Clinical outcomes and prognostic factors in patients with optic neuritis related to NMOSD and MOGAD in distinct ethnic groups from Latin America.

BACKGROUND: Optic neuritis (ON) can be an initial manifestation of neuromyelitis optica spectrum disorder (NMOSD) associated with aquaporin 4-antibody (AQP4-Ab) or myelin oligodendrocyte glycoprotein antibody (MOG-Ab)-associated disease (MOGAD). Additionally, both diseases may have overlapping paraclinical and radiological features. These diseases may have different outcomes and prognoses. We aimed to compare clinical outcomes and prognostic features of patients with NMOSD and MOGAD presenting ON as first attack, from different ethnic groups in Latin America. METHODS: We conducted a retrospective observational multicenter study in patients from Argentina (n = 61), Chile (n = 18), Ecuador (n = 27), Brazil (n = 30), Venezuela (n = 10) and Mexico (n = 49) with MOGAD or NMOSD related ON. Predictors of disability outcomes at last follow-up, namely visual disability (Visual Functional System Score ≥4), motor disability (permanent inability to walk further than 100 m unaided) and wheelchair dependence based on EDSS score were evaluated. RESULTS: After a mean disease duration of 42.7 (±40.2) months in NMOSD and 19.7 (±23.6) in MOGAD, 55% and 22% (p>0.001) experienced permanent severe visual disability (visual acuity from 20/100 to 20/200), 22% and 6% (p = 0.01) permanent motor disability and 11% and 0% (p = 0.04) had become wheelchair dependent, respectively. Older age at disease onset was a predictor of severe visual disability (OR=1,03 CI95%1.01-1.05, p = 0.03); older age at disease onset (OR=1,04 CI95%1.01-1.07, p = 0.01), higher number of relapses (OR=1,32 CI95%1.02-1.71, p = 0.03) and rituximab treatment (OR=0,36 CI95%0.14-0.90, p = 0.02) were predictors of permanent motor disability, whereas ON associated with myelitis at disease onset was a predictor of wheelchair dependency (OR=4,16, CI95%1.23-14.08, p = 0,02) in NMOSD patients. No differences were found when evaluating distinct ethnic groups (Mixed vs. Caucasian vs. Afro-descendant) CONCLUSIONS: NMOSD was associated with poorer clinical outcomes than MOGAD. Ethnicity was not associated with prognostic factors. Distinct predictors of permanent visual and motor disability and wheelchair dependency in NMOSD patients were found.

Síndrome de quilomicronemia familiar: primer caso reportado en Ecuador / Familial chylomicronemia syndrome: The first case reported in Ecuador

El síndrome de quilomicronemia familiar (SQF) es una entidad genética de herencia autosómica recesiva. Las mutaciones en genes (como APOC2, APOAV, LMF-1, GPIHBP-1) que codifican para proteínas que regulan la maduración, transporte o polimerización de lipoproteína lipasa-1 son las causas más comunes, pero no las únicas. El objetivo de este estudio fue reportar el primer caso documentado en el Ecuador.Caso clínico: hombre de 38 años que presentó hepatoesplenomegalia crónica, trombocitopenia, atrofia pancreática e hipertrigliceridemia severa refractaria al tratamiento. Se realizó un análisis molecular por secuenciación de nueva generación que determinó una deficiencia de lipoproteína lipasa OMIM #238600 en homocigosis. La confirmación genética es necesaria a fin de poder establecer la etiología de HTGS para un adecuado manejo de esta patología.(AU)

Familial chylomicronemia syndrome (FCS) is a genetic entity with autosomal recessive inheritance. Mutations in genes (such as APOC2, APOAV, LMF-1, GPIHBP-1) that code for proteins that regulate the maturation, transport, or polymerization of lipoprotein lipase-1 are the most common causes, but not the only ones. The objective of this study was to report the first documented case in Ecuador.Clinical caseA 38-year-old man presented with chronic hepatosplenomegaly, thrombocytopenia, pancreatic atrophy, and severe hypertriglyceridemia refractory to treatment. A molecular analysis was performed by next generation sequencing that determined a deficiency of Lipoprotein Lipase OMIM #238600 in homozygosis. Genetic confirmation is necessary in order to establish the etiology of HTGS for an adequate management of this pathology.(AU)

