386 research outputs found
NeoNet Atlantic. Radiocarbon dates for the late Mesolithic/early Neolithic transition in the southern European Atlantic Coast
NeoNet Atlantic dataset complements the NeoNet Mediterranean dataset by providing new curated radiocarbon dates for the study of the pioneer farming front (i.e. Neolithisation, ca. 7500 to 3500 cal BC) in the Southern European Atlantic Coast river basin (Portugal, Western Spain, Southwestern France). The complete dataset is formed by the id00164_doc_elencoc14.tsv file, a data frame with tab-separated values, and a related dataframe: id00164_doc_thesaurus.tsv. The dataset contains 1,143 radiocarbon dates from 254 archaeological sites and 817 different archaeological contexts (stratigraphic units, structures, negative features, hearths, etc.) informed by 233 bibliographical references. As for the NeoNet Mediterranean dataset, particular attention has been paid to homogenisation of the laboratory code, the archaeological context, and the references, in order to facilitate further data extractions. Indeed, the dataset is linked to an open source R Shiny interactive web app (NeoNet app), a series of functions hosted on GitHub, and a getter function (R package c14bazAAr, R function get_c14data(“neonetatl”)
Comparative sem evaluation of three solvents used in endodontic retreatment: an ex vivo study
This study compared, by scanning electron microscopy (SEM), the efficacy of three solvents on the removal of filling materials from dentinal tubules during endodontic retreatment. Forty human maxillary canines with straight canals were prepared according to a crown-down technique and enlarged to a#30 apical file size, before obturation with gutta-percha and a zinc-oxide-eugenol based sealer. The samples were stored for 3 months before being randomly assigned to four groups: chloroform (n=10), orange oil (n=10), eucalyptol (n=10) and control (n=10). Solvents were applied to a reservoir created on the coronal root third using Gates Glidden drills. The total time for retreatment using the solvents was 5 minutes per tooth. Following retreatment the roots were split longitudinally for SEM evaluation. SEM images were digitized, analyzed using Image ProPlus 4.5 software, and the number of dentinal tubules free of filling material from the middle and apical thirds was recorded. No significant difference was found among the solvent groups regarding the number of dentinal tubules free of root filling remnants in the middle and apical root thirds (p>;0.05). However, the control group had fewer dentinal tubules free of filling material (
Equilibrium and stability properties of detonation waves in the hydrodynamic limit of a kinetic model
A shock wave structure problem, like the one which can be formulated for the planar detonation wave, is analyzed here for a binary mixture of ideal gases undergoing the symmetric reaction A1+A1=A2+A2 . The problem is studied at the hydrodynamic Euler limit of a kinetic model of the reactive Boltzmann equation. The chemical rate law is deduced in this frame with a second-order reaction rate, in a hemical regime such that the gas flow is not far away from the chemical equilibrium. The caloric and the thermal equations of state for the specific internal energy and temperature are employed to close
the system of balance laws. With respect to other approaches known in the kinetic literature for detonation problems with a reversible reaction, this paper aims to improve some aspects of the wave solution. Within the mathematical analysis of the detonation model, the equation of the equilibrium Hugoniot curve of the final states is explicitly derived for the first time and used to define the correct location of the equilibrium Chapman–Jouguet point in the Hugoniot diagram. The parametric space is widened to investigate the response of the detonation solution to the activation energy of the chemical reaction. Finally, the mathematical formulation of the linear stability problem is given for the wave detonation structure via a normal-mode approach, when bidimensional disturbances perturb the steady solution. The stability equations with their boundary conditions and the radiation condition of the considered model are explicitly derived for small transversal deviations of the shock wave location. The paper shows how a second-order chemical kinetics description, derived at the microscopic level, and an analytic deduction of the equilibrium Hugoniot curve, lead to an accurate picture of the steady detonation with reversible reaction, as well as to a proper bidimensional linear stability analysis.Brazilian Research Council (CNPq), by Italian Research Council GNFM-INdAM, and by the Research Centre of Mathematics of the University of Minho with the Portuguese Funds of FCT, project PEstOE/MAT/UI0013/2014
Creation of multiple nanodots by single ions
In the challenging search for tools that are able to modify surfaces on the
nanometer scale, heavy ions with energies of several 10 MeV are becoming more
and more attractive. In contrast to slow ions where nuclear stopping is
important and the energy is dissipated into a large volume in the crystal, in
the high energy regime the stopping is due to electronic excitations only.
