Behavioral profile of adults with Prader-Willi syndrome : correlations with individual and environmental variables

Background: Maladaptive behavior has been reported as a phenotypical feature in Prader–Willi syndrome (PWS). It severely limits social adaptation and the quality of life of children and adults with the syndrome. Different factors have been linked with the intensity and form of these behavioral disturbances but there is no consensus about the cause. Consequently, there is still controversy regarding management strategies and there is a need for new data. Methods: The behavior of 100 adults with PWS attending a dedicated center was assessed using the Developmental Behavior Checklist for Adults (DBC-A) and the PWS-specific Hyperphagia Questionnaire. The DBC-A was completed separately by trained caregivers at the center and relatives or caregivers in a natural setting. Genotype, gender, age, degree of obesity and cognitive impairment were analyzed as variables with a hypothetical influence on behavioral features. Results: Patients showed a relatively high rate of behavioral disturbances other than hyperphagia. Disruptive and social relating were the highest scoring DBC-A subscales whereas anxiety/antisocial and self-absorbed were the lowest. When hospital caregiver and natural caregiver scores were compared, scores for the latter were higher for all subscales except for disruptive and anxiety/antisocial. These effects of institutional management were underlined. In the DBC-A, 22 items have descriptive indications of PWS behavior and were used for further comparisons and correlation analysis. In contrast to previous reports, rates of disturbed behavior were lower in patients with a deletion genotype. However, the behavioral profile was similar for both genotypes. No differences were found in any measurement when comparing type I and type II deletions. The other analyzed variables showed little relevance. Conclusions: Significant rates of behavioral disorders were highlighted and their typology described in a large cohort of adults with PWS. The deletion genotype was related to a lower severity of symptoms. Some major behavioral problems, such as hyperphagia, may be well controlled if living circumstances are adapted to the specific requirements of individuals with PWS.

Community structure in real-world networks from a non-parametrical synchronization-based dynamical approach

[EN]This work analyzes the problem of community structure in real-world networks based on the synchronization of nonidentical coupled chaotic Rössler oscillators each one characterized by a defined natural frequency, and coupled according to a predefined network topology. The interaction scheme contemplates an uniformly increasing coupling force to simulate a society in which the association between the agents grows in time. To enhance the stability of the correlated states that could emerge from the synchronization process, we propose a parameterless mechanism that adapts the characteristic frequencies of coupled oscillators according to a dynamic connectivity matrix deduced from correlated data. We show that the characteristic frequency vector that results from the adaptation mechanism reveals the underlying community structure present in the network.

Use of generalised additive models to categorise continuous variables in clinical prediction

13 P.

The influence of some environmental variables on the apparent abundance of skipjack tuna, Katsuwonus pelamis, in the Eastern Pacific Ocean

