Miracle-dz/UniFAR-FTUs huggingface dataset:
Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism

Epidemiological studies have shown that about 43–86% of individuals with tuberous sclerosis complex have a pervasive developmental disorder similar to autism.1 Mutations in tuberous sclerosis genes TSC1 and TSC2 disrupt the phosphatidylinositol signalling pathway downstream of the insulin / insulin-like growth factor receptor in the control of cell growth.2–5 We investigated single nucleotide polymorphisms in three phosphatidylinositol signalling genes that map to consensus areas of linkage to autism, using 196 trios from the Autism Genetics Resource Exchange. Polymorphisms in inositol polyphosphate-1-phosphatase (INPP1) at the 2q32, γ catalytic subunit of phosphatidyl 3-OH-kinase gene (PIK3CG) at 7q22, and TSC2 gene at 16p13.3, were investigated for association with autistic disorder. Transmission disequilibrium tests and haplotype analyses demonstrated a nominally positive association of polymorphisms in INPP1, PIK3CG, and TSC2 genes with autism, suggesting that phosphatidylinositol signalling may have a role in susceptibility to autism. Autism spectrum disorders [MIM 209850], which include autism, Asperger’s syndrome, and pervasive developmental disorder not otherwise specified, are characterised by impairments in communications and social interactions and the presence of stereotyped behaviours. Family, twin, and linkage data suggest that inheritance of autism is complex.6–8 Latent class analysis of twin and family data suggests that between two to 10 loci may act epistatically,6 although more than 15 loci have been suggested.9 Recent genome screening studies found that many regions distributed over many chromosomes had a multipoint maximum lod score greater than one.9–14 Several studies found evidence of linkage in overlapping regions, which are likely to represent true linkage findings. The most consistent results are for regions on chromosome 7q, 2q and 16p13.3. 11,15–17 The 16p13.3 region harbours the locus for TSC2 gene.18 Autism occurs in a number of genetic conditions, such as fragile X,19,20 phenylketonuria,21 tuberous …
Demand Based Test Case Generation for Object Oriented System

The object-oriented (OO) systems have emerged as the core systems in every field. Test case generation (TCG) for these systems has been identified as one of the crucial activity of software testing. Many researchers have been working in the area of TCG to raise the quality and effectiveness of the OO software systems. It is impossible to test the system exhaustively because of limitations of time, monetary cost and human efforts involved in the process of generation of all test cases. Presently, there is no adequate method that considers the contextual demand for the generation of test cases. Therefore, this study proposes a contextual demand-based TCG for OO systems using test paths or scenarios of sequence diagrams (SDs). Unlike the existing approaches, the proposed method considers flexible approach for generation of test cases as per the contextual demand. For the implementation of the proposed technique, two case studies, i.e. the sample SD and the SD of automated teller machine (ATM) system, have been considered. The evaluation of the proposed method showed the significant consideration of the user demand for generating the final test cases.
Type 1 plasminogen activator inhibitor as a common risk factor for cancer and ischaemic vascular disease: the EPICOR study

Objectives We examined the association of plasminogen activator inhibitor-1 (PAI-1) levels with colorectal cancer, breast cancer, acute coronary syndrome (ACS) and ischaemic stroke. Design Nested case-cohort study. Setting The European Prospective Investigation into Cancer and Nutrition-Italy cohort. Participants A centre-stratified random sample of 850 participants (286 men, 564 women) was selected as subcohort and compared with 303 colorectal cancers, 617 breast cancers, 688 ACS and 158 ischaemic strokes, in a mean follow-up of 9.11 years. Main outcomes and measures Primary incident cases of colon cancer, breast cancer, ACS and ischaemic stroke. PAI-1 levels were measured in citrated plasma by ELISA. HR and 95% CI, adjusted by relevant confounders and stratified by centre, were estimated by a Cox regression model using Prentice method. Results Individuals in the highest compared with the lowest quartile of PAI-1 had significantly increased risk of colorectal cancer (RR=2.28; 95% CI 1.46 to 3.55; P for trend<0.0012), breast cancer (HR=1.70; 95% CI 1.21 to 2.39; p<0.0055), ACS (HR=2.57; 95% CI 1.75 to 3.77; p<0.001) and ischaemic stroke (HR=2.27; 95% CI 1.28 to 4.03; p<0.0017), after adjustment for sex and age. Additional adjustment for disease-specific confounders, insulin or other metabolic variables did not modify the associations. Risk of colon cancer was stronger for men and for whole and distal colon localisation. Risk for breast cancer was stronger in postmenopausal women. Conclusions Our data provide the first evidence that elevated levels of PAI-1 are potential risk factors for colorectal and breast cancer and a common pathway for cancer and cardiovascular disease.
Phase-Based Application-Driven Hierarchical Power Management on the Single-chip Cloud Computer