Because of the extremely local (< 1 nm) energy deposition with densities of up
to 10E19 W/cm^2, nanoscaled hillocks can be created under normal incidence.
Usually, each nanodot is due to the impact of a single ion and the dots are
randomly distributed. We demonstrate that multiple periodically spaced dots
separated by a few 10 nanometers can be created by a single ion if the sample
is irradiated under grazing angles of incidence. By varying this angle the
number of dots can be controlled.Comment: 12 pages, 6 figure
NeoNet Atlantic. Radiocarbon Dates for the Late Mesolithic/Early Neolithic Transition in the Southern European Atlantic Coast
NeoNet Atlantic dataset complements the NeoNet Mediterranean dataset by providing new curated radiocarbon dates for the study of the pioneer farming front (i.e. Neolithisation, ca. 7500 to 3500 cal BC) in the Southern European Atlantic Coast river basin (Portugal, Western Spain, Southwestern France). The complete dataset is formed by the id00164_doc_elencoc14.tsv file, a data frame with tab-separated values, and a related dataframe: id00164_doc_thesaurus.tsv. The dataset contains 1,143 radiocarbon dates from 254 archaeological sites and 817 different archaeological contexts (stratigraphic units, structures, negative features, hearths, etc.) informed by 233 bibliographical references. As for the NeoNet Mediterranean dataset, particular attention has been paid to homogenisation of the laboratory code, the archaeological context, and the references, in order to facilitate further data extractions. Indeed, the dataset is linked to an open source R Shiny interactive web app (NeoNet app), a series of functions hosted on GitHub, and a getter function (R package c14bazAAr, R function get_c14data(“neonetatl”)
Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome
Funding Information: Funding: This work was supported by the Plan Andaluz de Investigación, Desarrollo e Innovación (PAIDI 2020) (ref. PY20_00212, P20_00583), and the Spanish Ministry of Economy and Competitiveness through the Spanish National Plan for Scientific and Technical Research and Innovation (ref. SAF2016–78722-R, PID2020–120157RB-I00) and the Proyectos I + D + i del Programa Operativo FEDER 2020 (ref. B-CTS-584-UGR20, B-CTS-260-UGR20). FDC was supported by the “Ramón y Cajal” program (ref. RYC-2014–16458), and LBC was supported by the Spanish Ministry of Economy and Competitiveness through the “Juan de la Cierva Incorporación” program (Grant ref. IJC2018– 038026-I, funded by MCIN/AEI/10.13039/501100011033), all of them including FEDER funds. AGJ was funded by MCIN/AEI/10.13039/501100011033 and FSE “El FSE invierte en tu futuro”(grant ref. FPU20/02926). SGM was funded by a previously mentioned project (ref. PY20_00212). IPATIMUP integrates the i3S Research Unit, which is partially supported by the Portuguese Foundation for Science and Technology (FCT), financed by the European Social Funds (COMPETE-FEDER) and National Funds (projects PEstC/SAU/LA0003/2013 and POCI-01–0145-FEDER-007274). AML is funded by the Portuguese Government through FCT (IF/01262/2014). PIM is supported by the FCT post-doctoral fellowship (SFRH/BPD/120777/2016), financed from the Portuguese State Budget of the Ministry for Science, Technology and High Education and from the European Social Fund, available through the Programa Operacional do Capital Humano. ToxOmics—Centre for Toxicogenomics and Human Health, Genetics, Oncology and Human Toxicology, Nova Medical School, Lisbon, is also partially supported by FCT (Projects: UID/BIM/00009/2013 and UIDB/UIDP/00009/2020). SLarriba received support from Instituto de Salud Carlos III (grant DTS18/00101], co-funded by FEDER funds/European Regional Development Fund (ERDF)—a way to build Europe), and from “Generalitat de Catalunya” (grant 2017SGR191). SLarriba is sponsored by the “Researchers Consolidation Program” from the SNS-Dpt. Salut Generalitat de Catalunya (Exp. CES09/020). This article is related to the Ph.D. Doctoral Thesis of Miriam Cerván-Martín (grant ref. BES-2017–081222 funded by MCIN/AEI/10.13039/501100011033 