Percepción del uso de leche de cabra como parte del tratamiento a la alergia a la proteína de leche de vaca (APLV) en la región Metropolitana, Chile

La alergia a la proteína de leche de vaca (APLV) es una condición que afecta a un grupo de entre 2-3% de niños menores de tres años y que genera un gran impacto en la salud de los niños que la padecen, así como en los aspectos sociales y económicos de las familias afectadas, debido al alto costo de las formulas alimenticias que se emplean en el tratamiento de esta alergia alimentaria, por lo cual surge la necesidad de nuevas alternativas amplíen oferta existente. Debido a lo anterior, se realizó un estudio sobre la actitud, creencias y conocimientos de padres de familias con niños que sufren de APLV y de un grupo de informantes calificados, el nivel de satisfacción respecto de la actual oferta de productos alimenticios, y en particular, sobre su percepción frente al posible uso de leche cabra como parte del tratamiento de dicha patología. El estudio fue realizado mediante un enfoque exploratorio por medio de técnicas de investigación cualitativa, incluyendo sesiones de grupos focales y entrevistas a informantes calificados. A partir de los antecedentes recopilados, se puede concluir que existe una demanda insatisfecha por parte de las familias con niños que sufren de APLV, lo que se explicaría por la poca variedad y alto costo de los productos alimenticios en los esquemas terapéuticos, por lo que el uso de productos lácteos como apoyo a los esquemas de alimentación tendría una buena aceptabilidad por parte de padres, en la medida que dichos productos cuenten con información adecuada y contribuyan a disminuir los costos del tratamiento

Disposición al estudio, autoeficacia y atribuciones causales en estudiantes universitarios chilenos

The aim of this study is to analyze the relationship between (1) willingness to study strategies, (2) causal attributions (to effort, ability and external causes) and (3) student´s perception of self-efficacy about their ability to self-regulate their processes of willingness to study. Method: An instrument built by the researchers called Willingness to the Study Self-Regulation Questionnaire was applied to a non probabilistic convenience sample of 695 Chilean university students from 5 universities of the Province of Concepción. Outcomes: Strong correlations were found between selfefficacy for the willingness to study self-regulation and the willingness to study strategies (r=0.54 to r =0.55). the willingness to study strategies had positive and moderate correlations (r=0.38 to r=0.42) with causal attributions for success to effort, weak correlations (r=0.15 to r=0.28) with causal attributions for success to ability and to external factors, and negative weak to moderate correlations (r=-0.19 to r =-0.38) with causal attributions for failure to effort, ability, and external factors. Conclusions: Students with high levels of willingness to study strategies show positive beliefs about their own ability to self-regulate their processes of willingness to study, they make causal attributions for their success mainly to effort, and they attribute their academic failure less and less to ability and external factors.The aim of this study is to analyze the relationship between (1) willingness to study strategies, (2) causal attributions (to effort, ability and external causes) and (3) student´s perception of self-efficacy about their ability to self-regulate their processes of willingness to study. Method: An instrument built by the researchers called Willingness to the Study Self-Regulation Questionnaire was applied to a non probabilistic convenience sample of 695 Chilean university students from 5 universities of the Province of Concepción. Outcomes: Strong correlations were found between selfefficacy for the willingness to study self-regulation and the willingness to study strategies (r=0.54 to r =0.55). the willingness to study strategies had positive and moderate correlations (r=0.38 to r=0.42) with causal attributions for success to effort, weak correlations (r=0.15 to r=0.28) with causal attributions for success to ability and to external factors, and negative weak to moderate correlations (r=-0.19 to r =-0.38) with causal attributions for failure to effort, ability, and external factors. Conclusions: Students with high levels of willingness to study strategies show positive beliefs about their own ability to self-regulate their processes of willingness to study, they make causal attributions for their success mainly to effort, and they attribute their academic failure less and less to ability and external factors.El objetivo de este estudio es: analizar la relación entre (1) Las estrategias disposición al estudio, (2) atribuciones causales (al esfuerzo, capacidad y causas externas) y (3) la percepción de autoeficacia que tienen los estudiantes sobre su capacidad de autorregular sus procesos de disposición al estudio. Método: Se aplicó un instrumento construido por los investigadores denominado Cuestionario de Autorregulación de la Disposición al Estudio a una muestra no probabilística por conveniencia de 695 estudiantes universitarios chilenos de 5 universidades de la provincia de Concepción. Resultados: Se encontraron correlaciones fuertes entre la autoeficacia para la autorregulación de la disposición al estudio y las estrategias de disposición al estudio (r=0.54 a r=0.55). Las estrategias de disposición al estudio presentan correlaciones positivas y moderadas (r=0.38 a r= 0.42) con las atribuciones causales de éxito al esfuerzo, débiles (r=0.15 a r= 0.28) con las atribuciones causales de éxito a la habilidad como a las atribuciones causales de éxito a causas externas, y correlaciones negativas, de débiles a moderadas (r=-0.19 a  r= -0.38), con las atribuciones causales de fracaso al esfuerzo, a la habilidad y a causas externas. Conclusiones: Los estudiantes con altos niveles de estrategias de disposición al estudio presentan creencias positivas acerca de la propia capacidad para autorregular sus procesos de disposición al estudio, realizan atribuciones causales de sus éxitos principalmente al esfuerzo y disminuyen las explicaciones de fracasos académicos a su esfuerzo, su capacidad y a causas externas.

