The Formation of Cosmic Structures in a Light Gravitino Dominated Universe

We analyse the formation of cosmic structures in models where the dark matter is dominated by light gravitinos with mass of $100$ eV -- 1 keV, as predicted by gauge-mediated supersymmetry (SUSY) breaking models. After evaluating the number of degrees of freedom at the gravitinos decoupling ($g_*$), we compute the transfer function for matter fluctuations and show that gravitinos behave like warm dark matter (WDM) with free-streaming scale comparable to the galaxy mass scale. We consider different low-density variants of the WDM model, both with and without cosmological constant, and compare the predictions on the abundances of neutral hydrogen within high-redshift damped Ly--$\alpha$ systems and on the number density of local galaxy clusters with the corresponding observational constraints. We find that none of the models satisfies both constraints at the same time, unless a rather small $\Omega_0$ value (\mincir 0.4) and a rather large Hubble parameter (\magcir 0.9) is assumed. Furthermore, in a model with warm + hot dark matter, with hot component provided by massive neutrinos, the strong suppression of fluctuation on scales of \sim 1\hm precludes the formation of high-redshift objects, when the low--$z$ cluster abundance is required. We conclude that all different variants of a light gravitino DM dominated model show strong difficulties for what concerns cosmic structure formation. This gives a severe cosmological constraint on the gauge-mediated SUSY breaking scheme.Comment: 28 pages,Latex, submitted for publication to Phys.Rev.

Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol.

INTRODUCTION: Cerebral venous thrombosis (CVT) is a rare cerebrovascular condition accounting for <1% of all stroke cases and mainly affects young adults. Its genetic aetiology is not clearly elucidated. METHODS AND ANALYSIS: To better understand the genetic basis of CVT, we have established an international biobank of CVT cases, Biorepository to Establish the Aetiology of Sinovenous Thrombosis (BEAST) which aims to recruit highly phenotyped cases initially of European descent and later from other populations. To date we have recruited 745 CVT cases from 12 research centres. As an initial step, the consortium plans to undertake a genome-wide association analysis of CVT using the Illumina Infinium HumanCoreExome BeadChip to assess the association and impact of common and low-frequency genetic variants on CVT risk by using a case-control study design. Replication will be performed to confirm putative findings. Furthermore, we aim to identify interactions of genetic variants with several environmental and comorbidity factors which will likely contribute to improve the understanding of the biological mechanisms underlying this complex disease. ETHICS AND DISSEMINATION: BEAST meets all ethical standards set by local institutional review boards for each of the participating sites. The research outcomes will be published in international peer-reviewed open-access journals with high impact and visibility. The results will be presented at national and international meetings to highlight the contributions into improving the understanding of the mechanisms underlying this uncommon but important disease. This international DNA repository will become an important resource for investigators in the field of haematological and vascular disorders

Informes - II Reunión plenaria de mitad del proyecto "Fastos, simulacros y saberes en la América Virreinal"

Estos informes son resultado del proyecto «Fastos, simulacros y saberes en la América Virreinal» (PID2020-113841GB-I00), han participado: WP AGENCIA FEMENINA. Coordina Beatriz Ferrús. EQUIPO: Julia Lewandowska, Beatriz Colombi, Sarah Serrano y Sara Poot Herrera WP ESPACIO Y CARTOGRAFÍA SIMBÓLICA. Coordina Eva Valero. EQUIPO: María José Rodilla y Jorge Mojarro WP ALTERIDADES, IDENTIDAD Y DEVOCIONES. Coordina Alberto Baena. EQUIPO: Antonio Rubial, Elena Manchado y Alejandro Cañeque WP CULTURA MATERIAL Y VISUAL. Coordina Francisco Montes. EQUIPO: Andreia Martins, Roberto Junco y Renata Schneider WP FASTO Y SIMULACRO. Coordina Judith Farré Vidal Este DATASET está sujeto a una licencia CC BY-NC-ND 4.0Los informes que se presentan son resultado de las sesiones que conformaron la reunión plenaria de mitad del proyecto «Fastos, simulacros y saberes en la América Virreinal» (PID2020-113841GB-I00) celebrada en 2023 (https://www.archivocolonial.csic.es/nuestra-actividad/ii-reunion-plenaria-del-proyecto/) . Todos los miembros del proyecto se organizaron en grupos de trabajo (WP) para previamente trazar un estado de la cuestión de cada una de las líneas transversales del proyecto (ver infografía en los documentos). El coordinador de cada línea de investigación se encargó de recoger, elaborar y unificar la información de cada WP, que ahora presentamos como un conjunto de informes de trabajo.N

