[Valuation of automatized ASPECTS as an artificial intelligence tool in daily clinical]. / Valoración del ASPECTS automatizado como herramienta de inteligencia artificial en la práctica clínica diaria.

AIMS: To evaluate an automated ASPECTS (ASPECTS-a) software against two radiologists' reading of CT scans requested from the Emergency Department. Describe the most frequent failures of the ASPECTS-a. MATERIAL AND METHODS: All the cranial CT Scans requested by the Emergency Department in one month were collected. The following data were recorded: age, sex, the reason for requesting the study, and imaging findings. A program was used that provides an ASPECTS score automatically. Subsequently, 2 radiologists independently reviewed all of the studies and provided the visual ASPECTS (ASPECTS-v). In case of discrepancy, a new reading was made by consensus. RESULTS: A total of 295 brain CT scans (45.1% male) with a mean age of 65 ± 20.0 years were included. 91.8% were interpreted as ASPECTS-v 10 in both cerebral hemispheres by both readers. ASPECTS-a scored 45% with ASPECTS 10 in both cerebral hemispheres. In 152 (51.5%) the ASPECTS-a and the ASPECTS-v did not coincide. The causes of the discrepancy were mainly due to segmentation errors (usually due to asymmetric atrophies). Most of the segmentation errors were located in the head of the caudate nucleus, observed in 60 studies. CONCLUSIONS: ASPECTS-a is a powerful and helpful tool, but human supervision is always necessary, particularly in groups of patients with pre-existing brain changes.

TITLE: Valoración del ASPECTS automatizado como herramienta de inteligencia artificial en la práctica clínica diaria.Objetivos. Evaluar un software del Alberta Stroke Program Early CT Score (ASPECTS) automatizado (ASPECTS-a) frente a la lectura de dos radiólogos en las tomografías computarizadas (TC) solicitadas desde el servicio de urgencias. Describir los fallos más frecuentes del ASPECTS-a. Material y métodos. Se recogieron las TC cerebrales solicitadas por el servicio de urgencias en el período de un mes. Se registraron los siguientes datos: edad, sexo, motivo de solicitud del estudio y hallazgos en la prueba de imagen. Se utilizó un programa que proporciona una puntuación del ASPECTS automáticamente. Posteriormente, dos radiólogos examinaron de forma independiente todos los estudios y realizaron un ASPECTS visual (ASPECTS-v). En caso de discrepancia, se hizo una nueva lectura en consenso. Se compararon los resultados del ASPECTS-a con el ASPECTS-v. Resultados. Se realizaron un total de 295 TC cerebrales urgentes con una edad media de 65 ± 20 años. El 91,8% lo interpretaron los dos lectores como ASPECTS 10 en ambos hemisferios cerebrales. El ASPECTS-a puntuó el 45% con ASPECTS 10 en ambos hemisferios cerebrales. En 152 (51,5%), el ASPECTS-a y el ASPECTS-v no coincidieron. Las causas de la discrepancia fueron fundamentalmente por errores en la segmentación (generalmente por atrofias asimétricas). La mayor parte de los errores en la segmentación se localizaban en la cabeza del núcleo caudado, lo que se observó en 60 estudios. Conclusiones. El ASPECTS-a es una herramienta potente y de gran ayuda, pero siempre es necesaria una supervisión humana, particularmente en grupos de pacientes con cambios cerebrales preexistentes.

Analysis of direct, indirect, and intangible costs of epilepsy.

INTRODUCTION: A financial estimate has been made of the costs of epilepsy in adults. METHODS: A prospective, observational study, over a period of 6 months, on epileptic patients over 14 years-old. Patients with concomitant diseases that could influence the outcome of the epilepsy were excluded. The direct costs included: treatment received, number of visits to neurology, primary care, and emergencies, number of days admitted to hospital, number and type of diagnostic tests, use of transport to and from hospital, and psychopedagogic and social support due to the epilepsy. The indirect costs were analysed according to, loss of work productivity of the patients, taking into account families where the patient needed supervision due to epilepsy. The total costs were derived from the sum of the direct and indirect costs. The intangible costs were calculated according to QOLIE-10 questionnaire. RESULTS: The mean direct cost per patient was 1,055.2 €. The mean indirect financial costs came to 1,528.8 € per patient. The total cost associated to epilepsy was a mean of 2,584 € for each patient, mainly arising from loss of work days (p<.05). For intangible costs according to the QOLIE-10 scale a mean of 77.8 was obtained. CONCLUSIONS: The greatest percentage of costs associated to epilepsy is due to the work productivity loss by the patients. The costs of psychological and social suffering in epilepsy lead to a deterioration in the quality of life.

