Miracle-dz/UniFAR-FTUs huggingface dataset:
A Homozygous IER3IP1 Mutation Causes Microcephaly With Simplified Gyral Pattern, Epilepsy, and Permanent Neonatal Diabetes Syndrome (MEDS)

Wolcott–Rallison syndrome (WRS) and the recently delineated microcephaly with simplified gyration, epilepsy, and permanent neonatal diabetes syndrome (MEDS) are clinically overlapping autosomal recessive disorders characterized by early onset diabetes, skeletal defects, and growth retardation. While liver and renal symptoms are more severe in WRS, neurodevelopmental characteristics are more pronounced in MEDS patients, in which microcephaly and uncontrolled epilepsy are uniformly present. Mutations in the EIF2AK3 gene were described in patients with WRS and defects in this gene lead to increased susceptibility to apoptotic cell death. Mutations in IER3IP1 have been reported in patients with MEDS and similarly, loss of activity results in apoptosis of neurons and pancreatic beta cells in patients. Here we report on a homozygous mutation of the IER3IP1 gene in four patients from two unrelated consanguineous Egyptian families presenting with MEDS who display burst suppression patterns on EEG. All patients presented with mildly elevated liver enzymes, microalbuminuria, and skeletal changes such as scoliosis and osteopenia, leading to repeated bone fractures. We expand the phenotypic spectrum of MEDS caused by IER3IP1 gene mutations and propose that WRS and MEDS are overlapping clinical syndromes, displaying significant gene‐dependent clinical variability. © 2012 Wiley Periodicals, Inc.
Non-cooperative games with preplay negotiations

We consider an extension of strategic normal form games with a phase of negotiations before the actual play of the game, where players can make binding oers for transfer of utilities to other players after the play of the game, in order to provide additional incentives for each other to play designated strategies. The enforcement of such oers is conditional on the recipients playing the specied strategies and they eect transformations of the payo matrix of the game by accordingly transferring payos between players. Players can exchange series of such oers in a preplay negotiation game in an extensive form. We introduce and analyze solution concepts for normal form games with such preplay oers under various assumptions for the preplay negotiation phase and obtain results for existence of ecient negotiation strategies of the players.
On region for fidelities of 1 − 3 universal quantum cloner

Piotr Ćwikliński1,3,5, Michał Horodecki2 and Michał Studziński2,4 1 Faculty of Applied Physics and Mathematics, Gdańsk University of Technology, 80-233 Gdańsk, Poland 2 Institute of Theoretical Physics and Astrophysics, University of Gdańsk, 80-952 Gdańsk, Poland 3 School of Science and Technology, Physics Division, University of Camerino, I-62032 Camerino, Italy 4 ICFO-Institut de Ciencies Fotoniques, Mediterranean Technology Park, 08860 Castelldefels (Barcelona), Spain 5 Institute for Quantum Information, RWTH Aachen University, D-52056 Aachen, Germany (Dated: January 31, 2012)
EFFECT OF PERCEIVED ORGANIZATIONAL SUPPORT ON ORGANIZATIONAL SILENCE AND TASK PERFORMANCE: A STUDY ON ACADEMICIANS

This study examines the effect of organizational support on employee silence and task performance. Particularly, the study probes the relationship between perceived organizational support and employee silence and it aims to reveal the effect of organizational support on task performance. Research data is collected from 502 academicians working in Turkish universities. Exploratory factor analyses, correlation and regression analyses are performed on the data. Data analyses revealed that, there is a negative relationship between perceived organizational support and both acquiescent silence and defensive silence, while there is a positive relationship between perceived organizational support and pro-social silence. Further, it is found that acquiescent silence and defensive silence have significantly negative effects on task performance, while pro-social silence exerts a statistically significant positive effect on task performance. Finally, perceived organizational support is found to exert a statistically significant positive effect on task performance. Research and managerial implications of these findings are discussed in detail.
Comparison of cerebral blood flow and structural penumbras in relation to white matter hyperintensities: A multi-modal magnetic resonance imaging study

