286 research outputs found
Neuromyelitis optica spectrum disorder in three generations of a Chinese family
© 2019 Neuromyelitis optica spectrum disorder is an inflammatory demyelinating disease that is largely sporadic. Familial disease has been reported in one or two generations, although its basis remains unknown. We report here three subjects meeting diagnostic criteria for NMOSD in one family: a father and son, and the maternal aunt of the father. Anticipation, of 27 years, was apparent in transmission from father to son. Aquaporin-4 antibodies were observed in the aunt but not the father and son, nor in other family members. A putative pathogenic mutation in the NECL2 gene was not found in this pedigree. This first report of NMOSD in three generations of one family underlines the heterogeneity of familial NMOSD
Association of SLC1A2 and SLC17A7 polymorphisms with major depressive disorder in a Thai population
© 2018B. Thaweethee et al., published by Sciendo. Major depressive disorder (MDD) is a common psychiatric disorder with high prevalence and high risk of suicide. Genetic variation of glutamate transporters may associate with MDD and suicide attempt. To evaluate polymorphisms of excitatory amino acid transporter 2 gene (SLC1A2; rs752949, rs1885343, rs4755404, and rs4354668) and vesicular glutamate transporter 1 gene (SLC17A7; rs1043558, rs2946848, and rs11669017) in patients with MDD with and without suicide attempt, and determine the association of these polymorphisms with age of onset and severity of MDD. DNA was extracted from blood taken from patients with MDD (n = 100; including nonsuicidal [n = 50] and suicidal [n = 50] subgroups) and controls (n = 100). Genotyping was conducted using TaqMan single-nucleotide polymorphism (SNP) genotyping. We found a significant difference in SLC17A7 rs2946848 genotype distribution between patients in the MDD and control groups (P = 0.016). Moreover, significant differences in SLC1A2 rs752949 (P = 0.022) and SLC17A7 rs2946848 (P = 0.026) genotype distributions were observed between patients in the nonsuicidal MDD and suicidal MDD groups. SLC1A2 rs1885343 A allele carriers showed significantly lower age of onset than GG genotype (P = 0.049). Furthermore, the severity of MDD indicated by the Hamilton Depression Rating Scale (HDRS) score of G allele carriers of SLC1A2 rs4755404 was significantly greater than the CC genotype (P = 0.013). Polymorphisms of SLC1A2 and SLC17A7 may contribute to the risk of MDD and/or suicide attempt. An association of an SLC1A2 polymorphism with the severity of MDD was apparent
Circulating microRNA changes in patients with impaired glucose regulation
© 2020 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group. We analysed if levels of four miRNAs would change after a lifestyle intervention involving dietary and exercises in prediabetes. MiRNAs previously shown to be associated with diabetes (Let-7a, Let-7e, miR-144 and miR-92a) were extracted from serum pre- and post-intervention. mRNA was extracted from fat-tissue for gene expression analyses. The intervention resulted in increased Let-7a and miR-92a. We found correlations between miRNAs and clinical variables (triglycerides, cholesterol, insulin, weight and BMI). We also found correlations between miRNAs and target genes, revealing a link between miR-92a and IGF system. A lifestyle intervention resulted in marked changes in miRNAs. The association of miRNAs with insulin and the IGF system (both receptors and binding proteins) may represent a mechanism of regulating IGFs metabolic actions
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Improved oil recovery in fluvial dominated reservoirs of Kansas--near-term. Annual report
Common oil field problems exist in fluvial dominated deltaic reservoirs in Kansas. The problems are poor waterflood sweep efficiency and lack of reservoir management. The poor waterflood sweep efficiency is due to (1) reservoir heterogeneity, (2) channeling of injected water through high permeability zones or fractures, and (3) clogging of injection wells due to solids in the injection water. In many instances the lack of reservoir management results from (1) poor data collection and organization, (2) little or no integrated analysis of existing data by geological and engineering personnel, (3) the presence of multiple operators within the field, and (4) not identifying optimum recovery techniques. Two demonstration sites operated by different independent oil operators are involved in this project. The Stewart Field is located in Finney County, Kansas and is operated by North American Resources Company. This field was in the latter stage of primary production at the beginning of this project and is currently being waterflooded as a result of this project. The Nelson Lease (an existing waterflood) is located in Allen County, Kansas, in the N.E. Savonburg Field and is operated by James E. Russell Petroleum, Inc. The objective is to increase recovery efficiency and economics in these type of reservoirs. The technologies being applied to increase waterflood sweep efficiency are (1) in situ permeability modification treatments, (2) infill drilling, (3) pattern changes, and (4) air flotation to improve water quality. The technologies being applied to improve reservoir management are (1) database development, (2) reservoir simulation, (3) transient testing, (4) database management and (5) integrated geological and engineering analysis. Results of these two field projects are discussed
Magnetic fields in cosmic particle acceleration sources
We review here some magnetic phenomena in astrophysical particle accelerators
