Fast neutron mutagenesis in soybean enriches for small indels and creates frameshift mutations.

The mutagenic effects of ionizing radiation have been used for decades to create novel variants in experimental populations. Fast neutron (FN) bombardment as a mutagen has been especially widespread in plants, with extensive reports describing the induction of large structural variants, i.e., deletions, insertions, inversions, and translocations. However, the full spectrum of FN-induced mutations is poorly understood. We contrast small insertions and deletions (indels) observed in 27 soybean lines subject to FN irradiation with the standing indels identified in 107 diverse soybean lines. We use the same populations to contrast the nature and context (bases flanking a nucleotide change) of single-nucleotide variants. The accumulation of new single-nucleotide changes in FN lines is marginally higher than expected based on spontaneous mutation. In FN-treated lines and in standing variation, C→T transitions and the corresponding reverse complement G→A transitions are the most abundant and occur most frequently in a CpG local context. These data indicate that most SNPs identified in FN lines are likely derived from spontaneous de novo processes in generations following mutagenesis rather than from the FN irradiation mutagen. However, small indels in FN lines differ from standing variants. Short insertions, from 1 to 6 bp, are less abundant than in standing variation. Short deletions are more abundant and prone to induce frameshift mutations that should disrupt the structure and function of encoded proteins. These findings indicate that FN irradiation generates numerous small indels, increasing the abundance of loss-of-function mutations that impact single genes.

Nuevo caso de hemangioma capilar intradural extramedular / New case of intradural extramedullary capillary haemangioma

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[Clinical and epidemiological characteristics of HIV infection in Latin-American immigrants: comparative analysis from clinical records in a clinical care centre in Santiago in the last decade]. / Características clínicas y epidemiológicas de la infección por VIH en inmigrantes latinoamericanos versus chilenos: estudio comparativo en un centro de atención de Santiago a partir de registros de 2003-2013.

BACKGROUND: There has been an increasing number of immigrants to Chile in the last years, especially from South American countries. The phenomenon of immigration and its consequences has been studied by international literature, and different health care needs have been reported for this group as compared with local population. In Chile this phenomenon is poorly studied and HIV prevention campaigns are focused on national population needs. OBJECTIVE: To determine baseline clinical and epidemiological characteristics of the HIV infection in Latin-American immigrants presenting to a referral HIV clinical care centre between the years 2003-2013. METHODS: Retrospective analysis. Baseline characteristics of Latin-American immigrants at admission to the infectious disease unit were compared to a peered group of Chileans in the same unit. RESULTS: There was an increase in the number of immigrants trough out the observation period. Foreigners presented larger proportion of women (26% vs. 9%) and heterosexual conduct as compared to nationals (37% vs 22%). The majority of immigrants came from Peru (55%) and Colombia (12%). CONCLUSIONS: There were significant differences in regards to gender and sexual behavior. This brings up the need to address different prevention strategies with more emphasis in women and heterosexual population in this vulnerable group.

Características clínicas y epidemiológicas de la infección por VIH en inmigrantes latinoamericanos versus chilenos: estudio comparativo en un centro de atención de Santiago a partir de registros de 2003-2013 / Clinical and epidemiological characteristics of HIV infection in Latin-American immigrants: Comparative analysis from clinical records in a clinical care centre in Santiago in the last decade

Background: There has been an increasing number of immigrants to Chile in the last years, especially from South American countries. The phenomenon of immigration and its consequences has been studied by international literature, and different health care needs have been reported for this group as compared with local population. In Chile this phenomenon is poorly studied and HIV prevention campaigns are focused on national population needs. Objective: To determine baseline clinical and epidemiological characteristics of the HIV infection in Latin-American immigrants presenting to a referral HIV clinical care centre between the years 2003-2013. Methods: Retrospective analysis. Baseline characteristics of Latin-American immigrants at admission to the infectious disease unit were compared to a peered group of Chileans in the same unit. Results: There was an increase in the number of immigrants trough out the observation period. Foreigners presented larger proportion of women (26% vs. 9%) and heterosexual conduct as compared to nationals (37% vs 22%). The majority of immigrants came from Peru (55%) and Colombia (12%). Conclusions: There were significant differences in regards to gender and sexual behavior. This brings up the need to address different prevention strategies with more emphasis in women and heterosexual population in this vulnerable group.