Progression of a series of patients with relapsing-remitting multiple sclerosis treated for 7 years with natalizumab using the "no evidence of disease activity" parameter.

INTRODUCTION: The safety and effectiveness of natalizumab in patients with relapsing-remitting multiple sclerosis (RRMS) has been demonstrated in clinical trials. However, due to the limitations of these trials, it is important to know how the condition behaves under long-term clinical practice conditions. OBJECTIVE: To determine the long-term effectiveness of natalizumab in patients with RRMS by means of annual evaluation of the "no evidence of disease activity" (NEDA) parameter, which includes number of relapses, disability (measured with the Expanded Disability Status Scale), and brain MRI parameters. PATIENTS AND METHODS: We performed a retrospective study of patients with RRMS from 3 centres who were treated with one or more doses of natalizumab. Each year, we evaluated NEDA status and safety based on the percentage of patients who discontinued treatment with natalizumab and experienced adverse reactions. RESULTS: The study included 89 patients, most of whom received treatment for 2 to 4 years, with a follow-up period of up to 7 years. Natalizumab significantly reduces the radiological and clinical progression of the disease, as well as the annual rate of relapses. The NEDA parameter demonstrates the effectiveness of the drug, with values of 75.28% for year one and 66.67% for year 7. Twenty-five patients (28.1%) dropped out after a median of 4 years. Fourteen of these patients (56%) dropped out due to the appearance of anti-JC virus antibodies, either in isolation or associated with another cause. Four dropouts (16%) were due to treatment ineffectiveness, with one patient dying due to progressive multifocal leukoencephalopathy. CONCLUSIONS: Natalizumab is highly effective as measured by the NEDA long-term remission parameter.

Valoración del ASPECTS automatizado como herramienta de inteligencia artificial en la práctica clínica diaria / Valuation of automatized ASPECTS as an artificial intelligence tool in daily clinical

Objetivos: Evaluar un software del Alberta Stroke Program Early CT Score (ASPECTS) automatizado (ASPECTS-a) frente a la lectura de dos radiólogos en las tomografías computarizadas (TC) solicitadas desde el servicio de urgencias. Describir los fallos más frecuentes del ASPECTS-a. Material y métodos. Se recogieron las TC cerebrales solicitadas por el servicio de urgencias en el período de un mes. Se registraron los siguientes datos: edad, sexo, motivo de solicitud del estudio y hallazgos en la prueba de imagen. Se utilizó un programa que proporciona una puntuación del ASPECTS automáticamente. Posteriormente, dos radiólogos examinaron de forma independiente todos los estudios y realizaron un ASPECTS visual (ASPECTS-v). En caso de discrepancia, se hizo una nueva lectura en consenso. Se compararon los resultados del ASPECTS-a con el ASPECTS-v. Resultados: Se realizaron un total de 295 TC cerebrales urgentes con una edad media de 65 ± 20 años. El 91,8% lo interpretaron los dos lectores como ASPECTS 10 en ambos hemisferios cerebrales. El ASPECTS-a puntuó el 45% con ASPECTS 10 en ambos hemisferios cerebrales. En 152 (51,5%), el ASPECTS-a y el ASPECTS-v no coincidieron. Las causas de la discrepancia fueron fundamentalmente por errores en la segmentación (generalmente por atrofias asimétricas). La mayor parte de los errores en la segmentación se localizaban en la cabeza del núcleo caudado, lo que se observó en 60 estudios. Conclusiones: El ASPECTS-a es una herramienta potente y de gran ayuda, pero siempre es necesaria una supervisión humana, particularmente en grupos de pacientes con cambios cerebrales preexistentes.(AU)

