[Functional connectivity derived from an electroencephalogram during non-REM sleep in autism spectrum disorders]. / Conectividad funcional derivada del electroencefalograma durante el sueño no REM en los trastornos del espectro autista.

AIM: To know the differences in the patterns of functional connectivity, the topological characteristics of the network and the relationship between these latter and the interictal epileptiform anomalies in children with primary and secondary autism spectrum disorder (ASD). PATIENTS AND METHODS: A retrospective study was conducted with 27 children aged between 3 and 13 years diagnosed with ASD. Subjects were submitted to an electroencephalogram in a functional state of spontaneous sleep. Functional connectivity and the properties of the network were analysed using data obtained from the electroencephalogram during the N2 stage of non-REM sleep. The frequency of discharge of the interictal epileptiform activity (FDIEA) was determined and was correlated with the topological properties of the network. RESULTS: Synchronisation was diminished in patients with secondary ASD for the alpha frequency and increased for the theta and delta frequency compared with patients with primary ASD. Local alpha efficiency was higher in patients who presented interictal epileptiform activity. Additionally, in patients with secondary ASD there was a statistically significant positive and negative correlation between FDIEA and the topological properties of the network. CONCLUSIONS: Patients with secondary ASD display patterns of functional connectivity that are weaker for the alpha frequency and stronger for theta and delta than patients with primary ASD. In patients with secondary ASD, the interictal epileptiform activity is related to local and global connectivity of the network for the alpha and beta bands during non-REM sleep.

TITLE: Conectividad funcional derivada del electroencefalograma durante el sueño no REM en los trastornos del espectro autista.Objetivo. Conocer las diferencias en los patrones de conectividad funcional, las caracteristicas topologicas de la red y la relacion de estas con las anomalias epileptiformes interictales en niños con trastorno del espectro autista (TEA) primario y secundario. Pacientes y metodos. Se realizo un estudio retrospectivo con 27 niños de 3-13 años diagnosticados con TEA, a los que se les realizo un electroencefalograma en estado funcional de sueño espontaneo. Se analizo la conectividad funcional y las propiedades de la red a partir de los datos obtenidos del electroencefalograma durante la etapa N2 del sueño no REM. Se determino la frecuencia de descarga de la actividad epileptiforme interictal (FDAEI) y se correlaciono con las propiedades topologicas de la red. Resultados. Los pacientes con TEA secundario tenian una disminucion de la sincronizacion para la frecuencia alfa y un incremento para la frecuencia theta y delta en comparacion con los pacientes con TEA primario. La eficiencia local alfa fue mayor en los pacientes que presentaban actividad epileptiforme interictal. Ademas, en los pacientes con TEA secundario, existia una correlacion positiva y negativa estadisticamente significativa entre la FDAEI y las propiedades topologicas de red. Conclusiones. Los pacientes con TEA secundario muestran patrones de conectividad funcional mas debiles para la frecuencia alfa y mas fuerte para la theta y delta que los pacientes con TEA primario. En pacientes con TEA secundario, la actividad epileptiforme interictal se relaciona con la conectividad local y global de la red para las bandas de frecuencia alfa y beta durante el sueño no REM.

[A clinical and epidemiological description of a series of patients diagnosed as suffering from progressive supranuclear palsy]. / Descripción clínica y epidemiológica de una serie de pacientes con diagnóstico de parálisis supranuclear progresiva.

INTRODUCTION: Progressive supranuclear palsy is a disease that normally presents only sporadically in adults and courses in a progressive, chronic manner. It is characterised by the presence of supranuclear ophthalmoplegia, postural instability, a Parkinsonian syndrome, pseudobulbar affect, cervical dystonia and cognitive impairment. PATIENTS AND METHODS: We conducted a descriptive study of clinical and epidemiological features in a series of 18 patients who satisfied the mandatory NINDS-SPSP clinical eligibility criteria for the likely diagnosis of progressive supranuclear palsy, using the scale developed by Golbe et al. RESULTS AND CONCLUSIONS: The mean age of onset of the disease was 58.6 +/- 8.2 years, 55.5% of the patients were males, the average history of the disease at the time of diagnosis was 4.39 +/- 2.3 years, and there was a diagnostic subregister in the first 4 years of the disease. Gait disorders, falls and slowness were the most frequently observed presenting forms of the disease. During their first four years with the disease, 75% of the patients were totally independent when it came to carrying out activities of daily living, whereas after the fourth year there was a predominance of the need for aid and absolute dependence. Dysphagia was more frequent in the later stages of the disease. Ocular motility disorders and impaired cognitive functioning were obvious in the initial stages of the disease, and there was a strong correlation between the length of time the disease had been coursing and the severity of the ocular and cognitive disorders.

