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The CYP17-MspA1 rs743572 polymorphism is not associated with gender dysphoria
Rosa Fernández,Joselyn Cortés-Cortés,Esther Gómez-Gil,Isabel Esteva,Mari Cruz Almaraz,Antonio Guillamón,Eduardo Pásaro 한국유전학회 2016 Genes & Genomics Vol.38 No.12
Gender dysphoria is commonly thought to arise from discrepant cerebral and genital sexual differentiation. Increasing evidence supports the idea of genetic vulnerability. The purpose of this paper was to investigate whether the polymorphism CYP17-MspA1 rs743572 is associated with gender dysphoria. Fragments that included the rs743572 polymorphism were PCR amplified and digested with MspA1 in 317 MtFs, 223 FtMs, 358 control men and 264 control women. The allele/genotype frequencies were compared between groups, with the 1000 Genomes Data Base and with international literature. Allele and genotype frequencies did not differ significantly between the FtM and female control groups (v2 = 0.631; p = 0.43 and v2 = 2.767; p = 0.25), or between the MtF and male control groups (v2 = 0.105; p = 0.74 and v2 = 0.789; p = 0.67). A2 frequency was higher in the FtM (0.43) than the female control group (0.41), male control group (0.40), or MtF group (0.39), but this difference did not reach statistical significance. Genotype frequencies did not differ significantly between groups (p = 0.66), between genotypes (p = 0.4) or between sexes (p = 0.66). Our data contradict previous findings about the CYP17-MspA1 rs743572 polymorphism and gender dysphoria and concur with the 1000 Genomes Data Base, which shows that the allele frequencies vary between countries and ethnicities but not between sexes. Our data do not support a hypothetical involvement of the rs743572 polymorphism in the genetic basis of gender dysphoria.
Effects of Passive Transfer Status on Growth Performance in Buffalo Calves
Mastellone, V.,Massimini, G.,Pero, M.E.,Cortese, L.,Piantedosi, D.,Lombardi, P.,Britti, D.,Avallone, L. Asian Australasian Association of Animal Productio 2011 Animal Bioscience Vol.24 No.7
The objective of the study was to evaluate the effect of passive transfer status, determined by measuring serum immunoglobulin (Ig) concentration 24 hours after parturition, on growth performance in buffalo calves allowed to nurse the dam during the first month of life. Serum Ig concentration 24 hours after birth ranged from 28.1 to 35.9 mg/ml, birth weight ranged from 29 to 41 kg, body weight 30 days after birth ranged from 48.5 to 62.9 kg. The Average Daily Gain (ADG) from birth to day 30 ranged from 448 to 1,089 g/d. Significant linear associations were detected between serum Ig concentration 24 hours after birth and day-30 weight (p< 0.05; $R^2$ = 0.31) and between serum Ig concentration 24 hours after birth and ADG from birth to day 30 (p<0.001; $R^2$ = 0.72). Results indicated that passive transfer status was a significant source of variation in growth performance when buffalo calves nursed the dam. Maximizing passive transfer of immunity by allowing calves to nurse the dam can increase growth performance during the first month of life.
E. García-Hernández,C.G. Aguilar-Madera,E.C. Herrera-Hernández,R. Ocampo-Pérez,E. Bailón-García,Farid B. Cortés 한국공업화학회 2021 Journal of Industrial and Engineering Chemistry Vol.93 No.-
In this work, a mathematical formulation based on fundamental principles of momentum and masstransport with a kinetic adsorption model at the liquid-solid interface is proposed. This formulation wasnumerically solved and used for the interpretation of adsorption rate data of phenol onto an activatedcarbon cloth in a stirred tank adsorber under different agitation rates. The mathematical model solutionwas compared with the obtained by mathematical models that neglect the local velocity andconcentration profiles in the solution; external mass transfer model (EMTM) and thefirst-order kineticmodel (FOM). The results showed that under all studied stirring speeds (30 200 rpm) the proposedmodel was able to capture the dynamics of the concentration decay curves, while EMTM and FOM modelswere only able to interpret the data at high stirring speeds, indicating that velocity profiles play animportant role during phenol adsorption. Particular “wake zones” were identified behind the mobileadsorbent, which importantly promotes the transport of solute toward the activated carbon cloth. As aresult, it was found that convective transport is much more important than diffusive transport in thesolution.
