Miracle-dz/UniFAR-FTUs huggingface dataset:
High Prevalence of Posterior Polymorphous Corneal Dystrophy in the Czech Republic; Linkage Disequilibrium Mapping and Dating an Ancestral Mutation

Posterior polymorphous corneal dystrophy (PPCD) is a rare autosomal dominant genetically heterogeneous disorder. Nineteen Czech PPCD pedigrees with 113 affected family members were identified, and 17 of these kindreds were genotyped for markers on chromosome 20p12.1- 20q12. Comparison of haplotypes in 81 affected members, 20 unaffected first degree relatives and 13 spouses, as well as 55 unrelated controls, supported the hypothesis of a shared ancestor in 12 families originating from one geographic location. In 38 affected individuals from nine of these pedigrees, a common haplotype was observed between D20S48 and D20S107 spanning approximately 23 Mb, demonstrating segregation of disease with the PPCD1 locus. This haplotype was not detected in 110 ethnically matched control chromosomes. Within the common founder haplotype, a core mini-haplotype was detected for D20S605, D20S182 and M189K2 in all 67 affected members from families 1–12, however alleles representing the core mini-haplotype were also detected in population matched controls. The most likely location of the responsible gene within the disease interval, and estimated mutational age, were inferred by linkage disequilibrium mapping (DMLE+2.3). The appearance of a disease-causing mutation was dated between 64–133 generations. The inferred ancestral locus carrying a PPCD1 disease-causing variant within the disease interval spans 60 Kb on 20p11.23, which contains a single known protein coding gene, ZNF133. However, direct sequence analysis of coding and untranslated exons did not reveal a potential pathogenic mutation. Microdeletion or duplication was also excluded by comparative genomic hybridization using a dense chromosome 20 specific array. Geographical origin, haplotype and statistical analysis suggest that in 14 unrelated families an as yet undiscovered mutation on 20p11.23 was inherited from a common ancestor. Prevalence of PPCD in the Czech Republic appears to be the highest worldwide and our data suggests that at least one other novel locus for PPCD also exists.
Software Reflexion Models: Bridging the Gap between Design and Implementation

The artifacts constituting a software system often drift apart over time. We have developed the software reflexion model technique to help engineers perform various software engineering tasks by exploiting, rather than removing, the drift between design and implementation. More specifically, the technique helps an engineer compare artifacts by summarizing where one artifact (such as a design) is consistent with and inconsistent with another artifact (such as source). The technique can be applied to help a software engineer evolve a structural mental model of a system to the point that it is "good enough" to be used for reasoning about a task at hand. The software reflexion model technique has been applied to support a variety of tasks, including design conformance, change assessment, and an experimental reengineering of the million-lines-of-code Microsoft Excel product. We provide a formal characterization of the reflexion model technique, discuss practical aspects of the approach, relate experiences of applying the approach and tools, and place the technique into the context of related work.
Millihertz Optical/UV Oscillations in 4U 1626-67: Evidence for a Warped Accretion Disk

We have detected large-amplitude 0.3-1.2 mHz quasi-periodic oscillations (QPOs) from the low-mass X-ray binary pulsar 4U 1626-67/KZ TrA, using UV photometry from HST and ground-based optical photometry. These 1 mHz QPOs, which have coherence (Nu/DeltaNu)=8, are entirely distinct from the 130 mHz pulsar spin frequency, a previously known 48 mHz QPO, and the 42 min binary period (independently confirmed here). Unlike the 48 mHz and 130 mHz oscillations which are present in both the optical/UV and the X-ray emission, the 1 mHz QPOs are not detected in simultaneous observations with RXTE. The rms amplitude of the mHz QPO decreases from 15% in the far UV to 3% in the optical, while the upper limit on a corresponding X-ray QPO is as low as 0.8%. We suggest that the mHz oscillations are due to warping of the inner accretion disk. We also report the detection of coherent upper and lower sidebands of the 130 mHz optical pulsations, with unequal amplitude and a spacing of 1.93 mHz around the main pulsation. The origin of these sidebands remains unclear.
Qualitative Concurrent Games with Imperfect Information

We define a model of games that combines concurrency, imperfect information and stochastic aspects. Those are finite states games in which, at each round, the two players choose, \emph{simultaneously} and \emph{independently}, an action. Then a successor state is chosen accordingly to some fixed probability distribution depending on the previous state and on the pair of actions chosen by the players. Imperfect information is modelled as follows: both players have an equivalence relation over states and, instead of observing the exact state, they only know to which equivalence class it belongs. Therefore, if two partial plays are indistinguishable by some player, he should behave the same in both of them. We consider reachability (does the play eventually visit a final state? ) and Buchi objective (does the play visit infinitely often a final state? ). A play is won by the first player whenever it satisfies the objective. Our main contribution is to prove that the following problem is $2$-\textsc{ExpTime}-complete: decide whether the first player has a strategy that ensures her to almost-surely win against \emph{any} possible strategy of her adversary. We also precisely characterise those strategies needed by the first player to almost-surely win.
Random sampling with a reservoir