Normal-appearing white matter (NAWM) surrounding WMHs is associated with decreased structural integrity and perfusion, increased risk of WMH growth, and is referred to as the WMH penumbra. Studies comparing structural and cerebral blood flow (CBF) penumbras within the same individuals are lacking, however, and would facilitate our understanding of mechanisms resulting in WM damage. This study aimed to compare both CBF and structural WMH penumbras in non-demented aging. Eighty-two elderly volunteers underwent 3T-MRI including fluid attenuated inversion recovery (FLAIR), pulsed arterial spin labeling and diffusion tensor imaging (DTI). A NAWM layer mask was generated for periventricular and deep WMHs. Mean CBF, DTI-fractional anisotropy (DTI-FA), DTI-mean diffusivity (DTI-MD) and FLAIR intensity for WMHs and its corresponding NAWM layer masks were computed and compared against its mean within total brain NAWM using mixed effects models. For both periventricular and deep WMHs, DTI-FA, DTI-MD and FLAIR intensity changes extended 2-9 mm surrounding WMHs (p ≤ 0.05), while CBF changes extended 13-14 mm (p ≤ 0.05). The CBF penumbra is more extensive than structural penumbras in relation to WMHs and includes WM tissue both with and without microstructural changes. Findings implicate CBF as a potential target for the prevention of both micro and macro structural WM damage.
Volatility Derivatives in Market Models with Jumps

It is well documented that a model for the underlying asset price process that seeks to capture the behaviour of the market prices of vanilla options needs to exhibit both diffusion and jump features. In this paper we assume that the asset price process S is Markov with cadlag paths and propose a scheme for computing the law of the realized variance of the log returns accrued while the asset was trading in a prespecified corridor. We thus obtain an algorithm for pricing and hedging volatility derivatives and derivatives on the corridor-realized variance in such a market. The class of models under consideration is large, as it encompasses jump-diffusion and Levy processes. We prove the weak convergence of the scheme and describe in detail the implementation of the algorithm in the characteristic cases where S is a CEV process (continuous trajectories), a variance gamma process (jumps with independent increments) or an infinite activity jump-diffusion (discontinuous trajectories with dependent increments).
Molecular Characterization of Podoviral Bacteriophages Virulent for Clostridium perfringens and Their Comparison with Members of the Picovirinae

Clostridium perfringens is a Gram-positive, spore-forming anaerobic bacterium responsible for human food-borne disease as well as non-food-borne human, animal and poultry diseases. Because bacteriophages or their gene products could be applied to control bacterial diseases in a species-specific manner, they are potential important alternatives to antibiotics. Consequently, poultry intestinal material, soil, sewage and poultry processing drainage water were screened for virulent bacteriophages that lysed C. perfringens. Two bacteriophages, designated ΦCPV4 and ΦZP2, were isolated in the Moscow Region of the Russian Federation while another closely related virus, named ΦCP7R, was isolated in the southeastern USA. The viruses were identified as members of the order Caudovirales in the family Podoviridae with short, non-contractile tails of the C1 morphotype. The genomes of the three bacteriophages were 17.972, 18.078 and 18.397 kbp respectively; encoding twenty-six to twenty-eight ORF's with inverted terminal repeats and an average GC content of 34.6%. Structural proteins identified by mass spectrometry in the purified ΦCP7R virion included a pre-neck/appendage with putative lyase activity, major head, tail, connector/upper collar, lower collar and a structural protein with putative lysozyme-peptidase activity. All three podoviral bacteriophage genomes encoded a predicted N-acetylmuramoyl-L-alanine amidase and a putative stage V sporulation protein. Each putative amidase contained a predicted bacterial SH3 domain at the C-terminal end of the protein, presumably involved with binding the C. perfringens cell wall. The predicted DNA polymerase type B protein sequences were closely related to other members of the Podoviridae including Bacillus phage Φ29. Whole-genome comparisons supported this relationship, but also indicated that the Russian and USA viruses may be unique members of the sub-family Picovirinae.
Exploring the Traumatic Experiences of Women Living with HIV: Using the Life History Calendar

