Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus

A basic problem in genetic counseling of families with Duchenne/Becker muscular dystrophy (DMD/BMD) concerns the carrier status of female relatives of an affected male. In about 60% of these patients, deletions of one or more exons of the dystrophin gene can be identified. These deletions preferentially include exon 45, which can be detected by multiplex polymerase chain reaction (PCR) and Southern blot analysis of genomic cosmid clones that map to this critical region. As a new approach for definitive carrier detection, we have performed chromosomal in situ suppression (CISS) hybridization with these cosmid clones in female relatives of four unrelated patients. In normal females, most metaphases showed signals on both×chromosomes, whereas only one×chromosome was labeled in carriers. Our results demonstrate that CISS hybridization can define the carrier status in female relatives of DMD patients exhibiting a deletion in the dystrophin gene

Spectral densities and partition functions of modular quantum systems as derived from a central limit theorem

Using a central limit theorem for arrays of interacting quantum systems, we give analytical expressions for the density of states and the partition function at finite temperature of such a system, which are valid in the limit of infinite number of subsystems. Even for only small numbers of subsystems we find good accordance with some known, exact results.Comment: 6 pages, 4 figures, some steps added to derivation, accepted for publication in J. Stat. Phy

An elementary proof of the irrationality of Tschakaloff series

We present a new proof of the irrationality of values of the series $T_q(z)=\sum_{n=0}^\infty z^nq^{-n(n-1)/2}$ in both qualitative and quantitative forms. The proof is based on a hypergeometric construction of rational approximations to $T_q(z)$.Comment: 5 pages, AMSTe

Determination of Resistance Parameters of Contaminated Compacted Tropical Soils in the State of Rio de Janeiro

Direct shear (DS) tests with controlled shear rates were performed in two soils from the Baixada Fluminense region, in the city of São João do Meriti – Rio de Janeiro, Brazil. The first soil characterized as Inorganic Clay of high plasticity (CH) was located in a hillside region. The second soil characterized as medium plasticity clay (CL) was located in a central region of the studied area with a slight slope. The soils in question are deposited on non-compacted soft soil with the addition of Municipal Solid Waste (MSW). Both samples of compacted soil were excavated at a depth of 1.0 m, and undisturbed samples were collected. In addition to the previously mentioned tests, oedometric tests and soil physical classification tests were carried out to evaluate geotechnical parameters. In both tests the shear rate of 0.043 mm / min was adopted. The tests presented coherent results with probabilistic accuracy greater than 95% inreliability compared to three tests with compacted tropical soils

Global and local relaxation of a spin-chain under exact Schroedinger and master-equation dynamics

We solve the Schroedinger equation for an interacting spin-chain locally coupled to a quantum environment with a specific degeneracy structure. The reduced dynamics of the whole spin-chain as well as of single spins is analyzed. We show, that the total spin-chain relaxes to a thermal equilibrium state independently of the internal interaction strength. In contrast, the asymptotic states of each individual spin are thermal for weak but non-thermal for stronger spin-spin coupling. The transition between both scenarios is found for couplings of the order of $0.1 \times \Delta E$, with $\Delta E$ denoting the Zeeman-splitting. We compare these results with a master equation treatment; when time averaged, both approaches lead to the same asymptotic state and finally with analytical results.Comment: RevTeX, 8 pages, 14 figures, added DOI and forgotten reference

Optimal refrigerator

We study a refrigerator model which consists of two $n$-level systems interacting via a pulsed external field. Each system couples to its own thermal bath at temperatures $T_h$ and $T_c$, respectively ($\theta\equiv T_c/T_h<1$). The refrigerator functions in two steps: thermally isolated interaction between the systems driven by the external field and isothermal relaxation back to equilibrium. There is a complementarity between the power of heat transfer from the cold bath and the efficiency: the latter nullifies when the former is maximized and {\it vice versa}. A reasonable compromise is achieved by optimizing the product of the heat-power and efficiency over the Hamiltonian of the two system. The efficiency is then found to be bounded from below by $\zeta_{\rm CA}=\frac{1}{\sqrt{1-\theta}}-1$ (an analogue of the Curzon-Ahlborn efficiency), besides being bound from above by the Carnot efficiency $\zeta_{\rm C} = \frac{1}{1-\theta}-1$. The lower bound is reached in the equilibrium limit $\theta\to 1$. The Carnot bound is reached (for a finite power and a finite amount of heat transferred per cycle) for $\ln n\gg 1$. If the above maximization is constrained by assuming homogeneous energy spectra for both systems, the efficiency is bounded from above by $\zeta_{\rm CA}$ and converges to it for $n\gg 1$.Comment: 12 pages, 3 figure

Dopamine terminals from the ventral tegmental area gate intrinsic inhibition in the prefrontal cortex.

Spike frequency adaptation (SFA or accommodation) and calcium-activated potassium channels that underlie after-hyperpolarization potentials (AHP) regulate repetitive firing of neurons. Precisely how neuromodulators such as dopamine from the ventral tegmental area (VTA) regulate SFA and AHP (together referred to as intrinsic inhibition) in the prefrontal cortex (PFC) remains unclear. Using whole cell electrophysiology, we measured intrinsic inhibition in prelimbic (PL) layer 5 pyramidal cells of male adult rats. Results demonstrate that bath application of dopamine reduced intrinsic inhibition (EC50: 25.0 μmol/L). This dopamine action was facilitated by coapplication of cocaine (1 μmol/L), a blocker of dopamine reuptake. To evaluate VTA dopamine terminals in PFC slices, we transfected VTA dopamine cells of TH::Cre rats in vivo with Cre-dependent AAVs to express channelrhodopsin-2 (ChR2) or designer receptors exclusively activated by designer drugs (DREADDS). In PFC slices from these animals, stimulation of VTA terminals with either blue light to activate ChR2 or bath application of clozapine-N-oxide (CNO) to activate Gq-DREADDs produced a similar reduction in intrinsic inhibition in PL neurons. Electrophysiological recordings from cells expressing retrograde fluorescent tracers showed that this plasticity occurs in PL neurons projecting to the accumbens core. Collectively, these data highlight an ability of VTA terminals to gate intrinsic inhibition in the PFC, and under appropriate circumstances, enhance PL neuronal firing. These cellular actions of dopamine may be important for dopamine-dependent behaviors involving cocaine and cue-reward associations within cortical-striatal circuits

Stability, Gain, and Robustness in Quantum Feedback Networks

This paper concerns the problem of stability for quantum feedback networks. We demonstrate in the context of quantum optics how stability of quantum feedback networks can be guaranteed using only simple gain inequalities for network components and algebraic relationships determined by the network. Quantum feedback networks are shown to be stable if the loop gain is less than one-this is an extension of the famous small gain theorem of classical control theory. We illustrate the simplicity and power of the small gain approach with applications to important problems of robust stability and robust stabilization.Comment: 16 page