Variation in optineurin (OPTN) allele frequencies between and within populations

PURPOSE: To evaluate the extent to which mutations in the optineurin (OPTN) glaucoma gene play a role in glaucoma in different populations. METHODS: Case-controlled study of OPTN sequence variants in individuals with or without glaucoma in populations of different ancestral origins and evaluate previous OPTN reports. We analyzed 314 subjects with African, Asian, Caucasian and Hispanic ancestries included 229 cases of primary open-angle glaucoma, 51 cases of juvenile-onset open-angle glaucoma, 33 cases of normal tension glaucoma, and 371 controls. Polymerase chain reaction-amplified OPTN coding exons were resequenced and case frequencies were compared to frequencies in controls matched for ancestry. RESULTS: The E50K sequence variant was identified in one individual from Chile with normal tension glaucoma, and the 691_692insAG variant was found in one Ashkenazi Jewish individual from Russia. The R545Q variant was found in two Asian individuals with primary open-angle glaucoma; one of Filipino ancestry and one of Korean ancestry. In addition to presenting OPTN allele frequencies for Caucasian and Asian populations that have been the subject of previous reports, we also present information for populations of Hispanic and black African ancestries. CONCLUSIONS: Our study contributes additional evidence to support the previously reported association of the OPTN E50K mutation with glaucoma. After finding an additional 691_692insAG OPTN variant, we can still only conclude that this variant is rare. Combined analysis of our data with data from more than a dozen other studies indicates no association of R545Q with glaucoma in most populations. Those same studies disagree in their conclusions regarding the role of M98K in glaucoma. Our analysis of the combined data provides statistically significant evidence of association of M98K with normal tension glaucoma in Asian populations, but not in Caucasian populations; however, the validity of this conclusion is questionable because of large differences in allele frequencies between and within populations. It is currently not possible to tell how much of the underlying cause of the allele frequency difference is attributable to demographic, technical, or ascertainment differences among the studies

Recomendaciones para la atención kinésica respiratoria en el contexto de paciente sospechoso y confirmado para Covid-19 en las unidades de Hospitalización Domiciliaria

PorpuseGiven the health crisis that the country and the world are currently experiencing, this document was prepared by the autonomous initiative of kinesiologists from twelve Hospital at Home units of public hospitals in Chile, in order to unify criteria based on their experiences and the available scientific evidence in order to carry out safe respiratory physiotherapy care in patients with suspected or confirmed COVID-19. In addition, this document is intended to be a guide for those who need to protocolize and / or standardize their care at Hospital at home, and can be adapted according to the need and availability of resources and infrastructure of each unit. It is important to note that this document may vary depending on the evolution of this pandemic and the updating of scientific evidence.ScopeThis document is designed to be applied in the home of adult and pediatric patients admitted to Hospital at Home Units (UHD) with suspected SARS-CoV-2 infection or with a positive result for COVID-19PropósitoAnte la crisis sanitaria que vive el país y el mundo actualmente, se confeccionó este documento por la iniciativa autónoma de kinesiólogos de doce unidades de Hospitalización Domiciliaria (HD) de hospitales públicos de Chile, con el fin de unificar criterios en base a sus experiencias y la evidencia científica disponible para poder realizar una atención kinésica respiratoria segura en pacientes con sospecha o confirmados para COVID-19. Además, este documento tiene el objetivo de ser una guía para quienes tengan la necesidad de protocolizar y/o estandarizar su atención en HD, pudiendo ser adaptado según la necesidad y disponibilidad de recursos e infraestructura de cada unidad. Es importante señalar, que este documento puede variar según la evolución de esta pandemia y la actualización de la evidencia científica.Campo de aplicaciónEste documento está diseñado para ser aplicado en el domicilio de los pacientes adultos y pediátricos ingresados a las Unidades de Hospitalización Domiciliaria (UHD) con sospecha de infección por SARS-CoV-2 o con resultado positivo para COVID-19