To improve energy efficiency processors allow for Dynamic Voltage and Frequency Scaling (DVFS), which enables changing their performance and power consumption on-the-fly. Many-core architectures, such as the Single-chip Cloud Computer (SCC) experimental processor from Intel Labs, have DVFS infrastructures that scale by having many more independent voltage and frequency domains on-die than today's multi-cores. This paper proposes a novel, hierarchical, and transparent client-server power management scheme applicable to such architectures. The scheme tries to minimize energy consumption within a performance window taking into consideration not only the local information for cores within frequency domains but also information that spans multiple frequency and voltage domains. We implement our proposed hierarchical power control using a novel application-driven phase detection and prediction approach for Message Passing Interface (MPI) applications, a natural choice on the SCC with its fast on-chip network and its non-coherent memory hierarchy. This phase predictor operates as the front-end to the hierarchical DVFS controller, providing the necessary DVFS scheduling points. Experimental results with SCC hardware show that our approach provides significant improvement of the Energy Delay Product (EDP) of as much as 27.2%, and 11.4% on average, with an average increase in execution time of 7.7% over a baseline version without DVFS. These improvements come from both improved phase prediction accuracy and more effective DVFS control of the domains, compared to existing approaches.
Toxicity evaluation of single and mixed antifouling biocides measured with acute toxicity bioassays

Antifouling biocides used in boat paints were analyzed with a battery of toxicity bioassays to evaluate the toxic effects of these compounds onVibrio fischeri , Daphnia magnaandSelenastrum capricornotum. The antifoulants tested were Irgarol 1051, Kathon 5287, chlorothalonil, diuron, dichlofluanid, 2-thiocyanomethylthiobenzothiazole (TCMTB) and tributyltin (TBT). In most cases, the sensitivity of the organisms towards the toxicants followed the order: S. capricornotum> D. magna> V. fischeri . Toxicity by concentration level had the following order: TBT = Kathon 5287> chlorothalonil> Irgarol 1051> diuron> dichlofluanid> TCMTB for S. capricornotum. ForD. magna(48 h test), the toxicity order of compounds was TBT > Kathon 5287> chlorothalonil> TCMTB > dichlofluanid> Irgarol 1051> diuron. ForV. fischeri(30 min test), the compound toxicity had the following order: Kathon 5287 > TBT > TCMTB > dichlofluanid> Irgarol 1051> chlorothalonil. Degradation products of Irgarol 1051 and diuron were also tested. Degradation product of Irgarol 1051 was found to be less toxic to the crustacean and the microalga but more toxic to the bacterium. Degradation products of diuron were less toxic to the microalga in comparison with the bacterium. For mixtures of compound, toxicities were additive in only 33% of the cases and 21% of mixtures were less toxic than expected based on the sum of concentrations of toxicants (antagonistic effect). Synergistic enhancements of toxicity were observed for a majority (46%) of the mixtures. The average reproducibility of the EC 50 and LOEC measurements was 27, 24 and 28%, respectively, in the V. fischeri , S. capricornotumandD. magnabioassays. For single compound, the reproducibility of EC 50 was better than±20% for a vast majority of the measurements with the V. fischerisystem, thus agreeing closely with the reported reproducibility values for this relatively well-known assay. © 2002 Elsevier Science B.V. All rights reserved.
Tax and Liquidity Effects in Pricing Government Bonds

