34 research outputs found
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 eV -- 1 keV, as predicted
by gauge-mediated supersymmetry (SUSY) breaking models. After evaluating the
number of degrees of freedom at the gravitinos decoupling (), 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-- 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 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-- 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 <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
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 < 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