ENGLISH: The abundance of skipjack larvae in the central and western Pacific approximately doubled for every 1°C increase in sea-surface temperature (SST) from 23°C to a maximum of about 29°C, and then usually decreased with further increases in SST. Skipjack larvae are scarce in the eastern Pacific Ocean (EPO), so most skipjack recruits and adults in this area are believed to have originated in the central and, possibly, the western Pacific. The catch per unit of effort (CPUE), in short tons per day's fishing, and the catch rate, in number of fish per day's fishing, are estimates of apparent abundance in a fishery. The logarithm of the annual CPUE for skipjack for international baitboats in the EPO for the 1934-1960 period was positively correlated with SST in the spawning area in the central Pacific 18 months earlier (r2 0.31), during the July-June period when most of the recruits in each cohort were presumed to have been spawned. Adequate data for other environmental variables were not available for testing with the baitboat data. The other environmental variables available and selected for testing for correlation with estimates of skipjack abundance for purse seiners for the 1961-1984 period and the reasons for their selection are as follows. 1)Wind-mixing index (WMI). The degree of mixing in the upper layers of the ocean is proportional to the cube of the wind speed, called WMI. The degree of mixing in the spawning areas of the central and the western Pacific may affect the concentration of organisms that skipjack larvae feed upon, thereby influencing their survival, and ultimately determining cohort strength and the number of recruits to the eastern Pacific fishery. 2) SST in the fishing areas at the time of fishing (SST). The CPUE for yellowfin tuna has been shown to be inversely related to SST in the fishing areas, and there are indications that skipjack CPUE is lower during EI Nino events when SST is higher than normal. 3) North-south SST gradient across the thermal front off the Gulf of Guayaquil. This is a measure of the degree of upwelling and nutrient enrichment of the upper waters south of the front and ultimately of the production of food for tunas. 4) Speed of the North Equatorial Countercurrent (NECC). Young skipjack may migrate from the central Pacific to the EPO in the eastward flowing NECC; if so, the number of recruits might be affected by variations in the speed of the current. The logarithm of the annual catch rate of skipjack recruits by international purse seiners in the EPO for the 1961-1984 period was positively correlated with SST in the spawning area of the central Pacific 18 months earlier (r2 = 0.21),and inversely correlated with WMI in the spawning area 18 months earlier (r2 0.46). The logarithm of CPUE for purse seiners in the area off the Gulf of Guayaquil was not correlated with SST in the spawning area 18 months earlier, but was inversely correlated with WMI in the spawning area 18 months earlier (r2 = 0.19), and inversely correlated with the north-south SST gradient in the fishing area at the time of fishing (r2 0.32). Neither of these estimates of apparent abundance from purse seiners were correlated with SST in the fishing areas, or with the speed of the NECC at earlier times. SPANISH: La abundancia de larvas de barrilete en el Pacífico central y occidental se multiplicó por dos, aproximadamente, por cada aumento de 1°Cen la temperatura de la superficie del mar (TSM) entre 23°C y un máximo de unos 29°C, y luego generalmente disminuyó con más aumentos en la TSM. Las larvas de barrilete son escasas en el Océano Pacífico oriental (OPO), y por lo tanto se cree que la mayoría de los reclutas y adultos en esta zona surgieron del Pacífico central, y posiblemente también del Pacífico occidental. La captura por unidad de esfuerzo (CPUE), en toneladas cortas por día de pesca, y la tasa de captura, en número de peces por día de pesca, son estimaciones de la abundancia aparente en una pesquería. El logaritmo de la CPUE anual de barrilete lograda por barcos de carnada en el OPO en el período 1934-1960 se correlacionó positivamente con la TSM en la zona de desove en el Pacífico central de 18 meses antes (r2 = 0.31), durante el período de junio-julio en el cual se cree que nació la mayoría de los reclutas en cada cohorte. No se dispuso de datos suficientes sobre otras variables ambientales para comprobarlos con los datos de los barcos de carnada. Las demás variables ambientales disponibles y seleccionadas para someterlas a pruebas de correlación con las estimaciones de la abundancia del barrilete de barcos cerqueros en el período 1961-1984, y las razones por su selección, son las siguientes: 1) Indice de mezcla por el viento (IMV). El grado de mezcla en las capas superiores del océano es proporcional al cubo de la velocidad del viento, llamado IMV. Es posible que el grado de mezcla en las zonas de desove del Pacífico central y occidental afecte la concentración de los organismos que alimentan a las larvas del barrilete, afectando así la supervivencia de éstas, y finalmente determinando el tamaño de las cohortes y el número de reclutas a la pesquería del OPO. 2) TSM en la zona de pesca al realizarse la pesca (TSM). Se ha mostrado que la relación de la CPUE del atún aleta amarilla a la TSM en la zona de pesca es inversa, y existen indicaciones que la CPUE de barrilete es inferior durante eventos del Niño, cuando las TSM son superiores a lo normal. 3) Gradiente norte-sur de las TSM a través del frente térmico frente al Golfo de Guayaquil. Esto es una medida del grado de afloramiento y enriquecimiento nutritivo del nivel superior de las aguas al sur de dicho frente, y finalmente de la producción de alimento para los atunes. 4) La velocidad de la Contracorriente Ecuatorial del Norte (CCEN). Es posible que los bariletes juveniles migren del Pacífico central al Pacífico oriental en la CCEN, que fluye hacia el este; de ser así, es posible que la cantidad de reclutas se vea afectada por variaciones en la velocidad de la corriente. El logaritmo de la tasa anual de captura de reclutas de barrilete por cerqueros de varias banderas en el OPO en el período 1961-1964 estuvo correlacionado de forma positiva con las TSM en la zona de desove del Pacífico central de 18meses antes (r2 0.21),y de forma inversa con el IMV de la zona de desove de 18 meses antes (r2 0.46). El logaritmo de la CPUE de los cerqueros en la zona frente al Golfo de Guayaquil no estuvo correlacionado con las TSM en la zona de desove de 18 meses antes, pero sí estuvo correlacionado de forma inversa con el IMV en la zona de desove de 18 meses antes (r2 0.19),y con el gradiente norte-sur de las TSM en la zona de pesca al realizarse la pesca (r2 0.32). Ninguna de estas estimaciones de abundancia aparente provenientes de barcos cerqueros estuvo correlacionada con las TSM en las zonas de pesca o con la velocidad de la CCEN en épocas anteriores. (PDF contains 140 pages.)

A dynamical systems analysis of vortex pinch-off

Vortex rings constitute the main structure in the wakes of a wide class of swimming and flying animals, as well as in cardiac flows and in the jets generated by some moss and fungi. However, there is a physical limit, determined by an energy maximization principle called the Kelvin-Benjamin principle, to the size that axisymmetric vortex rings can achieve. The existence of this limit is known to lead to the separation of a growing vortex ring from the shear layer feeding it, a process known as `vortex pinch-off', and characterized by the dimensionless vortex formation number. The goal of this thesis is to improve our understanding of vortex pinch-off as it relates to biological propulsion, and to provide future researchers with tools to assist in identifying and predicting pinch-off in biological flows.