Mobility restrictions and mental health among young adults during the COVID-19 pandemic in Ecuador / Restricción de movilidad y salud mental entre adultos jóvenes durante la pandemia de COVID-19 en Ecuador

Objective: To study the association between mobility restriction and mental health outcomes among Ecuadorian young adults. Method: The present is a cross-sectional study that included a non-probabilistic sample of mostly highly educated young adults. Socio-demographic and mental health data were collected through an online survey, between May and June 2020, when confinement was mandatory in Ecuador. Data on mobility was extracted from Google Community Mobility Reports. Four aspects of the participants’ mental health were evaluated: eating behavior (emotional eating), depression, sleep quality and sense of coherence as a proxy of resilience, using previously validated instruments. Data were analyzed using multiple linear regression models in R. Results: Sample included 8426 young adults, with a mean age of 22.85 (standard deviation: 4.43), most of whom were women (n = 5943, 70.53%). During mandatory confinement, in Ecuador mobility in general was reduced by nearly 50% in comparison to January/February, 2020. Less healthy eating behavior, depression, worse sleep quality and lower sense of coherence were associated with higher mobility restriction to workplaces and groceries/pharmacies. Women and youngsters more often showed depression, less healthy eating behavior, worse quality of sleep and lower sense of coherence in comparison with men and older respondents. Conclusions: Mobility restrictions during COVID-19 pandemic were associated with worse self-reported mental health in a sample of young highly-educated Ecuadorian adults. Women and youngsters were the most affected. Our findings highlight the need of implementing health promotion measures directed to ameliorate the effects of confinement on mental health, focusing on women and youngsters. (AU)

Objetivo: Estudiar la asociación entre la restricción de movilidad y la salud mental en personas adultas jóvenes de Ecuador. Método: Estudio transversal que incluyó una muestra no probabilística de personas adultas jóvenes con alto nivel de educación. Los datos sociodemográficos y de salud mental se recolectaron entre mayo y junio de 2020, cuando el confinamiento fue obligatorio, usando una encuesta en línea. Los datos sobre movilidad se extrajeron de Google Community Mobility Reports. Se evaluaron cuatro aspectos de la salud mental: alimentación emocional, depresión, calidad de sueño y sentido de coherencia como proxy de resiliencia, usando instrumentos previamente validados. Los datos se analizaron con modelos de regresión lineal múltiple usando R. Resultados: La muestra incluyó 8426 jóvenes, con una edad media de 22,85 años (desviación estándar: 4.43), mujeres en su mayoría (n = 5943, 70.53%). Durante el confinamiento obligatorio, la movilidad se redujo aproximadamente un 50%. Comportamientos alimentarios menos saludables, depresión, peor calidad del sueño y menor sentido de coherencia se asociaron con mayor restricción de movilidad a lugares de trabajo y pequeños comercios o farmacias. Mujeres y jóvenes mostraron con mayor frecuencia depresión, conductas alimentarias menos saludables, peor calidad del sueño y menor sentido de coherencia. Conclusiones: Las restricciones de movilidad durante la pandemia de COVID-19 se asociaron con una peor salud mental en personas adultas jóvenes con alto nivel de educación. Mujeres y jóvenes fueron los más afectados. Es necesario implementar medidas de promoción de la salud dirigidas a paliar los efectos del confinamiento en la salud mental, especialmente en mujeres y jóvenes. (AU)

Familial chylomicronemia syndrome: The first case reported in Ecuador. / Síndrome de quilomicronemia familiar: primer caso reportado en Ecuador.