Aims: To evaluate an automated ASPECTS (ASPECTS-a) software against two radiologists’ reading of CT scans requested from the Emergency Department. Describe the most frequent failures of the ASPECTS-a. Material and methods: All the cranial CT Scans requested by the Emergency Department in one month were collected. The following data were recorded: age, sex, the reason for requesting the study, and imaging findings. A program was used that provides an ASPECTS score automatically. Subsequently, 2 radiologists independently reviewed all of the studies and provided the visual ASPECTS (ASPECTS-v). In case of discrepancy, a new reading was made by consensus. Results: A total of 295 brain CT scans (45.1% male) with a mean age of 65 ± 20.0 years were included. 91.8% were interpreted as ASPECTS-v 10 in both cerebral hemispheres by both readers. ASPECTS-a scored 45% with ASPECTS 10 in both cerebral hemispheres. In 152 (51.5%) the ASPECTS-a and the ASPECTS-v did not coincide. The causes of the discrepancy were mainly due to segmentation errors (usually due to asymmetric atrophies). Most of the segmentation errors were located in the head of the caudate nucleus, observed in 60 studies. Conclusions: ASPECTS-a is a powerful and helpful tool, but human supervision is always necessary, particularly in groups of patients with pre-existing brain changes.(AU)

[Leber's optic neuropathy: a case report]. / Neuropatía óptica de Leber: caso clínico.

INTRODUCTION: Leber's optic neuropathy is a hereditary disease that mainly affects young males and is produced by specific mutations of the mitochondrial DNA, which affect the complex I of the mitochondrial respiratory chain. CASE REPORT: An 18-year-old male who presented with a 3-week history of progressive loss of sight in the right eye. Magnetic resonance imaging of the brain revealed numerous hyperintense lesions in the periventricular and subcortical white matter, and the visual evoked potentials showed bilateral optic neuropathy that was mild on the left side and severe on the right side. A spinal tap was performed and oligoclonal bands were detected in the cerebrospinal fluid. In the weeks that followed vision continued to get worse on both sides and the patient had hyalinised vessels in the papilla, with lower amplitude responses bilaterally in the electroretinogram. A genetic study was conducted that revealed a primary mutation 11778 in gene MTND4 and secondary mutation 15257 in gene MTCYB, which were compatible with a diagnosis of Leber's optic neuropathy. CONCLUSIONS: The absence of inflammation of the optic disc, which could lead to the suspicion of a retrobulbar neuritis, must act as a warning to the physician that he or she is possibly before a case of Leber's optic neuropathy, especially when the loss of vision is still progressing, when there is early bilateral involvement or if there is a family history of optic neuritis or multiple sclerosis.

[Fingolimod: effectiveness and safety in routine clinical practice. An observational, retrospective, multi-centre study in Galicia]. / Fingolimod: efectividad y seguridad en la practica clinica habitual. Estudio observacional, retrospectivo y multicentrico en Galicia.

INTRODUCTION: The effectiveness and safety of fingolimod in patients with relapsing-remitting multiple sclerosis (RRMS) have been proven in clinical trials. Yet, due to their limitations, it is important to know how it behaves under everyday clinical practice conditions. Hence, the aim of this study is to evaluate the effectiveness and safety of fingolimod after 12 months' usage in clinical practice in Galicia. PATIENTS AND METHODS: We conducted a retrospective, multi-centre study (n = 8) of patients with RRMS who were treated with one or more doses of fingolimod, 0.5 mg/day. Effectiveness was assessed -annualised relapse rate (ARR), changes in the score on the Expanded Disability Status Scale (EDSS), percentage of patients free from relapses, free from progression of disability and free from activity in resonance- for the total number of patients and according to previous treatment. Safety was assessed based on the percentage of patients who withdrew and presented adverse side effects. RESULTS: After 12 months' use, fingolimod reduced the ARR by 87% (1.7 to 0.23; p < 0.0001) and, consequently, 81% of patients were free from relapses. The score was reduced by 9%. In all, 91% of patients were free from progression of disability and 72% were free from resonance activity. No signs of disease activity were found in 43% of the patients. Most of the benefits of fingolimod differed depending on previous treatment. About a third of the patients reported adverse side effects, but only 2% of them withdrew for this reason. CONCLUSIONS: In clinical practice, most of the results on the effectiveness of the clinical trials conducted with fingolimod were observed during the first 12 months of treatment. A better safety profile was observed than that reported in the clinical trials.