associated with collisionless shocks in supernova remnants, radio galaxies and
clusters of galaxies. A specific feature is that the accelerated particles can
play an important role in magnetic field evolution in the objects. We discuss a
number of CR-driven, magnetic field amplification processes that are likely to
operate when diffusive shock acceleration (DSA) becomes efficient and
nonlinear. The turbulent magnetic fields produced by these processes determine
the maximum energies of accelerated particles and result in specific features
in the observed photon radiation of the sources. Equally important, magnetic
field amplification by the CR currents and pressure anisotropies may affect the
shocked gas temperatures and compression, both in the shock precursor and in
the downstream flow, if the shock is an efficient CR accelerator. Strong
fluctuations of the magnetic field on scales above the radiation formation
length in the shock vicinity result in intermittent structures observable in
synchrotron emission images. Resonant and non-resonant CR streaming
instabilities in the shock precursor can generate mesoscale magnetic fields
with scale-sizes comparable to supernova remnants and even superbubbles. This
opens the possibility that magnetic fields in the earliest galaxies were
produced by the first generation Population III supernova remnants and by
clustered supernovae in star forming regions.Comment: 30 pages, Space Science Review
Gene and environmental risk factors: interplay between CNR1 genetic variants cannabis use, childhood trauma and psychosis [abstract only]
Background: Cannabis use and childhood trauma have been proposed as environmental risk factors for psychosis and its known that gene-environment (G×E) interactions increase the risk of psychosis [1]. In particular, a recent finding suggests a link between genetic variants in the cannabinoid receptor type 1 (CNR1) gene, which encodes CB1 receptors and is expressed widely in the central and peripheral systems, and cannabis playing a role in the multifactorial pathogenesis of psychosis [2]. However, how the genetic variants interact with lifetime cannabis use and other environmental risk factors, such as childhood trauma, underlying psychosis remains challenging.
Objective: To investigate whether there are associations of gene and environmental factors with psychosis, as well as G×E interactions in the relationship between lifetime cannabis use, childhood trauma, and single nucleotide variants (SNVs) of CNR1 and psychosis in a Brazilian sample.
Methods: In a population-based case-control study nested in an incident study (STREAM, Brazil) [3], part of the WP2 EU-GEI consortium, 143 first-episode psychosis patients (FEPp) and 286 community-based controls of both sexes, aged between 16 and 64 years, were included over a period of three years. Thirteen SNVs of CNR1 gene (rs806380, rs806379, rs1049353, rs6454674, rs1535255, rs2023239, rs12720071, rs6928499, rs806374, rs7766029, rs806378, rs10485170, rs9450898), were genotyped from peripheral blood DNA using a custom Illumina HumanCoreExome-24 BeadChip genotyping arrays (GWAS Cardiff chip). Environmental adversities were evaluated using the Cannabis Experience and the Childhood Trauma Questionnaires. Data were analysed using a binary logistic regression model (Adj OR, 95% CI), including a binary outcome (community-based controls and FEPp), adjusted by sex, age, skin colour, years of education and tobacco smoking. Genotype frequencies were analysed under the dominant model (homozygous ancestral x heterozygous + homozygous variant). The significance level was set at α≤0.05.
Results: Lifetime cannabis use and childhood trauma increased the risk for psychosis (OR=3.7; 2.6-6.195% CI, p<0.001; OR=3.0; 1.9-4.7 95% CI, p<0.001, respectively). We also showed that the presence of CNR1 rs12720071-T-allele moderated the association between lifetime cannabis use and psychosis (OR=6.0; 2.0-17.5 95% CI; p=0.001). Moreover, the combination of CNR1 rs12720071-T-allele carriers with childhood trauma also suggests a change in the risk of psychosis (OR=3.6; 1.4-9.0 95% CI; p=0.006). No significant associations between the environmental factors and other SNVs were found.
Conclusions: We demonstrated a significant interaction between CNR1 rs12720071 SNV and two important environmental risk factors in their association with psychosis. T allele carriers of CNR1 rs12720071 had a higher risk of psychosis when lifetime cannabis use or childhood trauma were present. Our results suggest a G×E interaction involving the CNR1 gene, trauma and cannabis in psychosis. We will explore the associations between genetic and epigenetic markers of the CNR1 gene with environmental factors in larger and longer follow-up cohorts to better understand the mechanisms of endocannabinoid system dysfunction in the etiology of psychosis
Effect of D2R, NMDAR and CB1R genetic variants associated with cannabis use and childhood trauma in first-episode psychosis in a Brazilian population [abstract only]
Introduction
Gene-environment interactions increase psychosis risk (Gayer-Anderson et al. Soc Psychiatry Psychiatr Epidemiol 2020; 55(5):645-657). However, identifying the genetic variants involved and how they interact with environmental risk factors underlying psychosis remains challenging.
Objectives
To investigate whether there are gene-environment interactions in the relationships of childhood trauma, lifetime cannabis use, and single nucleotide variants (SNVs) of dopamine D2 receptor (D2R: DRD2), N-methyl-d-aspartate receptor (NMDAR: GRIN1, GRIN2A and GRIN2B) and cannabinoid receptor type 1 (CB1R: CNR1) with psychosis.
