Characterization of a large sex determination region in Salix purpurea L. (Salicaceae).

Dioecy has evolved numerous times in plants, but heteromorphic sex chromosomes are apparently rare. Sex determination has been studied in multiple Salix and Populus (Salicaceae) species, and P. trichocarpa has an XY sex determination system on chromosome 19, while S. suchowensis and S. viminalis have a ZW system on chromosome 15. Here we use whole genome sequencing coupled with quantitative trait locus mapping and a genome-wide association study to characterize the genomic composition of the non-recombining portion of the sex determination region. We demonstrate that Salix purpurea also has a ZW system on chromosome 15. The sex determination region has reduced recombination, high structural polymorphism, an abundance of transposable elements, and contains genes that are involved in sex expression in other plants. We also show that chromosome 19 contains sex-associated markers in this S. purpurea assembly, along with other autosomes. This raises the intriguing possibility of a translocation of the sex determination region within the Salicaceae lineage, suggesting a common evolutionary origin of the Populus and Salix sex determination loci

Pathological and Structural Assessment of a Residential Building in Lota, Chile

The urban development of Lota city (Chile) was strongly influenced by the coal-mining industry during 19th and 20th century. Virtually, the entire city was built, initially, by Matias Cousiño’s Coal Company and, later, by the National Coal Company of Chile (ENACAR). At the beginning of the 21st century, the city began to experience a decline because of the closure of coal mines. This situation affected not only the economy and employment of the city, but also the maintenance of its infrastructure and the conservation of historical buildings. The “Anibal Pinto Building” is a 5 stories reinforced concrete and masonry structure, built in 1966. Besides of an aggressive coastal environment and poor maintenance, this building has experienced one major earthquake (Mw 8.8 in 2010). As a consequence, cracks, concrete spalding and reinforcement corrosion is observed in several structural elements. To evaluate the current state of the building and determine it remaining operation life, a structural assessment procedure was implemented based on field explorations, laboratory analysis and numerical modeling. Field explorations considered tests to identify carbonation, humidity, porosity, concrete hardness. While, laboratory analysis included compression test of concrete cores extracted from the building. These investigations were developed with the aim of determine the mechanical properties of buildings materials and for identifying pathologies that affects reinforced concrete. The experimental data was used to elaborate a finite element model in SAP 2000 to estimate building performance compared to the current seismic regulation in Chile

Optimización de la hemoglobina preoperatoria en cirugía ortopédica mayor utilizando hierro intravenoso con o sin eritropoyetina. Estudio epidemiológico

Objetivo: Evaluar la efectividad del tratamiento con hierro intravenoso, solo o asociado a eritropoyetina (rHuEPO), mediante el incremento de hemoglobina (Hb). Como objetivo secundario se analizó la relación del incremento de Hb con los parámetros utilizados para evaluar la anemia. Material y método: Estudio observacional retrospectivo realizado en 2 centros entre enero de 2005 y diciembre de 2009. Se incluyeron pacientes sometidos a cirugía ortopédica electiva con déficit de hierro y que fueron tratados con hierro sacarosa intravenosos solo o asociado a rHuEPO. Se analizó la efectividad del tratamiento mediante la diferencia entre la Hb basal y la Hb previa a la cirugía y se valoró la relación entre los parámetros hematimétricos y del metabolismo del hierro con la efectividad del tratamiento. Resultados: Se incluyeron 412 pacientes que recibieron una mediana de 800mg de hierro sacarosa. A 125 pacientes (30,4%) se les asoció 2,4 viales de rHuEPO. El incremento de Hb fue de 0,8 (1,1) g/dL en los pacientes tratados con hierro intravenoso y de 1,5 (1,3) g/dL en los que se asoció rHuEPO (p<0,01). El incremento de Hb en los pacientes tratados con hierro se correlacionó con el porcentaje de hematíes hipocromos (r=0,52) y el valor del receptor soluble de la transferrina (r=0,59). Conclusiones: La efectividad del tratamiento con hierro sacarosa en pacientes con déficit de hierro para la optimización de la Hb preoperatoria fue moderada, siendo mayor con la administración adyuvante de eritropoyetina. La determinación de los parámetros funcionales del estado del hierro nos podría guiar para mejorar la efectividad del tratamiento

Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1

Seqüenciació de gens; Genòmica; Imatges per ressonància magnèticaSecuenciación de genes; Genómica; Imágenes por resonancia magnéticaGene sequencing; Genomics; Magnetic resonance imagingChiari Malformation Type 1 (CM-1) is characterized by herniation of the cerebellar tonsils below the foramen magnum and the presence of headaches and other neurologic symptoms. Cranial bone constriction is suspected to be the most common biologic mechanism leading to CM-1. However, other mechanisms may also contribute, particularly in the presence of connective tissue disorders (CTDs), such as Ehlers Danlos Syndrome (EDS). Accumulating data suggest CM-1 with connective tissue disorders (CTD+) may have a different patho-mechanism and different genetic risk factors than CM-1 without CTDs (CTD-). To identify CM-1 genetic risk variants, we performed whole exome sequencing on a single large, multiplex family from Spain and targeted sequencing on a cohort of 186 unrelated adult, Caucasian females with CM-1. Targeted sequencing captured the coding regions of 21 CM-1 and EDS candidate genes, including two genes identified in the Spanish family. Using gene burden analysis, we compared the frequency of rare, functional variants detected in CM-1 cases versus publically available ethnically-matched controls from gnomAD. A secondary analysis compared the presence of rare variants in these genes between CTD+ and CTD- CM-1 cases. In the Spanish family, rare variants co-segregated with CM-1 in COL6A5, ADGRB3 and DST. A variant in COL7A1 was present in affected and unaffected family members. In the targeted sequencing analysis, rare variants in six genes (COL7A1, COL5A2, COL6A5, COL1A2, VEGFB, FLT1) were significantly more frequent in CM-1 cases compared to public controls. In total, 47% of CM-1 cases presented with rare variants in at least one of the four significant collagen genes and 10% of cases harbored variants in multiple significant collagen genes. Moreover, 26% of CM-1 cases presented with rare variants in the COL6A5 gene. We also identified two genes (COL7A1, COL3A1) for which the burden of rare variants differed significantly between CTD+ and CTD- CM-1 cases. A higher percentage of CTD+ patients had variants in COL7A1 compared to CTD+ patients, while CTD+ patients had fewer rare variants in COL3A1 than did CTD- patients. In summary, rare variants in several collagen genes are particularly frequent in CM-1 cases and those in COL6A5 co-segregated with CM-1 in a Spanish multiplex family. COL6A5 has been previously associated with musculoskeletal phenotypes, but this is the first association with CM-1. Our findings underscore the contribution of rare genetic variants in collagen genes to CM-1, and suggest that CM-1 in the presence and absence of CTD symptoms is driven by different genes.This work was supported by a grant from Conquer Chiari to AAK. Collection of the Chiari1000 study participants utilized in this study was supported by a grant from Conquer Chiari to FL at University of Akron. Collection of the Duke study participants utilized in this study was supported by a grant from the National Institutes of Health (NS063273). A.U. was the recipient of a Postdoctoral Fellowship from Fundación Ramón Areces (Spain). RL is the Executive Director of Conquer Chiari which provided some of the funding for this work. For the manuscript, he assisted with revising and editing the manuscript. The funders did have a role in study design, but had no role in data collection and analysis, decision to publish, or preparation of the manuscript

Guía de práctica clínica para la elección del fluido de restauración volémica perioperatoria en los pacientes adultos intervenidos de cirugía no cardiaca

Esta Guía de Práctica Clínica responde a preguntas clínicas sobre seguridad en la elección de fluido (cristaloide, coloide o Hidroxietilalmidón 130) en pacientes que precisan restauración volémica en el periodo perioperatorio de cirugía no cardiaca. A partir del resumen de la evidencia, se elaboraron las recomendaciones siguiendo la metodología GRADE. En esta población se sugiere la fluidoterapia basada en la administración de cristaloides, (recomendación débil, calidad de la evidencia baja). En las situaciones en las que la restauración volémica no se alcance sólo con cristaloides, se sugiere utilizar coloides sintéticos (Hidroxietilalmidón 130 o gelatina fluida modificada) en lugar de Albúmina 5% (recomendación débil, calidad de la evidencia baja). La elección y dosificación de coloide deberán basarse en las características del producto, comorbilidad del paciente y experiencia del anestesiólogo

Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates.

Current evidence from case/control studies indicates that genetic risk for psychiatric disorders derives primarily from numerous common variants, each with a small phenotypic impact. The literature describing apparent segregation of bipolar disorder (BP) in numerous multigenerational pedigrees suggests that, in such families, large-effect inherited variants might play a greater role. To identify roles of rare and common variants on BP, we conducted genetic analyses in 26 Colombia and Costa Rica pedigrees ascertained for bipolar disorder 1 (BP1), the most severe and heritable form of BP. In these pedigrees, we performed microarray SNP genotyping of 838 individuals and high-coverage whole-genome sequencing of 449 individuals. We compared polygenic risk scores (PRS), estimated using the latest BP1 genome-wide association study (GWAS) summary statistics, between BP1 individuals and related controls. We also evaluated whether BP1 individuals had a higher burden of rare deleterious single-nucleotide variants (SNVs) and rare copy number variants (CNVs) in a set of genes related to BP1. We found that compared with unaffected relatives, BP1 individuals had higher PRS estimated from BP1 GWAS statistics (P = 0.001 ~ 0.007) and displayed modest increase in burdens of rare deleterious SNVs (P = 0.047) and rare CNVs (P = 0.002 ~ 0.033) in genes related to BP1. We did not observe rare variants segregating in the pedigrees. These results suggest that small-to-moderate effect rare and common variants are more likely to contribute to BP1 risk in these extended pedigrees than a few large-effect rare variants