Mapping genes through the use of linkage disequilibrium generated by genetic drift: 'Drift mapping' in small populations with no demographic expansion

Linkage disequilibrium has been a powerful tool in identifying rare disease alleles in human populations. To date, most research has been directed to isolated populations which have undergone a bottleneck followed by rapid exponential expansion. While this strategy works well for rare diseases in which all disease alleles in the population today are clonal copies of some common ancestral allele, for common disease genes with substantial allelic heterogeneity, this approach is not predicted to work. In this paper, we describe the dynamics of linkage disequilibrium in populations which have not undergone a demographic expansion. In these populations, it is shown that genetic drift creates disequilibrium over time, while in expanded populations, the disequilibrium decays with time. We propose that common disease alleles might be more efficiently identified by drift mapping - linkage disequilibrium mapping in small, old populations of constant size where the disequilibrium is the result of genetic drift, not founder effect. Theoretical models, empirical data, and simulated population models are presented as evidence for the utility of this approach

Polarons and Molecules in a Two-Dimensional Fermi Gas

We study an impurity atom in a two-dimensional Fermi gas using variational wave functions for (i) an impurity dressed by particle-hole excitations (polaron) and (ii) a dimer consisting of the impurity and a majority atom. In contrast to three dimensions, where similar calculations predict a sharp transition to a dimer state with increasing interspecies attraction, we show that the polaron ansatz always gives a lower energy. However, the exact solution for a heavy impurity reveals that both a two-body bound state and distortions of the Fermi sea are crucial. This reflects the importance of particle-hole pairs in lower dimensions and makes simple variational calculations unreliable. We show that the energy of an impurity gives important information about its dressing cloud, for which both ans\"atze give inaccurate results.Comment: 5 pages, 2 figures, minor change

Correlations in Ultracold Trapped Few-Boson Systems: Transition from Condensation to Fermionization

We study the correlation properties of the ground states of few ultracold bosons, trapped in double wells of varying barrier height in one dimension. Extending previous results on the signature of the transition from a Bose-condensed state via fragmentation to the hard-core limit, we provide a deeper understanding of that transition by relating it to the loss of coherence in the one-body density matrix and to the emerging long-range tail in the momentum spectrum. These are accounted for in detail by discussing the natural orbitals and their occupations. Our discussion is complemented by an analysis of the two-body correlation function.Comment: 22 pages, 7 figure

Excitations of Few-Boson Systems in 1-D Harmonic and Double Wells

We examine the lowest excitations of one-dimensional few-boson systems trapped in double wells of variable barrier height. Based on a numerically exact multi-configurational method, we follow the whole pathway from the non-interacting to the fermionization limit. It is shown how, in a purely harmonic trap, the initially equidistant, degenerate levels are split up due to interactions, but merge again for strong enough coupling. In a double well, the low-lying spectrum is largely rearranged in the course of fermionization, exhibiting level adhesion and (anti-)crossings. The evolution of the underlying states is explained in analogy to the ground-state behavior. Our discussion is complemented by illuminating the crossover from a single to a double well.Comment: 11 pages, 10 figure

Quantum dynamics of two bosons in an anharmonic trap: Collective vs internal excitations

This work deals with the effects of an anharmonic trap on an interacting two-boson system in one dimension. Our primary focus is on the role of the induced coupling between the center of mass and the relative motion as both anharmonicity and the (repulsive) interaction strength are varied. The ground state reveals a strong localization in the relative coordinate, counteracting the tendency to fragment for stronger repulsion. To explore the quantum dynamics, we study the system's response upon (i) exciting the harmonic ground state by continuously switching on an additional anharmonicity, and (ii) displacing the center of mass, this way triggering collective oscillations. The interplay between collective and internal dynamics materializes in the collapse of oscillations, which are explained in terms of few-mode models.Comment: 8 pages, 7 figure

Cardiovascular correlates of motor vehicle accident related posttraumatic stress disorder and its successful treatment