We introduce fast algorithms for selecting a random sample of <italic>n</italic> records without replacement from a pool of <italic>N</italic> records, where the value of <italic>N</italic> is unknown beforehand. The main result of the paper is the design and analysis of Algorithm Z; it does the sampling in one pass using constant space and in <italic>O</italic>(<italic>n</italic>(1 + log(<italic>N/n</italic>))) expected time, which is optimum, up to a constant factor. Several optimizations are studied that collectively improve the speed of the naive version of the algorithm by an order of magnitude. We give an efficient Pascal-like implementation that incorporates these modifications and that is suitable for general use. Theoretical and empirical results indicate that Algorithm Z outperforms current methods by a significant margin.
Research on Network Security Situation Awareness Technology Based on Artificial Immunity System

With the applying of artificial immune technology in the field of network security situation awareness, this article puts forward a new immune network security situation awareness model to enable self-learning and self-adapting of network system, and increase its immunity and viability. When network is under attack, it can find out the current network security situation and future trend in an all-around way, provide grounds for reasonable and accurate response to guarantee the usability of system.
PIRS: An information retrieval system based on the vector space model

In this work we designed an information retrieval system ldquoPIRSrdquo - precision information retrieval system - based on the modified vector space model introducing a new query weighting formula and similarity function. These modifications of the classical vector space model aimed to improve the average precision level of the system. Two well known IR parameters, precision and recall were used to compute the performance of system.
Mock jurors’ expectations regarding the psychological harm experienced by rape victims as a function of rape prototypicality

ABSTRACT We examined mock jurors’ judgments in a rape case that was either prototypical (late-night assault by a stranger in a public place) or non-prototypical (daytime assault by an acquaintance in a private home). We also varied the psychological harm experienced by the victim as a result of the rape (mild anxiety or posttraumatic stress disorder (PTSD)). We hypothesized that participants’ expectations regarding the level of harm the victim is likely to experience would mediate the effect of harm level on ratings of the victim’s credibility, and this indirect effect would be contingent on the prototypicality of the case. In a pilot experiment we demonstrated that people expect prototypical rape cases to be more traumatic for victims than non-prototypical cases. In the main experiment, and as predicted, participants in the Prototypical condition expected the victim to develop PTSD more than mild anxiety, but Non-Prototypical condition participants expected the opposite. In addition, a level of harm that was consistent rather than inconsistent with their expectations led participants to rate the victim as more credible; they also rated her as less responsible for what happened, and they thought the defendant was more likely guilty and that he should be incarcerated for a longer period of time.
Heuristic Graph Bisection with Less Restrictive Balance Constraints

Fast graph partitioning is an important subproblem in many applications. While the classical problem asks all partitions to be of almost the same size, there are some applications that do not need or even do not want such restrictive constraints. This paper shows how the Helpful-Set heuristic implemented in the graph partitioning library Party can be adopted to the less restrictive case.
Air Quality Modeling of Hazardous Pollutants: Current Status and Future Directions

Abstract The current requirements and status of air quality modeling of hazardous pollutants are reviewed. Many applications require the ability to predict the local impacts from industrial sources or large roadways as needed for community health characterization and evaluating environmental justice concerns. Such local-scale modeling assessments can be performed by using Gaussian dispersion models. However, these models have a limited ability to handle chemical transformations. A new generation of Eulerian grid-based models is now capable of comprehensively treating transport and chemical transformations of air toxics. However, they typically have coarse spatial resolution, and their computational requirements increase dramatically with finer spatial resolution. The authors present and discuss possible advanced approaches that can combine the grid-based models with local-scale information.
A Novel Approach for the Design of a Bandpass Filter with Attenuation Poles Using a Linear Relationship

In this paper, a novel design method for bandpass filter with attenuation poles (BAP) is presented. The changed inverter element values due to inserting either capacitors or inductors can be optimized using the linear relationship between inverter element values of a conventional bandpass filter (BPF) and those of the BAP using the Touchstone program. A 1800–1825MHz bandpass filter with attenuation poles for duplexers is designed and fabricated using coaxial dielectric resonators. The validity of this design approach is demonstrated by a computer simulation. The resonators are simulated equivalently as shorted lossy transmission lines. The measured results of center frequency, bandwidth, and attenuation pole frequencies closely agree with the design values. key words: bandpass lter design, attenuation pole, coaxial di-
The Cosmological Parameters 2010

