PurposeAutosomal recessive non-syndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity with reported mutations in 58 different genes. This study was designed to detect deafness causing variants in a multiethnic cohort with ARNSD by using whole-exome sequencing (WES).MethodsAfter excluding mutations in the most common gene, GJB2, we performed WES in 160 multiplex families with ARNSD from Turkey, Iran, Mexico, Ecuador and Puerto Rico to screen for mutations in all known ARNSD genes.ResultsWe detected ARNSD-causing variants in 90 (56%) families, 54% of which had not been previously reported. Identified mutations were located in 31 known ARNSD genes. The most common genes with mutations were MYO15A (13%), MYO7A (11%), SLC26A4 (10%), TMPRSS3 (9%), TMC1 (8%), ILDR1 (6%) and CDH23 (4%). Nine mutations were detected in multiple families with shared haplotypes suggesting founder effects.ConclusionWe report on a large multiethnic cohort with ARNSD in which comprehensive analysis of all known ARNSD genes identifies causative DNA variants in 56% of the families. In the remaining families, WES allows us to search for causative variants in novel genes, thus improving our ability to explain the underlying etiology in more families.

BackgroundMutations in the POU3F4 gene cause X-linked deafness type 3 (DFN3), which is characterized by inner ear anomalies.MethodsThree Turkish, one Ecuadorian, and one Nigerian families were included based on either inner ear anomalies detected in probands or X-linked family histories. Exome sequencing and/or Sanger sequencing were performed in order to identify the causative DNA variants in these families.ResultsFour novel, c.707A>C (p.(Glu236Ala)), c.772delG (p.(Glu258ArgfsX30)), c.902C>T (p.(Pro301Leu)), c.987T>C (p.(Ile308Thr)), and one previously reported mutation c.346delG (p.(Ala116ProfsX26)) in POU3F4, were identified. All mutations identified are predicted to affect the POU-specific or POU homeo domains of the protein and co-segregated with deafness in all families.ConclusionsExpanding the spectrum of POU3F4 mutations in different populations along with their associated phenotypes provides better understanding of their clinical importance and will be helpful in clinical evaluation and counseling of the affected individuals.Electronic supplementary materialThe online version of this article (doi:10.1186/s12881-015-0149-2) contains supplementary material, which is available to authorized users.

Alzheimer's disease (AD) is the most common neurodegenerative disease. It has two main pathological hallmarks: amyloid plaques and neurofibrillary tangles. The APOE ε4 allele has been recognized as the strongest genetic risk factor for late-onset Alzheimer's disease (LOAD) in several populations worldwide, yet the risk varies by region and ethnicity. The aims of this study were to describe APOE allele and genotype frequencies and examine the relationship between the APOE ε4 allele and LOAD risk in an Ecuadorian Mestizo population. We carried out a case-control study comprising 56 individuals clinically diagnosed with probable AD (≥65 years of age) and 58 unrelated healthy control subjects (≥65 years of age). Genotyping was performed using the real-time PCR method. Our data showed that allelic and genotypic frequencies follow the trends observed in most worldwide populations. We also found a high-risk association between APOE ε4 allele carriers and LOAD (OR = 7.286; 95% CI = 2.824–18.799; p < 0.001). Therefore, we concluded that APOE ε4 must be considered an important genetic risk factor for LOAD in the Ecuadorian Mestizo population. Additionally, we suggest that in mixed populations the effects of admixture and ethnic identity should be differentiated when evaluating genetic contributions to Alzheimer's disease risk.

En el presente trabajo se analiza el retardo que sufre la señal GPS durante la transmisión a través del canal de propagación el mismo que es afectado por factores, características y condiciones de las capas de la atmosfera.  La troposfera debido a las componentes húmedas y secas produce el retardo hidrostático el cual representa aproximadamente el 90% del retardo total de la señal que depende directamente por la presión atmosférica y el retardo troposférico el que se ve influenciado por el vapor de agua y la temperatura. Para la estimación del retardo se opta por la muestra de los datos de los días con mayor y menor humedad y precipitación acumulada basado en el modelo de Saastamoinen comparando los resultados con los datos analizados extraídos de la estación EREC de la Red de Monitoreo Continuo GNSS de Ecuador (REGME) a traves del procesamiento de los datos con la herramienta RTKlib para valorar el impacto en la precisión de la solución final en el posicionamiento del receptor.

El avance de los satélites de observación de la tierra ha sido de gran utilidad para la realización de varios estudios importantes relacionados a áreas que relacionan el cambio global, ya que proporcionan información cartográfica del planeta y datos en tiempo real que ayuda a la visualización y monitoreo de desastres naturales. El Servicio de Gestión de Emergencias (EMS) del Satélite  Copernicus es un claro ejemplo de Satélites de Observación de la Tierra ofertando servicios e información geoespacial oportuna y precisa derivada de la detección de desastres por satélites y completada por fuentes de datos disponibles, un claro ejemplo de ello es la misión Copernicus Sentinel-2, la cual comprende de dos satélites de órbita polar colocados en la órbita del sol con una fase de 180° entre sí, este proyecto tiene la finalidad de mantener un monitoreo constante de los cambios de la superficie de la Tierra, así también enfoques como la gestión de emergencias, seguridad  y cambio climático. Con el objetivo de conocer su funcionamiento, se diseñó una simulación de un satélite de observación que proporcione una cobertura a países de América Latina tratando de acercarnos a la realidad en caso de implementarse alguna clase de estos satélites en un lugar específico de la zona sur del continente americano.