Daily data from intra-dealer government bond brokers is examined for tax and liquidity effects. Utilizing actual trade prices rather than dealer estimated quotes gives us a more accurate measure of market clearing prices. Daily trading volume is also available, which provides us with a robust measure of liquidity. We use two approaches, one of which is new, to create cash flow matching portfolios of similar securities and look for pricing discrepancies associated with liquidity or tax effects. We also look for evidence of tax and liquidity effects by including a liquidity term when fitting a cubic spine to the after-tax yield curve. We find evidence of tax timing options and liquidity effects. However, the effects are much smaller than previously reported and the effects of liquidity are primarily due to high volume bond with long maturities.
Safety-Aware Robot Damage Recovery Using Constrained Bayesian Optimization and Simulated Priors

The recently introduced Intelligent Trial-and-Error (IT&E) algorithm showed that robots can adapt to damage in a matter of a few trials. The success of this algorithm relies on two components: prior knowledge acquired through simulation with an intact robot, and Bayesian optimization (BO) that operates on-line, on the damaged robot. While IT&E leads to fast damage recovery, it does not incorporate any safety constraints that prevent the robot from attempting harmful behaviors. In this work, we address this limitation by replacing the BO component with a constrained BO procedure. We evaluate our approach on a simulated damaged humanoid robot that needs to crawl as fast as possible, while performing as few unsafe trials as possible. We compare our new "safety-aware IT&E" algorithm to IT&E and a multi-objective version of IT&E in which the safety constraints are dealt as separate objectives. Our results show that our algorithm outperforms the other approaches, both in crawling speed within the safe regions and number of unsafe trials.
Local Search for Shift Design Nysret Musliu

The typical process of planning and scheduling a rotating workforce in an organization consists of several stages [6]. The fist stage in this process is to determine the temporal requirements. In this stage the number of needed employees of each qualification is found for every time slot of the planning period (e.g., every Monday between 6:00-10:00 there should be 4 employees at work). After this stage one can proceed to determine the total number of employees needed, interrelated with designing the shifts and then assigning these shifts and days-off to employees. There exist different approaches in the literature how to solve these stages. One of the approaches is to coordinate the design of the shifts and the assignment of the shifts to the employees, and to solve it like one problem [3]. Other approaches consider days-off scheduling and shift scheduling only after the shifts have been designed [1, 5]. One of the disadvantages of the second approach is that considering the design of shifts separately does not guarantee that a feasible solution for the assignment of these shifts can be found. However, solving the workforce scheduling problem in several separate stages makes the problem of general workforce scheduling easier to tackle.
A Query Processing Framework based on Hadoop

With the development of cloud computing and big data, the massive volume of dataset proposes a big challenge for cloud data management systems. Unlike traditional database management method, cloud data queries are typically parallel and distributed. Intuitively, the query processing framework should embrace these characteristics. In this paper, by leveraging the inherent data structure of Hadoop HDFS, we design a query process framework. Specifically, facilitated by the key-value structure of HDFS, we construct a two-level index which first locates the target nodes for desired data, and then search within each node for further combination. As for joint operation, our query process engine optimizes by judging if the join key is equal to index key. If not, a MapReduce based join algorithm is then called. In this way, our method can reduce the cost of query processing. Besides, we conduct experiments for empirical evaluation.
VeriWeb: Automatically Testing Dynamic Web Sites

Web sites are becoming increasingly complex as more and more services and information are made available over the Internet and intranets. At the same time, the correct behavior of sites has become crucial to the success of businesses and organizations and thus should be tested thoroughly and frequently. Although traditional software testing is already a notoriously hard, time-consuming and expensive process, testing Web sites presents even greater challenges: Web interfaces are very dynamic; the environment of Web applications is more complex than that of typical monolithic or client-server applications; Web applications, most notably e-commerce sites, have a large number of users who have no training on how to use the application and hence are more likely to exercise it in unpredictable ways. Existing testing tools for automating the process of testing dynamic Web sites require the specification of test scenarios, which results in limited test coverage. In this paper, we present an overview of VeriWeb, a tool for automatically discovering and systematically exploring Web-site execution paths that can be followed by a user in a Web application. Unlike traditional crawlers which are limited to the exploration of static links, VeriWeb can navigate automatically through dynamic components of Web sites, including form submissions and execution of client-side script.
Design and construction of a low cost single-phase induction motor test bench

