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.

Comamonas kerstersii strains on inpatients with acute appendicitis: Review of literature and Case report / Cepas de Comamonas kerstersii en hospitalizados por apendicitis aguda: Revisión de la literatura y el informe del caso / Comamonas kerstersii cepas em pacientes internados com apendicite aguda: Revisão de literatura e relato de caso

In this article, we describe 6 cases of patients that presented to the emergency room with symptoms and laboratories compatible with the diagnosis of acute appendicitis. What attracts attention about these six cases are the results of the culture of the tissue, which reveals in these six patients the presence of the bacteria Comamonas kerstersii.

En este artículo, describimos 6 casos de pacientes que se presentaron en la sala de emergencias con síntomas y laboratorios compatibles con el diagnóstico de apendicitis aguda. Lo que llama la atención de estos seis casos son los resultados del cultivo del tejido, que revela en estos seis pacientes la presencia de la bacteria Comamonas kerstersii.

Neste artigo, descrevemos 6 casos de pacientes que se apresentaram ao pronto-socorro com sintomas e laboratórios compatíveis com o diagnóstico de apendicite aguda. O que chama a atenção sobre estes seis casos são os resultados da cultura do tecido, que revela nestes seis pacientes a presença da bactéria Comamonas kerstersii.

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.

Quality of life in patients with multiple sclerosis and their caregivers in Colombia: One-year follow-up. / Calidad de vida en pacientes con esclerosis múltiple y sus cuidadores en Colombia: un año de seguimiento

INTRODUCTION: Multiple sclerosis is a chronic inflammatory demyelinating disease associated with neurological disability. Clinical features include motor, cerebellar, visual, and sensory function alterations, as well as psychiatric comorbidities, such as depression, anxiety, and irritability. There is little literature available on the quality of life of patients and their caregivers. OBJECTIVE: To assess the quality of life of patients with multiple sclerosis and their caregivers in Colombia given that there is no information on the subject in this particular population to establish comprehensive management plans. MATERIALS AND METHODS: We used the MusiQol and CareQol questionnaires and the Beck Depression Inventory. A prospective analytical observational protocol was designed to include patients aged 18 to 65 years with a diagnosis of relapsing-remitting multiple sclerosis between October, 2014, and October, 2015, at the Hospital Universitario San Ignacio. We evaluated quantitative variables and Spearman correlations. The data analysis was carried out with Student t and Mann-Whitney U tests. RESULTS: A total of 55 patients with relapsing-remitting multiple sclerosis participated in the study. Chronic fatigue was the most common comorbidity in 27%. The MusiQol questionnaire revealed a good basal quality of life, which remained at similar levels in the follow-ups at six and 12 months. Quality of life was good during the study since there were no statistically significant differences between baseline and follow-up MusiQol scores. Good quality of life was also observed in caregivers. CONCLUSIONS: The quality of life of several Colombian patients diagnosed with multiple sclerosis was very good. This positive result was also observed in caregivers as evidenced by the results of the CareQol questionnaire. We also observed and indicated an inversely proportional correlation between the Expanded Disability Status Scale and the quality of life indexes.

