Miracle-dz/UniFAR-FTUs huggingface dataset:
The Role of Noncoding Genetic Variation in Isolated Orofacial Clefts

In the past decade, medical genetic research has generated multiple discoveries, many of which were obtained via genome-wide association studies (GWASs). A major GWAS finding is that the majority of risk variants for complex traits map to noncoding regions. This has resulted in a paradigm shift in terms of the interpretation of human genomic sequence variation, with more attention now being paid to what was previously termed “junk DNA. ” Translation of genetic findings into biologically meaningful results requires 1) large-scale and cell-specific efforts to annotate non-protein–coding regions and 2) the integration of comprehensive genomic data sets. However, this represents an enormous challenge, particularly in the case of human traits that arise during embryonic development, such as orofacial clefts (OFCs). OFC is a multifactorial trait and ranks among the most common of all human congenital malformations. These 2 attributes apply in particular to its isolated forms (nonsyndromic OFC [nsOFC]). Although genetic studies (including GWASs) have yielded novel insights into the genetic architecture of nsOFC, few data are available concerning causality and affected biological pathways. Reasons for this deficiency include the complex genetic architecture at risk loci and the limited availability of functional data sets from human tissues that represent relevant embryonic sites and time points. The present review summarizes current knowledge of the role of noncoding regions in nsOFC etiology. We describe the identification of genetic risk factors for nsOFC and several of the approaches used to identify causal variants at these loci. These strategies include the use of biological and genetic information from public databases, the assessment of the full spectrum of genetic variability within 1 locus, and comprehensive in vitro and in vivo experiments. This review also highlights the role of the emerging research field “functional genomics” and its increasing contribution to our biological understanding of nsOFC.
The Paced Auditory Serial Addition Test: to what extent is it performed as instructed, and is it associated with disease course?

One commonly used outcome measure in multiple sclerosis (MS) clinical trials is the Multiple Sclerosis Functional Composite, which includes the Paced Auditory Serial Addition Test (PASAT) as a measure of cognitive function. Concerns have been raised about the standard PASAT scoring method, whereby the number of correct responses is summed. This method does not take into account whether the test is performed as intended, which may affect interpretation of the results. Accordingly, another scoring method has been proposed, which examines the number of times a correct response is immediately preceded by another correct response (termed a dyad). We compared the two scoring methods for the PASAT, and found that the mean percentage of correct responses not accounted for by dyads ranged from 27.5% to 49.5%, indicating that much of the time the test is not performed as instructed. We also examined disease course and the PASAT score, as studies have produced conflicting results as to whether disease course is associated with cognitive impairment. Although disease course was significantly associated with the PASAT score, it accounted for little of the variation in scores, even when adjusting for other predictors. Finally, as 14.2% of participants refused to do the PASATor failed to complete it, we also examined whether the Perceived Deficits Questionnaire (PDQ), a self-reported measure of cognitive function, is a potential proxy measure for the PASAT. The correlation between the two tools was low (-0.14), suggesting that the PDQ is not a useful substitute for the PASAT.
The Thematic Apperception Test: Toward a Standard Measure of the Big Three Motives

The application of the Thematic Apperception Test to the assessment of motives has been heralded as an important milestone in personality psychology. However, although this approach is well established, there is at present no standard battery of cues for measuring the Big Three motives (achievement, affiliation, power). Furthermore, the extent to which scoring subcategories contribute to overall motive scores has been neglected. Our research with students and managers examined the effectiveness of picture cues in eliciting motive imagery and the prevalence of scoring subcategories within each motive scoring system. Results from 2 data sets comprising 547 men and women suggested that there were 3 cues that should be retained for future research and that motive scoring systems could be refined through removal of redundant subcategories. Further research is needed to systematically investigate the effectiveness of a standard battery of cues and the validity of revised motive scoring systems.
Re-coupling: the uBlotar synthesis instrument and the sHowl speaker-feedback controller