Familial chylomicronemia syndrome (FCS) is a genetic entity with autosomal recessive inheritance. Mutations in genes (such as APOC2, APOAV, LMF-1, GPIHBP-1) that code for proteins that regulate the maturation, transport, or polymerization of lipoprotein lipase-1 are the most common causes, but not the only ones. The objective of this study was to report the first documented case in Ecuador. CLINICAL CASE: A 38-year-old man presented with chronic hepatosplenomegaly, thrombocytopenia, pancreatic atrophy, and severe hypertriglyceridemia refractory to treatment. A molecular analysis was performed by next generation sequencing that determined a deficiency of Lipoprotein Lipase OMIM #238600 in homozygosis. Genetic confirmation is necessary in order to establish the etiology of HTGS for an adequate management of this pathology.

Cognitive function and vitamin B12 and D among community-dwelling elders: A cross-sectional study.

BACKGROUND & AIMS: Little is know on the association between mild or sub-clinical vitamin B12 or D deficiencies and cognitive decline. The objective of the present work was to evaluate the association between vitamin B12 and D levels, and cognitive function in community-dwelling elders. METHODS: Cross-sectional study that included data from elders who participated in the SABE study, a population-based study that was carried out in Ecuador. Participants of SABE were selected by probabilistic sampling from the whole country. Vitamin B12 and D were measured in blood and cognitive status was assessed using an abbreviated version of the minimental state examination (MMSE). RESULTS: The sample included 1733 elders from whom 936 (54.01%) were female. Independently from sex, age, years of education, ethnicity, socioeconomic status and geographical zone of residence, we found that vitamin B12 levels were associated to MMSE scores and that this relationship changed depending on age. In this way, we observed that from 75 years of age, drop of cognitive function was particularly steep in individuals with low levels of vitamin B12. We did not find evidence to support an association between vitamin D levels and cognitive function. CONCLUSIONS: Low levels of vitamin B12 but not of vitamin D are associated with low cognitive functioning in a sample of community-dwelling elders.

Hemodiálisis vs Hemodiafiltración en línea / Hemodialysis vs Hemodiafiltration online

INTRODUCCIÓN. La incorporación de nuevas tecnologías como la hemodiafiltración en línea, han mejorado parámetros metabólicos/nutricionales en los pacientes que se encontraban en hemodiálisis convencional; en la actualidad no existen datos registrados en la población ecuatoriana que se encuentra sometida a esta clase de tecnologías. OBJETIVO. Comparar la evolución clínico-metabólica de pacientes que estaban en hemodiálisis convencional y cambiaron a hemodiafiltración en línea, determinar si es favorable la migración de la terapia hemodialítica difusiva a convectiva y establecer si el cambio de terapia dialítica ocasionó resultados favorables. MATERIALES Y MÉTODOS. Estudio analítico retrospectivo. Población y muestra de 38 pacientes enfermos renales crónicos en terapia de sustitución renal modalidad hemodiálisis convencional que cambiaron a hemodiafiltración en línea, independientemente del tiempo de diagnóstico y tratamiento en la unidad de hemodiálisis del Hospital de Especialidades Carlos Andrade Marín, Quito-Ecuador, durante el periodo marzo 2016 a marzo 2017. RESULTADOS. Los efectos nutricionales y metabólicos pudieron denotar mayor ponderación de resultados favorables en la modalidad de hemodiafiltración. En la estabilidad hemodinámica y la dosis de diálisis se evidenció una leve superioridad en la modalidad de hemodiafiltración en comparación a la Hemodiálisis. En las dosis administradas de Calcio, Hierro, Eritropoyetina y Calcitriol no existieron diferencias significativas entre las dos modalidades de tratamientos. CONCLUSIÓN. El cambio de modalidad de Hemodiálisis convencional a Hemodiafiltración en línea fue favorable, y mejoró los parámetros clínicos/metabólicos de los pacientes que requieren terapia de sustitución renal.

