Trastornos del movimiento y de la conducta durante el sueño en el adulto / Sleep-related movement and behavioural disorders in adults

Los trastornos del movimiento y de la conducta durante el sueño pueden tener un impacto en la calidad del sueño del paciente y dar lugar a síntomas diurnos. En estos grupos de enfermedades se incluyen entidades como el síndrome de piernas inquietas, los movimientos periódicos de las piernas y las parasomnias del sueño de movimientos oculares rápidos (REM) y no REM. El conocimiento de sus características clínicas y nociones sobre su manejo es de gran importancia para el neurólogo y especialista en sueño por su frecuencia e impacto en la calidad del sujeto. Con frecuencia, estos pacientes son referidos a dichos especialistas, y es relevante conocer que ciertos trastornos del sueño pueden asociarse a otras enfermedades neurológicas

Sleep-related movement and behaviour disorders may have an impact on sleep quality and lead to daytime symptoms. These groups of conditions include diseases such as restless legs syndrome, periodic leg movements, and REM and NREM parasomnias. The knowledge of their clinical features and management is of utmost importance for the neurologist and sleep specialist. Frequently, these patients are referred to such specialists and it is relevant to know that certain sleep disorders may be associated with other neurological conditions

Síndrome de Brown-Séquard progresivo secundario a hernia medular idiopática: correlación clinicorradiológica y quirúrgica / Progressive Brown-Séquard syndrome secondary to idiopathic spinal cord herniation: clinico-radiological and surgical correlations

INTRODUCCIÓN: La hernia medular idiopática es una patología infrecuente que cursa clínicamente con una mielopatía progresiva, la mayoría de las ocasiones en forma de síndrome de Brown-Séquard. Su base anatómica es un defecto dural por el que se incarcera progresivamente una porción del cordón medular anterior. La resonancia magnética y la mielotomografía demuestran un acodamiento medular en «tienda de campaña» hacia la cara anterior del estuche dural, a nivel dorsal medio fundamentalmente. Caso clínico. Varón de 37 años, diagnosticado de hernia medular idiopática e intervenido quirúrgicamente mediante una técnica propia; se demuestra su correlación neurorradiológica, anatomoquirúrgica y evolutiva. CONCLUSIÓN: El tratamiento debe ser individualizado, pues no existe una técnica quirúrgica universalmente establecida

INTRODUCTION: Idiopathic medullary herniation is an infrequent disease, which shows up in clinical form as a progressive mielopathy, most commonly known as the Brown-Séquard syndrome. Its anatomical base is a dural defect where a portion of anterior spinal cord gets progressively incarcerated. The MRI and myelo-CT scan show a bending of the spinal cord in the form of a «bell tent» towards the anterior dural sheath at the mid-dorsal portion mainly. CASE REPORT: A 37 year old male, who was diagnosed of idiopathic medullary herniation and surgically treated by our own developed technique, reporting its neuroradiological, anatomo-surgical and clinical correlation. CONCLUSION. Treatment should be individualized, as no standard surgical technique has been established up to the present

A comprehensive serum lipidome profiling of amyotrophic lateral sclerosis.

Objective: To perform a comprehensive lipid profiling to evaluate potential lipid metabolic differences between patients with amyotrophic lateral sclerosis (ALS) and controls, and to provide a more profound understanding of the metabolic abnormalities in ALS. Methods: Twenty patients with ALS and 20 healthy controls were enrolled in a cross-sectional study. Untargeted lipidomics profiling in fasting serum samples were performed by optimized UPLC-MS platforms for broad lipidome coverage. Datasets were analyzed by univariate and a variety of multivariate procedures. Results: We provide the most comprehensive blood lipid profiling of ALS to date, with a total of 416 lipids measured. Univariate analysis showed that 28 individual lipid features and two lipid classes, triacylglycerides and oxidized fatty acids (FAs), were altered in patients with ALS, although none of these changes remained significant after multiple comparison adjustment. Most of these changes remained constant after removing from the analysis individuals treated with lipid-lowering drugs. The non-supervised principal component analysis did not identify any lipid clustering of patients with ALS and controls. Despite this, we performed a variety of linear and non-linear supervised multivariate models to select the most reliable features that discriminate the lipid profile of patients with ALS from controls. These were the monounsaturated FAs C24:1n-9 and C14:1, the triglyceride TG(51:4) and the sphingomyelin SM(36:2). Conclusions: Peripheral alterations of lipid metabolism are poorly defined in ALS, triacylglycerides and certain types of FAs could contribute to the different lipid profile of patients with ALS. These findings should be validated in an independent cohort.