This paper concerns enhancements to the blotar, a digital synthesis instrument based on similarities between physical models of the flute and electric guitar. Digital instrument structure and control parameters are described and related to mapping concerns for a gestural controller—the sHowl, a hand-held speaker used also to produce feedback on an electric guitar signal.
The proform of eosinophil major basic protein: a new maternal serum marker for Down syndrome

The proform of eosinophil major basic protein (proMBP), the most abundant protein in the eosinophil specific granule, is synthesized by the placenta and secreted into the maternal circulation, where it is found complex‐bound to pregnancy‐associated plasma protein‐A (PAPP‐A) and other proteins. We examined the potential of proMBP as a maternal serum marker for fetal Down syndrome (DS) by determining its maternal serum concentration (MSpMBP) in 25 Down syndrome (DS) pregnancies and 152 control pregnancies in the first trimester, and in 105 DS pregnancies and 156 control pregnancies in the second trimester. The median (95 per cent confidence interval) MSpMBP MoM in DS pregnancies (n=15) was 0.66 (0.49–0.79) in gestational weeks 5–9; 1.06 (0.71–1.97) in weeks 10–12 (n=10) and 1.62 (1.18–1.98) in weeks 14–20 (n=105). Using parameterized receiver operator characteristics analysis for proMBP as a single marker for DS, detection rates (DRs) of 22 per cent and 38 per cent, for false‐positive rates (FPRs) of 5 per cent, were found in weeks 5–9 (using MSpMBP⩽cut‐off) and weeks 14–20 (using MSpMBP⩾cut‐off), respectively. When age and MSpMBP were used as markers in combination, a DR of 36.8 per cent for an FPR of 5.5 per cent was obtained in weeks 5–9 using a risk cut‐off of 1:250. In weeks 14–20 the DR was 48.4 per cent for an FPR of 5.3 per cent using the same risk cut‐off. This makes proMBP a marker comparable in diagnostic efficiency to human chorionic gonadotrophin (hCG), and exceeding that of alpha‐fetoprotein (AFP) and unconjugated oestriol (uE3), in the second trimester. Copyright © 1999 John Wiley & Sons, Ltd.
Lamivudine Therapy for Japanese Patients with Cirrhosis B

Objective: The aim of this study was to investigate the emergence of YMDD mutants in patients with chronic hepatitis B during lamivudine therapy and to compare the emergence patterns of YMDD mutants in cirrhotic and noncirrhotic patients. Methods: Eighteen cirrhotic and 37 noncirrhotic patients with chronic hepatitis B were studied. The emergence of YMDD mutants was determined before, as well as at 1, 3, 6, 9 and 12 months after treatment using a highly sensitive method based on polymerase chain reaction. Results: Although YMDD mutants were elicited early, the emergence of YMDD mutants was not always associated with breakthrough hepatitis. YMDD mutants appeared in cirrhotic and noncirrhotic patients: in 22 and 8% at 1 month, 13 and 21% at 3 months, 46 and 19% at 6 months, 30 and 19% at 9 months, and 83 and 27% at 12 months, respectively. Conclusion: YMDD mutants emerge more frequently in cirrhotic than noncirrhotic patients during the early period on lamivudine treatment. The highly sensitive method may be useful for monitoring the development of YMDD mutants in patients with chronic hepatitis B during lamivudine therapy.
CPU/GPU Hybrid Detection for Malware Signatures

Malware detection is an important aspect of cyber security. The process of identifying malicious code in files or network traffic is very complex and requires a lot of computational resources. Most security solutions that deal with malware detection implement advanced string matching algorithms or look for certain behavioral patterns during program execution. These methods of detection can cause significant performance penalties for real-time applications, can limit the scan surface or degrade user experience. In this paper we discuss a hybrid approach that leverages CPU and GPU compute capabilities in order to accelerate pattern matching for malware signatures. The solution presented focuses on improving performance and reducing power consumption of string matching algorithms on devices such as ultrabooks and laptops.
Characteristics of square-lattice microstructured optical fibers: An analytical field approach

