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Background: Stroke is the third largest single cause of death in Chile, responsible for 7.3% of all deaths in 2019. Large declines in stroke mortality rates in most Latin American countries in recent decades have been reported. Aim: To analyze the trend in stroke mortality in Chile between 1980 and 2015. Material and Methods: We extracted data for age-standardized death rate (ASDR) stroke mortality per 100,000 inhabitants in Chile for the period 1980-2015from the WHO Mortality Database. Joinpoint regression analysis was used to analyze the trend and compute the average annual percent change (AAPC) by gender in Chile. Results: The ASDR from stroke decreased from 92.8 per 100,000 in 1980 to 34.4 per 100,000 in 2015. The AAPC was −2.8% (-3.5, −2.1), with two jointpoints, 2008 and 2012. By gender, the AAPC was −2.4% and −2.9% in men and women, respectively. Conclusions: Stroke mortality rate decreased significantly between 1980 and 2015 in Chile, mainly in women.

Resumen Introducción: La Hipertensión Intracraneal Idiopática (HICI) es un síndrome neurológico caracterizado por un aumento de la presión intracraneal en ausencia de lesión estructural o hidrocefalia. Los síntomas incluyen cefalea, tinnitus pulsátil, oscurecimientos visuales transitorios y pérdida visual. Dentro de los signos destacan diplopía por parálisis del VI par, edema de papila y disminución de la agudeza visual. Los pacientes no tienen compromiso de conciencia ni signos neurológicos focales. La principal complicación es la pérdida visual que puede ser irreversible. La asociación entre HICI y nitrofurantoína (NTF) se reportó en 1974. Caso clínico: Mujer de 42 años, con sobrepeso, que desarrolló una HICI aproximadamente 18 meses posterior al inicio de nitrofurantoína profiláctica. Consultó por cefalea frontal, opresiva que aumentaba con la maniobra de Valsalva, asociada a disminución fluctuante de la agudeza visual y episodios de oscurecimiento. Al examen destacó edema de papila bilateral, sin déficit neurológico focal. La presión del líquido cefalorraquídeo (LCR) fue de 25,5 cm de agua. La resonancia magnética mostró signos de aumento de la presión del LCR, sin lesiones estructurales ni hidrocefalia. El cuadro se recuperó concomitantemente a la suspensión de la NTF y el uso de topiramato. No se constató daño visual permanente. Conclusiones: Se debe sospechar la HICI en mujeres en edad fértil con sobrepeso. Dentro de los gatillantes del síndrome destacan varios fármacos, entre ellos la NTF. El principal objetivo del tratamiento de la HICI es preservar la función visual.

Background: Stroke is a time-dependent emergency. Most patients with acute ischemic stroke are excluded from reperfusion therapies due to late consultation. Aims: To estimate the arrival times of patients with stroke to the Emergency Room (ER) of a public hospital. To identify factors associated with early consultation. Material and Methods: A convenience sample, 583 patients aged 71 ± 13 years (55% males) consulting for stroke at an emergency room was analyzed in terms of delay between onset of symptoms and arrival to the ER, demographics and etiology of stroke. Results: The admission diagnoses were ischemic stroke in 76%, intracerebral hemorrhage in 12%, transient ischemic attack in 9% and subarachnoid hemorrhage in 3%. The median time of arrival was 8 hours and 11 minutes after the onset of symptoms. Nineteen percent of consultations for ischemic stroke occurred within 3 hours of symptom onset, and 38% within 6 hours. In the logistic regression analysis, having an address near the hospital and the severity of stroke were associated with early consultation with a combined odds ratio of 5.97 (95% confidence intervals 3.23-11.04). Conclusions: There were significant differences in the arrival times of patients with stroke. Only a low proportion of patients with ischemic stroke consulted within the window for reperfusion therapies. Severe strokes and living near the hospital were associated with early consultation.