Perampanel como terapia añadida precoz en el tratamiento de la epilepsia / Perampanel as an early added therapy in the treatment of epilepsy

No disponible

Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert / Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease

Antecedentes y objetivos: La enfermedad de Steinert o distrofia miotónica tipo 1 (DM1), (OMIM 160900) es la miopatía más prevalente en el adulto. Es una enfermedad multisistémica con alteración de prácticamente todos los órganos y tejidos y una variabilidad fenotípica muy amplia, lo que implica que deba ser atendida por diferentes especialistas que dominen las alteraciones más importantes. En los últimos años se ha avanzado de manera exponencial en el conocimiento de la enfermedad y en su manejo. El objetivo de la guía es establecer recomendaciones para el diagnóstico, el pronóstico, el seguimiento y el tratamiento de las diferentes alteraciones de la DM1. Material y métodos: Esta guía de consenso se ha realizado de manera multidisciplinar. Se ha contado con neurólogos, neumólogos, cardiólogos, endocrinólogos, neuropediatras y genetistas que han realizado una revisión sistemática de la literatura. Recomendaciones: Se recomienda realizar un diagnóstico genético con cuantificación precisa de tripletes CTG. Los pacientes con DM1 deben seguir control cardiológico y neumológico de por vida. Antes de cualquier cirugía con anestesia general debe realizarse una evaluación respiratoria. Debe monitorizarse la presencia de síntomas de disfagia periódicamente. Debe ofrecerse consejo genético a los pacientes con DM1 y a sus familiares. Conclusión: La DM1 es una enfermedad multisistémica que requiere un seguimiento en unidades especializadas multidisciplinares

Background and objectives: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. Material and methods: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. Recommendations: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. Conclusion: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. / Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert.

BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.

Propuesta de modelo para sustituir carbamacepina u oxcarbacepina por acetato de eslicarbacepina en la práctica clínica / A proposal for a model to replace carbamazepine or oxcarbazepine by eslicarbazepine acetate in clinical practice

Introducción. Durante muchos años, la carbamacepina (CBZ) ha sido el fármaco de referencia para el tratamiento de las crisis epilépticas parciales. Sin embargo, los problemas asociados de su farmacocinética y tolerabilidad han llevado al desarrollo de otros derivados, como la oxcarbacepina (OXC) y, más recientemente, el acetato de eslicarbacepina (ESL), que obvien estos inconvenientes. Desarrollo. En la práctica clínica, se presenta con relativa frecuencia la posibilidad de sustituir la CBZ o la OXC por ESL, buscando mantener la eficacia de los predecesores y ganar las ventajas en el ámbito de farmacocinética y tolerabilidad que ofrece este último derivado. Para ello es indispensable disponer de una equivalencia aproximada de dosis y un protocolo de intercambio. La presente revisión ofrece un modelo práctico y razonado para realizar el cambio. Conclusiones. El paso de OXC a ESL se puede realizar de un día para otro con una equivalencia de dosis de 1-1,5 a 1. La sustitución de CBZ por ESL debe ser más progresiva, y la equivalencia de dosis se establece en 1-1,3 a 1 (AU)

Introduction. For many years carbamazepine (CBZ) has been the reference drug for the treatment of partial epileptic seizures. However, the problems related with its pharmacokinetics and safety have led to the development of other derivatives, such as oxcarbazepine (OXC) and, more recently, eslicarbazepine acetate (ESL), which do not display these drawbacks. Development. In clinical practice, the possibility of replacing CBZ or OCX by ESL is a relatively frequent occurrence, the aim being to maintain the efficacy of its predecessors and benefit from the advantages in terms of the pharmacokinetics and safety of this latter derivative. To achieve this, it is essential to have an approximate dose equivalence and exchange protocol. This review offers a practical reasoned model for carrying out the change. Conclusions. The shift from OXC to ESL can be completed from one day to the next with a dose equivalence of 1-1.5 to 1. Replacement of CBZ by ESL must be more progressive, and the dose equivalence is established as 1-1.3 to 1 (AU)