Analyses of karyotype by G-banding and high-resolution microarrays in a gender dysphoria population
Rosa Fernández,Antonio Guillamón,Esther Gómez‑Gil,Isabel Esteva,Mari Cruz Almaraz,Joselyn Cortés‑Cortés,Beatriz Lamas,Estefanía Lema,Eduardo Pásaro 한국유전학회 2018 Genes & Genomics Vol.40 No.5
Gender Dysphoria is characterized by a marked incongruence between the cerebral sex and biological sex. To investigate the possible influence of karyotype on the etiology of Gender Dysphoria we carried out the cytogenetic analysis of karyotypes in 444 male-to-females (MtFs) and 273 female-to-males (FtMs) that attended the Gender Identity Units of Barcelona and Málaga (Spain) between 2000 and 2016. The karyotypes from 23 subjects (18 MtFs and 5 FtMs) were also analysed by Affymetrix CytoScan™ high-density (HD) arrays. Our data showed a higher incidence of cytogenetic alterations in Gender Dysphoria (2.65%) than in the general population (0.53%) (p < 0.0001). When G-banding was performed, 11 MtFs (2.48%) and 8 FtMs (2.93%) showed a cytogenetic alteration. Specifically, Klinefelter syndrome frequency was significantly higher (1.13%) (p < 0.0001), however Turner syndrome was not represented in our sample (p < 0.61). At molecular level, HD microarray analysis revealed a 17q21.31 microduplication which encompasses the gene KANSL1 (MIM612452) in 5 out of 18 MtFs and 2 out of 5 FtMs that corresponds to a copy-number variation region in chromosome 17q21.31. In conclusion, we confirm a significantly high frequency of aneuploidy, specifically Klinefelter syndrome and we identified in 7 out of 23 GD individuals the same microduplication of 572 Kb which encompasses the KANSL1 gene.
Rios-Rincon, F.G.,Estrada-Angulo, A.,Plascencia, A.,Lopez-Soto, M.A.,Castro-Perez, B.I.,Portillo-Loera, J.J.,Robles-Estrada, J.C.,Calderon-Cortes, J.F.,Davila-Ramos, H. Asian Australasian Association of Animal Productio 2014 Animal Bioscience Vol.27 No.1
Forty-eight Pelibuey${\times}$Katahdin male intact lambs ($23.87{\pm}2.84$ kg) were used in an 84-d feeding trial, with six pens per treatment in a $2{\times}2$ factorial design arrangement. The aim of the study was to evaluate the interaction of two dietary energy levels (3.05 and 2.83 Mcal/kg ME) and two dietary protein levels (17.5% and 14.5%) on growth performance, dietary energetics and carcass traits. The dietary treatments used were: i) High protein-high energy (HP-HE); ii) High protein-low energy (HP-LE); iii) Low protein-high energy (LP-HE), and iv) Low protein-low energy (LP-LE). With a high-energy level, dry matter intake (DMI) values were 6.1% lower in the low-protein diets, while with low-energy, the DMI values did not differ between the dietary protein levels. Energy levels did not influence the final weight and average daily gain (ADG), but resulted in lower DMI values and higher gain efficiencies. No effects of protein level were detected on growth performance. The observed dietary net energy (NE) ratio and observed DMI were closer than expected in all treatments and were not affected by the different treatments. There was an interaction (p<0.03) between energy and protein level for kidney-pelvic and heart fat (KPH), KPH was higher in lambs fed high energy and high protein diet but not in high energy and low protein diet. The KPH was increased (20.2%, p = 0.01) in high-energy diets, while fat thickness was increased (21.7%, p = 0.02) in high-protein diets. Therefore, it is concluded that dietary energy levels play a more important role in feed efficiency than protein levels in finishing lambs with a high-energy diet (>2.80 Mcal/kg ME). Providing a level of protein above 14.5% does not improves growth-performance, dietary energetics or carcass dressing percentage.
