Miracle-dz/UniFAR-FTUs huggingface dataset:
Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients

Here, we report two novel GUCA1A (the gene for guanylate cyclase activating protein 1) mutations identified in unrelated Spanish families affected by autosomal dominant retinal degeneration (adRD) with cone and rod involvement. All patients from a three-generation adRD pedigree underwent detailed ophthalmic evaluation. Total genome scan using single-nucleotide polymorphisms and then the linkage analysis were undertaken on the pedigree. Haplotype analysis revealed a 55.37 Mb genomic interval cosegregating with the disease phenotype on chromosome 6p21.31-q15. Mutation screening of positional candidate genes found a heterozygous transition c.250C>T in exon 4 of GUCA1A, corresponding to a novel mutation p.L84F. A second missense mutation, c.320T>C (p.I107T), was detected by screening of the gene in a Spanish patients cohort. Using bioinformatics approach, we predicted that either haploinsufficiency or dominant-negative effect accompanied by creation of a novel function for the mutant protein is a possible mechanism of the disease due to c.250C>T and c.320T>C. Although additional functional studies are required, our data in relation to the c.250C>T mutation open the possibility that transacting factors binding to de novo created recognition site resulting in formation of aberrant splicing variant is a disease model which may be more widespread than previously recognized as a mechanism causing inherited RD.
Performance Enhancement of Wireless Datalink Modem using Channel Coding

In this paper the model having D8PSK modulation applied by channel coding of Convolution Turbo Code (CTC) was designed and analyzed to improve the performances of wireless communication system for data link between ground equipment and aircraft. The suggested modem was differential 8PSK modulation system and channel coding of Convolution Turbo Code (CTC) system, and TDMA system was used for transmission. The hardware was embodied for the test and done by using 2 FPGA’s and DSP. The function of FPGA has the one of modulation and demodulation of signal, acquisition and maintaining of TDMA synchronization and generating timing signal. As the test results, it was recognized that the transmission rate can be maintained though the code rate is increased based on 28.8 Kbps and the performance of SNR gets 15dB when BER performance criteria is 10 -6 . And, it was recognized that the performance of BLER satisfies 10 -4 based on BER 10 -6 . And, it was also recognized that the performance of SNB was improved by 4dB comparing with the case which channel coding was not used from the test results.
Cyclic Cramér-Rao-type bounds for periodic parameter estimation

Cyclic lower bounds establish fundamental limits in parametric statistical models with a periodic nature. Non-Bayesian lower bounds on the mean-cyclic-error (MCE) of any cyclic-unbiased estimator, in the Lehmann sense, are useful for performance analysis and system design in periodic estimation. In this paper, we derive two cyclic versions of the Cramér-Rao bound (CRB) based on Mardia's circular information inequality. The proposed cyclic CRBs are lower bounds on the MCE of any cyclic-unbiased estimator. One of these bounds has been recently developed by using the cyclic Hammersley-Chapman-Robbins lower bounds on the MCE. The derivations presented in this paper relates between the cyclic CRB and existing results from directional statistics on manifolds. The properties of the proposed cyclic CRBs are examined. In particular, it is shown that the cyclic CRBs are always lower than the convectional CRB and that the two cyclic CRBs are asymptotically achievable by the performance of the maximum likelihood (ML) estimator. The proposed cyclic CRBs and the performance of the ML estimator are compared in terms of MCE in estimation of the mean of von Mises distributed measurements and for phase estimation with additive white Gaussian noise (AWGN).
Psychiatric Co-morbidity and Efficacy of Mirtazapine Treatment in Young Subjects With Chronic or Cyclic Vomiting Syndromes: A Case Series

The aim of this case report was to evaluate the psychiatric co-morbidity and efficacy of mirtazapine treatment in young subjects with chronic or cyclic vomiting syndromes. This is a case series of 8 young subjects (age range of 6-16 years, 11.12 ± 3.52 years) who were referred or consulted to child psychiatry department. They were referred or consulted by pediatric gastroenterology or surgery departments for the presence of non-remitting and medically unexplained vomiting. They were investigated for co-morbid psychiatric disorders using a structured psychiatric interview. An open trial of mirtazapine was conducted for the treatment and/or prevention of vomiting. Primary outcome measure was Clinical Global Impression-Improvement scale. Subjects were diagnosed with chronic (n = 5) or cyclic (n = 3) vomiting syndromes. Duration of vomiting ranged from 6 months to 10 years (3.5 ± 3.2 years). All subjects received multiple psychiatric diagnoses with anxiety disorders being the most frequent. Maximum mirtazapine dosage was 7.5-30 mg/day (16.00 ± 6.16 mg/day). Three subjects showed complete remission and 5 subjects showed much to very much improvement in vomiting. Most frequent side effects were increased appetite, weight gain and sedation. Young subjects with chronic or cyclic vomiting may frequently suffer anxiety and/or depressive symptoms or disorders. Mirtazapine could be an effective treatment option for the treatment of vomiting and co-morbid anxiety or depressive disorders in these subjects. More systematic research are needed on this topic.
BLIND SOURCE SEPARATION TECHNIQUES FOR MODAL ANALYSIS: EXPERIMENTAL DEMONSTRATION