Using our earlier developed analytical field model we have studied the modal properties of index-guiding or solid-core microstructured optical fibers with square-lattice of circular voids or air-holes in the photonic crystal cladding made with high nonlinearity non-silica glass composition material as well as fused silica glass. For comparison the numerical simulation results have been included.
The research of network information filtering model based on genetic algorithm

The technology of information filtering is the hotspot in current study. This paper analyses three models of information filtering: Boolean logical model, vector space model, latent semantic indexing model, and points out their defects.In order to purify the information of the Internet, this article introduces the genetic algorithm to the network information filtering system and establishes the network information filtering model based on genetic algorithm. At last it compares the network information filtering model based on genetic algorithm with the three commonly used models. Through the result of the experiments, it is easy to see that the information filtering model based on genetic algorithm is a predominant model.
Models for images and video foreground segmentation using finite mixtures of generalized Gaussians. (Modèles de segmentation d'avant-plan d'images et vidéos par les mélanges finis de Gaussiennes généralisées)

In this thesis, we deal with the foreground segmentation (FS) problem that is a key issue to numerous computer vision applications such as document analysis, object recognition, and video surveillance. Two problems can arise from the foreground segmentation depending on the input data: image foreground segmentation vs. video foreground segmentation. Many approaches have been proposed to address both of these problems, among of them is the histogram-based approach. However, most of the histogram-based approaches assume a unimodal Gaussian histogram shape for data classes and make use of parameters to estimate their distributions. Consequently, the efficiency these techniques could be affected by the fact that the data distribution is multi-modal and/or non-Gaussian. Moreover, addressing the problem of video foreground segmentation is not a trivial task especially in some challenging situations such as illumination changes, cast shadows, dynamic backgrounds, and pan-tilt-zoom (PTZ). These challenges have been widely studied to be able to make the current approaches more robust to such scenarios. To address the FS in images and videos, we use the mixture of generalized Gaussians (MoGG’s) for modeling the histogram of data (image or video). The merits of using the MoGG include: (i) An additional degree of freedom that controls its kurtosis. (ii) Histogram modes, ranging from sharply peaked to flat ones, can be accurately represented using this model. (iii) Skewed and multi-modal classes are explicitly represented using mixtures of GGDs. Furthermore, an online mixture of generalized Gaussian (MoGG) model is used to model the temporal information represented by the pixel history in image sequences. The former model is enriched by integrating temporal co-occurrence of background/foreground classes to deal with complex background dynamics. Besides, spatial analysis is introduced to deal with shadows, stopping objects, and PTZ camera effects. The proposed algorithms have been developed to run in real-world environmentswith near real-time performance. Experiments on the available datasets show that the proposed algorithms significantly enhance results (both qualitatively and quantitatively) compared to the other state-of-the-art techniques.
The effects of unilateral transcutaneous electrical nerve stimulation of the median nerve on bilateral somatosensory thresholds

Transcutaneous electrical nerve stimulation (TENS) is used to relieve acute and chronic pain. TENS electrodes are applied at the site of pain or in segments related to the pain, although there is limited research to support either approach. This study investigated the effects of unilateral TENS on mechanical and thermal thresholds at ipsilateral and contralateral sites in healthy human participants. Sensory perception thresholds were measured on the ipsilateral and contralateral thenar eminence of 16 volunteers for von Frey filaments, sharpness, warm, cold and heat pain. TENS was administered over the right median nerve for 10 min at 100 pulses per second (pps) and an intensity which elicited mild tingling in the hand. During TENS, ipsilateral threshold was greater than contralateral threshold for all sensory modalities, although differences were less marked for thermal stimuli. TENS effects had disappeared 30 min after TENS had been switched off although there was a tendency for thermal thresholds to remain elevated. We conclude that during stimulation, TENS elevates somatosensory thresholds within the distribution of the stimulated nerve. The rapid and short‐lived ipsilateral effect is consistent with findings from animal studies and suggests a central segmental mechanism.
Modelling of DC-DC converters based on front-to-front connected MMC for small signal studies