Monte Carlo Simulations for the Study of a Moderated Neutron Detector
M. B. Gomez Hornillos,V. Gorlychev,R. Caballero,G. Cortes,A. Poch,C. Pretel,F. Calvino,J. L. Tain,A. Algora,J. Agramunt,D. Cano-Ott,T. Martinez,E. Mendoza,J. Rissanen,J. Aysto,A. Jokinen,T. Eronen,I. 한국물리학회 2011 THE JOURNAL OF THE KOREAN PHYSICAL SOCIETY Vol.59 No.23
This work presents the Monte Carlo simulations performed with the MCNPX and GEANT4 codes for the design of a BEta deLayEd Neutron detector, BELEN-20. This detector will be used for the study of beta delayed neutron emission and consists of a block of polyethylene with dimensions 90 × 90 × 80 cm ^3 and 20 cylindrical ^3He gas counters. The results of these simulations have been validated experimentally with a ^(252)Cf source in the laboratory at UPC, Barcelona. Also the first experiment with this detector has been carried out in November 2009 in JYFL, Finland. In this experiment the neutron emission probability after beta decay of the fission products ^(88)Br, ^(94,95)Rb and ^(138)I has been measured; this data is still under analysis. Simulations with MCNPX and GEANT4 have been performed in order to obtain the efficiency of the BELEN-20 detector for each of the above nuclei using the neutron energy distribution corresponding to each nucleus.
Sustainable Development and Energy Geotechnology− Potential Roles for Geotechnical Engineering
R. J. Fragaszy,산타마리나,A. Amekudzi,D. Assimaki,R. Bachus,S. E. Burns,M. Cha,조계춘,D. D. Cortes,S. Dai,D. N. Espinoza,L. Garrow,H. Huang,J. Jang,J. W. Jung,S. Kim,K. Kurtis,이창호,C. Pasten,H. Phadnis,G. Rix 대한토목학회 2011 KSCE Journal of Civil Engineering Vol.15 No.4
The world is facing unprecedented challenges related to energy resources, global climate change, material use, and waste generation. Failure to address these challenges will inhibit the growth of the developing world and will negatively impact the standard of living and security of future generations in all nations. The solutions to these challenges will require multidisciplinary research across the social and physical sciences and engineering. Although perhaps not always recognized, geotechnical engineering expertise is critical to the solution of many energy and sustainability-related problems. Hence, geotechnical engineers and academicians have opportunity and responsibility to contribute to the solution of these worldwide problems. Research will need to be extended to non-standard issues such as thermal properties of soils; sediment and rock response to extreme conditions and at very long time scales; coupled hydro-chemo-thermo-bio-mechanical processes; positive feedback systems; the development of discontinuities; biological modification of soil properties; spatial variability; and emergent phenomena. Clearly, the challenges facing geotechnical engineering in the future will require a much broader knowledge base than our traditional educational programs provide. The geotechnical engineering curricula, from undergraduate education through continuing professional education, must address the changing needs of a profession that will increasingly be engaged in alternative/renewable energy production; energy efficiency; sustainable design, enhanced and more efficient use of natural resources, waste management, and underground utilization.
J. L. Tain,A. Algora,E. Estevez,B. Rubio,E. Valencia,D. Jordan,J. Aysto,T. Eronen,A. Jokinen,I. Moore,H. Pentilla,J. Riisanen,L. Batist,M. Bowry,M. Bunce,W. Gelletly,R. Caballero,G. Cortes,B. Gomez-Ho 한국물리학회 2011 THE JOURNAL OF THE KOREAN PHYSICAL SOCIETY Vol.59 No.23
A complete characterisation of the β-decay of neutron-rich nuclei can be obtained from the measurement of β-delayed gamma rays and, whenever the process is energetically possible, β-delayed neutrons. The accurate determination of the β-intensity distribution and the β-delayed neutron emission probability is of great relevance in the fields of reactor technology and nuclear astrophysics. A programme for combined measurements using the total absorption gamma-ray spectroscopy technique and both neutron counters and neutron time-of-flight spectrometers is presented.