[Medical nutrition therapy in amyotrophic lateral sclerosis - Do we act or react? A case report and multidisciplinary review]. / Tratamiento médico nutricional en la esclerosis lateral amiotrófica: ¿Actuamos o reaccionamos? Un caso clínico y revisión multidisciplinar.

BACKGROUND: amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a progressive course. The current prevalence is between 3 and 6 cases/100,000. Malnutrition is closely related to patient prognosis in ALS. The implications of this conditions have been that we should recommend patient care in a multidisciplinary unit. CASE REPORT: the case presented shows the evolution of a patient with ALS. The patient was referred to different clinical departments after neurological evaluation and her nutritional, functional and respiratory status were assessed. There was no nutritional deterioration at diagnosis; however, intake was below energy-protein requirements. The clinical evolution of the patient showed a decrease in muscle mass with preservation of weight and fat mass. "Aggressive" measures to control nutritional status such as gastrostomy were rejected in the initial stages of the disease, but had to be carried out after development of dysphagia and associated malnutrition. This situation of progressive morphofunctional deterioration and the development of disease-related complications made essential the participation of different health services and professionals in its control. DICUSSION: the management of ALS in a multidisciplinary manner allows to improve the course of the disease and the quality of life of both the patients and their families. Patient follow-up is based on the adjustment and management of complications. The basis of the relationship with these patients includes maintaining an adequate communication with them and their families, and ensuring joint decision-making about their condition.

Methods to Identify Cognitive Alterations from Animals to Humans: A Translational Approach.

The increasing prevalence of cognitive dysfunction and dementia in developed countries, associated with population aging, has generated great interest in characterizing and quantifying cognitive deficits in these patients. An essential tool for accurate diagnosis is cognitive assessment, a lengthy process that depends on the cognitive domains analyzed. Cognitive tests, functional capacity scales, and advanced neuroimaging studies explore the different mental functions in clinical practice. On the other hand, animal models of human diseases with cognitive impairment are essential for understanding disease pathophysiology. The study of cognitive function using animal models encompasses multiple dimensions, and deciding which ones to investigate is necessary to select the most appropriate and specific tests. Therefore, this review studies the main cognitive tests for assessing cognitive deficits in patients with neurodegenerative diseases. Cognitive tests, the most commonly used functional capacity scales, and those resulting from previous evidence are considered. In addition, the leading behavioral tests that assess cognitive functions in animal models of disorders with cognitive impairment are highlighted.

Encefalitis multifocal como manifestación neurológica de la infección por COVID-19 / Multifocal encephalitis as a neurological manifestation of COVID-19 infection

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Exposición a fármacos asociados a agravamiento de síntomas en pacientes con miastenia grave / Drug exposure associated with exacerbation of symptoms in patients with myasthenia gravis

INTRODUCCIÓN: Numerosos fármacos se han relacionado con el agravamiento de síntomas en pacientes con miastenia grave, pero hasta la fecha no existen estudios sobre la exposición a fármacos en estos pacientes. OBJETIVOS: Describir el consumo de fármacos y calcular la tasa anual de episodios de exacerbación en una cohorte de pacientes con miastenia grave, y explorar posibles factores de riesgo de exacerbaciones graves. PACIENTES Y MÉTODOS: Estudio observacional longitudinal retrospectivo que incluye a pacientes adultos con miastenia grave seguidos en consulta. Cálculo de frecuencias, tasas y construcción de modelo de eventos repetidos. RESULTADOS: De 91 pacientes incluidos, el 94,51% estuvo expuesto al menos a un fármaco durante el período de estudio (siete años y un mes). De ellos, 51 tuvieron al menos una prescripción de un fármaco contraindicado en la ficha técnica (56,04%). Se contabilizaron 145 exacerbaciones en 50 pacientes. La tasa anual de incidencia fue de 0,35 exacerbaciones por paciente y año. De estas exacerbaciones, 48 fueron graves (en 18 pacientes), con una tasa anual de incidencia de 0,12. Se halló una posible asociación entre diagnóstico de miastenia grave generalizada y timectomía, con un aumento del riesgo de episodios de exacerbación graves. CONCLUSIONES: En esta cohorte se encontró una amplia exposición a fármacos, pero no asociación con el riesgo de episodios de exacerbación graves. Algo más de la mitad de pacientes tuvo al menos un episodio de exacerbación durante el período de estudio, la mayoría leves. Son necesarios estudios que corroboren estas conclusiones y puedan estudiar posibles correlaciones entre fármacos y el riesgo de episodios de exacerbación

INTRODUCTION: Numerous drugs have been related to exacerbation of myasthenia gravis. So far there are no studies examining the extent of use of drugs related to exacerbation of myasthenia gravis. AIMS: We sought to assess the extent of use of drugs related to exacerbations and the annual incidence rate of exacerbations in a cohort of myasthenia gravis patients. We explored possible risk factors of severe exacerbations. PATIENTS AND METHODS: We performed a retrospective cohort study. We included adult patients followed in neurology department. We estimated frequencies, rates and built a recurrent events model. RESULTS: We included 91 patients. 94.51% of patients had at least one prescription of a drug. 51 patients had at least one prescription of a drug contraindicated according to its drug label. 145 exacerbation episodes were reported in 50 patients. The annual incidence rate of exacerbation episodes was 0.35. 48 exacerbations were severe (in 18 patients). The annual incidence rate of severe exacerbation episodes was 0.12. Generalized myasthenia gravis and thymectomy were associated with a higher risk of severe exacerbation episodes. CONCLUSIONS: Our patients were extensive and widespread exposed to drugs during the follow-up period but we did not find and association with severe exacerbation episodes. Just over half of the patients had at least one exacerbation episode during the study period, most of them were mild. Further studies with larger sample sizes are necessary to corroborate these conclusions and to study possible correlations between the use of drugs and the risk of exacerbation episodes

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.