Introducción: Chile ha experimentado un aumento de inmigrantes, especialmente sudamericanos. La literatura médica internacional describe necesidades de atención diferenciadas entre migrantes y poblaciones autóctonas. En Chile se han mantenido estrategias de prevención de la infección por virus de inmunodeficiencia humana (VIH) únicamente basadas en necesidades de la población nacional. Objetivos: Describir las características clínicas y epidemiológicas de la infección por VIH en pacientes inmigrantes latinoamericanos atendidos en Fundación Arriarán en los últimos 10 años, comparados con población chilena. Métodos: Estudio retrospectivo. Comparación de características basales de población latinoamericana de nacionalidad distinta a la chilena y pacientes chilenos en la misma unidad. Resultados: Se observó un aumento gradual de casos en inmigrantes a lo largo del periodo. Las nacionalidades predominantes fueron peruana (55%) y colombiana (12%). Los extranjeros presentaron mayor proporción de mujeres (26 vs 9%) y de conducta heterosexual (37 vs 22%) que los nacidos en Chile. No hubo diferencias en la presentación clínica. Conclusiones: Hubo diferencias significativas en la distribución por género y conducta sexual de los pacientes extranjeros en comparación con los nacionales. Esto plantea la necesidad de adoptar estrategias de prevención con mayor énfasis en mujeres y población heterosexual en este subgrupo de pacientes vulnerables.

Apego y juego: Marcas epocales en la conformación de las funciones parentales / Attachment and play: Epochal marks in the conformation of parental functions

El presente trabajo aborda la hipótesis de que las actitudes de los adultos significativos con respecto al juego infantil se relacionan con las modalidades de apego de sus vínculos intersubjetivos primarios. A tal fin, se exploran los desarrollos teóricos del Conductismo, el Psicoanálisis y la Teoría de Bowlby sobre la temática. Asimismo se realiza un trabajo de campo en dos poblaciones de características sociodemográicas diversas empleando metodología mixta. Si bien ambas muestras presentan perfiles diferenciales, se constatan dificultades análogas para pensar y ejercer la función parental, así como también facilitadores similares para el desempeño de su rol. Los resultados obtenidos en el proyecto de investigación UBACyT posibilitan replantear y enriquecer el trabajo implementado en el marco del Programa de Extensión Universitaria "Juegotecas Barriales". De este modo, se espera favorecer el desarrollo de redes que brinden sostén en tiempos donde las condiciones socioculturales parecen fragilizar los lazos parentoiliales.(AU)

This paper approaches the hypothesis that the attitudes of significant adults in relation to childrens play are related to their attachment of primary intersubjective bonds. For this purpose, we explore the theoretical developments of Behaviorism, Psychoanalysis and Bowlbys theory on the subject. We have developed, as well, ield work in two populations of different sociodemographic characteristics using mixed methodology. Although both samples show differential proiles, we have found analogous dificulties in thinking and exercising the parental function, as well as similar facilitators to fulill their role. The results obtained in the research project UBACyT made it possible to rethink and enrich the work implemented under the University Extension Program "Neighborhood Toy Libraries." Thus, it is expected to favor the development of networks that provide support in times when sociocultural conditions seem to weaken the parent-child bonds.(AU)

Apego y juego: Marcas epocales en la conformación de las funciones parentales / Attachment and play: Epochal marks in the conformation of parental functions

El presente trabajo aborda la hipótesis de que las actitudes de los adultos significativos con respecto al juego infantil se relacionan con las modalidades de apego de sus vínculos intersubjetivos primarios. A tal fin, se exploran los desarrollos teóricos del Conductismo, el Psicoanálisis y la Teoría de Bowlby sobre la temática. Asimismo se realiza un trabajo de campo en dos poblaciones de características sociodemográicas diversas empleando metodología mixta. Si bien ambas muestras presentan perfiles diferenciales, se constatan dificultades análogas para pensar y ejercer la función parental, así como también facilitadores similares para el desempeño de su rol. Los resultados obtenidos en el proyecto de investigación UBACyT posibilitan replantear y enriquecer el trabajo implementado en el marco del Programa de Extensión Universitaria "Juegotecas Barriales". De este modo, se espera favorecer el desarrollo de redes que brinden sostén en tiempos donde las condiciones socioculturales parecen fragilizar los lazos parentoiliales.