TITLE: Fingolimod: efectividad y seguridad en la practica clinica habitual. Estudio observacional, retrospectivo y multicentrico en Galicia.Introduccion. La efectividad y seguridad del fingolimod en pacientes con esclerosis multiple remitente recurrente (EMRR) se demostro en ensayos clinicos. Sin embargo, por las limitaciones de estos, es importante saber como se comporta en condiciones de practica clinica habitual. Asi, el objetivo de este estudio es evaluar la efectividad y seguridad del fingolimod despues de 12 meses de uso en la practica clinica en Galicia. Pacientes y metodos. Estudio retrospectivo y multicentrico (n = 8) de pacientes con EMRR y tratados con una o mas dosis de fingolimod, 0,5 mg/dia. Se evaluo la efectividad ­tasa anualizada de brotes (TAB), cambio en la puntuacion de la escala expandida del estado de discapacidad (EDSS), porcentaje de pacientes libres de brotes, libres de progresion de discapacidad y libres de actividad en resonancia­ para el total de pacientes y segun tratamiento previo. Se evaluo la seguridad a partir del porcentaje de pacientes que discontinuaron y que presentaron efectos adversos. Resultados. Despues de 12 meses de uso, el fingolimod redujo un 87% la TAB (de 1,7 a 0,23; p < 0,0001) y, en consecuencia, un 81% de pacientes estuvo libre de brotes. La puntuacion de la EDSS disminuyo un 9%. Un 91% de pacientes estuvo libre de progresion de discapacidad y un 72%, libre de actividad en resonancia. En el 43% de los pacientes no se evidenciaron signos de la actividad de la enfermedad. La mayoria de los beneficios del fingolimod difirieron segun el tratamiento previo. Alrededor de un tercio de los pacientes comunicaron efectos adversos, pero solo el 2% discontinuo debido a ellos. Conclusiones. La mayoria de los resultados de efectividad de los ensayos clinicos del fingolimod se observa durante los 12 primeros meses de tratamiento en la practica clinica. Se observo un mejor perfil de seguridad al comunicado en los ensayos clinicos.

Evolución de una serie de pacientes con esclerosis múltiple remitente-recurrente tratados con natalizumab durante 7 años mediante el parámetro no evidencia enfermedad activa / Progression of a series of patients with relapsing-remitting multiple sclerosis treated for 7 years with natalizumab using the “no evidence of disease activity” parameter

Introducción: La efectividad y seguridad de natalizumab en pacientes con esclerosis múltiple remitente recurrente (EMRR) se demostró en ensayos clínicos. Sin embargo, por las limitaciones de estos es importante saber cómo se comporta en condiciones de práctica clínica a largo plazo.ObjetivoConocer la eficacia a largo plazo de natalizumab en pacientes con EMRR mediante la evaluación anual del no evidence of disease activity (NEDA), que incluye número de brotes, discapacidad medida con EDSS y parámetros de RM cerebral.Pacientes y métodosEstudio retrospectivo y multicéntrico (n = 3) de pacientes con EMRR tratados con una o más dosis de natalizumab. Se evaluó el estado NEDA cada año y la seguridad a partir del porcentaje de pacientes que discontinuaron y que presentaron efectos adversos.ResultadosIncluimos 89 pacientes, la mayoría recibieron tratamiento durante 2 a 4 años, con una duración del seguimiento de hasta 7 años. Natalizumab reduce significativamente la progresión radiológica y clínica de la enfermedad, así como la tasa anual de brotes, demostrándose su eficacia con el parámetro NEDA, 75,28% al primer año y 66,67% al séptimo año. Veinticinco pacientes (28,1%) han abandonado el estudio en una mediana de tiempo de 4 años, 14 pacientes (56%) por aparición de anticuerpos contra el virus JC, como causa única o asociada a otro motivo, 4 abandonos (16%) fueron por ineficacia, un paciente falleció a causa de LMP.ConclusionesNatalizumab presenta una alta eficacia medida mediante el parámetro de remisión NEDA a largo plazo. (AU)