and FSE “El FSE invierte en tu futuro”). Publisher Copyright: © 2022 by the authors. Licensee MDPI, Basel, Switzerland.We aimed to analyze the role of the common genetic variants located in the PIN1 locus, a relevant prolyl isomerase required to control the proliferation of spermatogonial stem cells and the integrity of the blood–testis barrier, in the genetic risk of developing male infertility due to a severe spermatogenic failure (SPGF). Genotyping was performed using TaqMan genotyping assays for three PIN1 taggers (rs2287839, rs2233678 and rs62105751). The study cohort included 715 males diagnosed with SPGF and classified as suffering from non-obstructive azoospermia (NOA, n = 505) or severe oligospermia (SO, n = 210), and 1058 controls from the Iberian Peninsula. The allelic frequency differences between cases and controls were analyzed by the means of logistic regression models. A subtype specific genetic association with the subset of NOA patients classified as suffering from the Sertoli cell-only (SCO) syndrome was observed with the minor alleles showing strong risk effects for this subset (ORaddrs2287839 = 1.85 (1.17–2.93), ORaddrs2233678 = 1.62 (1.11–2.36), ORaddrs62105751 = 1.43 (1.06–1.93)). The causal variants were predicted to affect the binding of key transcription factors and to produce an altered PIN1 gene expression and isoform balance. In conclusion, common non-coding single-nucleotide polymorphisms located in PIN1 increase the genetic risk to develop SCO.publishersversionpublishe
Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome.
We aimed to analyze the role of the common genetic variants located in the PIN1 locus, a relevant prolyl isomerase required to control the proliferation of spermatogonial stem cells and the integrity of the blood–testis barrier, in the genetic risk of developing male infertility due to a severe spermatogenic failure (SPGF). Genotyping was performed using TaqMan genotyping assays for three PIN1 taggers (rs2287839, rs2233678 and rs62105751). The study cohort included 715 males diagnosed with SPGF and classified as suffering from non-obstructive azoospermia (NOA, n = 505) or severe oligospermia (SO, n = 210), and 1058 controls from the Iberian Peninsula. The allelic frequency differences between cases and controls were analyzed by the means of logistic regression models. A subtype specific genetic association with the subset of NOA patients classified as suffering from the Sertoli cell-only (SCO) syndrome was observed with the minor alleles showing strong risk effects for this subset (ORrs2287839 = 1.85 (1.17–2.93), ORrs2233678 = 1.62 (1.11–2.36), ORrs62105751 = 1.43 (1.06–1.93)). The causal variants were predicted to affect the binding of key transcription factors and to produce an altered PIN1 gene expression and isoform balance. In conclusion, common non-coding single-nucleotide polymorphisms located in PIN1 increase the genetic risk to develop SCO.This work was supported by the Plan Andaluz de Investigación, Desarrollo e Innovación (PAIDI 2020) (ref. PY20_00212, P20_00583), and the Spanish Ministry of Economy and Competitiveness through the Spanish National Plan for Scientific and Technical Research and Innovation (ref. SAF2016–78722-R, PID2020–120157RB-I00) and the Proyectos I + D + i del Programa Operativo FEDER 2020 (ref. B-CTS-584-UGR20, B-CTS-260-UGR20). FDC was supported by the “Ramón y Cajal” program (ref. RYC-2014–16458), and LBC was supported by the Spanish Ministry of Economy and Competitiveness through the “Juan de la Cierva Incorporación” program (Grant ref. IJC2018–038026-I, funded by MCIN/AEI/10.13039/501100011033), all of them including FEDER funds. AGJ was funded by MCIN/AEI/10.13039/501100011033 and FSE “El FSE invierte en tu futuro”(grant ref. FPU20/02926). SGM was funded by a previously mentioned project (ref. PY20_00212). IPATIMUP integrates the i3S Research Unit, which is partially supported by the Portuguese Foundation for Science and Technology (FCT), financed by the European Social Funds (COMPETE-FEDER) and National Funds (projects PEstC/SAU/LA0003/2013 and POCI-01–0145-FEDER-007274). AML is funded by the Portuguese Government through FCT (IF/01262/2014). PIM is supported by the FCT post-doctoral fellowship (SFRH/BPD/120777/2016), financed from the Portuguese State Budget of the Ministry for Science, Technology and High Education and from the European Social Fund, available through the Programa Operacional do Capital Humano. ToxOmics—Centre for Toxicogenomics and Human Health, Genetics, Oncology and Human Toxicology, Nova Medical School, Lisbon, is also partially supported by FCT (Projects: UID/BIM/00009/2013 and UIDB/UIDP/00009/2020). SLarriba received support from Instituto de Salud Carlos III (grant DTS18/00101], co-funded by FEDER funds/European Regional Development Fund (ERDF)—a way to build Europe), and from “Generalitat de Catalunya” (grant 2017SGR191). SLarriba is sponsored by the “Researchers Consolidation Program” from the SNS-Dpt. Salut Generalitat de Catalunya (Exp. CES09/020). This article is related to the Ph.D. Doctoral Thesis of Miriam Cerván-Martín (grant ref. BES-2017–081222 funded by MCIN/AEI/10.13039/501100011033 and FSE “El FSE invierte en tu futuro”)
Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia
Background: Severe spermatogenic failure (SPGF) represents one of the most relevant causes of male infertility. This pathological condition can lead to extreme abnormalities in the seminal sperm count, such as severe oligozoospermia (SO) or non-obstructive azoospermia (NOA). Most cases of SPGF have an unknown aetiology, and it is known that this idiopathic form of male infertility represents a complex condition. In this study, we aimed to evaluate whether common genetic variation in TEX15, which encodes a key player in spermatogenesis, is involved in the susceptibility to idiopathic SPGF.Materials and Methods: We designed a genetic association study comprising a total of 727 SPGF cases (including 527 NOA and 200 SO) and 1,058 unaffected men from the Iberian Peninsula. Following a tagging strategy, three tag single-nucleotide polymorphisms (SNPs) of TEX15 (rs1362912, rs323342, and rs323346) were selected for genotyping using TaqMan probes. Case-control association tests were then performed by logistic regression models. In silico analyses were also carried out to shed light into the putative functional implications of the studied variants.Results: A significant increase in TEX15-rs1362912 minor allele frequency (MAF) was observed in the group of SO patients (MAF = 0.0842) compared to either the control cohort (MAF = 0.0468, OR = 1.90, p = 7.47E-03) or the NOA group (MAF = 0.0472, OR = 1.83, p = 1.23E-02). The genotype distribution of the SO population was also different from those of both control (p = 1.14E-02) and NOA groups (p = 4.33-02). The analysis of functional annotations of the human genome suggested that the effect of the SO-associated TEX15 variants is likely exerted by alteration of the binding affinity of crucial transcription factors for spermatogenesis.Conclusion: Our results suggest that common variation in TEX15 is involved in the genetic predisposition to SO, thus supporting the notion of idiopathic SPGF as a complex trait
Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia
Lisbon clinical group co-authors and
IVIRMA group co-authors
Ana Aguiar, (Unidade de Medicina da Reproducao,
Hospital de Santa Maria, Centro Hospitalar Lisboa Norte,
Lisboa, Portugal); Carlos Calhaz-Jorge, (Unidade de Medicina
da Reproducao, Hospital de Santa Maria, Centro Hospitalar
Lisboa Norte, Lisboa, Portugal); Joaquim Nunes, (Unidade de
Medicina da Reproducao, Hospital de Santa Maria, Centro
Hospitalar Lisboa Norte, Lisboa, Portugal); Sandra Sousa
(Unidade de Medicina da Reproducao, Hospital de Santa
Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal),
and Sónia Correia (Centro de Medicina Reprodutiva,
Maternidade Alfredo da Costa, Centro Hospitalar Lisboa
Central, Lisboa, Portugal); Maria Graça Pinto(Centro de
Medicina Reprodutiva, Maternidade Alfredo da Costa,
Centro Hospitalar Lisboa Central, Lisboa, Portugal).
