Mosaic isochromosome xq and microduplication 17p13.3p13.2 in a patient with Turner syndrome and congenital cataract

La combinación del síndrome de Turner con otros trastornos genéticos, como la catarata congénita, ha sido reportada. Sin embargo, su asociación con una forma de catarata nuclear congénita con herencia autosómica dominante y penetrancia incompleta no ha sido reportada previamente en la literatura. Tampoco existen reportes de su presentación junto con rearreglos en el cromosoma 17. A continuación, presentamos el excepcional caso de una paciente con una constelación de anomalías mayores y menores, diagnosticada con síndrome de Turner en mosaico por isocromosoma Xq, asociado a una microduplicación 17p13.3p13.2, quien además presenta catarata nuclear congénita bilateral de herencia autosómica dominante con penetrancia incompleta. Se realiza una revisión acerca del origen y la causa de estas alteraciones genéticas y una aproximación a la hipótesis de la patogénesis de la asociación de dos de estos trastornos genéticos en una misma paciente.The combination of Turner syndrome with other genetic disorders such as congenital cataract has been reported, but its association with a congenital form with autosomal dominant inheritance and incomplete penetrance has not been previously reported in the literature. There are no reports on its presentations with rearrangements on chromosome 17. We report the exceptional case of a 20 months old girl with a constellation of major and minor anomalies, diagnosed with mosaic Turner syndrome by isochromosome Xq associated with a microduplication 17p13.3p13.2, who also had bilateral congenital nuclear cataract autosomal dominant with incomplete penetrance. We reviewed in the literature the origin and cause of these genetic alterations and we provided an approach to the hypothesis of the pathogenesis of the association of two of these genetic disorders in the same patient

Scalar models for the generalized Chaplygin gas and the structure formation constraints

The generalized Chaplygin gas model represents an attempt to unify dark matter and dark energy. It is characterized by a fluid with an equation of state $p = - A/\rho^\alpha$. It can be obtained from a generalization of the DBI action for a scalar, tachyonic field. At background level, this model gives very good results, but it suffers from many drawbacks at perturbative level. We show that, while for background analysis it is possible to consider any value for $\alpha$, the perturbative analysis must be restricted to positive values of $\alpha$. This restriction can be circumvented if the origin of the generalized Chaplygin gas is traced back to a self-interacting scalar field, instead of the DBI action. But, in doing so, the predictions coming from formation of large scale structures reduce the generalized Chaplygin gas model to a kind of quintessence model, and the unification scenario is lost, if the scalar field is the canonical one. However, if the unification condition is imposed from the beginning as a prior, the model may remain competitive. More interesting results, concerning the unification program, are obtained if a non-canonical self-interacting scalar field, inspired by Rastall's theory of gravity, is imposed. In this case, an agreement with the background tests is possible.Comment: Latex file, 25 pages, 33 figures in eps format. New section on scalar models. Accepted for publication in Gravitation&Cosmolog

Asymmetries observed in Saturn's magnetopause geometry

For over 10 years, the Cassini spacecraft has patrolled Saturn's magnetosphere and observed its magnetopause boundary over a wide range of prevailing solar wind and interior plasma conditions. We now have data that enable us to resolve a significant dawn-dusk asymmetry and find that the magnetosphere extends farther from the planet on the dawnside of the planet by 7 +/- 1%. In addition, an opposing dawn-dusk asymmetry in the suprathermal plasma pressure adjacent to the magnetopause has been observed. This probably acts to reduce the size asymmetry and may explain the discrepancy between the degree of asymmetry found here and a similar asymmetry found by Kivelson and Jia (2014) using MHD simulations. Finally, these observations sample a wide range of season, allowing the "intrinsic" polar flattening (14 +/- 1%) caused by the magnetodisc to be separated from the seasonally induced north-south asymmetry in the magnetopause shape found theoretically (5 +/- 1% when the planet's magnetic dipole is tilted away from the Sun by 10-17 degrees)

Evolution of Hominin Polyunsaturated Fatty Acid Metabolism: From Africa to the New World

The metabolic conversion of dietary omega-3 and omega-6 18 carbon (18C) to long chain (>20 carbon) polyunsaturated fatty acids (LC-PUFAs) is vital for human life. The rate-limiting steps of this process are catalyzed by fatty acid desaturase (FADS) 1 and 2. Therefore, understanding the evolutionary history of the FADS genes is essential to our understanding of hominin evolution. The FADS genes have two haplogroups, ancestral and derived, with the derived haplogroup being associated with more efficient LC-PUFA biosynthesis than the ancestral haplogroup. In addition, there is a complex global distribution of these haplogroups that is suggestive of Neanderthal introgression. We confirm that Native American ancestry is nearly fixed for the ancestral haplogroup, and replicate a positive selection signal in Native Americans. This positive selection potentially continued after the founding of the Americas, although simulations suggest that the timing is dependent on the allele frequency of the ancestral Beringian population. We also find that the Neanderthal FADS haplotype is more closely related to the derived haplogroup and the Denisovan clusters closer to the ancestral haplogroup. Furthermore, the derived haplogroup has a time to the most recent common ancestor of 688,474years before present. These results support an ancient polymorphism, as opposed to Neanderthal introgression, forming in the FADS region during the Pleistocene with possibly differential selection pressures on both haplogroups. The near fixation of the ancestral haplogroup in Native American ancestry calls for future studies to explore the potential health risk of associated low LC-PUFA levels in these populations.Center for Health Related Informatics and Biomaging at the University of Maryland School of Medicine; National Institutes of Health/National Heart, Lung, and Blood Institute [U01 HL72518, HL087698, HL112064]; National Institutes of Health [R01-AT008621]Open access journalThis item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at [email protected]

Observation and characterization of laser-driven Phase Space Electron Holes

The direct observation and full characterization of a Phase Space Electron Hole (EH) generated by laser-matter interaction is presented. This structure has been detected via proton radiography during the interaction between an intense laser pulse (t=1ns temporally flat-top, I= 10^14W/cm^2) and a gold 26 micron thick hohlraum. This technique has allowed us the simultaneous detection of propagation velocity, potential and electron density spatial profile across the EH with fine spatial and temporal resolution providing an unprecedentedly detailed experimental characterization

Measurements of branching fraction ratios and CP-asymmetries in suppressed B^- -> D(-> K^+ pi^-)K^- and B^- -> D(-> K^+ pi^-)pi^- decays

We report the first reconstruction in hadron collisions of the suppressed decays B^- -> D(-> K^+ pi^-)K^- and B^- -> D(-> K^+ pi^-)pi^-, sensitive to the CKM phase gamma, using data from 7 fb^-1 of integrated luminosity collected by the CDF II detector at the Tevatron collider. We reconstruct a signal for the B^- -> D(-> K^+ pi^-)K^- suppressed mode with a significance of 3.2 standard deviations, and measure the ratios of the suppressed to favored branching fractions R(K) = [22.0 \pm 8.6(stat)\pm 2.6(syst)]\times 10^-3, R^+(K) = [42.6\pm 13.7(stat)\pm 2.8(syst)]\times 10^-3, R^-(K)= [3.8\pm 10.3(stat)\pm 2.7(syst]\times 10^-3, as well as the direct CP-violating asymmetry A(K) = -0.82\pm 0.44(stat)\pm 0.09(syst) of this mode. Corresponding quantities for B^- -> D(-> K^+ pi^-)pi^- decay are also reported.Comment: 8 pages, 1 figure, accepted by Phys.Rev.D Rapid Communications for Publicatio