993 research outputs found
Modification by high pressure of fluctuation paraconductivity of underdoped HoBa2Cu3O7-δ single crystals
Quark Number Susceptibility with Finite Chemical Potential in Holographic QCD
We study the quark number susceptibility in holographic QCD with a finite
chemical potential or under an external magnetic field at finite temperature.
We first consider the quark number susceptibility with the chemical potential.
We observe that approaching the critical temperature from high temperature
regime, the quark number susceptibility divided by temperature square develops
a peak as we increase the chemical potential, which confirms recent lattice QCD
results. We discuss this behavior in connection with the existence of the
critical end point in the QCD phase diagram. We also consider the quark number
susceptibility under the external magnetic field. We predict that the quark
number susceptibility exhibits a blow-up behavior at low temperature as we
raise the value of the magnetic field. We finally spell out some limitations of
our study.Comment: 25 pages, 3 figures, published versio
Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals
Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI). The most common 46,XY phenotype is atypical or female external genitalia with clitoromegaly, palpable gonads, and absence of Müllerian derivatives. Notably, an undervirilized external genitalia is frequently seen at birth, while spontaneous virilization may occur later, at puberty. In 46,XX individuals, NR5A1 mutations are a rare genetic cause of POI, manifesting as primary or secondary amenorrhea, infertility, hypoestrogenism, and elevated gonadotropin levels. Mothers and sisters of 46,XY DSD patients carrying heterozygous NR5A1 mutations may develop POI, and therefore require appropriate counseling. Moreover, the recurrent heterozygous p.Arg92Trp NR5A1 mutation is associated with variable degrees of testis development in 46,XX patients. A clear genotype-phenotype correlation is not seen in patients bearing NR5A1 mutations, suggesting that genetic modifiers, such as pathogenic variants in other testis/ovarian-determining genes, may contribute to the phenotypic expression. Here, we review the published literature on NR5A1-related disease, and discuss our findings at a single tertiary center in Brazil, including ten novel NR5A1 mutations identified in 46,XY DSD patients. The ever-expanding phenotypic range associated with NR5A1 variants in XY and XX individuals confirms its pivotal role in reproductive biology, and should alert clinicians to the possibility of NR5A1 defects in a variety of phenotypes presenting with gonadal dysfunction
Clinical and Economic Impact of Diabetes Mellitus on Percutaneous and Surgical Treatment of Multivessel Coronary Disease Patients
BACKGROUND: Our aims were to compare coronary artery bypass grafting (CABG) and stenting for the treatment of diabetic patients with multivessel coronary disease enrolled in the Arterial Revascularization Therapy Study (ARTS) trial and to determine the
Femtosecond control of electric currents at the interfaces of metallic ferromagnetic heterostructures
The idea to utilize not only the charge but also the spin of electrons in the
operation of electronic devices has led to the development of spintronics,
causing a revolution in how information is stored and processed. A novel
advancement would be to develop ultrafast spintronics using femtosecond laser
pulses. Employing terahertz (10 Hz) emission spectroscopy, we
demonstrate optical generation of spin-polarized electric currents at the
interfaces of metallic ferromagnetic heterostructures at the femtosecond
timescale. The direction of the photocurrent is controlled by the helicity of
the circularly polarized light. These results open up new opportunities for
realizing spintronics in the unprecedented terahertz regime and provide new
insights in all-optical control of magnetism.Comment: 3 figures and 2 tables in the main tex
A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype
PubMed ID: 23555276This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited
Distances and ages of globular clusters using Hipparcos parallaxes of local subdwarfs
We discuss the impact of Population II and Globular Cluster (GCs) stars on
the derivation of the age of the Universe, and on the study of the formation
and early evolution of galaxies, our own in particular. The long-standing
problem of the actual distance scale to Population II stars and GCs is
addressed, and a variety of different methods commonly used to derive distances
to Population II stars are briefly reviewed. Emphasis is given to the
discussion of distances and ages for GCs derived using Hipparcos parallaxes of
local subdwarfs. Results obtained by different authors are slightly different,
depending on different assumptions about metallicity scale, reddenings, and
corrections for undetected binaries. These and other uncertainties present in
the method are discussed. Finally, we outline progress expected in the near
future.Comment: Invited review article to appear in: `Post-Hipparcos Cosmic Candles',
A. Heck & F. Caputo (Eds), Kluwer Academic Publ., Dordrecht, in press. 22
pages including 3 tables and 2 postscript figures, uses Kluwer's crckapb.sty
LaTeX style file, enclose
Programa de educação em síndromes genéticas: avaliação motivacional de um material educacional on line
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