This is a review article for The Review of Particle Physics 2010 (aka the Particle Data Book). It forms a compact review of knowledge of the cosmological parameters at the beginning of 2010. Topics included are Parametrizing the Universe; Extensions to the standard model; Probes; Bringing observations together; Outlook for the future.
An optimal link and rate combination search algorithm for STDMA MAC protocols

In this paper, an optimal link selection and data rate assignment algorithm for spatial time division multiple access (STDMA) medium access control (MAC) protocols is exploited. The motivation for this study is jointly searching for optimal links and corresponding rates in simultaneous transmission environments in order to maximize the throughput capacity in each time slot. A mathematical formulation for exploring such links and rates combination under power and delay constrains is developed. Then, we transform this formulation into a standard knapsack problem (KP). Finally, we solve this KP using discrete dynamic programming (DDP) and propose a joint optimal link and rate search (JOLRS) algorithm which can be generically embedded with any existing STDMA MAC protocol. Through theoretical and experimental studies, we show that our JOLRS algorithm significantly outperforms baseline alternatives and similar existing algorithms in throughput, power consumption, and PER performance.
Incremental Japanese Spoken Language Generation in Simultaneous Machine Interpretation

Towards smooth and natural multilingual speech communication, it is desired to develop simultaneous interpretation systems. This paper proposes a technique for incremental Japanese generation in EnglishJapanese simultaneous machine interpretation. Generally, the difference of word-order in both languages causes a fatal problem in incremental translation between English and Japanese. In our approach, the acceptable translation result can be generated as immediately as possible by positively utilizing inversions, repetitions, corrections, etc. The simultaneous interpretaion can be attained by synchronous execution of incremental dependency parsing, transfer and generation. The prototype system of Enligh-Japanese incremental translation was developed based on our technique. An experiment using ATIS corpus has shown our technique to be effective for improving the output-timing of translation results.
Association between ABO blood group and HCV-related hepatocellular carcinoma risk in China

Abstract The ABO blood group has previously been reported to be associated with risk for certain malignancies; however, data about the risks for hepatocellular carcinoma (HCC) according to blood type are limited. Thus, we conducted a retrospective case–control study to investigate whether the ABO blood group contributes to hepatitis C virus (HCV) infection–induced HCC. From January 2010 to June 2016, 447 consecutive patients with chronic HCV infection were recruited. Of these patients, 217 had HCV-related HCC, and 230 had chronic hepatitis C (CHC) without HCC. We performed multivariate logistic regression to probe the association between the ABO blood group and HCC risk. Compared with subjects with blood type O, patients with blood type A had an adjusted odds ratio (AOR) of 3.301 (95% confidence interval [CI], 1.927–5.653) for HCC after adjusting for age and gender. We found statistically significant associations between blood type A and HCC risk for both men (AOR [95% CI] = 4.192 [1.959–8.973]) and women (AOR [95% CI] = 2.594 [1.231–5.466]), and for patients aged below 70 years (<60 years: AOR [95% CI] = 3.418 [1.338–8.734]; 60–69 years: AOR [95% CI] = 3.917 [1.730–8.867]). Thus, HCC risk is associated with ABO blood type in Chinese CHC patients, and CHC patients with blood type A are more susceptible to HCV-related HCC than patients with other blood types.
A Survey for N V Absorption at z ≈ zGRB in GRB Afterglow Spectra: Clues to Gas Near the Progenitor Star

We survey N V absorption in the afterglow spectra of long-duration gamma-ray bursts (GRBs) with the intent to study highly ionized gas in the galaxies hosting these events. We identify a high incidence (6/7) of spectra exhibiting N V gas with z ≈ zGRB, and the majority show large column densities N(N+ 4) ≳ 1014 cm −2. With one exception, the observed line profiles are kinematically “cold”; i.e., they are narrow and have small velocity offset (δ v≲ 20 km s−1) from absorption lines associated with neutral gas. In addition, the N V absorption has similar velocity to that of the UV-pumped fine-structure lines, indicating that these high ions are located within ≈1 kpc of the GRB afterglow. These characteristics are unlike those for N V gas detected in the halo/disk of the Milky Way or along sight lines through high-z damped Lyα systems but resemble the narrow absorption line systems associated with quasars and some high-z starbursts. We demonstrate that GRB afterglows photoionize nitrogen to N+4 at r ≈ 10 pc. This process can produce N V absorption with characteristics resembling the majority of our sample, and we argue that it is the principal mechanism for N+4 along GRB sight lines. Therefore, the observations provide a snapshot of the physical conditions at this distance. In this scenario, the observations imply that the progenitor’s stellar wind is confined to r < 10 pc, which suggests that the GRB progenitors occur within dense (n > 103 cm −3) environments, typical of molecular clouds. The observations, therefore, primarily constrain the physical conditions—metallicity, density, velocity fields—of the gas within the (former) molecular cloud region surrounding the GRB.
The Inhibitor of Apoptosis Protein-Binding Domain of Smac Is Not Essential for Its Proapoptotic Activity