Introduction: The safety and effectiveness of natalizumab in patients with relapsing-remitting multiple sclerosis (RRMS) has been demonstrated in clinical trials. However, due to the limitations of these trials, it is important to know how the condition behaves under long-term clinical practice conditions.ObjectiveTo determine the long-term effectiveness of natalizumab in patients with RRMS by means of annual evaluation of the “no evidence of disease activity” (NEDA) parameter, which includes number of relapses, disability (measured with the Expanded Disability Status Scale), and brain MRI parameters.Patients and methodsWe performed a retrospective study of patients with RRMS from 3 centres who were treated with one or more doses of natalizumab. Each year, we evaluated NEDA status and safety based on the percentage of patients who discontinued treatment with natalizumab and experienced adverse reactions.ResultsThe study included 89 patients, most of whom received treatment for 2 to 4 years, with a follow-up period of up to 7 years. Natalizumab significantly reduces the radiological and clinical progression of the disease, as well as the annual rate of relapses. The NEDA parameter demonstrates the effectiveness of the drug, with values of 75.28% for year one and 66.67% for year 7. Twenty-five patients (28.1%) dropped out after a median of 4 years. Fourteen of these patients (56%) dropped out due to the appearance of anti–JC virus antibodies, either in isolation or associated with another cause. Four dropouts (16%) were due to treatment ineffectiveness, with one patient dying due to progressive multifocal leukoencephalopathy.ConclusionsNatalizumab is highly effective as measured by the NEDA long-term remission parameter. (AU)

[Does brain blood flow HMPAO SPECT withhold the vascular etiopathogenic theory of transient global amnesia?]. / Apoya el SPECT de perfusión cerebral la teoría etiopatogénica vascular de la amnesia global transitoria?

INTRODUCTION: Transient global amnesia (TGA) is a neurological disorder that consists in a sudden loss of anterograd memory and temporospatial disorientation during less than 24 hours. Several precipitating factors have been reported. Conventional neuroimaging scans usually are negative. Different etiopathogenic theories have been postulated but the vascular etiology is the most commonly accepted. CASE REPORTS: Three patients with a typical presentation of TGA are studied. In all of them two brain blood flow HMPAO SPECT were performed, within the first 48 hours from the onset and three months after as an evolutive control. The first patient showed a left temporal perfusion defect and temporoparietal hypoperfusion. The second showed frontotemporal hypoperfusion, temporal mesial defect and hypoperfusion in basal ganglia, all in the left side. The third patient showed thalamic hyperperfusion and cerebellum hypoperfusion, both in the left. In all of them, control SPECT normalized. CONCLUSION: Three etiopatogenic theories about TGA have been reported: epilepsy, migraine and blood flow impairment. In TGA neuroanatomic image and neurophysiologic studies usually do not show significative alterations. Conversely, functional studies as brain blood flow HMPAO SPECT, do show changes being the most common bilateral temporobasal hypoperfusion, although this is not the only pattern described. Causes of this variable behaviour remain unclear but can be related to different clinic expressions and, over all, to time of evolution from onset. The three cases in this study show three different perfusion patterns reported in TGA and all of them withhold the vascular etiopathogenic theory.

[The economic impact of epilepsy]. / Impacto económico de la epilepsia.

AIMS: In this study we review the economic impact involved in suffering from this disease in an attempt to determine how it affects both the individual and society, and the potential benefits deriving from its prevention and treatment. DEVELOPMENT: The World Health Organisation and the World Bank have pointed out that 90% of the costs generated by epilepsy are produced in developing countries. Yet in most developed countries the economic impact of the disease remains partially hidden for patients by the existence of publicly funded health service. As regards spending on pharmaceutical products in Spain, the subgroup made up of the antiepileptic drugs accounted for 1.36% of the total spending throughout the year 2001. Nevertheless, the main economic consequence for most patients is the limitation they suffer in their occupational activities, which is inversely proportional to the degree of control over their seizures and considerably higher than in the general population. Moreover, in epilepsy we must not forget the costs linked to its numerous psychological and social consequences. CONCLUSIONS: As happens in other areas of health care, the way epilepsy is attended depends to a large extent on economic factors. Further studies are therefore needed to provide us with a better understanding of the role played by economics in the field of health care.

[Cerebellar glioblastoma multiforme: a case report]. / Glioblastoma multiforme de cerebelo: caso clínico.