The Multi-terminal DC grid is expected to be built incrementally by interconnecting existing HVDC installations. In doing so, an enabling component is the DC-DC converter which also plays the role of a power flow controller. A number of DC-DC converter topologies, targeting different applications, have been proposed in literature. However, detailed simulation models for system level studies are not developed, yet. This paper will focus on reduced order modelling and control of the Front-to-Front MMC based DC-DC converter for system level studies. The developed model is validated against a full detail average model. A simple approach to investigate poorly damped oscillations is also proposed. The approach is then used to investigate a poorly damped mode in the leg energy state that was excited by a transient in ac power.
A New Efficient Stereoselective Method for the Synthesis of (E)-5-Aminoallyl-Pyrimidine-5′-Triphosphates Using Palladium-Catalyzed Heck Reaction

An efficient overall two-step strategy for the synthesis of (E)-5-aminoallyl-pyrimidine-5′-triphoshate, starting from commercially available pyrimidine-5′-triphosphate is described. The method involves regioselective iodination of pyrimidine-5′-triphosphate, followed by the palladium-catalyzed Heck coupling with allylamine. The catalytic reaction is highly stereoselective and compatible with many functional groups present in the reactants.
Effect of Jatropha curcas Leaf Extract on Pathological Changes in Experimental Diabetes in Rats

Twenty five rats were divided into five groups of f ive rats each. Group I served as healthy control and group II as n egative control. The study was conducted for the antidiabetic property e valuation after single injection of alloxan drug at 100 mg/kg body weight intraperitoneally followed after 48 hours by the treatment with metfo rmin (300 mg/kg) in group III, hydroethanolic extract of Jatropha curcas leaves (HEJC) (200 mg/kg) in group IV and hydroethanolic extract of Jatropha curcas leaves (400 mg/kg) in group V. Gross lesions could only be recorded in liver and kidneys of group II rats. Microscopic examination r evealed vacuolar degeneration and swelling of hepatocytes in liver a nd enlarged glomeruli in kidneys of diabetic rats. Improvement in metformin and high dose extract treated groups (group V) was observed in the form a s evident by mild to moderate degeneration of hepatocytes in liver and m oderate swelling of glomeruli. Electron microscopic changes revealed re duction in number of secretory granules, degenerative changes in nucleus and severe destruction of nuclear membrane in alloxan induced diabetic gro up. Treatment groups, however, showed apparently normal nucleus, mitochondria and moderate increase in number of secretory granules. It is con cluded from this investigation that HEJC at 200 mg/kg and 400 mg/kg daily for 14 days produced protective effects on tissue changes and u ltrastructral changes in alloxan induced diabetic rats. Thus, HEJC could fur ther be investigated to develop a strategy for herbal remedy for the preven tion and treatment of diabetes in man and animals.
Digital automatic control system of phase-lock motor drive

Actually, the research of phase-lock motor drives is carried out with use of methods of the nonlinear control systems theory. These methods are rather difficult for calculations. The authors make the assumption of use of digital control systems methods for the analysis of the electric drive in a certain area of shaft speed. Digital control systems methods allow to simplify calculations and to receive difficult control laws of the motor drive. The algorithm developed in the Matlab soft is applied to define lower bound of rpm range. The results were received allow to construct a mathematic model of digital phase-lock motor drive and carry out the analysis of dynamic characteristics. Computer parametrical optimization was made to find maximum speed in transient mode of digital phase-lock motor drive.
Finite spectrum assignment of systems with general delays