Introducción. La esclerosis múltiple es una enfermedad desmielinizante inflamatoria crónica asociada con discapacidad neurológica que afecta la función motora, cerebelosa, visual y sensorial, y se presenta con comorbilidades psiquiátricas como depresión, ansiedad e irritabilidad. Hay escasa literatura disponible sobre la calidad de vida de los pacientes y sus cuidadores. Objetivo. Evaluar la calidad de vida de los pacientes con esclerosis múltiple y sus cuidadores en Colombia dado que no hay información sobre el tema en esta población en particular para establecer planes de manejo integral. Materiales y métodos. Se utilizaron los cuestionarios MusiQol, CareQol y el inventario de depresión de Beck. Se diseñó un protocolo observacional analítico prospectivo para pacientes de 18 a 65 años con diagnóstico de esclerosis múltiple remitente recurrente entre octubre de 2014 y octubre de 2015 en el Hospital Universitario San Ignacio. Se evaluaron variables cuantitativas y las correlaciones de Spearman. El análisis de datos se hizo mediante la prueba t de Student y la U de Mann-Whitney. Resultados. Participaron 55 pacientes diagnosticados con esclerosis múltiple remitente recurrente. En el 27 % de ellos la fatiga crónica fue la comorbilidad más frecuente. El cuestionario MusiQol reveló una buena calidad de vida de base, que se mantuvo en niveles similares en los seguimientos a los seis y los 12 meses. La calidad de vida fue buena durante el estudio y sin diferencias estadísticamente significativas entre las puntuaciones de base del cuestionario MusiQol y las de seguimiento. Se observó una buena calidad de vida en los cuidadores. Conclusiones. La calidad de vida de los pacientes colombianos participantes en el estudio con diagnóstico de esclerosis múltiple fue muy buena, así como la de los cuidadores según los resultados del cuestionario CareQol. Se observó una correlación inversamente proporcional entre la Expanded Disability Status Scale y los índices de calidad de vida.

Quality of life in patients with multiple sclerosis and their caregivers in Colombia: One-year follow-up / Calidad de vida en pacientes con esclerosis múltiple y sus cuidadores en Colombia: un año de seguimiento

Introduction: Multiple sclerosis is a chronic inflammatory demyelinating disease associated with neurological disability. Clinical features include motor, cerebellar, visual, and sensory function alterations, as well as psychiatric comorbidities, such as depression, anxiety, and irritability. There is little literature available on the quality of life of patients and their caregivers. Objective: To assess the quality of life of patients with multiple sclerosis and their caregivers in Colombia given that there is no information on the subject in this particular population to establish comprehensive management plans. Materials and methods: We used the MusiQol and CareQol questionnaires and the Beck Depression Inventory. A prospective analytical observational protocol was designed to include patients aged 18 to 65 years with a diagnosis of relapsing-remitting multiple sclerosis between October, 2014, and October, 2015, at the Hospital Universitario San Ignacio. We evaluated quantitative variables and Spearman correlations. The data analysis was carried out with Student t and Mann-Whitney U tests. Results: A total of 55 patients with relapsing-remitting multiple sclerosis participated in the study. Chronic fatigue was the most common comorbidity in 27%. The MusiQol questionnaire revealed a good basal quality of life, which remained at similar levels in the follow-ups at six and 12 months. Quality of life was good during the study since there were no statistically significant differences between baseline and follow-up MusiQol scores. Good quality of life was also observed in caregivers. Conclusions: The quality of life of several Colombian patients diagnosed with multiple sclerosis was very good. This positive result was also observed in caregivers as evidenced by the results of the CareQol questionnaire. We also observed and indicated an inversely proportional correlation between the Expanded Disability Status Scale and the quality of life indexes.

Introducción. La esclerosis múltiple es una enfermedad desmielinizante inflamatoria crónica asociada con discapacidad neurológica que afecta la función motora, cerebelosa, visual y sensorial, y se presenta con comorbilidades psiquiátricas como depresión, ansiedad e irritabilidad. Hay escasa literatura disponible sobre la calidad de vida de los pacientes y sus cuidadores. Objetivo. Evaluar la calidad de vida de los pacientes con esclerosis múltiple y sus cuidadores en Colombia dado que no hay información sobre el tema en esta población en particular para establecer planes de manejo integral. Materiales y métodos. Se utilizaron los cuestionarios MusiQol, CareQol y el inventario de depresión de Beck. Se diseñó un protocolo observacional analítico prospectivo para pacientes de 18 a 65 años con diagnóstico de esclerosis múltiple remitente recurrente entre octubre de 2014 y octubre de 2015 en el Hospital Universitario San Ignacio. Se evaluaron variables cuantitativas y las correlaciones de Spearman. El análisis de datos se hizo mediante la prueba t de Student y la U de Mann-Whitney. Resultados. Participaron 55 pacientes diagnosticados con esclerosis múltiple remitente recurrente. En el 27 % de ellos la fatiga crónica fue la comorbilidad más frecuente. El cuestionario MusiQol reveló una buena calidad de vida de base, que se mantuvo en niveles similares en los seguimientos a los seis y los 12 meses. La calidad de vida fue buena durante el estudio y sin diferencias estadísticamente significativas entre las puntuaciones de base del cuestionario MusiQol y las de seguimiento. Se observó una buena calidad de vida en los cuidadores. Conclusiones. La calidad de vida de los pacientes colombianos participantes en el estudio con diagnóstico de esclerosis múltiple fue muy buena, así como la de los cuidadores según los resultados del cuestionario CareQol. Se observó una correlación inversamente proporcional entre la Expanded Disability Status Scale y los índices de calidad de vida.