To this end, we introduce a method for identifying pinch-off in starting jets using the Lagrangian coherent structures in the flow, and apply this criterion to an experimentally generated starting jet. Since most naturally occurring vortex rings are not circular, we extend the definition of the vortex formation number to include non-axisymmetric vortex rings, and find that the formation number for moderately non-axisymmetric vortices is similar to that of circular vortex rings. This suggests that naturally occurring vortex rings may be modeled as axisymmetric vortex rings. Therefore, we consider the perturbation response of the Norbury family of axisymmetric vortex rings. This family is chosen to model vortex rings of increasing thickness and circulation, and their response to prolate shape perturbations is simulated using contour dynamics. Finally, the response of more realistic models for vortex rings, constructed from experimental data using nested contours, to perturbations which resemble those encountered by forming vortices more closely, is simulated using contour dynamics. In both families of models, a change in response analogous to pinch-off is found as members of the family with progressively thicker cores are considered. We posit that this analogy may be exploited to understand and predict pinch-off in complex biological flows, where current methods are not applicable in practice, and criteria based on the properties of vortex rings alone are necessary.

Searches for new symmetries in pp collisions with the razor kinematic variables at √s = 7 TeV

The construction and LHC phenomenology of the razor variables M_R, an event-by-event indicator of the heavy particle mass scale, and R, a dimensionless variable related to the transverse momentum imbalance of events and missing transverse energy, are presented.  The variables are used  in the analysis of the first proton-proton collisions dataset at CMS  (35 pb^-1) in a search for superpartners of the quarks and gluons, targeting indirect hints of dark matter candidates in the context of supersymmetric theoretical frameworks. The analysis produced the highest sensitivity results for SUSY to date and extended the LHC reach far beyond the previous Tevatron results.  A generalized inclusive search is subsequently presented for new heavy particle pairs produced in √s = 7 TeV proton-proton collisions at the LHC using 4.7±0.1 fb^-1 of integrated luminosity from the second LHC run of 2011.  The selected events are analyzed in the 2D razor-space of M_R and R and the analysis is performed in 12 tiers of all-hadronic, single and double leptons final states in the presence and absence of b-quarks, probing the third generation sector using the event heavy-flavor content.   The search is sensitive to generic supersymmetry models with minimal assumptions about the superpartner decay chains. No excess is observed in the number or shape of event yields relative to Standard Model predictions. Exclusion limits are derived in the CMSSM framework with  gluino masses up to 800 GeV and squark masses up to 1.35 TeV excluded at 95% confidence level, depending on the model parameters. The results are also interpreted for a collection of simplified models, in which gluinos are excluded with masses as large as 1.1 TeV, for small neutralino masses, and the first-two generation squarks, stops and sbottoms are excluded for masses up to about 800, 425 and 400 GeV, respectively.

With the discovery of a new boson by the CMS and ATLAS experiments in the γ-γ and 4 lepton final states, the identity of the putative Higgs candidate must be established through the measurements of its properties. The spin and quantum numbers are of particular importance, and we describe a method for measuring the J^PC of this particle using the observed signal events in the H to ZZ^* to 4 lepton channel developed before the discovery. Adaptations of the razor kinematic variables are introduced for the H to WW^* to 2 lepton/2 neutrino channel, improving the resonance mass resolution and increasing the discovery significance. The prospects for incorporating this channel in an examination of the new boson J^PC is discussed, with indications that this it could provide complementary information to the H to ZZ^* to 4 lepton final state, particularly for measuring CP-violation in these decays.

Tools for the study of dynamical spacetimes

This thesis covers a range of topics in numerical and analytical relativity, centered around introducing tools and methodologies for the study of dynamical spacetimes. The scope of the studies is limited to classical (as opposed to quantum) vacuum spacetimes described by Einstein's general theory of relativity. The numerical works presented here are carried out within the Spectral Einstein Code (SpEC) infrastructure, while analytical calculations extensively utilize Wolfram's Mathematica program.

We begin by examining highly dynamical spacetimes such as binary black hole mergers, which can be investigated using numerical simulations. However, there are difficulties in interpreting the output of such simulations. One difficulty stems from the lack of a canonical coordinate system (henceforth referred to as gauge freedom) and tetrad, against which quantities such as Newman-Penrose Psi_4 (usually interpreted as the gravitational wave part of curvature) should be measured. We tackle this problem in Chapter 2 by introducing a set of geometrically motivated coordinates that are independent of the simulation gauge choice, as well as a quasi-Kinnersley tetrad, also invariant under gauge changes in addition to being optimally suited to the task of gravitational wave extraction.