INTRODUCTION: Cerebellar glioblastoma multiforme (CGM) accounts for less than 1% of all intracranial glioblastomas; it spreads quickly locally, above all towards the brain stem and adjacent leptomeninges, and has a poor prognosis. CASE REPORT: We report the case of a 55 year old patient who presented a continuous feeling of dizziness, instability and sickness, with occasionally vomiting and double vision that had started two months before being admitted to hospital. A physical exploration revealed hypaesthesia of the right side of the face, tactile and algesic hypaesthesia in the left side of the body and nystagmus in the bilateral horizontal gaze. Results of the general physical exploration were normal. A magnetic resonance (MR) brain scan revealed a 3 cm expansive lesion in the middle cerebellar peduncle and right cerebellar hemisphere, which was hypointense in T1 and hyperintense in T2. Administering contrast showed it to be heterogeneous, with irregular annular enhancement, and perilesional edema. Subtotal excision of the lesion was performed and pathological analysis allowed a diagnosis of glioblastoma multiforme to be made; radio and chemotherapy were continued. CONCLUSION: CGM is infrequent and 46.7 years is the mean age of onset. 59% of tumours are located in the hemispheres, they tend to spread locally, and remote metastases have also been reported. Initial clinical manifestations are intracranial hypertension, and gait and balance disorders. Differential diagnosis is provided by MR and includes metastasis, infarction and abscesses. Treatment involves radical surgical excision followed by local radiotherapy. The use of chemotherapy has been reported but its role in the treatment of this entity is still not altogether clear.

[Experience in the treatment of multiple sclerosis with interferon beta in Galicia]. / Experiencia del tratamiento con interferón beta en la esclerosis múltiple en Galicia.

OBJECTIVE: To analyze the experience in daily clinical practice of interferon-beta (IFN-beta) treatment in relapsing-remitting (RR) and secondary progressive (SP) multiple sclerosis (MS) in Galicia (Spain). PATIENTS AND METHODS: Patients with RR-MS and SP-MS treated with IFN-beta1a and 1b between 1995 and December/2000, analyzing demographic and clinical data. RESULTS: 313 patients were included, with a mean age of 38.2 years. A total of 296 patients (94.6%) were clinically defined MS and 17 (5.4%) were laboratory supported (Poser criteria); 84.6% of the patients were RR and 15.4% were SP. The mean duration of the disease prior to treatment was 7.06 years. Betaferon was used in 52.4% patients (115 RR-MS and 47 SP-MS), Avonex in 26% and Rebif in 21.6%. Relapse rate was reduced in 68.8% for the RR-MS for Betaferon-treated patients, 73.3% for Avonex treated and 35.7% for Rebif-treated patients. Betaferon reduced relapse rate in 50% for SP-MS. The global EDSS remained stable during IFN-beta treatment. During treatment, 33% of Betaferon, 60.5% of Avonex and 54.5% of Rebif-treated patients remained relapse-free. Treatment was suspended in 12.9% of Betaferon, 6.2% of Avonex, and 3% Rebif-treated patients. The most frequent causes of treatment suspension were increase in disability and in relapse count. CONCLUSIONS: The present study supports the benefits of IFN-beta treatment in RR MS and SP MS in daily clinical practice, with reduction in relapses count and incapacity, good over-all tolerance and low incidence of serious adverse side-effects.

Ataxia y nistagmo de origen infrecuente / Ataxia and nystagmus of unusual origin

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Análisis de costes directos, indirectos e intangibles de la epilepsia / Analysis of direct, indirect, and intangible costs of epilepsy

Introducción: Se ha realizado una estimación económica de los costes de epilepsia en adultos.Métodos: Estudio observacional prospectivo realizado durante 6 meses, en pacientes epilépticos mayores de 14 años. Se excluyeron los pacientes con enfermedades concomitantes que pudieran influir en la evolución de la epilepsia. Los costes directos incluyeron: tratamiento administrado, número de consultas en Neurología, Atención Primaria, y Urgencias, número de días de ingreso hospitalario, número y tipo de pruebas diagnósticas, uso de los medios de transporte al hospital y desde el hospital, y los apoyos psicopedagógicos y sociales por epilepsia. Los costes indirectos se analizaron en función de la pérdida de productividad laboral de los pacientes, con consideración de los familiares cuando los pacientes necesitaban supervisión a causa de la epilepsia. Los costes totales se derivaron de la suma de los costes directos e indirectos. Los costes intangibles se evaluaron según el cuestionario QOLIE-10. Resultados:La media de los costes directos por paciente fue de 1.055,2 €. El gasto económico medio en los costes indirectos ascendió a 1.528,8 € por paciente. El total de los costes asociados a la epilepsia supuso una media de 2.584 € por cada paciente, derivados sobre todo de la pérdida de productividad laboral (p<0,05). En los costes intangibles, según la escala QOLIE-10, la media obtenida fue de 77,8. Conclusiones: El mayor porcentaje de los costes asociados a la epilepsia corresponde a la pérdida de productividad laboral de los pacientes. Los costes del sufrimiento psicológico y social en epilepsia provocan deterioro de la calidad de vida (AU)