Descripción clínica y epidemiológica de una serie de pacientes con diagnóstico de parálisis supranuclear progresiva / A clinical and epidemiological description of a series of patients diagnosed as suffering from progressive supranuclear palsy

Introducción. La parálisis supranuclear progresiva es una enfermedad de curso crónico progresivo, de presentación fundamentalmente esporádica en el adulto, que se caracteriza por la presencia de oftalmoplejía supranuclear, inestabilidad postural, síndrome parkinsoniano, afectación seudobulbar, distonía cervical y deterioro cognitivo. Pacientes y métodos. Realizamos un estudio descriptivo sobre aspectos clínicos y epidemiológicos en una serie de 18 pacientes que cumplían los criterios clínicos mandatarios de inclusión (NINDS-SPSP) para el diagnóstico probable de parálisis supranuclear progresiva, utilizando la escala de Golbe et al. Resultados y conclusiones. La edad de inicio promedio de la enfermedad fue de 58,6 ñ 8,2 años, el 55,5 por ciento de los pacientes pertenecen son varones, el tiempo medio de evolución de la enfermedad hasta el momento del diagnóstico fue de 4,39 ñ 2,3 años, y existía un subregistro diagnóstico en los primeros cuatro años de la enfermedad. Los trastornos de la marcha, las caídas y la lentitud constituyeron las formas más frecuente de debut de la enfermedad. El 75 por ciento de los pacientes en los primeros cuatro años de evolución era totalmente independiente para realizar las actividades de la vida cotidiana, mientras que después de los cuatro años predominaba la necesidad de asistencia y la dependencia absoluta. La disfagia fue más frecuente en etapas tardías de la enfermedad. La afectación de la motilidad ocular y la función cognitiva fue evidente en las etapas iniciales de la enfermedad, y existió una alta correlación entre el tiempo de evolución de la enfermedad y la gravedad de la afectación ocular y cognitiva (AU)

y. Introduction. Progressive supranuclear palsy is a disease that normally presents only sporadically in adults and courses in a progressive, chronic manner. It is characterised by the presence of supranuclear ophthalmoplegia, postural instability, a Parkinsonian syndrome, pseudobulbar affect, cervical dystonia and cognitive impairment. Patients and methods. We conducted a descriptive study of clinical and epidemiological features in a series of 18 patients who satisfied the mandatory NINDS-SPSP clinical eligibility criteria for the likely diagnosis of progressive supranuclear palsy, using the scale developed by Golbe et al. Results and conclusions. The mean age of onset of the disease was 58.6 ± 8.2 years, 55.5% of the patients were males, the average history of the disease at the time of diagnosis was 4.39 ± 2.3 years, and there was a diagnostic subregister in the first 4 years of the disease. Gait disorders, falls and slowness were the most frequently observed presenting forms of the disease. During their first four years with the disease, 75% of the patients were totally independent when it came to carrying out activities of daily living, whereas after the fourth year there was a predominance of the need for aid and absolute dependence. Dysphagia was more frequent in the later stages of the disease. Ocular motility disorders and impaired cognitive functioning were obvious in the initial stages of the disease, and there was a strong correlation between the length of time the disease had been coursing and the severity of the ocular and cognitive disorders (AU)

[Corticospinal dysfunction in patients with primary and amyotrophic lateral sclerosis]. / Disfunción corticoespinal en pacientes con esclerosis lateral primaria y amiotrófica.

INTRODUCTION: Corticoespinal dysfunction is a common finding in primary and amyotrophic lateral sclerosis (PLS and ALS). AIM. To compare the behaviour of motor evoked potentials (MEP) with transcranial magnetic stimulation (TMS) in patients with ALS and PLS. PATIENTS AND METHODS: It was performed a retrospective analysis of MEP recordings of 11 patients with PLS and 10 patients with sporadic ALS. Central motor conduction time and amplitude ratio were the selected variables for the statistical analysis of MEP from abductor pollicis brevis and tibialis anterior muscle from the four limbs, using non-parametric methods. RESULTS: As a general observation there was a high incidence of abnormal recordings in both groups of patients; in 30% of recording from ALS patients response to TMS was absent, but only the 4.5% in the group of PLS had the same characteristic. In PLS patients abnormal central motor conduction time was the most frequent finding, as it was the low amplitude ratio in ALS patients; both variables showed statistically significant differences between groups (Kruskall-Wallis, H = 6.32, p = 0.011; and Kruskall-Wallis, H = 5.777, p = 0.0163, respectively). CONCLUSION: Corticoespinal dysfunction has different characteristics in ALS and PLS patients, and the analysis of MEP could add useful information for differential diagnosis of these diseases.