Methods
In a population-based case-control study nested in an incident study (STREAM, Brazil) (Del-Ben et al. Br J of Psychiatry 2019; 215(6):726-729), part of the EU-GEI consortium (Gayer-Anderson et al. Soc Psychiatry Psychiatr Epidemiol 2020; 55(5):645-657), 143 first-episode psychosis patients and 286 community-based controls of both sexes aged between 16 and 64 years were included over a period of 3 years. Twenty-three SNVs of D2R (rs1799978, rs7131056, rs6275), NMDAR (GRIN1: rs4880213, rs11146020; GRIN2A: rs1420040, rs11866328; GRIN2B: rs890, rs2098469, rs7298664), and CB1R genes (CNR1: rs806380, rs806379, rs1049353, rs6454674, rs1535255, rs2023239, rs12720071, rs6928499, rs806374, rs7766029, rs806378, rs10485170, rs9450898), were genotyped from peripheral blood DNA using a custom Illumina HumanCoreExome-24 BeadChip. Environmental adversities were evaluated using the Cannabis Experience Questionnaire (Di Forti et al. The Lancet Psychiatry 2009; 6(5):427–436) and the Childhood Trauma Questionnaire (Grassi-Oliveira et al. Rev Saude Publica 2006; 40(2):249-55). Associations between SNVs and environmental risk factors were performed using the nonparametric multifactor dimensionality reduction software (version 3.0.2).
Results
Single locus analysis showed no association among the 23 SNVs with psychosis; however, gene-environment analysis was significant for the polymorphic loci rs12720071 and rs7766029 in CNR1. The best association models were the two-factor representing by the combination of CNR1 rs12720071 with lifetime cannabis use (p<0.001), and CNR1 rs12720071 with childhood trauma (p<0.05), both suggesting an increased risk of psychosis. Additionally, when considering the interaction of both environmental factors in the same model, we found CNR1 rs7766029 to be associated with psychosis (p<0.001).
Conclusions
Our study supports the hypothesis of gene-environment interactions for psychosis involving the T allele carriers of CNR1 SNVs (rs12720071 and rs7766029), childhood trauma and lifetime cannabis use in psychosis
Magnetic Field Generation in Stars
Enormous progress has been made on observing stellar magnetism in stars from
the main sequence through to compact objects. Recent data have thrown into
sharper relief the vexed question of the origin of stellar magnetic fields,
which remains one of the main unanswered questions in astrophysics. In this
chapter we review recent work in this area of research. In particular, we look
at the fossil field hypothesis which links magnetism in compact stars to
magnetism in main sequence and pre-main sequence stars and we consider why its
feasibility has now been questioned particularly in the context of highly
magnetic white dwarfs. We also review the fossil versus dynamo debate in the
context of neutron stars and the roles played by key physical processes such as
buoyancy, helicity, and superfluid turbulence,in the generation and stability
of neutron star fields.
Independent information on the internal magnetic field of neutron stars will
come from future gravitational wave detections. Thus we maybe at the dawn of a
new era of exciting discoveries in compact star magnetism driven by the opening
of a new, non-electromagnetic observational window.
We also review recent advances in the theory and computation of
magnetohydrodynamic turbulence as it applies to stellar magnetism and dynamo
theory. These advances offer insight into the action of stellar dynamos as well
as processes whichcontrol the diffusive magnetic flux transport in stars.Comment: 41 pages, 7 figures. Invited review chapter on on magnetic field
generation in stars to appear in Space Science Reviews, Springe
The Relation Between the Surface Brightness and the Diameter for Galactic Supernova Remnants
In this work, we have constructed a relation between the surface brightness
() and diameter (D) of Galactic C- and S-type supernova remnants
(SNRs). In order to calibrate the -D dependence, we have carefully
examined some intrinsic (e.g. explosion energy) and extrinsic (e.g. density of
the ambient medium) properties of the remnants and, taking into account also
the distance values given in the literature, we have adopted distances for some
of the SNRs which have relatively more reliable distance values. These
calibrator SNRs are all C- and S-type SNRs, i.e. F-type SNRs (and S-type SNR
Cas A which has an exceptionally high surface brightness) are excluded. The
Sigma-D relation has 2 slopes with a turning point at D=36.5 pc: (at 1
GHz)=8.4 D
WmHzster (for
WmHzster and D36.5 pc) and (at 1
GHz)=2.7 10 D
WmHzster (for
WmHzster and D36.5 pc). We discussed the theoretical
basis for the -D dependence and particularly the reasons for the change
in slope of the relation were stated. Added to this, we have shown the
dependence between the radio luminosity and the diameter which seems to have a
slope close to zero up to about D=36.5 pc. We have also adopted distance and
diameter values for all of the observed Galactic SNRs by examining all the
available distance values presented in the literature together with the
distances found from our -D relation.Comment: 45 pages, 2 figures, accepted for publication in Astronomical and
Astrophysical Transaction
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