Smac/DIABLO, a recently identified inhibitor of apoptosis protein (IAP)-binding protein, is released from the mitochondria during apoptosis and reportedly potentiates apoptosis by relieving the inhibition of IAPs on caspases. We now describe the molecular characterization of Smac β, an alternatively spliced form of Smac, which lacks the mitochondrial-targeting sequence found in Smac and has a cortical distribution in both human embryonic kidney 293 and breast epithelial tumor MCF-7 cells. Smac β, which binds IAPs in vitro, does not bind IAPs in intact cells due to cellular processing and removal of its NH2-terminal IAP-binding domain. Despite its inability to interact with IAPs in cells, processed Smac β is proapoptotic, as demonstrated by its ability to potentiate apoptosis induced by both death receptor and chemical stimuli. Furthermore, expression of a NH2-terminally truncated Smac mutant (Δ75), which lacks the entire IAP-interacting domain, potentiates apoptosis to the same extent as Smac and Smac β. Our data support the hypothesis that the main proapoptotic function of Smac and Smac β is due to a mechanism other than IAP binding.
Estimating the list size for BEAST-APP decoding

The BEAST-APP decoding algorithm is a low-complexity bidirectional algorithm that searches code trees to find the list of the most likely codewords, which are used to compute approximate a posteriori probabilities (APPs) of the transmitted symbols. It can be applied to APP-decoding of any linear block code, as well as in iterative structures for decoding concatenated block codes. Previous work has shown that the list size sufficient to achieve the performance of true-APP decoding is very small. This paper aims at providing a theoretical justification for this result. The sufficient list size is estimated first via the minimum list distance - a parameter that is defined and analyzed as a key factor that governs the performance of list-based algorithms. Additionally, statistical properties of the codeword likelihoods are investigated and the typical list structure is presented. Preliminary simulation results for iterative BEAST decoding confirm the list-size estimates obtained from both approaches
Gradual Information Flow Typing

We present a method to support the gradual evolution of secure scripts by formalizing an extension of the simply-typed lambda calculus that provides information flow constructs. These constructs allow initially insecure programs to evolve via targeted refactoring and to provide dynamic information flow guarantees via casts, as well as static information flow guarantees via labeled types.
Diagnostic Accuracy of Dynamic Contrast Enhanced Magnetic Resonance Imaging in Characterizing Lung Masses

Background Imaging plays a critical role not only in the detection, but also in the characterization of lung masses as benign or malignant. Objectives To determine the diagnostic accuracy of dynamic magnetic resonance imaging (MRI) in the differential diagnosis of benign and malignant lung masses. Patients and Methods Ninety-four masses were included in this prospective study. Five dynamic series of T1-weighted spoiled gradient echo (FFE) images were obtained, followed by a T1-weighted FFE sequence in the late phase (5th minutes). Contrast enhancement patterns in the early (25th second) and late (5th minute) phase images were evaluated. For the quantitative evaluation, signal intensity (SI)-time curves were obtained and the maximum relative enhancement, wash-in rate, and time-to-peak enhancement of masses in both groups were calculated. Results The early phase contrast enhancement patterns were homogeneous in 78.2% of the benign masses, while heterogeneous in 74.4% of the malignant tumors. On the late phase images, 70.8% of the benign masses showed homogeneous enhancement, while most of the malignant masses showed heterogeneous enhancement (82.4%). During the first pass, the maximum relative enhancement and wash-in rate values of malignant masses were significantly higher than those of the benign masses (P = 0.03 and 0.04, respectively). The cutoff value at 15% yielded a sensitivity of 85.4%, specificity of 61.2%, and positive predictive value of 68.7% for the maximum relative enhancement. Conclusion Contrast enhancement patterns and SI-time curve analysis of MRI are helpful in the differential diagnosis of benign and malignant lung masses.
A Domain-Configurable Development Environment for Service-Oriented Applications

Software systems play an increasingly important role in our everyday lives. New application domains regularly appear, bringing with them challenging new requirements. The software engineering community is striving to handle a significant number of new critical demands. Productivity, quality, and runtime flexibility are only a few of them. To satisfy such requirements, the community has proposed new development paradigms, such as service-oriented computing. SOC promotes the use of well-defined composition units (services) to support rapid application development.