Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

Kufor-Rakeb syndrome is an autosomal recessive nigro-striatal-pallidal-pyramidal neurodegeneration. The onset is in the teenage years with clinical features of Parkinson’s disease plus spasticity, supranuclear upgaze paresis, and dementia. Brain scans show atrophy of the globus pallidus and pyramids and, later, widespread cerebral atrophy. We report linkage in Kufor- Rakeb syndrome to a 9 cM region of chromosome 1p36 delineated by the markers D1S436 and D1S2843, with a maximum multipoint lod score of 3.6. (J Med Genet 2001;38:680–682

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation

BACKGROUND AND OBJECTIVES: Locus heterogeneity is well established in autosomal recessive primary microcephaly (MCPH) and to date five loci have been mapped. However, the relative contributions of these loci have not been assessed and genotype-phenotype correlations have not been investigated. DESIGN: A study population of 56 consanguineous families resident in or originating from northern Pakistan was ascertained and assessed by the authors. A panel of microsatellite markers spanning each of the MCPH loci was designed, against which the families were genotyped. RESULTS: The head circumference of the 131 affected subjects ranged from 4 to 14 SD below the mean, but there was little intrafamilial variation among affecteds (± 1 SD). MCPH5 was the most prevalent, with 24/56 families consistent with linkage; 2/56 families were compatible with linkage to MCPH1, 10/56 to MCPH2, 2/56 to MCPH3, none to MCPH4, and 18/56 did not segregate with any of the loci. CONCLUSIONS: MCPH5 is the most common locus in this population. On clinical grounds alone, the phenotype of families linked to each MCPH locus could not be distinguished. We have also shown that further MCPH loci await discovery with a number of families as yet unlinked

Corn particle size and pelleting influence on growth performance, fecal shedding, and lymph node infection rates of salmonella enterica serovar typhimurium

Ninety-six pigs (initially 13.8 lb.) were used in a 28-d trial to determine the interactive effects between pelleting and particle size on Salmonella serovar Typhimurium shedding and colonization in a young growing pig model. The experiment was a 2 × 2 factorial arrangement consisting of meal or pelleted diets with fine or coarse ground corn. Pigs were fed the diets 1 wk pre-salmonella inoculation and allotted based on weight to one of four dietary treatments. For the main effect of particle size, pigs fed finer ground corn had significantly improved feed efficiency (P0.82). There was no difference in salmonella infection rates of mesenteric lymph nodes obtained on d 28 between treatments or main effects. Finer grinding and meal diets generally improved growth, feed intake, and feed efficiency compared to pigs fed coarser ground or pelleted feeds. However, particle size or diet form did not alter fecal shedding or mesenteric lymph node infection rates of salmonella organisms in our study

Damping of Tensor Modes in Cosmology

An analytic formula is given for the traceless transverse part of the anisotropic stress tensor due to free streaming neutrinos, and used to derive an integro-differential equation for the propagation of cosmological gravitational waves. The solution shows that anisotropic stress reduces the squared amplitude by 35.6 % for wavelengths that enter the horizon during the radiation-dominated phase, independent of any cosmological parameters. This decreases the tensor temperature and polarization correlation functions for these wavelengths by the same amount. The effect is less for wavelengths that enter the horizon at later times. At the longest wavelengths the decrease in the tensor correlation functions due to neutrino free streaming ranges from 10.7% for $\Omega_Mh^2=0.1$ to 9.0% for $\Omega_Mh^2=0.15$. An Appendix gives a general proof that tensor as well as scalar modes satisfy a conservation law for perturbations outside the horizon, even when the anisotropic stress tensor is not negligible.Comment: 14 pages. The original version of this paper has been expanded to deal with perturbations of any wavelength. While for wavelengths short enough to enter the horizon during radiation dominance, temperature and polarization correlations are damped by 35.6%, at the longest wavelengths the damping is from 9.0% to 11%. An added Appendix gives a general proof that tensor as well as scalar modes satisfy a conservation law outside the horizon, even during neutrino decoupling. Some references are also adde

The sensitivity of BAO Dark Energy Constraints to General Isocurvature Perturbations