A genome-wide association study follow-up suggests a possible role for PPARG in systemic sclerosis susceptibility

Introduction: A recent genome-wide association study (GWAS) comprising a French cohort of systemic sclerosis (SSc) reported several non-HLA single-nucleotide polymorphisms (SNPs) showing a nominal association in the discovery phase. We aimed to identify previously overlooked susceptibility variants by using a follow-up strategy.<p></p> Methods: Sixty-six non-HLA SNPs showing a P value <10-4 in the discovery phase of the French SSc GWAS were analyzed in the first step of this study, performing a meta-analysis that combined data from the two published SSc GWASs. A total of 2,921 SSc patients and 6,963 healthy controls were included in this first phase. Two SNPs, PPARG rs310746 and CHRNA9 rs6832151, were selected for genotyping in the replication cohort (1,068 SSc patients and 6,762 healthy controls) based on the results of the first step. Genotyping was performed by using TaqMan SNP genotyping assays. Results: We observed nominal associations for both PPARG rs310746 (PMH = 1.90 × 10-6, OR, 1.28) and CHRNA9 rs6832151 (PMH = 4.30 × 10-6, OR, 1.17) genetic variants with SSc in the first step of our study. In the replication phase, we observed a trend of association for PPARG rs310746 (P value = 0.066; OR, 1.17). The combined overall Mantel-Haenszel meta-analysis of all the cohorts included in the present study revealed that PPARG rs310746 remained associated with SSc with a nominal non-genome-wide significant P value (PMH = 5.00 × 10-7; OR, 1.25). No evidence of association was observed for CHRNA9 rs6832151 either in the replication phase or in the overall pooled analysis.<p></p> Conclusion: Our results suggest a role of PPARG gene in the development of SSc

GWAS for Systemic Sclerosis Identifies Multiple Risk Loci and Highlights Fibrotic and Vasculopathy Pathways

Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26,679 individuals and identify 27 independent genome-wide associated signals, including 13 new risk loci. The novel associations nearly double the number of genome-wide hits reported for SSc thus far. We define 95% credible sets of less than 5 likely causal variants in 12 loci. Additionally, we identify specific SSc subtype-associated signals. Functional analysis of high-priority variants shows the potential function of SSc signals, with the identification of 43 robust target genes through HiChIP. Our results point towards molecular pathways potentially involved in vasculopathy and fibrosis, two main hallmarks in SSc, and highlight the spectrum of critical cell types for the disease. This work supports a better understanding of the genetic basis of SSc and provides directions for future functional experiments.Funding: This work was supported by Spanish Ministry of Economy and Competitiveness (grant ref. SAF2015-66761-P), Consejeria de Innovacion, Ciencia y Tecnologia, Junta de Andalucía (P12-BIO-1395), Ministerio de Educación, Cultura y Deporte through the program FPU, Juan de la Cierva fellowship (FJCI-2015-24028), Red de Investigación en Inflamación y Enfermadades Reumaticas (RIER) from Instituto de Salud Carlos III (RD16/0012/0013), and Scleroderma Research Foundation and NIH P50-HG007735 (to H.Y.C.). H.Y.C. is an Investigator of the Howard Hughes Medical Institute. PopGen 2.0 is supported by a grant from the German Ministry for Education and Research (01EY1103). M.D.M and S.A. are supported by grant DoD W81XWH-18-1-0423 and DoD W81XWH-16-1-0296, respectively