Single-phase squirrel cage induction motors are vastly used in a wide variety of domestic and industrial applications. As a consequence of market globalization, motor manufacturers are facing an increasingly competitive environment that mandates the adoption of design strategies yielding better performance at lower costs. This fact highlights the importance of having innovative experimental testing means and setups within manufacturers R&D divisions. This paper presents the details of a low cost PC-controlled test bench that was designed and constructed for fractional horse power (FHP) single-phase induction motors. Inference of the various motor parameters and performance is carried out by utilizing the evolutionary particle swarm optimization (PSO) algorithm to solve an inverse problem involving a limited set of multi-speed loading measurements. Full details of the test bench as well as parameter inference evolutionary approach are given in paper.
Soil moisture mapping at regional scales using microwave radiometry: the Southern Great Plains Hydrology Experiment

Surface soil moisture retrieval algorithms based on passive microwave observations, developed and verified at high spatial resolution, were evaluated in a regional scale experiment. Using previous investigations as a base, the Southern Great Plains Hydrology Experiment (SGP97) was designed and conducted to extend the algorithm to coarser resolutions, larger regions with more diverse conditions, and longer time periods. The L-band electronically scanned thinned array radiometer (ESTAR) was used for daily mapping of surface soil moisture over an area greater than 10000 km/sup 2/ for a one month period. Results show that the soil moisture retrieval algorithm performed the same as in previous investigations, demonstrating consistency of both the retrieval and the instrument. Error levels were on the order of 3% for area Integrated averages of sites used for validation. This result showed that for the coarser resolution used that the theory and techniques employed in the algorithm apply at this scale. Spatial patterns observed in the Little Washita Watershed in previous investigations were also observed. These results showed that soil texture dominated the spatial pattern at this scale. However, the regional soil moisture patterns were a reflection of the spatially variable rainfall and soil texture patterns were not as obvious.
Connection control and buffer dimensioning in broadband satellite systems

We propose a simple and predictive connection control scheme for on-board packet switching satellite systems. The algorithms are motivated by the large propagation delay and low computational capabilities inherent in satellite communication systems. We develop an algorithm that uses prediction of individual cell loss ratio (ILR/sub m/,) for connection control and buffer allocation. We also apply our "sliding-window" maximum likelihood (ML) estimation and prediction scheme to dimension buffer capacity using a fluid model. The numerical and simulation results obtained suggest that proposed predictive scheme is a promising approach for real time connection control and buffer dimensioning.
The Haemodynamic Response to the Interictal Epileptic Spikes

We studied the blood oxygen level dependent (BOLD) response to interictal epileptic spikes in a group of patients with focal epilepsy by simultaneous recording of electroencephalography (EEG) and functional magnetic resonance imaging (fMRI). The detection of activated areas was performed by using an approach based on the theory of the general linear models (GLM). Since little is know about the haemodynamic response to the interictal epileptiform activity, for each region involved by fMRI response and for each subject we obtained a robust estimation of the haemodynamic response function (HRF) by using a Bayesian approach. We observed important variations in the time course of the haemodynamic response between patients and across the different fMRI areas of a same subject.
Maternal Stress and Child Well-Being : Evidence from Siblings

We study how maternal stress affects child outcomes. We find that in-utero exposure to elevated levels of the stress hormone cortisol negatively affects the cognition, health and educational attainment of offspring. These findings are based on comparisons between siblings to control for unobserved differences between mothers that could bias estimates. Our results are consistent with recent experimental results in the neuro-biological literature linking exogenous exposure to coritsol in-utero with reduced growth in the hippocampal region of the brain and declines in offspring cognitive, behavioral and motor development. Moreover, we find that the cortisol levels of low SES mothers are both higher on average and more variable, suggesting that prenatal stress may play an important role in explaining why relatively few children born into poverty are able to escape it as adults.
Rupture of the Heart: A Critical Analysis of 47 Consecutive Autopsy Cases