Disfunción corticoespinal en pacientes con esclerosis lateral primaria y amiotrófica / Corticospinal dysfunction in patients with primary and amyotrophic lateral sclerosis

Corticoespinal dysfunction is a common finding in primary and amyotrophic lateral sclerosis (PLS and ALS). AIM. To compare the behaviour of motor evoked potentials (MEP) with transcranial magnetic stimulation (TMS) in patients with ALS and PLS. It was performed a retrospective analysis of MEP recordings of 11 patients with PLS and 10 patients with sporadic ALS. Central motor conduction time and amplitude ratio were the selected variables for the statistical analysis of MEP from abductor pollicis brevis and tibialis anterior muscle from the four limbs, using non-parametric methods. As a general observation there was a high incidence of abnormal recordings in both groups of patients; in 30 percent of recording from ALS patients response to TMS was absent, but only the 4,5 percent in the group of PLS had the same characteristic. In PLS patients abnormal central motor conduction time was the most frequent finding, as it was the low amplitude ratio in ALS patients; both variables showed statistically significant differences between groups (Kruskall-Wallis, H = 6,32, p = 0,011; and Kruskall-Wallis, H = 5,777, p = 0,0163, respectively). Corticoespinal dysfunction has different characteristics in ALS and PLS patients, and the analysis of MEP could add useful information for differential diagnosis of these diseases(AU)

Enfermedad de Gaucher. A propósito de un caso / Gaucher disease. A case report

No disponible

No disponible

Síndrome diarreico prolongado debido a la administración de carbamacepina / Prolonged syndrome of diarrhoea due to the administration of carbamazepine

No disponible

No disponible

[Database application for information on post-surgical evolution after functional neurosurgery]. / Programa de base de datos sobre evolución posquirúrgica de la neurocirugía funcional.

INTRODUCTION: A series of quantitative scales have been established internationally to evaluate the functional state of patients affected by movement disorders, such as Parkinson s disease. The values of these parameters offered by each patient, measured at different moments during his or her illness, allow us to conduct studies into their evolution as well as perform statistical studies about the casuistics. AIM. To provide a tool that enables us to study this vast amount of material in an efficient, sure and, above all, automated manner. Materials and methods. We selected the most interesting variables from the international protocols. We also designed and developed a database application for use under the Windows environment using Delphi 3.0 language and compiler and Structured Query Language. RESULTS: We designed, developed and validated a database system so as to be able to handle automatically the information on the clinical evolution of patients who had undergone functional neurosurgery. This system not only enables us to collect all relevant pre and post surgical information but also allows fast searches and selection, data processing using descriptive statistical techniques and the exportation of the data in a standard format. The system, which also allows final double blind clinical evaluation of each patient to be performed, has been used successfully in the Movement Disorders Clinic at the CIREN for over three years. CONCLUSIONS: This system allows for a considerable saving in the amount of time and effort needed for the post surgical evolution of patients, while also increasing the reliability of the results obtained.

Programa de base de datos sobre evolución posquirúrgicade la neurocirugía funcional / Database application for information on post-surgical evolution after functional neurosurgery

Introducción. Internacionalmente se han establecido una serie de escalas cuantitativas de evaluación del estado funcional de pacientes afectados por trastornos del movimiento, como la enfermedad de Parkinson. Los valores de estos parámetros en cada paciente, medidos en diferentes momentos de su enfermedad, permiten realizar estudios evolutivos en cada uno de ellos, así como estudios estadísticos de la casuística. Objetivo. Contar con una herramienta automatizada para el estudio de todo este volumen de información de forma eficiente y segura. Materiales y métodos. Se seleccionaron las variables de mayor interés de los protocolos internacionales, además de diseñar y desarrollar un programa de base de datos en entorno Windows, utilizando el lenguaje y compilador Delphi 3.0. y el lenguaje estructurado de consultas. Resultados. Se diseñó, desarrolló y validó un sistema de base de datos para el manejo automatizado de la información de la evolución clínica de los pacientes de la neurocirugía funcional, que no sólo permite la recogida de toda la información pre y posquirúrgica de relevancia, sino también su rápida búsqueda y selección, su procesamiento estadístico descriptivo y su exportación en formato estándar. El sistema, que posibilita además la realización de una evaluación clínica final doble a ciegas de cada paciente, se utiliza con éxito en la Clínica de Trastornos del Movimiento del CIREN, desde hace más de tres años. Conclusiones. Este sistema permite un considerable ahorro de tiempo y esfuerzo para el estudio de la evolución posquirúrgica de los pacientes, así como un aumento de la fiabilidad de los resultados (AU)