This article presents a new framework for dealing with pure and distributed delays simultaneously and impartially as general delays in algebraic finite spectrum assignment. The framework based on an important property common to general delays gives a sufficient condition for finite spectrum assignability of scalar systems with several general delays and a design method of a controller achieving finite spectrum assignment. Especially in algebraic control theory for delay systems, pure and distributed delays have never been dealt with simultaneously and impartially. The framework is significantly important also for multidimensional system theory because its potential applicability to the discussion on systems with general delays, i.e. the possibility that especially distributed delay operators are used as variables for describing multidimensional systems, is clarified for the first time.
The relationship between need for closure and memory for schema-related information among younger and older adults

ABSTRACT Two studies were conducted to examine the relationships among need for closure (NFC) and schematic information processing in younger and older adults. The results show increased NFC to be associated with less schematic processing (i.e., less memory for schema-consistent items, and more memory for schema-irrelevant items, out of all items memorized correctly), among older than younger adults. The findings of the studies are interpreted as demonstrating the age-associated deficit in information processing consistent with the level of NFC. Moreover, the results indicate that positive mood may play a role in facilitating information processing consistent with the level of NFC among older and younger adults. Finally, we present a framework for predicting when older adults will and will not effectively use schematic processing, considered a compensatory strategy for decline in cognitive abilities.
HIV Controllers Maintain a Population of Highly Efficient Th1 Effector Cells in Contrast to Patients Treated in the Long Term

ABSTRACT HIV controllers are rare individuals who spontaneously control HIV replication in the absence of antiretroviral therapy. To identify parameters of the CD4 response that may contribute to viral control rather than merely reflect a persistently low viremia, we compared the T helper profiles in two groups of patients with more than 10 years of viral suppression: HIV controllers from the Agence Nationale de Recherche sur le SIDA et les Hépatites Virales (ANRS) CO18 cohort (n = 26) and efficiently treated patients (n = 16). Cells specific for immunodominant Gag and cytomegalovirus (CMV) peptides were evaluated for the production of 10 cytokines and cytotoxicity markers and were also directly quantified ex vivo by major histocompatibility complex (MHC) class II tetramer staining. HIV controller CD4+ T cells were characterized by a higher frequency of gamma interferon (IFN-γ) production, perforin+/CD107a+ expression, and polyfunctionality in response to Gag peptides. While interleukin 4 (IL-4), IL-17, and IL-21 production did not differ between groups, the cells of treated patients produced more IL-10 in response to Gag and CMV peptides, pointing to persistent negative immunoregulation after long-term antiretroviral therapy. Gag293 tetramer-positive cells were detected at a high frequency (0.12%) and correlated positively with IFN-γ-producing CD4+ T cells in the controller group (R = 0.73; P = 0.003). Tetramer-positive cells were fewer in the highly active antiretroviral therapy (HAART) group (0.04%) and did not correlate with IFN-γ production, supporting the notion of a persistent immune dysfunction in HIV-specific CD4+ T cells of treated patients. In conclusion, HIV controllers maintained a population of highly efficient Th1 effectors directed against Gag in spite of a persistently low antigenemia, while patients treated in the long term showed a loss of CD4 effector functions.
Effects of low power electronics & computer equipment on power quality at distribution grid-measurements and forecast

The paper discusses power quality issues in case of simultaneous connection of a large number of low power nonlinear loads, like personal computers (PC), TV receivers, audio and video devices and similar electronic devices to the grid. Such consumers are at one-hand sensitive devices that require a stable and high quality of supply, but on the other hand they are sources of harmonics. Operation of a single PC, as a representative of such loads, is modeled using Matlab-Simulink software and verified by measurement performed in laboratory. The simultaneous operation of large number of PC-s is investigated by measurement on real site. The measurements are performed at several location connected to the grids with large number of PC type consumers (Computer Center) and other low power loads (highly populated residential area). The results are analyzed and compared with IEEE Standard 519 limits. In order to get the forecast of possible future situation, the developed model has been used for prediction of the "worst" case i.e. the highest possible harmonic level. It is shown that single PC is a significant source of harmonics. If a large number of PCs is connected to the grid, than they may present a serious threat to power quality, i.e. they can be a possible source of some negative effects.