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 (DNM2), a mechanochemical enzyme regulating cytoskeleton and membrane trafficking in cells. To date, 40 families with CNM-related DNM2 mutations have been described, and here we report 60 additional families encompassing a broad genotypic and phenotypic spectrum. In total, 18 different mutations are reported in 100 families and our cohort harbors nine known and four new mutations, including the first splice-site mutation. Genotype-phenotype correlation hypotheses are drawn from the published and new data, and allow an efficient screening strategy for molecular diagnosis. In addition to CNM, dissimilar DNM2 mutations are associated with Charcot-Marie-Tooth (CMT) peripheral neuropathy (CMTD1B and CMT2M), suggesting a tissue-specific impact of the mutations. In this study, we discuss the possible clinical overlap of CNM and CMT, and the biological significance of the respective mutations based on the known functions of dynamin 2 and its protein structure. Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT.

[Gait analysis in Parkinson's disease and response to dopaminergic treatment]. / Análisis de la marcha en la enfermedad de Parkinson y su respuesta al tratamiento dopaminérgico.

BACKGROUND AND OBJECTIVE: The objective of this study was to analyze the gait abnormalities in patients with idiopathic Parkinson's disease (PD), and their response to dopaminergic treatment. PATIENTS AND METHOD: 15 patients and 15 healthy age-matched subjects were included for comparison between pathologic and "normal" gait, and 24 PD patients were included to assess the effects of treatment. Gait analysis was achieved with a new 3D-photogrammetry system. RESULTS: Patients had significative lower velocity, stride length, step length and hip and knee ranges when compared with control subjects. There were no differences in cadence, step width and relative times of gait-cycle. There were no differences in the patients' gait variables after administration of a dopaminergic medication. CONCLUSIONS: Gait analysis allows quantification of gait disturbances in patients with PD and the potential effects of treatment. The results of this study suggest a certain degree of "levodopa-resistance" in gait in these patients.

Análisis de la marcha en la enfermedad de Parkinson y su respuesta al tratamiento dopaminérgico / Gait analysis in Parkinson’s disease and response to dopaminergic treatment

FUNDAMENTO Y OBJETIVO: Analizar objetivamente las alteraciones de la marcha en pacientes con enfermedad de Parkinson (EP)y los cambios observados tras la administración de medicación dopaminérgica. PACIENTES Y MÉTODO: Se incluyó a 15 pacientes con enfermedad de Parkinson para la comparación de la marcha con un grupo de 15 individuos sanos de la misma edad y a24 pacientes para la comparación antes y después de la administración de la medicación. Se realizó el análisis con un nuevosistema de fotogrametría tridimensional. RESULTADOS: Los pacientes presentaron de forma significativa una menor velocidad, longitud de zancada, de paso y menores amplitudes articulares de cadera y rodillaque el grupo control, sin diferencias en la cadencia, base de sustentación ni en los tiempos relativos del ciclo de la marcha. No se encontraron diferencias significativasen la comparación de la marcha antes y después de la administración de la medicación dopaminérgica. CONCLUSIONES: El análisis de la marcha permite cuantificar las alteraciones de la marcha en pacientes con enfermedad de Parkinson y el potencial efecto de intervenciones terapéuticas. Los resultados indican un cierto grado de resistencia a la levodopa en la marcha de estos pacientes

BACKGROUND AND OBJECTIVE: The objective of this study was to analyze the gait abnormalities in patients with idiopathic Parkinson’s disease(PD), and their response to dopaminergic treatment. PATIENTS AND METHOD: 15 patients and 15 healthyage-matched subjects were included for comparison between pathologic and «normal» gait, and 24 PD patients were included to assess the effects of treatment. Gait analysis was achieved with a new 3D-photogramme try system. RESULTS: Patients had significative lower velocity, stride length, step length and hip and knee ranges when compared with control subjects. There were no differences in cadence, step width and relative times of gait-cycle. There were no differences in the patients’ gait variables after administration of a dopaminergic medication. CONCLUSIONS: Gait analysis allows quantification of gait disturbances in patients with PD and the potential effects of treatment. The results of this study suggest a certain degree of«levodopa-resistance» in gait in these patients