Genetic characterization of Parkinson's disease patients in Ecuador and Colombia.

To help address the scarcity of studies on the genetics of Parkinson's disease (PD) in Latin America, we screened 426 Ecuadorians with PD and 80 Colombians (PD = 55, Control = 26) for mutations within several PD-related genes. Among Colombians, we identified several variants within PARKIN and PINK1 genes.

Prevalence of GBA p.K198E mutation in Colombian and Hispanic populations.

We aimed to replicate a recent study that found a high frequency of the GBA p.K198E mutant in Colombian patients with PD. We identified the p.K198E substitution at a lower frequency in our cohort of Colombians with PD (2.1%), and this was not significantly different than controls (1.7%, P = 0.86) emphasizing the need for larger genetic studies in Latin America.

Edema pulmonar postictal: revisión de la bibliografía / Postictal pulmonary oedema: a review of the literature

Introducción. El edema pulmonar neurógeno postictal es una patología poco frecuente con gravedad variable, probablemente en relación con la muerte súbita asociada a la epilepsia (SUDEP). La frecuencia es mayor en pacientes con crisis tonicoclónicas generalizadas de larga duración o con estado epiléptico. Objetivo. Por medio de una revisión de la bibliografía se pretende describir las características clínicas, la fisiopatología, los hallazgos radiológicos, el tratamiento y el pronóstico de los pacientes con edema pulmonar postictal. Desarrollo. Se realizó una búsqueda de la bibliografía en las bases de datos PubMed, Embase, Cochrane y BVS empleando una combinación de términos libres. Se aplicaron como límites de búsqueda: artículos publicados desde el 1 de enero de 2000 hasta el 26 de abril de 2018 y artículos que contaran con el resumen disponible. En total se revisaron 23 artículos, en su mayoría casos clínicos, de los cuales se obtuvo la información para desarrollar la revisión. Conclusiones. En el edema pulmonar postictal, el tipo de crisis más frecuentemente comunicada es la tonicoclónica generalizada. Las manifestaciones clínicas más habituales fueron disnea y taquicardia de aparición en los minutos posteriores a la crisis. En los paraclínicos, el hallazgo más frecuente fue leucocitosis. En general se encontró un buen pronóstico en la mayoría de los casos, con mejoría del edema entre las 12 y las 96 horas. Únicamente dos de los 21 pacientes comunicados fallecieron. Además, en un estudio clínico de patología en pacientes con SUDEP, el edema pulmonar apareció en la mayoría de los casos

Introduction. Postictal neurogenic pulmonary oedema is an infrequent condition of varying severity, probably related to sudden unexpected death in epilepsy (SUDEP). It is more frequent in patients with generalised tonic-clonic seizures of long duration or with status epilepticus. Aim. Based on a review of the literature, the aim is to describe the clinical characteristics, pathophysiology, radiological findings, treatment and prognosis of patients with postictal pulmonary oedema. Development. A search of the literature was performed in the PubMed, Embase, Cochrane Database of Systematic Reviews and BVS databases using a combination of free terms. The limits of the search applied were: papers published between 1 January 2000 and 26 April 2018, and papers for which the abstract was available. Altogether 23 papers were found, most of which were clinical cases, and used to extract the information needed to carry out the review. Conclusions. In postictal pulmonary oedema, generalised tonic-clonic seizures are the most frequently reported type. The most common clinical manifestations were dyspnoea and tachycardia appearing within a few minutes after the seizure. Among the paraclinical findings the most frequent was leukocytosis. In general terms, a good prognosis was found in most cases, with improvement of the oedema within a period of between 12 and 96 hours. Only two of the 21 patients reported died. In addition, in a clinical pathology study in patients with SUDEP, pulmonary oedema appeared in most cases

Postictal neurogenic pulmonary edema: Case report and brief literature review.

Cardiopulmonary complications associated with epilepsy are generally associated with generalized tonic-clonic seizures, as a consequence of systemic adrenergic discharge and release of inflammatory mediators. We present a case of a 34-year-old woman with a history of Focal epilepsy since adolescence, who presented self-limited pulmonary edema following a focal to bilateral tonic-clonic seizure with subsequent resolution of the symptoms. We also made a brief review of neurogenic pulmonary edema, its proposed pathophysiology, treatment and its relation with sudden unexpected death in epilepsy (SUDEP).

Changes in sleep patterns after vagus nerve stimulation, deep brain stimulation or epilepsy surgery: Systematic review of the literature.

PURPOSE: Perform a systematic review of the literature on the effects of vagus nerve stimulation (VNS), deep brain stimulation (DBS) and epilepsy surgery in subjective and objective sleep parameters. METHODS: We performed a literature search in the main medical databases: Medline, Embase, Cochrane, DARE and LILACS, looking for studies that evaluated the effects of VNS, DBS or epilepsy surgery on sleep parameters. In all, 36 studies, coming from 11 countries, including reviews, cohort studies, case series and case reports were included. RESULTS: VNS induces sleep apnoea dependent of the stimulation variables. This condition can be reverted modifying these settings. Surgical procedures for epilepsy cause an improvement in objective and subjective sleep parameters that depend on the success of the procedure evaluated through ictal frequency control. There is evidence that non-pharmacologic treatment of epilepsy has different effects on sleep patterns. CONCLUSION: It is advisable to include objective and subjective sleep parameters in the initial evaluation and follow-up of patients considered for invasive procedures for epilepsy control, especially with VNS due to the risk of sleep apnoea. More high quality studies are needed.

Paquimeningitis hipertrófica. Manifestación inusual en las vasculitis anca-positivas / Hypertrophic Pachymeningitis. Unusual manifestation in vasculitis anca-positive

Introducción: La vasculitis ANCA-positiva es una patología que se caracteriza por daño en vasos de pequeño calibre secundario a auto-anticuerpos. El compromiso del sistema nervioso central es poco común, con complicaciones serias y de difícil diagnóstico. Por eso presenta-mos 3 casos de pacientes con paquimeningitis hipertrófica como manifestación neurológica de vasculitis ANCA-positiva, estudiados en el Hospital Universitario San Ignacio de Bogotá. Casos:Se tratan de dos hombres y una mujer. El hombre del primer caso presentó clínica progresiva de 1 año de evolución de dolor ocular, alteración de la agudeza visual, limitación para los movimientos oculares y disartria (Imagen 1).

Hallazgos radiológicos en sistema nervioso central (SNC) del síndrome de MELAS: reporte de caso / Radiological findings of MELAS syndrome in central nervous system (CNS): case report

RESUMEN Presentamos el caso clínico de una paciente adulta joven con episodios recurrentes sugestivos de ataque cerebrovascular, con cambios radiológicos típicos de enfermedad de MELAS con confirmación genética de mutación en el gen A3243G.

SUMMARY A clinical case of a young adult patient with recurrent episodes suggestive of stroke, with typical radiological changes of MELAS disease with genetic confirmation of mutation in A3243G gene.