The present study carries out output-only modal analysis using two blind source separation (BSS) techniques, namely independent component analysis and second-order based identification. It is shown under which circumstances the normal coordinates of the vibration modes may be interpreted as virtual sources, which renders the application of these BSS techniques possible. To support the theoretical findings, numerical experiments are first carried out using a discrete system of three masses. Secondly the method is applied to a real-life structure which is a blade extracted from a turbojet engine stator. The results are compared with the stochastic subspace identification method.
Power grid simulation via efficient sampling-based sensitivity analysis and hierarchical symbolic relaxation

On-chip supply networks are playing an increasingly important role for modern nanometer-scale designs. However, the ever growing sizes of power grids make the analysis problem extremely difficult thereby introducing severe challenges in design and optimization. The inherent analysis complexity calls for innovations in simulation techniques that must provide appropriate accuracy, efficiency as well as the tradeoff thereof to aid design verification and optimization. In this paper, we first present a sampling-based sensitivity analysis by employing the notation of importance sampling in a Monte Carlo based circuit simulation framework. This technique allows the extraction of multi-parameter sensitivities for the node voltages of interest in the same Monte Carlo runs that are used for computing the nominal voltage values. For more efficient nonstructured whole-grid solution approaches, we further introduce a new direct solution method by embedding symbolic relaxation steps in a hierarchical fashion. As a direct method, the proposed hierarchical symbolic relaxation is suitable to both DC and transient analyses. Circuit examples are included to demonstrate the efficacy of the proposed techniques.
ELT in Vietnam general and tertiary education from second language education perspectives

Abstract: The report attempts to outline the current situation of ELT in general and tertiary education in Vietnam with comments from second language education perspectives. The main contents include:- The gains and losses of ELT in general and tertiary education inVietnamduring the past few years. - The key current situational factors that affect ELT in general and tertiary education inVietnamsuch as language education policy, curriculum development and implementation with comments based on the common principles of second language education. - Suggestions for how to address main questions relating to the current ELT inVietnam.Keywords: English teaching, ELT in Vietnam, general and tertiary education, second language education.
The Future Trend of MIMO Technology in WiMAX

Recently, an IEEE 802.16-2009 Standard has been approved as new WiMax standard. This revision supersedes of IEEE 802.16-2004 and 802.16e-2005 [1]. This revision introduces new features that incorporate MIMO and beamforming technique that significantly improve system coverage and realibility comapare to previous standard [2], especially against fadding condition. This feature is also being advanced for the next WiMAX based on IEEE 802.16j and 802.16m [3]. This paper presents the current MIMO and beamforming techniques and their performances that are used in WiMAX 802.16-2009. Afterward, this paper also discuss about next advancement of beamforming techniques in WiMAX IEEE 802.16j and 802.16m.
Combined prosody and candidate unit selections for corpus-based text-to-speech systems

Traditionally, corpus-based text-to-speech systems generate the speech signal as the result of a two-staged process. First, the target prosody is determined and, after that, a set of speech units that minimize a cost function is selected. Once the target prosody is selected, no alternative prosodic information is generally considered, even when appropriated speech units are not found. In this paper we propose an alternative technique that takes into account several possible intonation contours, selecting the one that minimizes the cost function. In this method, both the candidate pitch contours and the candidate speech units are obtained by means of a unit selection process.
Matrix completion via max-norm constrained optimization

Matrix completion has been well studied under the uniform sampling model and the trace-norm regularized methods perform well both theoretically and numerically in such a setting. However, the uniform sampling model is unrealistic for a range of applications and the standard trace-norm relaxation can behave very poorly when the underlying sampling scheme is non-uniform. In this paper we propose and analyze a max-norm constrained empirical risk minimization method for noisy matrix completion under a general sampling model. The optimal rate of convergence is established under the Frobenius norm loss in the context of approximately low-rank matrix reconstruction. It is shown that the max-norm constrained method is minimax rate-optimal and yields a unified and robust approximate recovery guarantee, with respect to the sampling distributions. The computational effectiveness of this method is also discussed, based on first-order algorithms for solving convex optimizations involving max-norm regularization.
Exploring Performance-Based Music Attributes for Stylometric Analysis

