Case Report: Probable Myocarditis After Covid-19 mRNA Vaccine in a Patient With Arrhythmogenic Left Ventricular Cardiomyopathy.

Arrhythmogenic left ventricular cardiomyopathy (ALVC) is a rare heritable heart-muscle disorder characterized by a progressive loss of left ventricular myocardium and its replacement by fibrofatty tissue. Myocarditis is an inflammatory disease of the heart that may occur secondary to infections, immune system activation or exposure to drugs. Hot phases of ALVC present with chest pain and troponin rise, mimicking acute viral myocarditis and indicate a progression of the disease. Recently, myocarditis has also been described as an infrequent complication of coronavirus disease 2019 (Covid-19) mRNA vaccines. We herein report for the first time a case of probable myocarditis induced by Covid-19 vaccine in a patient with previous medical history of ALVC. We aim to highlight the common characteristics of ALVC and Covid-19 vaccine myocarditis and work through the differential diagnosis of these two entities.

Novel EGR2 variant that associates with Charcot-Marie-Tooth disease when combined with lipopolysaccharide-induced TNF-α factor T49M polymorphism.

OBJECTIVE: To identify novel genetic mechanisms causing Charcot-Marie-Tooth (CMT) disease. METHODS: We performed a next-generation sequencing study of 34 genes associated with CMT in a patient with peripheral neuropathy. RESULTS: We found a non-previously described mutation in EGR2 (p.P397H). P397H mutation is located within the loop that connects zinc fingers 2 and 3, a pivotal domain for the activity of this transcription factor. Using promoter activity luciferase assays, we found that this mutation promotes decreased transcriptional activity of EGR2. In this patient, we also found a previously described nonpathogenic polymorphism in lipopolysaccharide-induced TNF-α factor (LITAF) (p.T49M). We show that the p.T49M mutation decreases the steady-state levels of the LITAF protein in Schwann cells. Loss of function of LITAF has been shown to produce deregulation in the NRG1-erbB signaling, a pivotal pathway for EGR2 expression by Schwann cells. Surprisingly, our segregation study demonstrates that p.P397H mutation in EGR2 is not sufficient to produce CMT disease. Most notably, only those patients expressing simultaneously the LITAF T49M polymorphism develop peripheral neuropathy. CONCLUSIONS: Our data support that the LITAF loss-of-function interferes with the expression of the transcriptional-deficient EGR2 P397H mutant hampering Schwann cell differentiation and suggest that in vivo both genes act in tandem to allow the proper development of myelin.

Efecto de la lacosamida sobre la calidad de vida del paciente con epilepsia / Effect of lacosamide on the quality of life of patients with epilepsy

Introducción. La epilepsia provoca trastornos psiquiátricos en un 20-40% de los pacientes y repercute de forma negativa en su calidad de vida. La lacosamida es un nuevo antiepiléptico que se utiliza como terapia añadida en crisis parciales con o sin generalización. Objetivo. Hemos realizado un estudio para valorar el impacto de la lacosamida en cuanto a la calidad de vida del paciente con epilepsia. Se han utilizado la escala hospitalaria de ansiedad y depresión (HADS) y la escala de calidad de vida en la epilepsia (QOLIE-10). Se ha valorado la eficacia y la tolerabilidad. Pacientes y métodos. Se recogen prospectivamente pacientes con epilepsia mal controlada y a los que se añade lacosamida. Se realiza una visita basal, a los tres y a los seis meses. Se cumplimentan los cuestionarios y se recaban los datos sobre la epilepsia. Resultados. Se incluyen 31 pacientes, con una edad media de 45,5 ± 17,2 años, un 64,5% varones. El número de crisis mensuales previas es de 1,6 ± 1,8. La HADS para ansiedad muestra una mejoría significativa a los tres y seis meses. La HADS para depresión refleja una mejoría significativa en los parámetros cualitativos. La QOLIE-10 muestra mejoría significativa para el grupo con baja calidad de vida previa a los tres y seis meses. Tras seis meses, el 61,3% de los pacientes presenta una reducción de las crisis igual o superior al 50%, y el 54,8% está libre de crisis. El mareo es el efecto secundario más frecuente (22,8%). El 74,2% continúa con el tratamiento. Conclusiones. La lacosamida podría mejorar la ansiedad, depresión y calidad de vida del paciente epiléptico con independencia del control de las crisis. La respuesta al tratamiento, la adhesión y los efectos secundarios son similares a estudios previos (AU)