SINCE the first description of rupture of the heart by William Harvey in 1647, this dramatic termination of life has attracted the attention of clinicians and pathologists alike. The anatomist Morgagni,' whose own life ended at the age of 79 with this disease, collected 10 cases in 1765. By 1928, 734 cases had been culled from the world literature by Davenport2 and subsequently many more reviews and case reports have been added.3-5 At the present time, there are conflicting factors that tend to alter the relative incidence of rupture of the heart. On one hand, with increased awareness and diagnostic facility in the recognition of acute myocardial infarction, one might expect the over-all incidence of rupture as well as other fatal complications to be reduced. On the other hand, because of the improved outlook for the acutely ill patient, shielded from fatal arrhythmias and cardiac standstill by pharmacologic or electrical stabilization, sustained in shock with vasopressors, and protected from thromboembolism by anticoagulants, the relative incidence of cardiac rupture among fatal cases might increase. In order to determine whether there is a notable change in incidence of rupture and to re-evaluate underlying factors, the consecutive autopsy series of three hospitals were reviewed over a period of 13 years. *
A block-Alamouti scheme for filter bank based multicarrier transmission

Filter bank based multicarrier (FBMC) is an interesting alternative to OFDM especially for spectrally agile communication waveform generation and for cognitive radio scenarios. For enhanced link performance and robustness, most of the common multi-antenna schemes can be combined with FBMC equally well as with OFDM. However, one significant shortcoming of FBMC is the difficulty of combining it with the famous transmit diversity scheme of Alamouti coding. In this paper, we present a block-wise Alamouti scheme for FBMC and test its performance.
Spontaneous and induced verbal rehearsal in a recall task.

A nonverbal serial recall task was administered to 89 6and 7-year-old children. Subgroups of "rehearsers" and "nonrehearsers" were identified by means of direct observation of Ss' spontaneous semi-overt verbalizations during fifteen-second delays between presentation and recall. The serial recall of the nonrehearsers proved significantly poorer than that of the rehearsers. Brief training sufficed to induce the nonrehearsers to rehearse, and in consequence their recall scores became almost indistinguishable from those of the spontaneous rehearsers. When subsequently given the option of rehearsing or not, however, they tended to abandon the strategy. The results suggest that, at least for this age group and for this sort of task, the child's unmediated behavior is due to his failure to produce the appropriate mediator (i.e., a production deficiency) rather than to an inability, given its production, to utilize it effectively (i.e., a mediational deficiency).
A principal curve-based method for data clustering

In this work a new method for data clustering based on principal curves is presented. Principal curves consist of a nonlinear generalization of Principal Component Analysis and may also be regarded as continuous versions of 1-D self-organizing maps. The proposed method divides the principal curves extracted by the k-segments algorithm into two or more curves, according to the number of clusters defined by the user. Then, the data are grouped according to the short distance from them to the curves. The method was applied to eight databases with different characteristics. The results were compared with the k-means algorithm. The method shown to be suitable for elongated and spherical clusters.
Monolithic silicon micromachined Ka-band filters

This paper describes a novel kind of filter at Ka-band on silicon substrate, which is based on the substrate integrated waveguide (SIW) design and MEMS fabrication process. Inductively coupled plasma (ICP) deep etching is used to form the square via-holes of SIW cavities. A 5-pole micromachined filter is made from rectangular cavities integrated into a silicon substrate and is fed by coplanar waveguide(CPW) transmission-lines through current probes. Measured results show a 0.5 dB loss with a 6.5% bandwidth at a center frequency of 30.9 GHz. The final size of the filter chip is 10.0 mm x 2.7 mm x 0.4 mm. This micromachined filter gives compact size and outstanding performance with relatively mature batch process.