— Music Information Retrieval (MIR) and modern data mining techniques are applied to identify style markers in midi music for stylometric analysis and author attribution. Over 100 attributes are extracted from a library of 2830 songs then mined using supervised learning data mining techniques. Two attributes are identified that provide high informational gain. These attributes are then used as style markers to predict authorship. Using these style markers the authors are able to correctly distinguish songs written by the Beatles from those that were not with a precision and accuracy of over 98 per cent. The identification of these style markers as well as the architecture for this research provides a foundation for future research in musical stylometry.
Whipple's Disease: Our Own Experience and Review of the Literature

Whipple's disease is a chronic infectious systemic disease caused by the bacterium Tropheryma whipplei. Nondeforming arthritis is frequently an initial complaint. Gastrointestinal and general symptoms include marked diarrhoea (with serious malabsorption), abdominal pain, prominent weight loss, and low-grade fever. Possible neurologic symptoms (up to 20%) might be associated with worse prognosis. Diagnosis is based on the clinical picture and small intestinal histology revealing foamy macrophages containing periodic-acid-Schiff- (PAS-) positive material. Long-term (up to one year) antibiotic therapy provides a favourable outcome in the vast majority of cases. This paper provides review of the literature and an analysis of our 5 patients recorded within a 20-year period at a tertiary gastroenterology centre. Patients were treated using i.v. penicillin G or amoxicillin-clavulanic acid + i.v. gentamicin for two weeks, followed by p.o. doxycycline (100 mg per day) plus p.o. salazopyrine (3 g per day) for 1 year. Full remission was achieved in all our patients.
Peace vs. Privacy: Leveraging Conflicting Jurisdictions for Email Security

We introduce the paradigm of security through hostility: cloud-based service providers in conflicting jurisdictions are assumed to be non-cooperating, and are used for transmitting encrypted content and corresponding keys through separate but accessible channels among end-users from both jurisdictions. Such separation between content and key can enable effortless user-to-user encrypted communication without any user-managed keys. As an example use-case of this paradigm, we consider encrypted email, which is complicated by the requirement of balancing security and ease-of-use needs. For example, users cannot be expected to manage long-term keys (e.g., PGP key-pair), or understand crypto primitives. We design CherAmi by leveraging existing relationships between a sender and a receiver on an online social networking (OSN) site, and assuming users can use OSN and email providers that are hosted from hostile/non-cooperating jurisdictions. CherAmi can provide integrity, authentication and confidentiality guarantees for selected messages among OSN friends. A confidentiality-protected email is encrypted by a randomly-generated key, and the key is privately shared with the receiver via the OSN site. Our implementation consists of a Thunderbird add-on and a Twitter app; the add-on is available at: https://madiba.encs. concordia.ca/software.html. CherAmi is a client-end solution and does not require changes to email or OSN servers. In this paper, the focus of our discussion includes: the paradigm of security through hostility, and the design, implementation and security analysis of the proposed encrypted email solution. We acknowledge that a user study will be required to validate usability-related features of CherAmi.
Towards Aid by Generate and Solve Methodology: Application in the Problem of Coverage and Connectivity in Wireless Sensor Networks

The integrative collaboration of genetic algorithms and integer linear programming as specified by the Generate and Solve methodology tries to merge their strong points and has offered significant results when applied to wireless sensor networks domains. The Generate and Solve (GS) methodology is a hybrid approach that combines a metaheuristics component with an exact solver. GS has been recently introduced into the literature in order to solve the problem of dynamic coverage and connectivity in wireless sensor networks, showing promising results. The GS framework includes a metaheuristics engine (e.g., a genetic algorithm) that works as a generator of reduced instances of the original optimization problem, which are, in turn, formulated as mathematical programming problems and solved by an integer programming solver.
Specialization Slicing

This paper defines a new variant of program slicing, called specialization slicing, and presents an algorithm for the specialization-slicing problem that creates an optimal output slice. An algorithm for specialization slicing is polyvariant: for a given procedure р, the algorithm may create multiple specialized copies of р. In creating specialized procedures, the algorithm must decide for which patterns of formal parameters a given procedure should be specialized and which program elements should be included in each specialized procedure. We formalize the specialization-slicing problem as a partitioning problem on the elements of the possibly infinite unrolled program. To manipulate possibly infinite sets of program elements, the algorithm makes use of automata-theoretic techniques originally developed in the model-checking community. The algorithm returns a finite answer that is optimal (with respect to a criterion defined in the article). In particular, (i) each element replicated by the specialization-slicing algorithm provides information about specialized patterns of program behavior that are intrinsic to the program, and (ii) the answer is of minimal size (i.e., among all possible answers with property (i), there is no smaller one). The specialization-slicing algorithm provides a new way to create executable slices. Moreover, by combining specialization slicing with forward slicing, we obtain a method for removing unwanted features from a program. While it was previously known how to solve the feature-removal problem for single-procedure programs, it was not known how to solve it for programs with procedure calls.
Characterization of Adult Rat Astrocyte Cultures