Coma in adult cerebral venous thrombosis:The BEAST study

Background and purpose: Coma is an independent predictor of poor clinical outcomes in cerebral venous thrombosis (CVT). We aimed to describe the association of age, sex, and radiological characteristics of adult coma patients with CVT. Methods: We used data from the international, multicentre prospective observational BEAST (Biorepository to Establish the Aetiology of Sinovenous Thrombosis) study. Only positively associated variables with coma with &lt;10% missing data in univariate analysis were considered for the multivariate logistic regression model. Results: Of the 596 adult patients with CVT (75.7% women), 53 (8.9%) patients suffered coma. Despite being a female-predominant disease, the prevalence of coma was higher among men than women (13.1% vs. 7.5%, p = 0.04). Transverse sinus thrombosis was least likely to be associated with coma (23.9% vs. 73.3%, p &lt; 0.001). The prevalence of superior sagittal sinus thrombosis was higher among men than women in the coma sample (73.6% vs. 37.5%, p = 0.01). Men were significantly older than women, with a median (interquartile range) age of 51 (38.5–60) versus 40 (33–47) years in the coma (p = 0.04) and 44.5 (34–58) versus 37 (29–48) years in the non-coma sample (p &lt; 0.001), respectively. Furthermore, an age-and superior sagittal sinus-adjusted multivariate logistic regression model found male sex (odds ratio = 1.8, 95% confidence interval [CI] = 1.0–3.4, p = 0.04 to be an independent predictor of coma in CVT, with an area under the receiver operating characteristic curve of 0.61 (95% CI = 0.52–0.68, p = 0.01). Conclusions: Although CVT is a female-predominant disease, men were older and nearly twice as likely to suffer from coma than women

Genome-Wide Association Study Identifies First Locus Associated with Susceptibility to Cerebral Venous Thrombosis

Objective Cerebral venous thrombosis (CVT) is an uncommon form of stroke affecting mostly young individuals. Although genetic factors are thought to play a role in this cerebrovascular condition, its genetic etiology is not well understood. Methods A genome-wide association study was performed to identify genetic variants influencing susceptibility to CVT. A 2-stage genome-wide study was undertaken in 882 Europeans diagnosed with CVT and 1,205 ethnicity-matched control subjects divided into discovery and independent replication datasets. Results In the overall case-control cohort, we identified highly significant associations with 37 single nucleotide polymorphisms (SNPs) within the 9q34.2 region. The strongest association was with rs8176645 (combined p = 9.15 x 10(-24); odds ratio [OR] = 2.01, 95% confidence interval [CI] = 1.76-2.31). The discovery set findings were validated across an independent European cohort. Genetic risk score for this 9q34.2 region increases CVT risk by a pooled estimate OR = 2.65 (95% CI = 2.21-3.20, p = 2.00 x 10(-16)). SNPs within this region were in strong linkage disequilibrium (LD) with coding regions of the ABO gene. The ABO blood group was determined using allele combination of SNPs rs8176746 and rs8176645. Blood groups A, B, or AB, were at 2.85 times (95% CI = 2.32-3.52, p = 2.00 x 10(-16)) increased risk of CVT compared with individuals with blood group O. Interpretation We present the first chromosomal region to robustly associate with a genetic susceptibility to CVT. This region more than doubles the likelihood of CVT, a risk greater than any previously identified thrombophilia genetic risk marker. That the identified variant is in strong LD with the coding region of the ABO gene with differences in blood group prevalence provides important new insights into the pathophysiology of CVT. ANN NEUROL 2021Peer reviewe

Structured reporting for fibrosing lung disease: a model shared by radiologist and pulmonologist

Objectives: To apply the Delphi exercise with iterative involvement of radiologists and pulmonologists with the aim of defining a structured reporting template for high-resolution computed tomography (HRCT) of patients with fibrosing lung disease (FLD). Methods: The writing committee selected the HRCT criteria\ue2\u80\u94the Delphi items\ue2\u80\u94for rating from both radiology panelists (RP) and pulmonology panelists (PP). The Delphi items were first rated by RPs as \ue2\u80\u9cessential\ue2\u80\u9d, \ue2\u80\u9coptional\ue2\u80\u9d, or \ue2\u80\u9cnot relevant\ue2\u80\u9d. The items rated \ue2\u80\u9cessential\ue2\u80\u9d by &lt; 80% of the RP were selected for the PP rating. The format of reporting was rated by both RP and PP. Results: A total of 42 RPs and 12 PPs participated to the survey. In both Delphi round 1 and 2, 10/27 (37.7%) items were rated \ue2\u80\u9cessential\ue2\u80\u9d by more than 80% of RP. The remaining 17/27 (63.3%) items were rated by the PP in round 3, with 2/17 items (11.7%) rated \ue2\u80\u9cessential\ue2\u80\u9d by the PP. PP proposed additional items for conclusion domain, which were rated by RPs in the fourth round. Poor consensus was observed for the format of reporting. Conclusions: This study provides a template for structured report of FLD that features essential items as agreed by expert thoracic radiologists and pulmonologists

Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium : a study protocol

Introduction: Cerebral venous thrombosis (CVT) is a rare cerebrovascular condition accounting for <1% of all stroke cases and mainly affects young adults. Its genetic aetiology is not clearly elucidated. Methods and analysis: To better understand the genetic basis of CVT, we have established an international biobank of CVT cases, Biorepository to Establish the Aetiology of Sinovenous Thrombosis (BEAST) which aims to recruit highly phenotyped cases initially of European descent and later from other populations. To date we have recruited 745 CVT cases from 12 research centres. As an initial step, the consortium plans to undertake a genome-wide association analysis of CVT using the Illumina Infinium HumanCoreExome BeadChip to assess the association and impact of common and low-frequency genetic variants on CVT risk by using a case-control study design. Replication will be performed to confirm putative findings. Furthermore, we aim to identify interactions of genetic variants with several environmental and comorbidity factors which will likely contribute to improve the understanding of the biological mechanisms underlying this complex disease. Ethics and dissemination: BEAST meets all ethical standards set by local institutional review boards for each of the participating sites. The research outcomes will be published in international peer-reviewed open-access journals with high impact and visibility. The results will be presented at national and international meetings to highlight the contributions into improving the understanding of the mechanisms underlying this uncommon but important disease. This international DNA repository will become an important resource for investigators in the field of haematological and vascular disorders.Peer reviewe

Coma in adult cerebral venous thrombosis: The BEAST study

Background and purpose: Coma is an independent predictor of poor clinical outcomes in cerebral venous thrombosis (CVT). We aimed to describe the association of age, sex, and radiological characteristics of adult coma patients with CVT. Methods: We used data from the international, multicentre prospective observational BEAST (Biorepository to Establish the Aetiology of Sinovenous Thrombosis) study. Only positively associated variables with coma with <10% missing data in univariate analysis were considered for the multivariate logistic regression model. Results: Of the 596 adult patients with CVT (75.7% women), 53 (8.9%) patients suffered coma. Despite being a female-predominant disease, the prevalence of coma was higher among men than women (13.1% vs. 7.5%, p = 0.04). Transverse sinus thrombosis was least likely to be associated with coma (23.9% vs. 73.3%, p < 0.001). The prevalence of superior sagittal sinus thrombosis was higher among men than women in the coma sample (73.6% vs. 37.5%, p = 0.01). Men were significantly older than women, with a median (interquartile range) age of 51 (38.5–60) versus 40 (33–47) years in the coma (p = 0.04) and 44.5 (34–58) versus 37 (29–48) years in the non-coma sample (p < 0.001), respectively. Furthermore, an age- and superior sagittal sinus-adjusted multivariate logistic regression model found male sex (odds ratio = 1.8, 95% confidence interval [CI] = 1.0–3.4, p = 0.04) to be an independent predictor of coma in CVT, with an area under the receiver operating characteristic curve of 0.61 (95% CI = 0.52–0.68, p = 0.01). Conclusions: Although CVT is a female-predominant disease, men were older and nearly twice as likely to suffer from coma than women

The role of integrative conjugative elements in evolution of the kiwifruit pathogen Pseudomonas syringae pv. actinidiae : a thesis submitted in partial fulfilment of the requirements for the degree of Doctor of Philosophy in Genetics at Massey University, Albany Campus, New Zealand

Horizontal gene transfer (HGT) is a major force driving evolution in prokaryotes. Among the different contributions to bacterial fitness, HGT underpins the evolution of pathogenicity and virulence in several bacterial pathogens. Pseudomonas syringae pv. actinidiae (Psa) first emerged as a pathogen of kiwifruit in Asia during the 1980’s. In 2008 an outbreak occurred in Italy that rapidly spread to major kiwifruit growing areas of the world. During its global journey the outbreak lineage independently acquired divergent Integrative and Conjugative Elements (ICEs), harbouring an identical set of cargo genes that are hypothesized to be involved in the plant-­‐pathogen interaction. Here I show that the three ICEs acquired by Psa belong to a diverse family of ICEs present only in plant-­‐associated Pseudomonas ssp. (the PsICEs). The evolution of PsICEs is characterized by extensive inter-­‐ICE recombination events that are frequent enough to mask evolutionary history, producing chimeras with variable patterns of similarity to each other, yet maintaining a syntenic backbone where cargo genes are integrated in conserved positions. Although there are different classes of PsICE cargo genes, one set was frequently recovered: those contained on a Tn6212 element. Tn6212 confers a selective benefit when Psa is grown on succinate, fumarate, or malate as the only carbon source, but no phenotype was detected in planta. Members of the PsICE family also confer copper resistance to Psa strains isolated in New Zealand. I analyzed a number of these and showed transfer in vitro and in planta. I also measured the fitness consequences of ICE carriage, captured the de novo formation of novel recombinant ICEs, and explored ICE host-­‐range. Together my work, which began with observations from genome sequences before moving to experimental studies in the laboratory, has provided new insights into the role that horizontal gene transfer plays in the evolution of virulence