INTRODUCTION. The incorporation of new technologies such as online haemodiafiltration have improved metabolic/nutritional parameters in patients who were on conventional haemodialysis; At present, there are no registered data on the Ecuadorian population that is subjected to this kind of technology. OBJECTIVE. To compare the clinical-metabolic evolution of patients who were on conventional hemodialysis and changed to online hemodiafiltration, to determine if the migration from diffusive to convective hemodialysis therapy is favorable and to establish if the change in dialysis therapy caused favorable results. MATERIALS AND METHODS. Retrospective analytical study. Population and sample of 38 patients with chronic kidney disease in conventional hemodialysis modality renal replacement therapy who changed to online hemodiafiltration, regardless of the time of diagnosis and treatment in the hemodialysis unit of the Hospital de Especialidades Carlos Andrade Marín, Quito-Ecuador, during the period March 2016 to March 2017. RESULTS. The nutritional and metabolic effects could denote a greater weighting of favorable results in the hemodiafiltration modality. In hemodynamic stability and dialysis dose, a slight superiority was evidenced in the hemodiafiltration modality compared to hemodialysis. In the administered doses of Calcium, Iron, Erythropoietin and Calcitriol there were no significant differences between the two treatment modalities. CONCLUSION. The change of modality from conventional hemodialysis to online hemodiafiltration was favorable, and improved the clinical/metabolic parameters of patients requiring renal replacement therapy.

Mobility restrictions and mental health among young adults during the COVID-19 pandemic in Ecuador.

OBJECTIVE: To study the association between mobility restriction and mental health outcomes among Ecuadorian young adults. METHOD: The present is a cross-sectional study that included a non-probabilistic sample of mostly highly educated young adults. Socio-demographic and mental health data were collected through an online survey, between May and June 2020, when confinement was mandatory in Ecuador. Data on mobility was extracted from Google Community Mobility Reports. Four aspects of the participants' mental health were evaluated: eating behavior (emotional eating), depression, sleep quality and sense of coherence as a proxy of resilience, using previously validated instruments. Data were analyzed using multiple linear regression models in R. RESULTS: Sample included 8426 young adults, with a mean age of 22.85 (standard deviation: 4.43), most of whom were women (n=5943, 70.53%). During mandatory confinement, in Ecuador mobility in general was reduced by nearly 50% in comparison to January/February, 2020. Less healthy eating behavior, depression, worse sleep quality and lower sense of coherence were associated with higher mobility restriction to workplaces and groceries/pharmacies. Women and youngsters more often showed depression, less healthy eating behavior, worse quality of sleep and lower sense of coherence in comparison with men and older respondents. CONCLUSIONS: Mobility restrictions during COVID-19 pandemic were associated with worse self-reported mental health in a sample of young highly-educated Ecuadorian adults. Women and youngsters were the most affected. Our findings highlight the need of implementing health promotion measures directed to ameliorate the effects of confinement on mental health, focusing on women and youngsters.

Chiasmatic lesions on conventional magnetic resonance imaging during the first event of optic neuritis in patients with neuromyelitis optica spectrum disorder and myelin oligodendrocyte glycoprotein-associated disease in a Latin American cohort.

BACKGROUND AND PURPOSE: Optic neuritis (ON) is often the initial symptom of neuromyelitis optica spectrum disorder (NMOSD) and myelin oligodendrocyte glycoprotein-associated disease (MOGAD). We aimed to compare the frequency and pattern of chiasmatic lesions in MOGAD-related ON (MOGAD-ON) and NMOSD-related ON (NMOSD-ON) using conventional brain imaging (magnetic resonance imaging [MRI]) in Latin America (LATAM). METHODS: We reviewed the medical records and brain MRI (≤30 days from ON onset) of patients with a first event of MOGAD-ON and NMOSD-ON. Patients from Argentina (n = 72), Chile (n = 21), Ecuador (n = 31), Brazil (n = 30), Venezuela (n = 10) and Mexico (n = 82) were included. Antibody status was tested using a cell-based assay. Demographic, clinical, imaging and prognostic (as measured by the Visual Functional System Score [VFSS] of the Expanded Disability Status Scale) data were compared. RESULTS: A total of 246 patients (208 NMOSD and 38 MOGAD) were included. No differences were found in gender and ethnicity between the groups. We observed chiasmatic lesions in 66/208 (31.7%) NMOSD-ON and in 5/38 (13.1%) MOGAD-ON patients (p = 0.01). Of these patients with chiasmatic lesions, 54/66 (81.8%) and 4/5 had associated longitudinally extensive optic nerve lesions, 45/66 (68%) and 4/5 had bilateral lesions, and 31/66 (47%) and 4/5 showed gadolinium-enhancing chiasmatic lesions, respectively. A positive correlation was observed between VFSS and presence of bilateral (r = 0,28, p < 0.0001), chiasmatic (r = 0.27, p = 0.0001) and longitudinally extensive lesions (r = 0,25, p = 0.0009) in the NMOSD-ON group, but no correlations were observed in the MOGAD-ON group. CONCLUSIONS: Chiasmatic lesions were significantly more common in NMOSD than in MOGAD during an ON attack in this LATAM cohort. Further studies are needed to assess the generalizability of these results.