ABSTRACT Trauma exposure can result in negative health outcomes, making it important to accurately identify the trajectory of traumatic experiences. The purpose of this study was to examine the traumatic experiences of women living with HIV using the Life History Calendar in order to identify common factors that may have accounted for either risk or resiliency outcomes. Individual interviews were conducted with 30 women living in a major US city. Most participants (73%) reported experiencing childhood sexual abuse and more than one trauma. We identified several important themes in the lives of HIV positive women: chaotic upbringing in violent and dysfunctional homes, exposure to interpersonal violence (physical, sexual, and emotional abuse, intimate partner violence), substance abuse, and criminal involvement. Family and social support was identified as positive factors in trauma recovery.
On the inference of average precision from score distributions

Modelling the document scores returned from an IR system for a given query using parameterised score distributions is an area of research that has become more popular in recent years. Score distribution (SD) models are useful for a number of IR tasks. These include data fusion, query performance prediction, determining thresholds in filtering applications, and tasks in the area of distributed retrieval. The inference of performance metrics, such as average precision, from these SD models is an important consideration. In this paper, we study the accuracy of a number of methods of inferring average precision from an SD model.
Handling Events During Business Process Execution: An Empirical Test

Declarative approaches have been proposed to counter the limited exibility of the imperative modeling paradigm, but little empir- ical insights are available into their actual strengths and use. Our pre- vious work has shown that end-users can eectively model and execute a declarative process with a considerable spectrum of constraints. How- ever, what is still unclear is how eectively end-users are able to handle unforeseen events that can occur during run-time. This paper describes the design, execution, and results of a controlled experiment in which subjects have to execute a process with varying levels of events. The results suggest that our subjects, while being able to eectively handle constraints, have diculties to handle unforeseen events during run-time. This outcome supports the argument that declarative processes require more experienced people, especially when dealing with unforeseen events.
Up and down buses activity recognition using smartphone accelerometer

Personal daily travel safety has received increasing attention in recent years. This paper aims at using smartphone accelerometer to recognize human activities, especially up and down buses. By using Matlab and Weka software platform and smart phone accelerometer, we verified the feasibility of using phone accelerometer to identify activities with a high accuracy. It can reach to 95.3% when using KNN classifier. This fruitful work gives explanation of using public resources to deal with personal daily travel safety, and can benefit from low power consumption.
Constructing Phylogenetic Trees Using Maximum Likelihood

Maximum likelihood methods are used to estimate the phylogenetic trees for a set of species. The probabilities of DNA base substitutions are modeled by continuous-time Markov chains. We use these probabilities to estimate which DNA bases would produce the data that we observe. The topology of the tree is also determined using base substitution probabilities and conditional likelihoods. Felsenstein [2] introduced this method of finding an estimate for the maximum likelihood phylogenetic tree. We will explore this method in detail in this paper.
Upper Bounds on Quantum Query Complexity Inspired by the Elitzur--Vaidman Bomb Tester

Inspired by the Elitzur-Vaidman bomb testing problem [arXiv:hep-th/9305002], we introduce a new query complexity model, which we call bomb query complexity $B(f)$. We investigate its relationship with the usual quantum query complexity $Q(f)$, and show that $B(f)=\Theta(Q(f)^2)$. This result gives a new method to upper bound the quantum query complexity: we give a method of finding bomb query algorithms from classical algorithms, which then provide nonconstructive upper bounds on $Q(f)=\Theta(\sqrt{B(f)})$. We subsequently were able to give explicit quantum algorithms matching our upper bound method. We apply this method on the single-source shortest paths problem on unweighted graphs, obtaining an algorithm with $O(n^{1.5})$ quantum query complexity, improving the best known algorithm of $O(n^{1.5}\sqrt{\log n})$ [arXiv:quant-ph/0606127]. Applying this method to the maximum bipartite matching problem gives an $O(n^{1.75})$ algorithm, improving the best known trivial $O(n^2)$ upper bound.
El "High school personality questionnaire"