Introduction. Epilepsy causes psychiatric disorders in 20-40% of patients impacting negatively on their quality of life. Lacosamide is a new antiepileptic as adjunctive therapy in partial seizures with or without generalization. Aim. We conducted a study to assess the impact of lacosamide as to the quality of life of epileptic patients. We used the HAD scale for anxiety and depression and QOLIE-10 scale for quality of life. We evaluated the efficacy and tolerability. Patients and methods. We collected prospectively poorly controlled epileptic patients are and added lacosamide treatment. Baseline visit, at 3 and 6 months were performed. The questionnaires are completed and the epilepsy information has been collected. Results. 31 patients, age 45.5 ± 17.2 years, 64.5% males are included. Number of previous monthly crisis 1.6 ± 1.8.HAD anxiety scale shows a significant improvement at 3 and 6 months. HAD scale for depression reflects a significant improvement in quality parameters. QOLIE-10 shows significant improvement for the group with low quality of life after 3 and 6 months. After 6 months 61.3% of patients have a seizure reduction equal or more than 50% and 54.8% are seizure free. Dizziness is the most common side effect (22.8%). 74.2% continued treatment. Conclusions. Lacosamide may improve anxiety, depression and quality of life of epileptic patients regardless of seizure control. Response to treatment, adherence and side effects are similar to previous studies (AU)

[Effect of lacosamide on the quality of life of patients with epilepsy]. / Efecto de la lacosamida sobre la calidad de vida del paciente con epilepsia.

INTRODUCTION: Epilepsy causes psychiatric disorders in 20-40% of patients impacting negatively on their quality of life. Lacosamide is a new antiepileptic as adjunctive therapy in partial seizures with or without generalization. AIM: We conducted a study to assess the impact of lacosamide as to the quality of life of epileptic patients. We used the HAD scale for anxiety and depression and QOLIE-10 scale for quality of life. We evaluated the efficacy and tolerability. PATIENTS AND METHODS: We collected prospectively poorly controlled epileptic patients are and added lacosamide treatment. Baseline visit, at 3 and 6 months were performed. The questionnaires are completed and the epilepsy information has been collected. RESULTS: 31 patients, age 45.5 ± 17.2 years, 64.5% males are included. Number of previous monthly crisis 1.6 ± 1.8. HAD anxiety scale shows a significant improvement at 3 and 6 months. HAD scale for depression reflects a significant improvement in quality parameters. QOLIE-10 shows significant improvement for the group with low quality of life after 3 and 6 months. After 6 months 61.3% of patients have a seizure reduction equal or more than 50% and 54.8% are seizure free. Dizziness is the most common side effect (22.8%). 74.2% continued treatment. CONCLUSIONS: Lacosamide may improve anxiety, depression and quality of life of epileptic patients regardless of seizure control. Response to treatment, adherence and side effects are similar to previous studies.