Resumen Antecedentes: El ataque cerebrovascular (ACV) es una urgencia tiempo-dependiente. La mayoría de los pacientes con infarto cerebral quedan excluidos de las terapias de reperfusión por consultar tardíamente. Se desconocen los factores asociados a llegada y evaluación precoz de pacientes con ACV agudo en nuestra población. Objetivos: Identificar los factores asociados, llegada y evaluación precoz de pacientes con ACV agudo. Pacientes y Métodos: Muestra por conveniencia de las consultas por ACV realizadas en el Turno N° 1, del SU del Hospital Dr. Hernán Henríquez de Temuco, entre enero de 2016 y diciembre de 2017. El análisis estadístico se realizó con el software STATA 14.0. Resultados: Se registraron 584 consultas por ACV. La mediana del tiempo de llegada fue de 8 h y 11 min. La mediana del tiempo para la evaluación por neurólogo(a) fue de 66 min. Tener domicilio en Temuco-Padre Las Casas y una mayor severidad del ACV se asociaron a consultar precozmente con un OR = 5,97 (3,23-11,04). Para evaluación dentro de una hora, las variables severidad, llegada en ambulancia y consulta en menos de 3 h, fueron estadísticamente significativas, con un OR combinado de 10,86 (IC 95%: 5,15-22,94). Conclusiones: Los factores más fuertemente asociados a llegada y evaluación precoz incluyen residir en comunas cercanas al hospital y presentar síntomas más severos de ACV. Se sugiere implementar estrategias para aumentar el grado de reconocimiento de síntomas de ACV y para disminuir las barreras de acceso a hospitales que traten a este tipo pacientes.

De novo GRIN variants, encoding for the ionotropic glutamate NMDA receptor subunits, have been recently associated with GRIN-related disorders, a group of rare paediatric encephalopathies. Current investigational and clinical efforts are focused to functionally stratify GRIN variants, towards precision therapies of this primary disturbance of glutamatergic transmission that affects neuronal function and brain. In the present study, we aimed to comprehensively delineate the functional outcomes and clinical phenotypes of GRIN protein truncating variants (PTVs)-accounting for ~20% of disease-associated GRIN variants-hypothetically provoking NMDAR hypofunctionality. To tackle this question, we created a comprehensive GRIN PTVs variants database compiling a cohort of nine individuals harbouring GRIN PTVs, together with previously identified variants, to build-up an extensive GRIN PTVs repertoire composed of 293 unique variants. Genotype-phenotype correlation studies were conducted, followed by cell-based assays of selected paradigmatic GRIN PTVs and their functional annotation. Genetic and clinical phenotypes meta-analysis revealed that heterozygous GRIN1, GRIN2C, GRIN2D, GRIN3A and GRIN3B PTVs are non-pathogenic. In contrast, heterozygous GRIN2A and GRIN2B PTVs are associated with specific neurological clinical phenotypes in a subunit- and domain-dependent manner. Mechanistically, cell-based assays showed that paradigmatic pathogenic GRIN2A and GRIN2B PTVs result on a decrease of NMDAR surface expression and NMDAR-mediated currents, ultimately leading to NMDAR functional haploinsufficiency. Overall, these findings contribute to delineate GRIN PTVs genotype-phenotype association and GRIN variants stratification. Functional studies showed that GRIN2A and GRIN2B pathogenic PTVs trigger NMDAR hypofunctionality, and thus accelerate therapeutic decisions for this neurodevelopmental condition.

Stroke is the third largest single cause of death in Chile, responsible for 7.3% of all deaths in 2019. Large declines in stroke mortality rates in most Latin American countries in recent decades have been reported.To analyze the trend in stroke mortality in Chile between 1980 and 2015.We extracted data for age-standardized death rate (ASDR) stroke mortality per 100,000 inhabitants in Chile for the period 1980-2015from the WHO Mortality Database. Joinpoint regression analysis was used to analyze the trend and compute the average annual percent change (AAPC) by gender in Chile.The ASDR from stroke decreased from 92.8 per 100,000 in 1980 to 34.4 per 100,000 in 2015. The AAPC was -2.8% (-3.5, -2.1), with two jointpoints, 2008 and 2012. By gender, the AAPC was -2.4% and -2.9% in men and women, respectively.Stroke mortality rate decreased significantly between 1980 and 2015 in Chile, mainly in women.