Alberto Pacheco, (IVIRMA Madrid, Spain); Cristina
González, (IVIRMA Sevilla, Spain); Susana Gómez,
(IVIRMA Lisboa, Portugal); David Amorós, (IVIRMA
Barcelona, Spain); Jesús Aguilar, (IVIRMA Vigo, Spain);
Fernando Quintana, (IVIRMA Bilbao, Spain).Background: Severe spermatogenic failure (SPGF) represents one of the most relevant causes of male infertility. This pathological condition can lead to extreme abnormalities in the seminal sperm count, such as severe oligozoospermia (SO) or non-obstructive azoospermia (NOA). Most cases of SPGF have an unknown aetiology, and it is known that this idiopathic form of male infertility represents a complex condition. In this study, we aimed to evaluate whether common genetic variation in TEX15, which encodes a key player in spermatogenesis, is involved in the susceptibility to idiopathic SPGF.
Materials and Methods: We designed a genetic association study comprising a total of 727 SPGF cases (including 527 NOA and 200 SO) and 1,058 unaffected men from the Iberian Peninsula. Following a tagging strategy, three tag single-nucleotide polymorphisms (SNPs) of TEX15 (rs1362912, rs323342, and rs323346) were selected for genotyping using TaqMan probes. Case-control association tests were then performed by logistic regression models. In silico analyses were also carried out to shed light into the putative functional implications of the studied variants.
Results: A significant increase in TEX15-rs1362912 minor allele frequency (MAF) was observed in the group of SO patients (MAF = 0.0842) compared to either the control cohort (MAF = 0.0468, OR = 1.90, p = 7.47E-03) or the NOA group (MAF = 0.0472, OR = 1.83, p = 1.23E-02). The genotype distribution of the SO population was also different from those of both control (p = 1.14E-02) and NOA groups (p = 4.33–02). The analysis of functional annotations of the human genome suggested that the effect of the SO-associated TEX15 variants is likely exerted by alteration of the binding affinity of crucial transcription factors for spermatogenesis.
Conclusion: Our results suggest that common variation in TEX15 is involved in the genetic predisposition to SO, thus supporting the notion of idiopathic SPGF as a complex trait.This work was supported by the Spanish Ministry of
Science and Innovation through the Spanish National Plan
for Scientific and Technical Research and Innovation (PID
2020-120157RB-I00) and the Andalusian Government
through the research projects of “Plan Andaluz de
Investigacion, Desarrollo e Innovacion (PAIDI 2020)” (ref.
PY20_00212) and “Programa Operativo FEDER 2020” (ref.