TITLE: Efecto de la lacosamida sobre la calidad de vida del paciente con epilepsia.Introduccion. La epilepsia provoca trastornos psiquiatricos en un 20-40% de los pacientes y repercute de forma negativa en su calidad de vida. La lacosamida es un nuevo antiepileptico que se utiliza como terapia añadida en crisis parciales con o sin generalizacion. Objetivo. Hemos realizado un estudio para valorar el impacto de la lacosamida en cuanto a la calidad de vida del paciente con epilepsia. Se han utilizado la escala hospitalaria de ansiedad y depresion (HADS) y la escala de calidad de vida en la epilepsia (QOLIE-10). Se ha valorado la eficacia y la tolerabilidad. Pacientes y metodos. Se recogen prospectivamente pacientes con epilepsia mal controlada y a los que se añade lacosamida. Se realiza una visita basal, a los tres y a los seis meses. Se cumplimentan los cuestionarios y se recaban los datos sobre la epilepsia. Resultados. Se incluyen 31 pacientes, con una edad media de 45,5 ± 17,2 años, un 64,5% varones. El numero de crisis mensuales previas es de 1,6 ± 1,8. La HADS para ansiedad muestra una mejoria significativa a los tres y seis meses. La HADS para depresion refleja una mejoria significativa en los parametros cualitativos. La QOLIE-10 muestra mejoria significativa para el grupo con baja calidad de vida previa a los tres y seis meses. Tras seis meses, el 61,3% de los pacientes presenta una reduccion de las crisis igual o superior al 50%, y el 54,8% esta libre de crisis. El mareo es el efecto secundario mas frecuente (22,8%). El 74,2% continua con el tratamiento. Conclusiones. La lacosamida podria mejorar la ansiedad, depresion y calidad de vida del paciente epileptico con independencia del control de las crisis. La respuesta al tratamiento, la adhesion y los efectos secundarios son similares a estudios previos.

Efecto de los ácidos grasos poliinsaturados omega-3 sobre la función cognitiva en pacientes con deterioro cognitivo leve / No disponible

Introducción: el deterioro cognitivo leve (DCL) afecta a entre el 3 y el 17 % de la población anciana, con tasas de conversión a demencia del 10 % al año. Distintos estudios publicados han mostrado el beneficio de los ácidos grasos poliinsaturados omega-3 (omega-3) en pacientes con DCL. Objetivo: evaluar el efecto de un complemento alimenticio a base de ácidos grasos omega-3 (ácido docosahexaenoico [DHA] y ácido eicosapentaenoico [EPA]) sobre el estado cognitivo y anímico en mayores de 60 años con DCL. Materiales y métodos: se seleccionaron 60 pacientes mayores de 60 años con DCL que fueron divididos aleatoriamente en dos grupos: grupo con complemento de omega-3 (grupo omega-3) y grupo control. Se efectuó una visita basal y otra a las 24 semanas. En cada visita se realizó: test de mini-mental (MMSE por sus siglas en inglés), test de Barcelona abreviado (TB-A) y escala de calidad de vida EQ-5D. Se analizaron las diferencias obtenidas entre las dos visitas y entre ambos grupos. Resultados: 46 (76,7 %) pacientes completaron el estudio: 25 del grupo omega-3 y 21 del grupo control. No encontramos diferencias entre ambos grupos en la puntuación del MMSE. Se halló mejoría significativa (p = 0,025) a favor del grupo omega-3 en el ítem «Memoria de textos diferida (preguntas)» del TB-A y mejoría significativa en el apartado ansiedad/depresión del EQ-5D a favor del grupo omega-3 (p = 0,005). El complemento de omega-3 fue bien tolerado. Conclusión: tras 24 semanas de seguimiento, el complemento de omega-3 ha mostrado un efecto positivo en la memoria y en el estado anímico. Estos resultados son equiparables a los publicados anteriormente, aunque se trata del primer estudio de estas características realizado en España (AU)

Introduction: Mild cognitive impairment (MCI) affects between 3-17% of the elderly, with conversion rates to dementia of 10% per year. Different published studies have shown the benefit of omega-3 polyunsaturated fatty acids (omega-3) in patients with MCI. Objective: To assess the effect of an omega-3 polyunsaturated fatty acids (docosahexaenoic acid [DHA] and eicosapentaenoic acid [EPA]) food supplement on cognitive state and mood in people aged 60 years and above with MCI. Methods: 60 patients aged 60 years and above with MCI were recruited and were randomly divided into two groups: group with an omega-3 supplement (omega-3 group) and control group. A basal visit and a visit after 24 weeks were conducted. A minimental state examination (MMSE), an abbreviated Barcelona test (a-BT) and a EQ-5D quality of life scale were made in every visit. The differences between both visits and both groups were analyzed. Results: 46 patients completed the study (76.7%), 25 from the omega-3 group and 21 from the control group. There were no differences between both groups for the MMSE score. A significant improvement (p = 0.025) in favour of the omega-3 group for the "Deferred text memory (questions)" item in the a-BT and a significant improvement (p = 0.005) in favour of the omega-3 group for the anxiety/depression section in the EQ-5D were found. Omega-3 supplement was well tolerated. Conclusion: After 24 weeks of follow-up, the omega-3 supplement has shown a benefit on memory and mood. These results are comparable to those published earlier, although this is the first time that such a study has been conducted in Spain (AU)