This paper approaches the hypothesis that the attitudes of significant adults in relation to children's play are related to their attachment of primary intersubjective bonds. For this purpose, we explore the theoretical developments of Behaviorism, Psychoanalysis and Bowlby's theory on the subject. We have developed, as well, ield work in two populations of different sociodemographic characteristics using mixed methodology. Although both samples show differential proiles, we have found analogous dificulties in thinking and exercising the parental function, as well as similar facilitators to fulill their role. The results obtained in the research project UBACyT made it possible to rethink and enrich the work implemented under the University Extension Program "Neighborhood Toy Libraries." Thus, it is expected to favor the development of networks that provide support in times when sociocultural conditions seem to weaken the parent-child bonds.

Identification, characterization and genetic mapping of TLR1 loci in rainbow trout (Oncorhynchus mykiss).

Induction of innate immune pathways is critical for early anti-microbial defense but there is limited understanding of how teleosts recognize microbial molecules and activate these pathways. In mammals, Toll-like receptors (TLR) 1 and 2 form a heterodimer involved in recognizing peptidoglycans and lipoproteins of microbial origin. Herein, we identify and describe the rainbow trout (Oncorhynchus mykiss) TLR1 gene ortholog and its mRNA expression. Two TLR1 loci were identified from a rainbow trout bacterial artificial chromosome (BAC) library using DNA sequencing and genetic linkage analyses. Full length cDNA clone and direct sequencing of four BACs revealed an intact omTLR1 open reading frame (ORF) located on chromosome 14 and a second locus on chromosome 25 that contains a TLR1 pseudogene. The duplicated trout loci exhibit conserved synteny with other fish genomes that extends beyond the TLR1 gene sequences. The omTLR1 gene includes a single large coding exon similar to all other described TLR1 genes, but unlike other teleosts it also has a 5' UTR exon and intron preceding the large coding exon. The omTLR1 ORF is predicted to encode an 808 amino-acid protein with 69% similarity to the Fugu TLR1 and a conserved pattern of predicted leucine-rich repeats (LRR). Phylogenetic analysis grouped omTLR1 with other fish TLR1 genes on a separate branch from the avian TLR1 and mammalian TLR1, 6 and 10. omTLR1 expression levels in rainbow trout anterior kidney leukocytes were not affected by the human TLR2/6 and TLR2/1 agonists diacylated lipoprotein (Pam(2)CSK(4)) and triacylated lipoprotein (Pam(3)CSK(4)). However, due to the lack of TLR6 and 10 genes in teleost genomes and up-regulation of TLR1 mRNA in response to LPS and bacterial infection in other fish species we hypothesize an important role for omTLR1 in anti-microbial immunity. Therefore, the identification of a TLR2 ortholog in rainbow trout and the development of assays to measure ligand binding and downstream signaling are critical for future elucidation of omTLR1 functions.

Identification and expression profile of the ID gene family in the rainbow trout (Oncorhynchus mykiss).

ID proteins are negative regulators of basic helix-loop-helix transcription factors governing growth and development in mammals. However, little is known about the ID gene function and expression in fish. We report the identification and characterization of two new rainbow trout ID genes (ID1D and ID2B) and extend our expression analyses of two previously identified ID genes (ID1A and ID2A). Phylogenetic analyses indicate an evolutionary relationship between ID1A and ID1D and between ID1B and ID1C, suggesting a mechanism of divergence throughout salmonid evolution. To access the expression of these genes in adult and developing fish, we measured the relative transcript abundance of four ID1 and two ID2 genes by real-time PCR. ID1 transcripts were expressed in a variety of tissues and the ID1 paralogues showed similar patterns of expression, whereas the ID2 paralogues were differentially expressed. To access the role of the ID genes during embryonic development, gene expression was measured at early (day 0 and day 2), mid (day 9 and day 18) and late (day 30 and day 50) embryonic development. ID1A and ID1D expression remained unchanged throughout embryonic development, while ID1B and ID1C were lowest during early, highest at mid, and decreased during late embryonic development. The ID2 transcripts revealed the highest expression in unfertilized eggs and day 2 embryos, and remained low throughout the remainder of embryonic development. The sequence analyses and gene expression patterns implicate gene and genome duplication in rainbow trout ID gene evolution and suggest an extensive role for the IDs in rainbow trout growth and development.