Evacetrapib and Cardiovascular Outcomes in High-Risk Vascular Disease

BACKGROUND: The cholesteryl ester transfer protein inhibitor evacetrapib substantially raises the high-density lipoprotein (HDL) cholesterol level, reduces the low-density lipoprotein (LDL) cholesterol level, and enhances cellular cholesterol efflux capacity. We sought to determine the effect of evacetrapib on major adverse cardiovascular outcomes in patients with high-risk vascular disease. METHODS: In a multicenter, randomized, double-blind, placebo-controlled phase 3 trial, we enrolled 12,092 patients who had at least one of the following conditions: an acute coronary syndrome within the previous 30 to 365 days, cerebrovascular atherosclerotic disease, peripheral vascular arterial disease, or diabetes mellitus with coronary artery disease. Patients were randomly assigned to receive either evacetrapib at a dose of 130 mg or matching placebo, administered daily, in addition to standard medical therapy. The primary efficacy end point was the first occurrence of any component of the composite of death from cardiovascular causes, myocardial infarction, stroke, coronary revascularization, or hospitalization for unstable angina. RESULTS: At 3 months, a 31.1% decrease in the mean LDL cholesterol level was observed with evacetrapib versus a 6.0% increase with placebo, and a 133.2% increase in the mean HDL cholesterol level was seen with evacetrapib versus a 1.6% increase with placebo. After 1363 of the planned 1670 primary end-point events had occurred, the data and safety monitoring board recommended that the trial be terminated early because of a lack of efficacy. After a median of 26 months of evacetrapib or placebo, a primary end-point event occurred in 12.9% of the patients in the evacetrapib group and in 12.8% of those in the placebo group (hazard ratio, 1.01; 95% confidence interval, 0.91 to 1.11; P=0.91). CONCLUSIONS: Although the cholesteryl ester transfer protein inhibitor evacetrapib had favorable effects on established lipid biomarkers, treatment with evacetrapib did not result in a lower rate of cardiovascular events than placebo among patients with high-risk vascular disease. (Funded by Eli Lilly; ACCELERATE ClinicalTrials.gov number, NCT01687998 .)

Estudio poblacional y genético de la tortuga Chelonia mydas agassizii (Sauria: Cheloniidae) en la Playa Chinchorro, Arica, Chile

Observations on Chelonia mydas agassizii have been carried out on a monthly basis for the last 2 years along the Chinchorro beach in Arica (northern Chile), with the aim of monitoring and describing genetic and population parameters in this group of turtles. Eighteen Ch. mydas agassizii individuals were captured and marked from December 2011, to July 2013. These individuals had long carapace of 47 to 75.7 cm, of which 11 were identified as females and the rest were of undetermined sex (individuals of smaller sizes). We were only able to recapture one of such individuals 6 months later in the same feeding area. Sequencing of the mtDNA Control Region showed 4 haplotypes: 3 that had never been described before and one observed in several regions of the Pacific (Japan, Mexico and Ecuador). This information suggests that Ch. mydas agassizii may stay in the same feeding zone for months. Nevertheless, the genetic information did not indicate any association between the individuals captured from the Chinchorro Beach and a nesting area in the Pacific

Population and genetic study of the turtle chelonia mydas agassizii (Sauria: Cheloniidae) in Chinchorro Beach, Arica, Chile Estudio poblacional y genético de la tortuga chelonia mydas agassizii (Sauria: Cheloniidae) en la Playa Chinchorro, Arica, Chile

© 2014 Universidad de Valparaiso. All rights reserved. Observations on Chelonia mydas agassizii have been carried out on a monthly basis for the last 2 years along the Chinchorro beach in Arica (northern Chile), with the aim of monitoring and describing genetic and population parameters in this group of turtles. Eighteen Ch. mydas agassizii individuals were captured and marked from December 2011, to July 2013. These individuals had long carapace of 47 to 75.7 cm, of which 11 were identified as females and the rest were of undetermined sex (individuals of smaller sizes). We were only able to recapture one of such individuals 6 months later in the same feeding area. Sequencing of the mtDNA Control Region showed 4 haplotypes: 3 that had never been described before and one observed in several regions of the Pacific (Japan, Mexico and Ecuador). This information suggests that Ch. mydas agassizii may stay in the same feeding zone for months. Nevertheless, the genetic information did not indi

Application of microbe-induced carbonate precipitation for copper removal from copper-enriched waters: Challenges to future industrial application

Copper contamination in watercourses is a recent issue in countries where mining operations are prevalent. In this study, the application of copper precipitation through microbe-induced carbonate precipitation (MICP) was analyzed using urea hydrolysis by bacteria to evaluate precipitated copper carbonates. This article demonstrates the application of a copper precipitation assay involving Sporosarcina pasteurii (in 0.5 mM Cu2+ and 333 mM urea) and analyzes the resultant low removal (10%). The analysis indicates that the low removal was a consequence of Cu2+ complexation with the ammonia resulting from the hydrolysis of urea. However, the results indicate that there should be a positive correlation between the initial urea concentration and the bacterial tolerance to copper. This identifies a challenge in the industrial application of the process, wherein a minimum consumption of urea represents an economic advantage. Therefore, it is necessary to design a sequential process that decouples bacterial growth and copper precipitation, thereby decreasing the urea requirement