El objetivo central de esta investigacion consiste en el analisis del perfil y de la estructura factorial de la personalidad a nivel adolescente y de su consistencia intercultural. El proyecto se ejecuta en dos fases. En la primera, a nivel teorico, se realiza un estudio del cuestionario High School Personality Questionnaire asi como de las investigaciones realizadas posteriormente en los campos educativo, clinico, psicosocial y de la orientacion profesional. En la segunda, de caracter empirico, se lleva a cabo un analisis factorial de los rasgos que definen la personalidad y la subsiguiente comparacion intercultural de los resultados obtenidos. El estudio teorico comprende el analisis critico de los siguientes aspectos: a) descripcion y definicion de los rasgos de personalidad medidos por el cuestionario, b) procedimiento metodologico seguido en su elaboracion, c) estructura, propiedades psicometricas y normas de administracion y correccion del cuestionario, d) configuracion de la personalidad adolescente a nivel secundario y e) analisis de investigaciones. Finalmente se emite un juicio critico a partir del analisis anterior y de la revision bibliografica consultada. El estudio empirico consiste en un analisis factorial sobre una muestra de 4459 sujetos espanoles con el fin de obtener la estructura factorial de la personalidad, a este nivel de edad. Se recurre a variadas tecnicas de obtencion de factores -componentes principales y factor principal-, de rotacion -ortogonal y oblicua- y se delimita el numero de factores por medio del scree test. Finalmente se comparan los resultados obtenidos con los de investigaciones paralelas realizadas en otras culturas observandose su similaridad y consistencia.
Inspiratory High Frequency Airway Oscillation Attenuates Resistive Loaded Dyspnea and Modulates Respiratory Function in Young Healthy Individuals

Direct chest-wall percussion can reduce breathlessness in Chronic Obstructive Pulmonary Disease and respiratory function may be improved, in health and disease, by respiratory muscle training (RMT). We tested whether high-frequency airway oscillation (HFAO), a novel form of airflow oscillation generation can modulate induced dyspnoea and respiratory strength and/or patterns following 5 weeks of HFAO training (n = 20) compared to a SHAM-RMT (conventional flow-resistive RMT) device (n = 15) in healthy volunteers (13 males; aged 20–36 yrs). HFAO causes oscillations with peak-to-peak amplitude of 1 cm H2O, whereas the SHAM-RMT device was identical but created no pressure oscillation. Respiratory function, dyspnoea and ventilation during 3 minutes of spontaneous resting ventilation, 1 minute of maximal voluntary hyperventilation and 1 minute breathing against a moderate inspiratory resistance, were compared PRE and POST 5-weeks of training (2×30 breaths at 70% peak flow, 5 days a week). Training significantly reduced NRS dyspnoea scores during resistive loaded ventilation, both in the HFAO (p = 0.003) and SHAM-RMT (p = 0.005) groups. Maximum inspiratory static pressure (cm H2O) was significantly increased by HFAO training (vs. PRE; p<0.001). Maximum inspiratory dynamic pressure was increased by training in both the HFAO (vs. PRE; p<0.001) and SHAM-RMT (vs. PRE; p = 0.021) groups. Peak inspiratory flow rate (L.s−1) achieved during the maximum inspiratory dynamic pressure manoeuvre increased significantly POST (vs. PRE; p = 0.001) in the HFAO group only. HFAO reduced inspiratory resistive loading–induced dyspnoea and augments static and dynamic maximal respiratory manoeuvre performance in excess of flow-resistive IMT (SHAM-RMT) in healthy individuals without the respiratory discomfort associated with RMT.
Season and Weather Effects on Travel-Related Mood and Travel Satisfaction

This study examines the effects of season and weather on mood (valence and activation) and travel satisfaction (measured by the Satisfaction with Travel Scale). Analyses are presented of 562 time-sampled morning commutes to work made by 363 randomly sampled people in three different Swedish cities asking them to use smartphones to report their mood in their home before and directly after the commutes. These reports as well as satisfaction with the commute obtained in summer and winter are linked to weather data and analyzed by means of fixed-effects regression analyses. The results reveal main effects of weather (temperature and precipitation) on mood and travel satisfaction (temperature, sunshine, precipitation, and wind speed). The effects of weather on mood and travel satisfaction differ depending on travel mode. Temperature leads to a more positive mood, wind leads to higher activation for public transport users, and sunshine leads to a more negative mood for cyclists and pedestrians. Sunshine and higher temperatures make travel more relaxed although not for cycling and walking, and rain and snow lead to a higher cognitive assessed quality of travel.
PSynUTC - Evaluation of a High Precision Time Synchronization Prototype System for Ethernet LANs