Another difficulty arises from the need to condense the overwhelming amount of data generated by the numerical simulations. In order to extract physical information in a succinct and transparent manner, one may define a version of gravitational field lines and field strength using spatial projections of the Weyl curvature tensor. Introduction, investigation and utilization of these quantities will constitute the main content in Chapters 3 through 6.

For the last two chapters, we turn to the analytical study of a simpler dynamical spacetime, namely a perturbed Kerr black hole. We will introduce in Chapter 7 a new analytical approximation to the quasi-normal mode (QNM) frequencies, and relate various properties of these modes to wave packets traveling on unstable photon orbits around the black hole. In Chapter 8, we study a bifurcation in the QNM spectrum as the spin of the black hole a approaches extremality.

Control of dynamical systems with temporal logic specifications

This thesis is motivated by safety-critical applications involving autonomous air, ground, and space vehicles carrying out complex tasks in uncertain and adversarial environments. We use temporal logic as a language to formally specify complex tasks and system properties. Temporal logic specifications generalize the classical notions of stability and reachability that are studied in the control and hybrid systems communities. Given a system model and a formal task specification, the goal is to automatically synthesize a control policy for the system that ensures that the system satisfies the specification. This thesis presents novel control policy synthesis algorithms for optimal and robust control of dynamical systems with temporal logic specifications. Furthermore, it introduces algorithms that are efficient and extend to high-dimensional dynamical systems.

The first contribution of this thesis is the generalization of a classical linear temporal logic (LTL) control synthesis approach to optimal and robust control. We show how we can extend automata-based synthesis techniques for discrete abstractions of dynamical systems to create optimal and robust controllers that are guaranteed to satisfy an LTL specification. Such optimal and robust controllers can be computed at little extra computational cost compared to computing a feasible controller.

The second contribution of this thesis addresses the scalability of control synthesis with LTL specifications. A major limitation of the standard automaton-based approach for control with LTL specifications is that the automaton might be doubly-exponential in the size of the LTL specification. We introduce a fragment of LTL for which one can compute feasible control policies in time polynomial in the size of the system and specification. Additionally, we show how to compute optimal control policies for a variety of cost functions, and identify interesting cases when this can be done in polynomial time. These techniques are particularly relevant for online control, as one can guarantee that a feasible solution can be found quickly, and then iteratively improve on the quality as time permits.

The final contribution of this thesis is a set of algorithms for computing feasible trajectories for high-dimensional, nonlinear systems with LTL specifications. These algorithms avoid a potentially computationally-expensive process of computing a discrete abstraction, and instead compute directly on the system's continuous state space. The first method uses an automaton representing the specification to directly encode a series of constrained-reachability subproblems, which can be solved in a modular fashion by using standard techniques. The second method encodes an LTL formula as mixed-integer linear programming constraints on the dynamical system. We demonstrate these approaches with numerical experiments on temporal logic motion planning problems with high-dimensional (10+ states) continuous systems.

Dynamical stability of nascent neutron stars

This thesis presents a study of the dynamical stability of nascent neutron stars resulting from the accretion induced collapse of rapidly rotating white dwarfs.

Chapter 2 and part of Chapter 3 study the equilibrium models for these neutron stars. They are constructed by assuming that the neutron stars have the same masses, angular momenta, and specific angular momentum distributions as the pre-collapse white dwarfs. If the pre-collapse white dwarf is rapidly rotating, the collapsed object will contain a high density central core of size about 20 km, surrounded by a massive accretion torus extending to hundreds of kilometers from the rotation axis. The ratio of the rotational kinetic energy to gravitational binding energy, β, of these neutron stars is all found to be less than 0.27.

Chapter 3 studies the dynamical stability of these neutron stars by numerically evolving the linearized hydrodynamical equations. A dynamical bar-mode instability is observed when the β of the star is greater than the critical value β_d ≈ 0.25. It is expected that the unstable mode will persist until a substantial amount of angular momentum is carried away by gravitational radiation. The detectability of these sources is studied and it is estimated that LIGO II is unlikely to detect them unless the event rate is greater than 10^-6/year/galaxy.

All the calculations on the structure and stability of the neutron stars in Chapters 2 and 3 are carried out using Newtonian hydrodynamics and gravity. Chapter 4 studies the relativistic effects on the structure of these neutron stars. New techniques are developed and used to construct neutron star models to the first post-Newtonian (1PN) order. The structures of the 1PN models are qualitatively similar to the corresponding Newtonian models, but the values of β are somewhat smaller. The maximum β for these 1PN neutron stars is found to be 0.24, which is 8% smaller than the Newtonian result (0.26). However, relativistic effects will also change the critical value β_d. A detailed post-Newtonian stability analysis has yet to be carried out to study the relativistic effects on the dynamical stability of these neutron stars.