Resumen: Introducción: Las cardiopatías congénitas (CC), la malformación congénita más frecuente, han experimentado un aumento de sobrevida y crecimiento exponencial de la población de adolescentes y adultos portado res de CC. Para el éxito a largo plazo urgen intervenciones que optimicen la transición de cuidados de salud desde los servicios pediátricos a los de adulto. Objetivo: Describir el conocimiento y manejo de la enfermedad, autoeficacia y calidad de vida en adolescentes y jóvenes con CC en periodo de transfe rencia en dos hospitales en Santiago de Chile. Pacientes y Método: Estudio no experimental, descrip tivo, de corte transversal. Se aplicó: a) Encuesta de datos sociodemográficos, conocimiento y manejo de su enfermedad y uso de servicios de salud; b) Escala Con-Qol de Calidad de Vida Relacionada con Salud (CVRS) en pacientes con CC y c) Escala de Autoeficacia Generalizada (EAG). Resultados: Se obtuvo una muestra de 51 pacientes, 53% hombres, edad promedio de 17 ± 2,49 años. El 22% de las CC fue de complejidad simple, 29% moderada y 49% alta. Presentaron alta autoeficacia y buenos niveles de calidad de vida, sin embargo, mostraron escaso conocimiento y manejo de su enfermedad cardiaca. Conclusiones: Destaca la poca preparación para lograr una transición exitosa a servicios de adultos y jóvenes portadores de CC, siendo fundamental implementar programas de transición centrados en educación, autocuidado y automanejo de la enfermedad. Abstract: Introduction: Congenital heart defects (CHD), the most frequent congenital malformations, have shown an in creased survival and exponential growth of the adolescent and adult population living with CHD. Interventions that optimize the transition of patients from pediatric to adult health care services are essential for ensuring positive long-term outcomes. Objective: To describe the knowledge and management of this disease, self-efficacy, and quality of life of young people with CHD during the transition period in two hospitals in Santiago, Chile. Patients and Method: Non-experimental, des criptive, cross-sectional study. Patients completed: a) a survey of socio-demographic data, knowledge and management of their condition, and use of health services; b) the Health-Related Quality of Life (Con-HRQoL) Scale in patients with CHD; and c) the Generalized Self-Efficacy (GSE) Scale. Re sults: We obtained a sample of 51 patients, 53% of them were men, and the mean age was 17 ± 2.49 years. The complexity of the CHD was mild in 22%, moderate in 29%, and high in 49%. Although patients reported high self-efficacy and good levels of quality of life, there was a lack of knowledge and self-management of their heart disease. Conclusions: The study showed that adolescents and young people with CHD are not prepared to achieve a successful transition to adult health care services, and there is a need for the implementation of transition programs focused on education, self-care, and self-management of the disease.

This paper compares and quantifies the energy, environmental and economic benefits of various control strategies for recovering heat from a supermarket’s CO2 booster refrigeration system. There covered heat is used for space heating, with the goal of displacing natural gas fueled boilers. A theoretical model with thermal storage is presentedbased on a previous validated model from an existing refrigeration system in a food-retail building located in the UK. Sixheat recovery strategies are analysed by modifying thermal storage volumes and pressure levels in the gas-cooler/condenser. The model shows that a reduction of 30-40% in natural-gasc onsumption is feasible by the installation of a de-superheater and without any advanced operating strategy, and 40-50% by using a thermal storage tank. However, the CO2 system can fully supply the entire space-heating requirement by adopting alternative control strategies, albeit by penalising the coefficient of performance (COP) of the compressor. Results show that the best energy strategy can reduce total consumption by 35%, while the best economic strategy can reduce costs by 11%. Findings from this work suggest that heat recovery systems can bring substantial benefits to improve the overall efficiency of energy-intensive buildings,although trade-offs need to be carefully considered and further analysed before embarking on such initiatives.

Echeveria subrigida is native to Mexico and its methanol extract (ME) shows relevant biological activities for human health, including the α-glucosidase inhibitory (αGI) activity that suggests its antidiabetic potential. Fractionation of the ME based on the αGI activity (IC50 in µg/mL) showed that quercetin-3-O-β-glucoside (131.1), isorhamnetin-3-O-β-glucoside (166.4), and dimers to heptamers proanthocyanidins (9.6) were among the main responsible of αGI activity in the ME. The purified compounds showed better activity than acarbose (IC50 = 4426 µg/mL).

Background: Stroke is a time-dependent emergency. Most patients with acute ischemic stroke are excluded from reperfusion therapies due to late consultation. Aims: To estimate the arrival times of patients with stroke to the Emergency Room (ER) of a public hospital. To identify factors associated with early consultation. Material and Methods: A convenience sample, 583 patients aged 71 ± 13 years (55% males) consulting for stroke at an emergency room was analyzed in terms of delay between onset of symptoms and arrival to the ER, demographics and etiology of stroke. Results: The admission diagnoses were ischemic stroke in 76%, intracerebral hemorrhage in 12%, transient ischemic attack in 9% and subarachnoid hemorrhage in 3%. The median time of arrival was 8 hours and 11 minutes after the onset of symptoms. Nineteen percent of consultations for ischemic stroke occurred within 3 hours of symptom onset, and 38% within 6 hours. In the logistic regression analysis, having an address near the hospital and the severity of stroke were associated with early consultation with a combined odds ratio of 5.97 (95% confidence intervals 3.23-11.04). Conclusions: There were significant differences in the arrival times of patients with stroke. Only a low proportion of patients with ischemic stroke consulted within the window for reperfusion therapies. Severe strokes and living near the hospital were associated with early consultation.