 sobre la síntesis intratecal de IgG que sea diferente en ambos sexos. Conclusiones. La ausencia de relación entre DRB1*1501 y la gravedad de la EM descrita en muchos estudios podría obedecer a la falta de estratificación de los pacientes por sexo. Nuestros resultados resaltan la importancia que tiene para los estudios genéticos de rasgos complejos reducir lo máximo posible la heterogeneidad fenotípica de los pacientes (AU)

Introduction. There is some controversy about the possible relation between HLA-DR2 (DRB1*1501-DRB5*0101- DQA1*0102-DQB1*0602) and the severity of multiple sclerosis (MS), which could be due, at least in part, to methodological differences among the different studies dealing with this subject and/or to a lack of phenotypic homogeneity within the series of patients. Aims. This study aims to contribute information about the possible relation between DR2 (more specifically the HLA-DRB1*1501 allele) and the severity of MS. Patients and methods. We conducted a study of 43 individuals with clinically defined MS, whose degree of severity was determined using Kurtzke’s EDSS, and 107 controls from a similar ethnic origin. Determinations: HLA typing by PCR-SSO and PCR-SSP, analysis of oligoclonal IgG bands in CSF by isoelectric focusing, and quantification of the intrathecal synthesis of IgG (IgG index, IgG ratio, Reiber’s formula and Tourtellotte’s formula). Statistics: c 2 test, Mann-Whitney test and Kendall correlation coefficient. Results. DRB1*1501 is associated with the presence of MS only in females and with lower severity of the disease only in males. These associations do not appear to depend on any kind of effect exerted by DRB1*1501 on the intrathecal synthesis of IgG that differs between the two sexes. Conclusions. The absence of a relation between DRB1*1501 and the severity of MS reported in many studies could be due to not stratifying the patients according to sex. Our findings emphasise how important it is in genetic studies of complex traits to reduce the phenotypic heterogeneity of patients as much as possible (AU)

[Medicine and law. Legal aspects of the epilepsies]. / Medicina y derecho. Aspectos jurídicos de las epilepsias.

In this paper we review the relation between epilepsy and the law, more precisely with regard to penal and civil law. Since the new Spanish penal code came into effect in 1996, and especially in view of recent advances in medical knowledge, it is important for doctors and lawyers to make an effort to develop a language which is common to both professions. We particularly refer to the psychiatric comorbidity of epilepsy, especially the association between violence and epilepsy, in the context of psychotic changes in epilepsy. The subject is still under discussion. In the future a consensus must be reached between all the professions involved to ensure correct practice when managing the psychiatric comorbidity of epilepsy.

[Evoked potentials and their application in epilepsy]. / Potenciales evocados y su aplicaci n en epilepsia.

INTRODUCTION: Evoked potentials (PE) are used in a technique for functional exploration of the central nervous system which allows a response to be generated following repeated sensory stimulation. There are different modalities according to the stimulus used. The most frequently used are visual, auditory and somestesic stimuli. There are also cognitive endogenous potentials. Each response requires the use of specific methods to obtain it. DEVELOPMENT: In this paper we present a summary of the methodology for obtaining evoked potentials and also a review of their application in the field of epilepsy. There are different findings in studies using PE which are characteristic of certain syndromes in which epileptic seizures occur. Correlation of alterations in PE with the clinical findings may be of help in studying the physiopathology of epilepsy and subsequent follow up, especially for the study of cognitive functions.

Aspectos jurídicos de las epilepsias / Medicine and law. Legal aspects of the epilepsies

Se revisa en este artículo la relación entre epilepsia y derecho, y de forma más concreta en las facetas del derecho penal y civil. Tras la entrada en vigor del nuevo código penal español, en 1996, y sobre todo a la luz de los nuevos conocimientos médicos, es importante aunar esfuerzos entre juristas y médicos para que se pueda tener un lenguaje común entre ambos profesionales. Se incide especialmente en la comorbilidad psiquiátrica de la epilepsia y de forma especial en la asociación entre violencia y epilepsia, en el contexto de las alteraciones psicóticas en la epilepsia. Es un tema todavía no cerrado y en el que en un futuro deberá alcanzarse un consenso entre todos los profesionales afectados para la correcta praxis profesional en el manejo de la comorbilidad psiquiátrica de la epilepsia (AU)

Potenciales evocados y su aplicación en epilepsia / Evoked potentials and their application in epilepsy

Introducción. Los potenciales evocados (PE) son una técnica de exploración funcional del sistema nervioso que permite obtener una respuesta generada tras un estímulo sensorial repetido. Existen diferentes modalidades según el estímulo empleado. Los más frecuentes son los visuales, auditivos y somestésicos. También existen potenciales endógenos cognitivos. Cada respuesta tiene unas características metodológicas propias para su obtención. Desarrollo. En este trabajo presentamos un resumen de la metodología para la realización de potenciales evocados, así como una revisión de su aplicación en el campo de la epilepsia. Existen diferentes hallazgos en los PE que son característicos de algunos síndromes que cursan con crisis epilépticas. La correlación de alteraciones en los PE con la clínica puede ser de ayuda en el estudio de la fisiopatología de la epilepsia, así como en el seguimiento del paciente, especialmente para valorar la respuesta al tratamiento y el estudio de funciones cognitivas (AU)

[Epidemiologic study of post-traumatic epilepsy on the Island of Majorca]. / Estudio epidemiológico de la epilepsia postraumática en la isla de Mallorca.

The epidemiological study of post-traumatic epilepsy after 10 years of follow-up on the island of Mallorca is reported. The double prospective and retrospective method was used for patient selection. Prospectively, 23,082 isolated head injuries were studied in the Hospital of Son Dureta in Palma de Mallorca between the years 1980 to 1988. Retrospectively, 663 epileptics proceeding from different data bases of different centers were studied. Two hundred and twelve post-traumatic epilepsies of certain etiology were identified. Results are discussed with regard to age, sex and latency time found. Special emphasis is made in that benign cerebral concussion is not causing seizures. A prevalence of 4% of post traumatic epilepsy is found in the population of risk head injuries, and post-traumatic epilepsy represents 7% of the total of the casuist of epileptic patients.