Tratamiento del dolor neuropático con lacosamida / Treatment of neuropathic pain with lacosamide

Introducción. La lacosamida es un nuevo fármaco antiepiléptico con un mecanismo de acción novedoso al favorecer, de forma selectiva, la inactivación lenta de los canales de sodio dependientes del voltaje, sin actuar sobre la inactivaciónrápida. Existen estudios en la bibliografía sobre su eficacia para el control del dolor neuropático.Casos clínicos. Se describe el uso de la lacosamida intravenosa en el tratamiento de tres enfermos con dolor neuropático: una mujer con dolor neuropático en la primera rama del trigémino derecho durante la fase aguda de un herpes zóster, una mujer con un dolor central secundario a un síndrome de Déjerine-Roussy por una neoplasia cerebral y un varón con dolorfacial debido a una infiltración del trigémino por un linfoma secundario del sistema nervioso central. En los tres casos, la administración de lacosamida intravenosa ha significado una llamativa mejoría del dolor. La dosis de lacosamida ha sido de 200 mg/día, con una excelente tolerabilidad. Conclusión. La lacosamida puede ser una alternativa eficaz y bien tolerada en el tratamiento del dolor neuropático y, además, el uso intravenoso puede acelerar el control del dolor o ser adecuado en caso de no tolerar la vía oral (AU)

Introduction. Lacosamide is a new antiepileptic drug with a novel mechanism of action, as it selectively promotes the slowinactivation of voltage-dependent sodium channels without affecting fast inactivation. There are studies in the literature regarding its effectiveness in controlling neuropathic pain. Case reports. We describe the use of intravenous lacosamide in the treatment of three patients with neuropathic pain: a woman with neuropathic pain in the first branch of the right trigeminal nerve during the acute phase of herpes zoster, a woman with central pain secondary to Déjerine-Roussy syndrome due to a malignant brain tumour, and a man with facial pain due to infiltration of the trigeminal nerve by a secondary lymphoma of the central nervous system. In the three cases, the administration of intravenous lacosamide has led to a considerable improvement in pain. The lacosamide dose has been 200 mg/day with excellent tolerability.Conclusion. Lacosamide can be an effective and well-tolerated alternative in the treatment of neuropathic pain and, moreover, its intravenous use can achieve pain control faster or be suitable when it is not tolerated orally (AU)

[Treatment of neuropathic pain with lacosamide]. / Tratamiento del dolor neuropatico con lacosamida.

INTRODUCTION: Lacosamide is a new antiepileptic drug with a novel mechanism of action, as it selectively promotes the slow inactivation of voltage-dependent sodium channels without affecting fast inactivation. There are studies in the literature regarding its effectiveness in controlling neuropathic pain. CASE REPORTS: We describe the use of intravenous lacosamide in the treatment of three patients with neuropathic pain: a woman with neuropathic pain in the first branch of the right trigeminal nerve during the acute phase of herpes zoster, a woman with central pain secondary to Dejerine-Roussy syndrome due to a malignant brain tumour, and a man with facial pain due to infiltration of the trigeminal nerve by a secondary lymphoma of the central nervous system. In the three cases, the administration of intravenous lacosamide has led to a considerable improvement in pain. The lacosamide dose has been 200 mg/day with excellent tolerability. CONCLUSION: Lacosamide can be an effective and well-tolerated alternative in the treatment of neuropathic pain and, moreover, its intravenous use can achieve pain control faster or be suitable when it is not tolerated orally.