Phlebotomine sand fly survey in the focus of leishmaniasis in Madrid, Spain (2012-2014): seasonal dynamics, Leishmania infantum infection rates and blood meal preferences

BACKGROUND: An unusual increase of human leishmaniasis cases due to Leishmania infantum is occurring in an urban area of southwestern Madrid, Spain, since 2010. Entomological surveys have shown that Phlebotomus perniciosus is the only potential vector. Direct xenodiagnosis in hares (Lepus granatensis) and rabbits (Oryctolagus cuniculus) collected in the focus area proved that they can transmit parasites to colonized P. perniciosus. Isolates were characterized as L. infantum. The aim of the present work was to conduct a comprehensive study of sand flies in the outbreak area, with special emphasis on P. perniciosus. METHODS: Entomological surveys were done from June to October 2012-2014 in 4 stations located close to the affected area. Twenty sticky traps (ST) and two CDC light traps (LT) were monthly placed during two consecutive days in every station. LT were replaced every morning. Sand fly infection rates were determined by dissecting females collected with LT. Molecular procedures applied to study blood meal preferences and to detect L. infantum were performed for a better understanding of the epidemiology of the outbreak. RESULTS: A total of 45,127 specimens belonging to 4 sand fly species were collected: P. perniciosus (75.34%), Sergentomyia minuta (24.65%), Phlebotomus sergenti (0.005%) and Phlebotomus papatasi (0.005%). No Phlebotomus ariasi were captured. From 3203 P. perniciosus female dissected, 117 were infected with flagellates (3.7%). Furthermore, 13.31% and 7.78% of blood-fed and unfed female sand flies, respectively, were found infected with L. infantum by PCR. The highest rates of infected P. perniciosus were detected at the end of the transmission periods. Regarding to blood meal preferences, hares and rabbits were preferred, although human, cat and dog blood were also found. CONCLUSIONS: This entomological study highlights the exceptional nature of the Leishmania outbreak occurring in southwestern Madrid, Spain. It is confirmed that P. perniciosus is the only vector in the affected area, with high densities and infection rates. Rabbits and hares were the main blood meal sources of this species. These results reinforce the need for an extensive and permanent surveillance in this region, and others of similar characteristics, in order to control the vector and regulate the populations of wild reservoirs.This study was partially sponsored and funded by: Dirección General de Salud Pública, Consejería de Sanidad, Comunidad de Madrid; Colegio de Veterinarios de Madrid; Colegio de Biólogos de Madrid and EU grant FP7-261504 EDENext (http://www.edenext.eu).S

Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks : The GR@ACE project

Introduction: Large variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways. Methods: Genome Research at Fundacio ACE (GR@ACE) is a genome-wide study of dementia and its clinical endophenotypes, defined based on AD's clinical certainty and vascular burden. We assessed the impact of known AD loci across endophenotypes to generate loci categories. We incorporated gene coexpression data and conducted pathway analysis per category. Finally, to evaluate the effect of heterogeneity in genetic studies, GR@ACE series were meta-analyzed with additional genome-wide association study data sets. Results: We classified known AD loci into three categories, which might reflect the disease clinical heterogeneity. Vascular processes were only detected as a causal mechanism in probable AD. The meta-analysis strategy revealed the ANKRD31-rs4704171 and NDUFAF6-rs10098778 and confirmed SCIMP-rs7225151 and CD33-rs3865444. Discussion: The regulation of vasculature is a prominent causal component of probable AD. GR@ACE meta-analysis revealed novel AD genetic signals, strongly driven by the presence of clinical heterogeneity in the AD series