Trasplante Hepático: Supervivencia global del receptor en el Hospital de Especialidades Carlos Andrade Marín / Liver Transplantation: Overall survival at the Carlos Andrade Marín Specialty Hospital

INTRODUCCIÓN. El primer trasplante hepático en el mundo se realizó en Estados Unidos en 1963 por Thomas Starzl, hasta la década de los 90 la supervivencia al año fue de 73% y a los 5 años de 64%, según diferentes series que abarcaron más de 1 000 trasplantes realizados hasta 1989. El Ecuador requiere de estas estadísticas. El Hospital de Especialidades Carlos Andrade Marín inició la actividad del programa en mayo del 2016. OBJETIVO. Conocer la supervivencia global de los pacientes sometidos a trasplante hepático. MATERIALES Y MÉTODOS. Estudio observacional, descriptivo, con una población igual a la muestra de 62 datos de Historias Clínicas del Programa de Trasplante Hepático en la Unidad Técnica de Trasplante del Hospital de Especialidades Carlos Andrade Marín en el período mayo 2016 a diciembre 2019. Criterios de inclusión: pacientes so-metidos a trasplante hepático, con seguimiento durante 43 meses. La información se obtuvo de la base de datos del sistema AS400; se analizaron en el programa estadístico International Business Machines Statistical Package for the Social Sciences, versión 23.0. RESULTADOS. La supervi-vencia global a los 12 meses fue 72% (17; 62) y a los 43 meses fue 69% (19; 62). DISCUSIÓN. Se evidenció similares resultados descritos de supervivencia en centros con actividad en periodos cortos, menor a 5 años. CONCLUSIÓN. Se pudo conocer la supervivencia global de los pacientes trasplantados del hospital, cuya expectativa motiva a potenciar el programa para mejorar la calidad de vida de los pacientes candidatos a trasplante.

INTRODUCTION. The first liver transplant in the world was performed in the United States in 1963 by Thomas Starzl, until the 90s the survival at one year was 73% and at 5 years it was 64%, accor-ding to different series that included more than 1 000 transplants carried out until 1989. Ecuador re-quires these statistics. The Carlos Andrade Marín Specialty Hospital began program activity in May 2016. OBJECTIVE. To know the overall survival of patients undergoing liver transplantation. MATE-RIALS AND METHODS. Observational, descriptive study, with a population equal to the sample of 62 data from the Medical Records of the Liver Transplant Program in the Technical Transplant Unit of the Carlos Andrade Marín Specialty Hospital in the period May 2016 to December 2019. Inclusion criteria: patients submitted to liver transplantation, with follow-up for 43 months. The information was obtained from the AS400 system database; were analyzed in the statistical program Internatio-nal Business Machines Statistical Package for the Social Sciences, version 23.0. RESULTS. Ove-rall survival at 12 months was 72% (17; 62) and at 43 months it was 69% (19; 62). DISCUSSION. Similar survival results described were evidenced in centers with activity in short periods, less than 5 years. CONCLUSION. It was possible to know the overall survival of the transplanted patients at the hospital, whose expectation motivates us to promote the program to improve the quality of life of the transplant candidates.