This article presents an overview and some evaluation results of our PSynUTC 1 prototype system for GPS time distribution and time synchronization in Ethernetbased LANs. PSynUTC does not need dedicated GPS receivers at every computing node but uses ordinary data packets for disseminating time information. High accuracy is achieved by combining (1) hardware packet timestamping at the network interface of nodes and switches, (2) high-resolution, high-frequency adder-based clocks with superior adjustment capabilities, and (3) clock rate synchronization algorithms compensating typical TCXO drifts. Our technology can be employed with any network controller chipset that supports the media-independent interface (MII) standard. Moreover, standard device drivers and protocol stacks can be used without any change. Our evaluation results show that PSynUTC will achieve a worst case synchronization accuracy in the 100 ns range, which is an improvement of at least 4 orders of magnitude over conventional software-based approaches like NTP.
Controversial Users Demand Local Trust Metrics: An Experimental Study on Epinions.com Community

In today's connected world it is possible and very common to interact with unknown people, whose reliability is unknown. Trust Metrics are a recently proposed technique for answering questions such as "Should I trust this user? ". However, most of the current research assumes that every user has a global quality score and that the goal of the technique is just to predict this correct value. We show, on data from a real and large user community, Epinions.com, that such an assumption is not realistic because there is a significant portion of what we call controversial users, users who are trusted and distrusted by many. A global agreement about the trustworthiness value of these users cannot exist. We argue, using computational experiments, that the existence of controversial users (a normal phenomena in societies) demands Local Trust Metrics, techniques able to predict the trustworthiness of an user in a personalized way, depending on the very personal view of the judging user.
Detectability of the Gravitational Lensing Effect on the Two-Point Correlation Function of Hot Spots in Cosmic Microwave Background Maps

We present quantitative investigations of the weak-lensing effect on the two-point correlation functions of local maxima (hot spots), ξpk-pk(θ), in cosmic microwave background (CMB) maps. The lensing effect depends on the projected mass fluctuations between today and redshift zrec ≈ 1100. If we adopt the Gaussian assumption for the primordial temperature fluctuations field, the peak statistics can provide additional information about the intrinsic distribution of hot spots: that those pairs have some characteristic separation angles. The weak lensing then redistributes hot spots in the observed CMB maps from the intrinsic distribution and consequently imprints non-Gaussian signatures onto ξpk-pk(θ). In particular, since the intrinsic ξpk-pk(θ) has a pronounced depression feature around the angular scale of θ ≈ 70′ for a flat universe, the weak lensing induces a large smoothing at that scale. We show that the lensing signature therefore has an advantage for effectively probing mass fluctuations with large wavelength modes around λ ≈ 50 h-1 Mpc. To reveal the detectability, we performed numerical experiments with specifications of the Microwave Anisotropy Probe (MAP) and Planck Surveyor, including the instrumental effects of beam smoothing and detector noise. We find that our method can successfully provide constraints on the amplitude of the mass fluctuations and cosmological parameters in a flat universe with and without the cosmological constant, provided that we use maps with the 65% sky coverage expected from Planck.
Regularization in relevance learning vector quantization using l1-norms

We propose in this contribution a method for l one regularization in prototype based relevance learning vector quantization (LVQ) for sparse relevance profiles. Sparse relevance profiles in hyperspectral data analysis fade down those spectral bands which are not necessary for classification. In particular, we consider the sparsity in the relevance profile enforced by LASSO optimization. The latter one is obtained by a gradient learning scheme using a differentiable parametrized approximation of the $l_{1}$-norm, which has an upper error bound. We extend this regularization idea also to the matrix learning variant of LVQ as the natural generalization of relevance learning.