Duchenne muscular dystrophy

Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads to difficulties with movement and, eventually, to the need for assisted ventilation and premature death. The disease is caused by mutations in DMD (encoding dystrophin) that abolish the production of dystrophin in muscle. Muscles without dystrophin are more sensitive to damage, resulting in progressive loss of muscle tissue and function, in addition to cardiomyopathy. Recent studies have greatly deepened our understanding of the primary and secondary pathogenetic mechanisms. Guidelines for the multidisciplinary care for Duchenne muscular dystrophy that address obtaining a genetic diagnosis and managing the various aspects of the disease have been established. In addition, a number of therapies that aim to restore the missing dystrophin protein or address secondary pathology have received regulatory approval and many others are in clinical development.Duchenne muscular dystrophy is an X-linked progressive, muscle-wasting disease that manifests in childhood as difficulties with movement. This Primer by Aartsma-Rus and colleagues discusses the clinical presentation, epidemiology, pathophysiology, genetic diagnosis and treatment of this disorder.Functional Genomics of Muscle, Nerve and Brain Disorder

Entangled quantum tunneling of two-component Bose-Einstein condensates

We examine the quantum tunneling process in Bose condensates of two interacting species trapped in a double well configuration. We discover the condition under which particles of different species can tunnel as pairs through the potential barrier between two wells in opposition directions. This novel form of tunneling is due to the interspecies interaction that eliminates the self- trapping effect. The correlated motion of tunneling atoms leads to the generation of quantum entanglement between two macroscopically coherent systems.Comment: 4 pages, 3 figure

Many particle entanglement in two-component Bose-Einstein Condensates

We investigate schemes to dynamically create many particle entangled states of a two component Bose-Einstein condensate in a very short time proportional to 1/N where $N$ is the number of condensate particles. For small $N$ we compare exact numerical calculations with analytical semiclassical estimates and find very good agreement for $N \geq 50$. We also estimate the effect of decoherence on our scheme, study possible scenarios for measuring the entangled states, and investigate experimental imperfections.Comment: 12 pages, 8 figure

Dynamically turning off interactions in a two component condensate

We propose a mechanism to change the interaction strengths of a two component condensate. It is shown that the application of pi/2 pulses allows to alter the effective interspecies interaction strength as well as the effective interaction strength between particles of the same kind. This mechanism provides a simple method to transform spatially stable condensates into unstable once and vice versa. It also provides a means to store a squeezed spin state by turning off the interaction for the internal states and thus allows to gain control over many body entangled states.Comment: 7 pages 5 figures, symbols changed, minor changes, to appear in Phys. Rev.

Single Atom Cooling by Superfluid Immersion: A Non-Destructive Method for Qubits

We present a scheme to cool the motional state of neutral atoms confined in sites of an optical lattice by immersing the system in a superfluid. The motion of the atoms is damped by the generation of excitations in the superfluid, and under appropriate conditions the internal state of the atom remains unchanged. This scheme can thus be used to cool atoms used to encode a series of entangled qubits non-destructively. Within realisable parameter ranges, the rate of cooling to the ground state is found to be sufficiently large to be useful in experiments.Comment: 14 pages, 9 figures, RevTeX

Entanglement Creation Using Quantum Interrogation

We present some applications of high efficiency quantum interrogation ("interaction free measurement") for the creation of entangled states of separate atoms and of separate photons. The quantum interrogation of a quantum object in a superposition of object-in and object-out leaves the object and probe in an entangled state. The probe can then be further entangled with other objects in subsequent quantum interrogations. By then projecting out those cases were the probe is left in a particular final state, the quantum objects can themselves be left in various entangled states. In this way we show how to generate two-, three-, and higher qubit entanglement between atoms and between photons. The effect of finite efficiency for the quantum interrogation is delineated for the various schemes.Comment: 7 pages, 13 figures, Submitted to PR

Large-scale pharmacogenomic study of sulfonylureas and the QT, JT and QRS intervals: CHARGE Pharmacogenomics Working Group

Sulfonylureas, a commonly used class of medication used to treat type 2 diabetes, have been associated with an increased risk of cardiovascular disease. Their effects on QT interval duration and related electrocardiographic phenotypes are potential mechanisms for this adverse effect. In 11 ethnically diverse cohorts that included 71 857 European, African-American and Hispanic/Latino ancestry individuals with repeated measures of medication use and electrocardiogram (ECG) measurements, we conducted a pharmacogenomic genome-wide association study of sulfonylurea use and three ECG phenotypes: QT, JT and QRS intervals. In ancestry-specific meta-analyses, eight novel pharmacogenomic loci met the threshold for genome-wide significance (P<5 × 10−8), and a pharmacokinetic variant in CYP2C9 (rs1057910) that has been associated with sulfonylurea-related treatment effects and other adverse drug reactions in previous studies was replicated. Additional research is needed to replicate the novel findings and to understand their biological basis

Inertial and fluctuational effects on the motion of a Bose superfluid vortex

We study the motion of a vortex under the influence of a harmonic force in an approximately two dimensional trapped Bose-condensed gas. The Hall-Vinen-Iordanskii equations, modified to include a fluctuational force and an inertial mass term, are solved for the vortex motion. The mass of the vortex has a strong influence on the time it takes the vortex to escape the trap. Since the vortex mass also depends on the trap size we have an additional dependence on the trap size in the escape time which we compare to the massless case.Comment: Submitted to J. Low. Temp. Phy