Platypnea-Orthodeoxia Syndrome in Two Previously Healthy Adults: A Case-based Review

We describe here the clinical manifestations of platypnea-orthodeoxia in two patients with interatrial shunting. In both cases, the patients were asymptomatic prior to developing additional cardiopulmonary issues that apparently enhanced right-to-left intracardiac shunting. The patients were both treated with percutaneously deployed occlusion devices, with excellent results. Symptoms and positional oxygen desaturation resolved after device placement in both cases. In addition, these patients remain symptom-free 30 months after device implantation

The accessible chromatin landscape of the human genome

DNaseI hypersensitive sites (DHSs) are markers of regulatory DNA and have underpinned the discovery of all classes of cis-regulatory elements including enhancers, promoters, insulators, silencers, and locus control regions. Here we present the first extensive map of human DHSs identified through genome-wide profiling in 125 diverse cell and tissue types. We identify ~2.9 million DHSs that encompass virtually all known experimentally-validated cis-regulatory sequences and expose a vast trove of novel elements, most with highly cell-selective regulation. Annotating these elements using ENCODE data reveals novel relationships between chromatin accessibility, transcription, DNA methylation, and regulatory factor occupancy patterns. We connect ~580,000 distal DHSs with their target promoters, revealing systematic pairing of different classes of distal DHSs and specific promoter types. Patterning of chromatin accessibility at many regulatory regions is choreographed with dozens to hundreds of co-activated elements, and the trans-cellular DNaseI sensitivity pattern at a given region can predict cell type-specific functional behaviors. The DHS landscape shows signatures of recent functional evolutionary constraint. However, the DHS compartment in pluripotent and immortalized cells exhibits higher mutation rates than that in highly differentiated cells, exposing an unexpected link between chromatin accessibility, proliferative potential and patterns of human variation

Genetic effects on gene expression across human tissues

Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified genetic effects, we characterize patterns of tissue specificity, compare local and distal effects, and evaluate the functional properties of the genetic effects. We also demonstrate that multi-tissue, multi-individual data can be used to identify genes and pathways affected by human disease-associated variation, enabling a mechanistic interpretation of gene regulation and the genetic basis of diseas

The accessible chromatin landscape of the human genome

DNaseI hypersensitive sites (DHSs) are markers of regulatory DNA and have underpinned the discovery of all classes of cis-regulatory elements including enhancers, promoters, insulators, silencers, and locus control regions. Here we present the first extensive map of human DHSs identified through genome-wide profiling in 125 diverse cell and tissue types. We identify ~2.9 million DHSs that encompass virtually all known experimentally-validated cis-regulatory sequences and expose a vast trove of novel elements, most with highly cell-selective regulation. Annotating these elements using ENCODE data reveals novel relationships between chromatin accessibility, transcription, DNA methylation, and regulatory factor occupancy patterns. We connect ~580,000 distal DHSs with their target promoters, revealing systematic pairing of different classes of distal DHSs and specific promoter types. Patterning of chromatin accessibility at many regulatory regions is choreographed with dozens to hundreds of co-activated elements, and the trans-cellular DNaseI sensitivity pattern at a given region can predict cell type-specific functional behaviors. The DHS landscape shows signatures of recent functional evolutionary constraint. However, the DHS compartment in pluripotent and immortalized cells exhibits higher mutation rates than that in highly differentiated cells, exposing an unexpected link between chromatin accessibility, proliferative potential and patterns of human variation

Genetic effects on gene expression across human tissues

Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified genetic effects, we characterize patterns of tissue specificity, compare local and distal effects, and evaluate the functional properties of the genetic effects. We also demonstrate that multi-tissue, multi-individual data can be used to identify genes and pathways affected by human disease-associated variation, enabling a mechanistic interpretation of gene regulation and the genetic basis of disease

Biblioteca da UFPR Litoral: apresentação

It's a presentation of UFPR Litoral library services, me for students and new users

Biblioteca da UFPR Litoral: apresentação

It's a presentation of UFPR Litoral library services, me for students and new users

La pudrición de la mazorca de maíz en el Salvador

5 p.En El Salvador se siembran aproximadamente 280,000 ha de maíz con una producción aproximada de 544,800 toneladas, de las cuales un alto grado se pierde tanto en el campo como en el almacenamiento por la pudrición de la mazorca. El objetivo de este trabajo fue revisar los proyectos de investigación realizados sobre la pudrición de la mazorca. En el área de fitopatología se evaluó la resistencia de materiales experimentales y comerciales de maíz, inoculados con Fusaríum moniliforme yDiplodia sp., encontrándose con menor severidad (Escala la 5) las cruzas simples LT-200x 615 = 1.58, LT-10XLT-20 = 1.68, 512 X 1560 = 1.68 el híbrido H-9 para Fusaríum y las cruzas simples 511 x 605 - D = 1.08, 615 x 607 - D = 1.45, 528 x 607 - C = 1.25 y la línea L 2649 = 1.58 para Dlplodia sp. En trabajos de post-cosecha (1991) se determinaron porcentajes de pérdidas por hongos de 0.29 a 1.31% y por insectos de 0.51 a 1.38% los principales hongos identificados fueron Diplodia sp. Fusaríum sp., Aspergillus sp. yPenisillíum