Springer Open Choice ArticlePersons with posttraumatic stress disorder (PTSD) have been shown to display elevated baseline cardiovascular activity and a heightened physiological reactivity to trauma-related stimuli. Study 1 examined differences in baseline heart rate (HR) and HR reactivity in 68 survivors of motor vehicle accidents (MVAs) and healthy controls without MVA. MVA survivors with PTSD (n=26), subsyndromal PTSD (n=22), traumatized controls without PTSD (non-PTSD with MVA, n=20) and healthy controls without MVA (HC, n=27) underwent measurement of HR during baseline and exposure to a neutral, positive, negative, and trauma-related picture. PTSD patients showed elevated baseline HR and increased HR reactivity only during exposure to the trauma-related picture. Study 2 investigated whether the elevated physiological responses observed in Study 1 normalized after cognitive behavioral therapy (CBT). We conducted a randomized, controlled treatment trial comparing CBT (n=17) to a Wait-list condition (WLC, n=18). Results showed a greater decrease in HR reactivity for CBT than for WLC. The change in HR reactivity was associated with clinical improvement.This study was supported by the Deutsche Forschungsgemeinschaft (KA 1476/3

Binding between two-component bosons in one dimension

We investigate the ground state of one-dimensional few-atom Bose-Bose mixtures under harmonic confinement throughout the crossover from weak to strong inter-species attraction. The calculations are based on the numerically exact multi-configurational time-dependent Hartree method. For repulsive components we detail the condition for the formation of a molecular Tonks-Girardeau gas in the regime of intermediate inter-species interactions, and the formation of a molecular condensate for stronger coupling. Beyond a critical inter-species attraction, the system collapses to an overall bound state. Different pathways emerge for unequal particle numbers and intra-species interactions. In particular, for mixtures with one attractive component, this species can be viewed as an effective potential dimple in the trap center for the other, repulsive component.Comment: 10 pages, 10 figure

A dipolar self-induced bosonic Josephson junction

We propose a new scheme for observing Josephson oscillations and macroscopic quantum self-trapping phenomena in a toroidally confined Bose-Einstein condensate: a dipolar self-induced Josephson junction. Polarizing the atoms perpendicularly to the trap symmetry axis, an effective ring-shaped, double-well potential is achieved which is induced by the dipolar interaction. By numerically solving the three-dimensional time-dependent Gross-Pitaevskii equation we show that coherent tunneling phenomena such as Josephson oscillations and quantum self-trapping can take place. The dynamics in the self-induced junction can be qualitatively described by a two-mode model taking into account both s-wave and dipolar interactions.Comment: Major changes. Accepted for publication in EP

Excitations of attractive 1-D bosons: Binding vs. fermionization

The stationary states of few bosons in a one-dimensional harmonic trap are investigated throughout the crossover from weak to strongly attractive interactions. For sufficient attraction, three different classes of states emerge: (i) N-body bound states, (ii) bound states of smaller fragments, and (iii) gas-like states that fermionize, that is, map to ideal fermions in the limit of infinite attraction. The two-body correlations and momentum spectra characteristic of the three classes are discussed, and the results are illustrated using the soluble two-particle model.Comment: 7 pages, 5 figure

Hypertriglyceridaemia in adolescents may have serious complications

Acute pancreatitis is an often-overlooked cause of acute abdominal pain in children and adolescents. Severe hypertriglyceridaemia is an important cause of recurrent acute pancreatitis. Monogenic causes of hypertriglyceridaemia, such as familial chylomicronaemia caused by lipoprotein lipase deficiency, are more frequently encountered in children and adolescents, but remain rare. Polygenic hypertriglyceridaemia is more common, but may require a precipitant before manifesting. With the global increase in obesity and type 2 diabetes, secondary causes of hypertriglyceridaemia in children and adolescents are increasing. We report two cases of severe hypertriglyceridaemia and pancreatitis in adolescent females. Hypertriglyceridaemia improved markedly with restriction of dietary fat. An inhibitor to lipoprotein lipase was found to be the cause in one patient, while in the other limited genetic investigation excluded chylomicronaemia owing to deficiency of lipoprotein lipase, its activators and processing proteins