Clinical and neurophysiological characteristics of patients with Guillain-Barré syndrome at Hospital Universitario San Ignacio, Bogotá, Colombia between 2009 and 2017.

Guillain-Barré syndrome (GBS) is the most common acute peripheral polyneuropathy in the world. The estimated incidence in Colombia is 1.2-1.7 cases per 100 000 inhabitants, although during 2016 an increase in the incidence of the disease was documented, apparently associated with an epidemiological peak of the Zika virus. We conducted to describe the clinical and neurophysiological characteristics of adult patients with GBS treated at Hospital Universitario San Ignacio, Bogota, Colombia, between 2009 and 2017. An observational, descriptive, cross-sectional study was designed.

Highly active multiple sclerosis: An update.

Multiple sclerosis (MS) is the most prevalent chronic inflammatory disease of the central nervous system (CNS), affecting more than 2 million people worldwide. It is characterized by brain and spinal cord involvement. There are the relapsing remitting MS (RRMS), primary progressive MS (PPMS), and secondary progressive MS (SPMS) phenotypes. There is a subgroup of RRMS patients who have a more aggressive disease course marked by a rapid accumulation of physical and cognitive deficit, despite treatment with 1 or more disease modifying drugs (DMTs). In the past, this disease phenotype was called "aggressive" MS (AMS); it is now called highly active MS (HAMS). It is generally agreed that the severe nature of this phenotype requires different treatment decisions. Unfortunately, there is no consensus on the definition of AMS or the treatment algorithm. In this article we review HAMS in relation to its definition and the treatments available.

Mielitis parcial excéntrica como primera manifestación de trastornos del espectro de neuromyelitis óptica: presentación de casos y revisión de la literatura / Eccentric partial myelitis as the first manifestation of optic neuromyelitis spectrum disorders

RESUMEN El entendimiento de las caracteristicas clínicas del espectro de trastornos de Neuromielitis óptica (NMOSD) con mielitis parcial y neuritis óptica típica ha ampliado el diagnóstico en casos atípicos. Presentamos el caso de una mujer de 47 años que debuta con neuritis óptica atípica y mielitis parcial. Resonancia magnética cerebral y órbitas con realce de nervio óptico, quiasma óptico y tracto óptico derecho, de columna cervical y torácica contrastada con mielitis parcial a nivel C4 y T2. Fue tratada con bolos de metilprednisolona y plasmaferesis, con buena respuesta clínica. Se realizó anticuerpos aquaporina 4 sérico positivos.

SUMMARY The understanding of the clinical characteristics of the spectrum of optic neuromyelitis disorders (NMOSD) with partial myelitis and typical optic neuritis has extended the diagnosis in atypical cases. We present the case of a 47-year-old woman who debuts with atypical optic neuritis and partial myelitis. Magnetic resonance imaging and orbits with optic nerve enhancement, optical chiasm and right optic tract, cervical and thoracic spine contrasted with partial myelitis at level C4 and T2. I t was treated with boluses of Methylprednisolone and plasmapheresis, with good clinical response. Aquaporina 4 Serum positive antibodies were performed.