Estudio comparativo de los niveles plasmáticos de homocisteína, vitamina B12 y ácido fólico en pacientes epilépticos frente a controles / Comparative case-control study of homocysteine, vitamin B12, and folic acid levels in patients with epilepsy

Introducción: El aumento de homocisteína en sangre constituye un conocido factor de riesgo cardiovascular. Los pacientes epilépticos en tratamiento crónico con fármacos antiepilépticos pueden presentar niveles más elevados de homocisteína y, en consecuencia, un potencial aumento del riesgo cardiovascular. Material y métodos: Estudio observacional de casos y controles para la comparación de los niveles plasmáticos de homocisteína, ácido fólico y vitamina B12. Resultados: Se reclutó a un total de 88 sujetos, 52 de ellos epilépticos y 36 controles. Se observó una tendencia a niveles de homocisteína más elevados (p=0,084) en los pacientes epilépticos y unos valores de ácido fólico más bajos (p<0,05). Conclusiones: Por su potencial efecto como factor de riesgo cardiovascular, es importante prestar atención a los niveles de homocisteína en los pacientes epilépticos en tratamiento crónico con fármacos antiepilépticos y en caso de encontrar niveles elevados sugerimos la instauración de tratamiento específico (AU)

Introduction: Increased blood homocysteine levels are a known cardiovascular risk factor. Epileptic patients on long-term treatment with antiepileptic drugs may present higher homocysteine levels and, consequently, a potential increase in cardiovascular risk. Material and methods: We conducted an observational case-control study to compare plasma levels of homocysteine, folic acid, and vitamin B12. Results: Our study included a total of 88 subjects: 52 patients with epilepsy and 36 controls. Epileptic patients showed higher homocysteine levels (P=.084) and lower levels of folic acid (P<.05). Conclusion: Homocysteine levels should be monitored in epileptic patients on long-term treatment with antiepileptic drugs. We suggest starting specific treatment in patients with high homocysteine levels (AU)

Comparative case-control study of homocysteine, vitamin B12, and folic acid levels in patients with epilepsy. / Estudio comparativo de los niveles plasmáticos de homocisteína, vitamina B12 y ácido fólico en pacientes epilépticos frente a controles.

INTRODUCTION: Increased blood homocysteine levels are a known cardiovascular risk factor. Epileptic patients on long-term treatment with antiepileptic drugs may present higher homocysteine levels and, consequently, a potential increase in cardiovascular risk. MATERIAL AND METHODS: We conducted an observational case-control study to compare plasma levels of homocysteine, folic acid, and vitamin B12. RESULTS: Our study included a total of 88 subjects: 52 patients with epilepsy and 36 controls. Epileptic patients showed higher homocysteine levels (P=.084) and lower levels of folic acid (P<.05). CONCLUSION: Homocysteine levels should be monitored in epileptic patients on long-term treatment with antiepileptic drugs. We suggest starting specific treatment in patients with high homocysteine levels.

Epigenética y epilepsia / Epigenetics and epilepsy

Introducción: La epigenética es el estudio de los cambios heredables en el ADN sin afectar a las secuencia de nucleótidos. Entre los mecanismos de regulación epigenética, los más estudiados y conocidos hasta la fecha son la metilación del ADN, la modificación de las histonas y los ARN no codificantes. Mediante estos mecanismos se regula la expresividad génica y la alteración de los mismos puede llevar al desarrollo de patologías. Desarrollo: Describimos los principales mecanismos de regulación epigenética y realizamos una revisión de la bibliografía reciente sobre los mecanismos de regulación epigenética y su implicación en distintos síndromes epilépticos. Conclusión: La identificación de los mecanismos epigenéticos implicados en la epilepsia constituye una prometedora vía de investigación para profundizar en el conocimiento de la fisiopatología y terapéutica de esta enfermedad

Introduction: Epigenetics is the study of heritable modifications in gene expression that do not change the DNA nucleotide sequence. Some of the most thoroughly studied epigenetic mechanisms at present are DNA methylation, post-transcriptional modifications of histones, and the effect of non-coding RNA molecules. Gene expression is regulated by means of these mechanisms and disruption of these molecular pathways may elicit development of diseases. Development: We describe the main epigenetic regulatory mechanisms and review the most recent literature about epigenetic mechanisms and how those mechanisms are involved in different epileptic syndromes. Conclusion: Identifying the epigenetic mechanisms involved in epilepsy is a promising line of research that will deliver more in-depth knowledge of epilepsy pathophysiology and treatments

Epigenetics and epilepsy.

INTRODUCTION: Epigenetics is the study of heritable modifications in gene expression that do not change the DNA nucleotide sequence. Some of the most thoroughly studied epigenetic mechanisms at present are DNA methylation, post-transcriptional modifications of histones, and the effect of non-coding RNA molecules. Gene expression is regulated by means of these mechanisms and disruption of these molecular pathways may elicit development of diseases. DEVELOPMENT: We describe the main epigenetic regulatory mechanisms and review the most recent literature about epigenetic mechanisms and how those mechanisms are involved in different epileptic syndromes. CONCLUSION: Identifying the epigenetic mechanisms involved in epilepsy is a promising line of research that will deliver more in-depth knowledge of epilepsy pathophysiology and treatments.

[Primary suprarenal insufficiency and multiglandular atrophy in a patient affected by myotonic dystrophy]. / Insuficiencia suprarrenal primaria y atrofia pluriglandular en un paciente afecto de distrofia miotónica.

We present the case of a 27 year old man diagnosed as having myotonic dystrophy (MD) who showed two novelties with respect to those endocrinopathies hitherto described as being associated with MD: primary suprarenal failure and pluriglandular atrophy (thyroid and suprarenal, in addition to the already known testicular type). We describe here the results of a clonic, hormonal and genetic study of the proband and his family (a carrier father and an affected brother). We discuss the possible etiopathogenesis of the picture which, in our opinion, could consist of an abnormality of the AMPc dependent protein-kinase, related to the MD gene (PKMD). Consequently intracellular signaling was altered after the union of peptide hormones (in our case ACTH, LH and TSH) to their receptor leading, through the lack of trophic stimulus, to glandular atrophy. We conclude that before diagnosing MD, it is convenient to add suprarenal study to the traditional evaluations of possible associated endocrinopathies.

[Neck-tongue syndrome secondary to abrupt head movements. Clinical study and conservative treatment]. / Síndrome cuello-lengua secundario a giros bruscos de la cabeza. Estudio clínico y tratamiento conservador.

The neck-tongue syndrome is an extremely rare entity consisting of the compression of the second cervical root in the atloaxoid space in relation to certain brusque movements of the neck. Given the infrequency of this syndrome, the authors present a diagnosed and controlled case of the same in the Reina Sofia Hospital in Tudela. A 25 year old patient was consulted who, for some time, had presented paresthesia in the right half of the tongue and contraction of the cervical musculature related to certain neck postures made during sports activities. Clinical examination was completely normal. Radiography only demonstrated a defect in the segmentation between the posterior C2, C3 arches. Herewith, the authors have revised the literature concerning the topic, discuss the physiopathological theories made in other studies and analyze the therapeutic possibilities of the disease inclinning towards conservative treatment.