Introduction: A financial estimate has been made of the costs of epilepsy in adults. Methods: A prospective, observational study, over a period of 6 months, on epileptic patients over 14 years-old. Patients with concomitant diseases that could influence the outcome of the epilepsy were excluded. The direct costs included: treatment received, number of visits to neurology, primary care, and emergencies, number of days admitted to hospital, number and type of diagnostic tests, use of transport to and from hospital, and psychopedagogic and social support due to the epilepsy. The indirect costs were analysed according to, loss of work productivity of the patients, taking into account families where the patient needed supervision due to epilepsy. The total costs were derived from the sum of the direct and indirect costs. The intangible costs were calculated according to QOLIE-10 questionnaire.Results: The mean direct cost per patient was 1,055.2 €. The mean indirect financial costs came to 1,528.8 € per patient. The total cost associated to epilepsy was a mean of 2,584 € for each patient, mainly arising from loss of work days (p<.05). For intangible costs according to the QOLIE-10 scale a mean of 77.8 was obtained.Conclusions: The greatest percentage of costs associated to epilepsy is due to the work productivity loss by the patients. The costs of psychological and social suffering in epilepsy lead to a deterioration in the quality of life (AU)

Respuesta a: Leucoencefalopatía con sustancia blanca evanescente de inicio en edad adulta / Hospital Povisa

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Neuropatía óptica de Leber: caso clínico / Leber’s optic neuropathy: a case report

Introducción. La neuropatía óptica de Leber es una enfermedad hereditaria que afecta sobre todo a varones jóvenes y se produce por mutaciones puntuales del ADN mitocondrial, que afectan al complejo I de la cadena respiratoria mitocondrial. Caso clínico. Varón de 18 años de edad, que presenta pérdida progresiva de la visión por el ojo derecho de 3 semanas de evolución. La resonancia magnética cerebral evidencia múltiples lesiones hiperintensas en la sustancia blanca periventricular y subcortical, y los potenciales evocados visuales manifiestan neuropatía óptica bilateral leve en lado izquierdo y grave en el lado derecho. Se realiza punción lumbar y se detectan bandas oligoclonales en el líquido cefalorraquídeo. En las semanas siguientes continúa el empeoramiento de la visión bilateral, muestra vasos hialinizados en la papila, con respuestas de amplitud disminuida en el electrorretinograma bilateralmente. Se realiza estudio genético y se detecta la mutación primaria11778 en el gen MTND4, y la mutación secundaria 15257en el gen MTCYB, compatibles con el diagnóstico de neuropatíaóptica de Leber. Conclusiones. La ausencia de inflamación del discoóptico, que podría conducir a la sospecha de una neuritis retrobulbar, debe alertar al clínico acerca de la posibilidad de que se trate de una neuropatía óptica de Leber, sobre todo cuando la pérdida de la visión progresa todavía, cuando existe afectación bilateral precoz, o si existen antecedentes familiares de neuritis óptica oesclerosis múltiple (AU)

Introduction. Leber's optic neuropathy is a hereditary disease that mainly affects young males and is produced by specific mutations of the mitochondrial DNA, which affect the complex I of the mitochondrial respiratory chain. Case report. An 18-year-old male who presented with a 3-week history of progressive loss of sight in the right eye. Magnetic resonance imaging of the brain revealed numerous hyperintense lesions in the periventricular and subcortical white matter, and the visual evoked potentials showed bilateral optic neuropathy that was mild on the left side and severe on the right side. A spinal tap was performed and oligoclonal bands were detected in the cerebrospinal fluid. In the weeks that followed vision continued to get worse on both sides and the patient had hyalinised vessels in the papilla, with lower amplitude responses bilaterally in the electroretinogram. A genetic study was conducted that revealed a primary mutation 11778 in gene MTND4and secondary mutation 15257 in gene MTCYB, which were compatible with a diagnosis of Leber's optic neuropathy. Conclusions. The absence of inflammation of the optic disc, which could lead to the suspicion of a retrobulbar neuritis, must act as a warning to the physician that he or she is possibly before a case of Leber's optic neuropathy, especially when the loss of vision is still progressing, when there is early bilateral involvement or if there is a family history of optic neuritis or multiple sclerosis (AU)