Baryon Acoustic Oscillation (BAO) surveys will be a leading method for addressing the dark energy challenge in the next decade. We explore in detail the effect of allowing for small amplitude admixtures of general isocurvature perturbations in addition to the dominant adiabatic mode. We find that non-adiabatic initial conditions leave the sound speed unchanged but instead excite different harmonics. These harmonics couple differently to Silk damping, altering the form and evolution of acoustic waves in the baryon-photon fluid prior to decoupling. This modifies not only the scale on which the sound waves imprint onto the baryon distribution, which is used as the standard ruler in BAO surveys, but also the shape, width and height of the BAO peak. We discuss these effects in detail and show how more general initial conditions impact our interpretation of cosmological data in dark energy studies. We find that the inclusion of these additional isocurvature modes leads to an increase in the Dark Energy Task Force Figure of merit by 140% and 60% for the BOSS and ADEPT experiments respectively when considered in conjunction with Planck data. We also show that the incorrect assumption of adiabaticity has the potential to bias our estimates of the dark energy parameters by $3\sigma$ ($1\sigma$) for a single correlated isocurvature mode, and up to $8\sigma$ ($3\sigma$) for three correlated isocurvature modes in the case of the BOSS (ADEPT) experiment. We find that the use of the large scale structure data in conjunction with CMB data improves our ability to measure the contributions of different modes to the initial conditions by as much as 100% for certain modes in the fully correlated case.Comment: 20 pages, 17 figure

Cosmological Constraints on the Sign-Changeable Interactions

Recently, Cai and Su [Phys. Rev. D {\bf 81}, 103514 (2010)] found that the sign of interaction $Q$ in the dark sector changed in the approximate redshift range of 0.45\,\lsim\, z\,\lsim\, 0.9, by using a model-independent method to deal with the observational data. In fact, this result raises a remarkable problem, since most of the familiar interactions cannot change their signs in the whole cosmic history. Motivated by the work of Cai and Su, we have proposed a new type of interaction in a previous work [H. Wei, Nucl. Phys. B {\bf 845}, 381 (2011)]. The key ingredient is the deceleration parameter $q$ in the interaction $Q$, and hence the interaction $Q$ can change its sign when our universe changes from deceleration ($q>0$) to acceleration ($q<0$). In the present work, we consider the cosmological constraints on this new type of sign-changeable interactions, by using the latest observational data. We find that the cosmological constraints on the model parameters are fairly tight. In particular, the key parameter $\beta$ can be constrained to a narrow range.Comment: 15 pages, 1 table, 8 figures, revtex4; v2: published versio

Simulating Cosmic Microwave Background maps in multi-connected spaces

This article describes the computation of cosmic microwave background anisotropies in a universe with multi-connected spatial sections and focuses on the implementation of the topology in standard CMB computer codes. The key ingredient is the computation of the eigenmodes of the Laplacian with boundary conditions compatible with multi-connected space topology. The correlators of the coefficients of the decomposition of the temperature fluctuation in spherical harmonics are computed and examples are given for spatially flat spaces and one family of spherical spaces, namely the lens spaces. Under the hypothesis of Gaussian initial conditions, these correlators encode all the topological information of the CMB and suffice to simulate CMB maps.Comment: 33 pages, 55 figures, submitted to PRD. Higher resolution figures available on deman

Cosmological Model-independent Gamma-ray Bursts Calibration and its Cosmological Constraint to Dark Energy

As so far, the redshift of Gamma-ray bursts (GRBs) can extend to $z\sim 8$ which makes it as a complementary probe of dark energy to supernova Ia (SN Ia). However, the calibration of GRBs is still a big challenge when they are used to constrain cosmological models. Though, the absolute magnitude of GRBs is still unknown, the slopes of GRBs correlations can be used as a useful constraint to dark energy in a completely cosmological model independent way. In this paper, we follow Wang's model-independent distance measurement method and calculate their values by using 109 GRBs events via the so-called Amati relation. Then, we use the obtained model-independent distances to constrain $\Lambda$CDM model as an example.Comment: 16 pages, 5 figure

Cosmological Models and Latest Observational Data

In this note, we consider the observational constraints on some cosmological models by using the 307 Union type Ia supernovae (SNIa), the 32 calibrated Gamma-Ray Bursts (GRBs) at $z>1.4$, the updated shift parameter $R$ from WMAP 5-year data (WMAP5), and the distance parameter $A$ of the measurement of the baryon acoustic oscillation (BAO) peak in the distribution of SDSS luminous red galaxies with the updated scalar spectral index $n_s$ from WMAP5. The tighter constraints obtained here update the ones obtained previously in the literature.Comment: 10 pages, 5 figures, 1 table, revtex4; v2: discussions added, accepted by Eur. Phys. J. C; v3: published versio

Observational Constraints on Teleparallel Dark Energy

We use data from Type Ia Supernovae (SNIa), Baryon Acoustic Oscillations (BAO), and Cosmic Microwave Background (CMB) observations to constrain the recently proposed teleparallel dark energy scenario based on the teleparallel equivalent of General Relativity, in which one adds a canonical scalar field, allowing also for a nonminimal coupling with gravity. Using the power-law, the exponential and the inverse hyperbolic cosine potential ansatzes, we show that the scenario is compatible with observations. In particular, the data favor a nonminimal coupling, and although the scalar field is canonical the model can describe both the quintessence and phantom regimes.Comment: 19 pages, 6 figures, version accepted by JCA