B-CTS-584-UGR20). LB-C was supported by the Spanish
Ministry of Science and Innovation through the “Juan de la
Cierva Incorporacion” program (Grant ref. IJC 2018-038026-
I, funded by MCIN/AEI/10.13039/501100011033), which
includes FEDER funds. AG-J was funded by MCIN/AEI/
10.13039/501100011033 and FSE “El FSE invierte en tu
futuro” (grant ref. FPU20/02926). IPATIMUP integrates
the i3S Research Unit, which is partially supported by the
Portuguese Foundation for Science and Technology (FCT),
financed by the European Social Funds (COMPETE-FEDER)
and National Funds (projects PEstC/SAU/LA0003/2013 and
POCI-01-0145-FEDER-007274). PM is supported by the FCT
post-doctoral fellowship (SFRH/BPD/120777/2016), financed
from the Portuguese State Budget of the Ministry for Science, Technology and High Education and from the European
Social Fund, available through the Programa Operacional
do Capital Humano. ToxOmics—Centre for
Toxicogenomics and Human Health, Genetics, Oncology
and Human Toxicology, Nova Medical School, Lisbon, is
also partially supported by FCT (UID/BIM/00009/2016 and
UIDB/00009/2020). SL received support from Instituto de
Salud Carlos III (grant: DTS18/00101], co-funded by
FEDER funds/European Regional Development Fund
(ERDF)-a way to build Europe-), and from “Generalitat de
Catalunya” (grant 2017SGR191). SL is sponsored by the
“Researchers Consolidation Program” from the SNS-Dpt.
Salut Generalitat de Catalunya (Exp. CES09/020). This
article is related to the Ph.D. Doctoral Thesis of AG-J.info:eu-repo/semantics/publishedVersio
Evaluation of male fertility-associated loci in a european population of patients with severe spermatogenic impairment
Funding: This work was supported by the Spanish Ministry of Economy and Competitiveness through the Spanish State Plan for Scientific and Technical Research and Innovation (ref. SAF2016-78722-R), the “Ramón y Cajal” program (ref. RYC-2014-16458), and the “Juan de la Cierva Incorporación” program (ref. IJC2018-038026-I), which include FEDER funds. SLa received support from the Spanish Ministry of Science and Innovation (grants FIS-ISCIII DTS18/00101, co-funded by FEDER funds/European Regional Development Fund (ERDF)-a way to build Europe-), and from Generalitat de Catalunya (grant 2017SGR191). AG-J was recipient of a grant from the “Plan Propio” program of the University of Granada (“Becas de Iniciación a la Investigación para estudiantes de Grado”, conv.2019). SLa is sponsored by the “Researchers Consolidation Program” from the SNS-Dpt. Salut Generalitat de Catalunya (Exp. CES09/020). JG was partially funded by FCT/MCTES, through national funds attributed to Center for Toxicogenomics and Human Health—ToxOmics (UIDB/00009/2020). PIM is supported by the FCT post-doctoral fellowship (SFRH/BPD/120777/2016), financed from the Portuguese State Budget of the Ministry for Science, Technology and High Education and from the European Social Fund, available through the Programa Operacional do Capital Humano. AML is funded by the Portuguese Government through FCT (IF/01262/2014). IPATIMUP integrates the i3S Research Unit, which is partially supported by FCT in the framework of the project “Institute for Research and Innovation in Health Sciences” (POCI-01-0145-FEDER-007274).Infertility is a growing concern in developed societies. Two extreme phenotypes of male infertility are non-obstructive azoospermia (NOA) and severe oligospermia (SO), which are characterized by severe spermatogenic failure (SpF). We designed a genetic association study comprising 725 Iberian infertile men as a consequence of SpF and 1058 unaffected controls to evaluate whether five single-nucleotide polymorphisms (SNPs), previously associated with reduced fertility in Hutterites, are also involved in the genetic susceptibility to idiopathic SpF and specific clinical entities. A significant difference in the allele frequencies of USP8-rs7174015 was observed under the recessive model between the NOA group and both the control group (p = 0.0226, OR = 1.33) and the SO group (p = 0.0048, OR = 1.78). Other genetic associations for EPSTI1-rs12870438 and PSAT1-rs7867029 with SO and between TUSC1-rs10966811 and testicular sperm extraction (TESE) success in the context of NOA were observed. In silico analysis of functional annotations demonstrated cis-eQTL effects of such SNPs likely due to the modification of binding motif sites for relevant transcription factors of the spermatogenic process. The findings reported here shed light on the molecular mechanisms leading to severe phenotypes of idiopathic male infertility, and may help to better understand the contribution of the common genetic variation to the development of these conditions.publishersversionpublishe
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