Astrocytes, a major class of glial cells, regulate neurotransmitter systems, synaptic processing, ion homeostasis, antioxidant defenses and energy metabolism. Astrocyte cultures derived from rodent brains have been extensively used to characterize astrocytes' biochemical, pharmacological and morphological properties. The aims of this study were to develop a protocol for routine preparation and to characterize a primary astrocyte culture from the brains of adult (90 days old) Wistar rats. For this we used enzymatic digestion (trypsin and papain) and mechanical dissociation. Medium exchange occurred from 24 h after obtaining a culture and after, twice a week up to reach the confluence (around the 4th to 5th week). Under basal conditions, adult astrocytes presented a polygonal to fusiform and flat morphology. Furthermore, approximately 95% the cells were positive for the main glial markers, including GFAP, glutamate transporters, glutamine synthetase and S100B. Moreover, the astrocytes were able to take up glucose and glutamate. Adult astrocytes were also able to respond to acute H2O2 exposure, which led to an increase in reactive oxygen species (ROS) levels and a decrease in glutamate uptake. The antioxidant compound resveratrol was able to protect adult astrocytes from oxidative damage. A response of adult astrocytes to an inflammatory stimulus with LPS was also observed. Changes in the actin cytoskeleton were induced in stimulated astrocytes, most likely by a mechanism dependent on MAPK and Rho A signaling pathways. Taken together, these findings indicate that the culture model described in this study exhibits the biochemical and physiological properties of astrocytes and may be useful for elucidating the mechanisms related to the adult brain, exploring changes between neonatal and adult astrocytes, as well as investigating compounds involved in cytotoxicity and cytoprotection.
A controlled vocabulary for pathway entities and events

Entities involved in pathways and the events they participate in require descriptive and unambiguous names that are often not available in the literature or elsewhere. Reactome is a manually curated open-source resource of human pathways. It is accessible via a website, available as downloads in standard reusable formats and via Representational State Transfer (REST)-ful and Simple Object Access Protocol (SOAP) application programming interfaces (APIs). We have devised a controlled vocabulary (CV) that creates concise, unambiguous and unique names for reactions (pathway events) and all the molecular entities they involve. The CV could be reapplied in any situation where names are used for pathway entities and events. Adoption of this CV would significantly improve naming consistency and readability, with consequent benefits for searching and data mining within and between databases. Database URL: http://www.reactome. org
General self-efficacy and psychological resilience promote skill acquisition rate under psychological pressure

This study extends the limited body of research exploring the association between psychological resources and performance under pressure. It was anticipated that participants’ general self-efficacy and resilience would positively influence skill acquisition rate more under high pressure, than low pressure. Eighty-one undergraduate students (Mage = 22.93; SD = 7.53; 50.6% female) participated in a learning task: to fly a flight simulator. The within-subjects variable was the participant’s ability to steadily control the aircraft roll across six trials. Psychological pressure was manipulated between-subjects and general self-efficacy and resilience were measured moderator variables. Findings indicated that under high pressure, higher levels of general self-efficacy and perceived resilience predicted faster initial skill acquisition compared to those with lower levels of these resources. In contrast, in the low pressure condition, the skill acquisition rate was the same irrespective of psychological resources. This research highlights the importance of psychological resources in pressured training contexts.
Involute-Evolute Curve Couples in the Euclidean 4-Space

In this work, for regular involute-evolute curve couples, it is proven that evolute’s Frenet apparatus can be formed by involute’s apparatus in four dimensional Euclidean space when involute curve has constant Frenet curvatures. By this way, another orthonormal frame of the same space is obtained via the method expressed in [5]. Moreover, it is observed that evolute curve cannot be an inclined curve. In an analogous way, we use method of [6].
Identification of Genes Involved in Pseudomonas aeruginosa Biofilm-Specific Resistance to Antibiotics

Pseudomonas aeruginosa is a key opportunistic pathogen characterized by its biofilm formation ability and high-level multiple antibiotic resistance. By screening a library of random transposon insertion mutants with an increased biofilm-specifc antibiotic susceptibility, we previously identified 3 genes or operons of P. aeruginosa UCBPP-PA14 (ndvB, PA1875–1877 and tssC1) that do not affect biofilm formation but are involved in biofilm-specific antibiotic resistance. In this study, we demonstrate that PA0756–0757 (encoding a putative two-component regulatory system), PA2070 and PA5033 (encoding hypothetical proteins of unknown function) display increased expression in biofilm cells and also have a role in biofilm-specific antibiotic resistance. Furthermore, deletion of each of PA0756, PA2070 and PA5033 resulted in a significant reduction of lethality in Caenorhabditis elegans, indicating a role for these genes in both biofilm-specific antibiotic resistance and persistence in vivo. Together, these data suggest that these genes are potential targets for antimicrobial agents.