Aplicación de la escala de MELD en los pacientes del Programa de Trasplante Hepático / Application of the MELD scale in patients of the Liver Transplant Program

INTRODUCCIÓN. La escala Model for End-Stage Liver Desease se utiliza para conocer el estadio de la enfermedad hepática y para la asignación de órganos en los pacientes candidatos a trasplante. OBJETIVO. Validar la utilidad de la escala en pacientes adultos del Programa de Trasplante Hepático y su aplicación en la priorización de injertos para pacientes en lista de espera. MATERIALES Y MÉTODOS. Estudio observacional, descriptivo. De una población de 103 Historias Clínicas, se tomó una muestra de 95 registros del Programa de Trasplante Hepático del Hospital de Especialidades Carlos Andrade Marín en el período mayo 2016 a marzo 2020. Criterios de inclusión: datos de pacientes con diagnóstico de enfermedad hepática terminal, de ambos sexos, con edades comprendidas entre 14 y 65 años. La información se tomó del sistema AS400 y se analizaron en el programa estadístico International Business Machines Statistical Package for the Social Sciences, versión 23.0 y el estimador Kaplan-Meier. RESULTADOS. La sobrevida en lista de espera fue del 86,3% (82; 95) y en el post trasplante del 72,5% (44; 62) a los 12 meses y 68,9% (42; 62) a los 46 meses de seguimiento. DISCUSIÓN. Esta escala se consideró para los pacientes graves, asignándoles un puntaje que les permitió tener la opción de recibir un trasplante en relación a otros pacientes. CONCLUSIÓN. Se validó la utilidad de la escala, no se encontró diferencia significativa, pero mantuvo el principio de prioridad para los pacientes con mayor severidad.

INTRODUCTION. The Model for End-Stage Liver Desease scale is used to determine the stage of liver disease and for organ allocation in transplant candidates. OBJECTIVE. To validate the usefulness of the scale in adult patients of the Liver Transplantation Program and its application in the prioritization of grafts for patients on the waiting list. MATERIALS AND METHODS. Observational, descriptive study. From a population of 103 Medical Records, a sample of 95 records was taken from the Liver Transplantation Program of the Carlos Andrade Marín Specialty Hospital in the period may 2016 to march 2020. Inclusion criteria: data from patients with a diagnosis of terminal liver disease, of both sexes, aged between 14 and 65 years. The information was taken from the AS400 system and analyzed using the International Business Machines Statistical Package for the Social Sciences, version 23.0 and the Kaplan-Meier estimator. RESULTS. Survival on the waiting list was 86,3% (82; 95) and post-transplant survival was 72,5% (44; 62) at 12 months and 68,9% (42; 62) at 46 months of follow up. DISCUSSION. This scale was considered for seriously ill patients, assigning them a score that allowed them to have the option of receiving a transplant in relation to other patients. CONCLUSIONS. The utility of the scale was validated, no significant difference was found, but it maintained the principle of priority for patients with greater severity.

Trasplante hepático infantil: necesidad del país, normativa y legislación para priorizar a los pacientes pediátricos / Pediatric liver transplant, need of country, normative and legislation to prioritize pediatric patient

El Ecuador no contaba con un programa de trasplante hepático infantil y fue un problema para las autoridades de salud. Como alternativa de tratamiento se implementó un sistema de deriva-ción internacional para que los pacientes hayan accedido al trasplante en centros calificados, con la modalidad del donante vivo relacionado. Se logró acreditar en el 2019 en la ciudad de Cuenca, el primer programa de trasplante infantil para generar un cambio importante en el sis-tema de atenciones, pero fue necesario dejar clara todas las normas y regulaciones que involu-cren la prioridad de éstos pacientes y los aspectos técnicos quirúrgicos que han implicado la uti-lización de éste tipo de procedimientos como: split, hígado reducido y donante vivo relacionado.

Ecuador did not have a child liver transplant program and was a problem for health authorities. As an alternative treatment, an international referral system was implemented so that the patients had access to the transplant in qualified centers, with the modality of the living donor related. It was possible to accredit in 2019 in the city of Cuenca, the first child transplant program to generate a major change in the care system, but it was necessary to make clear all the rules and regulations that involve the priority of these patients and the technical aspects Surgical that have involved the use of these types of procedures such as: split, reduced liver and related living donor.