Cyclization of interlocked fumaramides into ß-lactams: experimental and computational mechanistic assessment of the key intercomponent proton transfer and the stereocontrolling active pocket.

A detailed mechanistic study of the diastereoselective CsOH-promoted cyclization of interlocked fumaramides to give ß-lactams is described. The mechanistic analysis comprises the experimental evaluation of the structure-reactivity relationship for a wide range of fumaramides [2]rotaxanes (Hammet-plots), KIE studies with deuterium-labelled interlocked fumaramides and computational analysis of two alternative mechanistic pathways for the cyclization process. The obtained results confirm that: (a) the rate-determining step is the deprotonation of the N-benzyl group of the thread by the amidate group of the macrocycle generated by the external base, (b) the polyamide macrocycle plays an important role not only as activating element but also as the stereodifferenciating factor responsible for the observed diastereoselection and (c) the higher flexibility of the adamantyl core speeds up the cyclization process in diadamantyl-derived rotaxanes.

El angioedema hereditario en Villa Clara / Prevalence of hereditary angioedema in Villa Clara

El angioedema hereditario es una Inmunodeficiencia primaria por deficiencia del sistema del complemento, caracterizada por episodios recurrentes de edemas de la piel, las mucosas y los tejidos submucosos. El dolor abdominal asociado con angioedema puede ser confundido con un abdomen agudo y conducir a cirugías innecesarias. El edema laríngeo representa un riesgo para la vida del paciente, pues puede ocasionar la muerte por asfixia. En las mujeres, las variaciones hormonales parecen tener una fuerte incidencia sobre la enfermedad. Este edema no responde al tratamiento con esteroides ni antihistamínicos, por tanto hay que diferenciarlo del edema alérgico ysaber tratarlo. Es imperativo el diagnóstico oportuno de este padecimiento, con la finalidad deestablecer un tratamiento adecuado y reducir el riesgo de muerte; por tanto, es muy importante la educación del personal médico sobre esta rara enfermedad, que en esta provincia tiene una alta incidencia(AU)

Rescue Therapy Using Rituximab for Multiple Sclerosis.

OBJECTIVES: The aim of the study was to describe the effectiveness and safety data of rituximab in a group of patients with relapsing-remitting multiple sclerosis (MS) treated with rituximab due to failure of previous treatments or concomitant autoimmune diseases. METHODS: This is an observational study. Rituximab was considered in case of failure of the second-line therapy, failure of the first-line therapy and a contraindication to second-line therapies, or concomitant autoimmune disease. Relapses, the Expanded Disability Status Scale, the EQ VAS, and magnetic resonance imaging activity were assessed. RESULTS: This study included 12 patients with relapsing-remitting MS. The mean (range) age of the patients was 35 (19-54) years. Ten patients were treated with rituximab because of treatment failure, and 2 patients were treated with rituximab because of the development of idiopathic thrombocytopenic purpura. The mean (range) follow-up duration after beginning rituximab was 40 (18-72) months. Rituximab was well tolerated, because no patient experienced serious adverse reactions or discontinued treatment. During treatment with rituximab, no patient suffered a clinical relapse, and magnetic resonance imaging activity was not detected. The Expanded Disability Status Scale scores improved in 11 of 12 patients and remained stable in 1 patient. The EuroQol visual analogue scale scores improved in 8 of 9 patients in whom the EuroQol visual analogue scale was assessed. CONCLUSIONS: Treatment with rituximab seems to be safe and effective for some patients with relapsing-remitting MS who have failed to respond to first- and second-line therapies and may also be a useful option for patients with concomitant autoimmune disorders.

Dermatosis atópica en el niño: etiopatogenia, tratamento y evolución / Atopic dermatitis in child: etiopathogeny treatment and evolution

Se realizó un estudio de los últimos adelantos sobre las alteracions inmunitatrias en la dermatosis atópica. El estudio abarcó 80 pacientes tratados en el Hospital Pediátrico de la ciudad de Santa Clara, Cuba. Se determinaron la patogénesis, el cuadro clínico, los exámenes de laboratorio, el tratamiento y la evolución. Entre los resultados se destaca predominio de la aparición del primer brote antes del año de edad. Los antecedentes patológicos personales y familiares de atopia fueron informados en frecuencia elevada. Se valoraron los tratamientos habitualmente utilizados y se les administró extracto placentario en vacuna a los casos de evolución no satisfactoria