Comparación multitemporal de imágenes de alta resolución para el monitoreo de estabilidad de taludes en el valle de Siguas – Arequipa.

La presente investigación titulada “Comparación multitemporal de imágenes de alta resolución para el monitoreo de estabilidad de taludes en el valle de Siguas – Arequipa” se desarrolló la zona llamada Alto Siguas, la cual se encuentra en el margen derecho del Valle de Siguas, entre los distritos de San Juan de Siguas y Majes en Arequipa, cuyo objetivo es monitorear la estabilidad de taludes mediante la comparación multitemporal de imágenes DTM, logrando detectar zonas en peligro. Para ello se utilizó imágenes aéreas de alta resolución con apoyo del dron marca Wingtra, modelo WingtraOne GEN II; estas imágenes son procesadas con algún software de procesamiento de vuelo de drones, logrando obtener modelos digitales de elevaciones (DEM), la obtención de las ortofotos y los perfiles longitudinales se puede contrastar numérica y gráficamente el material desplazado, con lo cual hallaremos la velocidad con la que se desliza el talud. La metodología aplicada a la presente tesis es deductiva y descriptiva, con orientación aplicada, de nivel descriptivo, con un diseño observacional y un enfoque cualitativo y prolectivo. Los estudios realizados concluyen que los deslizamientos tienen una velocidad promedio de 0.007 m/d, comprometiendo en un futuro la carretera Panamericana Sur y la planta de leche Gloria como se puede apreciar en el mapa de influencia del deslizamiento, añadiendo que todo el material deslizado va obstruyendo el cauce del río. Con la ayuda de las herramientas geomáticas se procesó la información geoespacial que nos ayudó a calcular la diferencia de cotas en los perfiles de cada sector cuantificando el material deslizado desde octubre del año 2020 hasta noviembre del año 2021, teniendo como sector con más material deslizado el sector 5 con 17.8 m de diferencia a una distancia de 200 m en el eje x

De Novo and Rare Inherited Copy-Number Variations in the Hemiplegic Form of Cerebral Palsy

PurposeHemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants. Here, we examined the prevalence and types of CNVs specifically in hemiplegic CP.MethodsWe genotyped 97 unrelated probands with hemiplegic CP and their parents. We compared their CNVs to those of 10,851 population controls, in order to identify rare CNVs

Functional impact of global rare copy number variation in autism spectrum disorders

The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviors1. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability (ID)2. While ASDs are known to be highly heritable (~90%)3, the underlying genetic determinants are still largely unknown. Here, we analyzed the genome-wide characteristics of rare (<1% frequency) copy number variation (CNV) in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic CNVs (1.19 fold, P= 0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P= 3.4×10−4). Among the CNVs, there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes like SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene-sets involved in cellular proliferation, projection and motility, and GTPase/Ras signaling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways

Physical condition and perceived fatigue in post-covid patients: An observational descriptive study

ABSTRACT BACKGROUND: Patients with severe coronavirus disease 2019 (COVID-19) often require hospital admission and experience sequelae such as chronic fatigue or low muscle mass. OBJECTIVE: To analyze the functional capacity of a cohort of patients with severe acute respiratory syndrome coronavirus 2 who required hospitalization. DESIGN AND SETTING: An observational descriptive study was conducted on post-COVID-19 patients referred to the Rehabilitation Department of Gregorio Marañón Hospital (Madrid, SPAIN). METHODS: Cardiorespiratory fitness, muscle strength, body composition, and perception of fatigue and dyspnea were analyzed. Furthermore, the existing correlations between clinical variables and physical conditions were analyzed. RESULTS: Forty-two patients who required hospital admission (80 ± 22.45 days) or intensive care unit (ICU) admission (58 ± 10.52 days) were analyzed. They presented with decreased strength, respiratory capacity, and moderate-to-severe perceived fatigue. Additionally, an inverse correlation was found between right-handgrip strength and days in the ICU, as well as the 6-minute walk test for women. Similarly, strength and fitness were negatively associated with perceived fatigue. CONCLUSIONS: Post-COVID-19 patients showed low muscle function and low levels of physical fitness associated with high perceived fatigue

The Centre for Modeling Human Disease Gene Trap resource

Gene trap mutagenesis of mouse embryonic stem cells generates random loss-of-function mutations, which can be identified by a sequence tag and can often report the endogenous expression of the mutated gene. The Centre for Modeling Human Disease is performing expression- and sequence-based screens of gene trap insertions to generate new mouse mutations as a resource for the scientific community. The gene trap insertions are screened using multiplexed in vitro differentiation and induction assays, and sequence tags are generated to complement expression profiles. Researchers may search for insertions in genes expressed in target cell lineages, under specific in vitro conditions, or based upon sequence identity via an online searchable database (http://www.cmhd.ca/sub/genetrap.asp). The clones are available as a resource to researchers worldwide to help to functionally annotate the mammalian genome and will serve as a source to test candidate loci identified by phenotype-driven mutagenesis screens

Functional impact of global rare copy number variation in autism spectrum disorders

The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability. Although ASDs are known to be highly heritable ( approximately 90%), the underlying genetic determinants are still largely unknown. Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P = 0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P = 3.4 x 10(-4)). Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signalling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways

A genome-wide scan for common alleles affecting risk for autism.

Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P &lt; 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P &lt; 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C