Miracle-dz/UniFAR-FTUs huggingface dataset:
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

Background: Genetic testing for hereditary cancer syndromes contributes to the medical management of patients who may be at increased risk of one or more cancers. BRCA1 and BRCA2 testing for hereditary breast and ovarian cancer is one such widely used test. However, clinical testing methods with high sensitivity for deleterious mutations in these genes also detect many unclassified variants, primarily missense substitutions. Methods: We developed an extension of the Grantham difference, called A-GVGD, to score missense substitutions against the range of variation present at their position in a multiple sequence alignment. Combining two methods, co-occurrence of unclassified variants with clearly deleterious mutations and A-GVGD, we analysed most of the missense substitutions observed in BRCA1. Results: A-GVGD was able to resolve known neutral and deleterious missense substitutions into distinct sets. Additionally, eight previously unclassified BRCA1 missense substitutions observed in trans with one or more deleterious mutations, and within the cross-species range of variation observed at their position in the protein, are now classified as neutral. Discussion: The methods combined here can classify as neutral about 50% of missense substitutions that have been observed with two or more clearly deleterious mutations. Furthermore, odds ratios estimated for sets of substitutions grouped by A-GVGD scores are consistent with the hypothesis that most unclassified substitutions that are within the cross-species range of variation at their position in BRCA1 are also neutral. For most of these, clinical reclassification will require integrated application of other methods such as pooled family histories, segregation analysis, or validated functional assay.
Merging Interactive Information Filtering and Recommender Algorithms – Model and Concept Demonstrator

Abstract To increase controllability and transparency in recommender systems, recent research has been putting more focus on integrating interactive techniques with recommender algorithms. In this paper, we propose a model of interactive recommending that structures the different interactions users can have with recommender systems. Furthermore, as a novel approach to interactive recommending, we describe a technique that combines faceted information filtering with different algorithmic recommender techniques. We refer to this approach as blended recommending. We also present an interactive movie recommender based on this approach and report on its user-centered design process, in particular an evaluation study in which we compared our system with a standard faceted filtering system. The results indicate a higher level of perceived user control, more detailed preference settings, and better suitability when the search goal is vague.
Heavy Metal Concentrations around a Hospital Incinerator and a Municipal Dumpsite in Ibadan City, South-West Nigeria

Studies to determine the concentrations of heavy metals in the surrounding soils and bottom ash of a hospital incinerator and a municipal dumpsite were carried out in Ibadan City, South-West Nigeria from November 2010 to January 2011. Samples were analyzed for Pb, Fe, Cu, Zn, Cr and Ni using Flame Atomic Absorption Spectrophotometry. Data obtained were analyzed using ANOVA, Students T-test and Pearson correlation. Mean concentrations of heavy metals in the sampled soils at the incinerator were 185.22±72.88, 16.22±13.13, 69.11±54.26, 2.33±2.53, 22.48±21.00 and 0.58±0.30 for Fe, Cu, Zn, Cr, Pb and Ni respectively, mean concentrations in the incinerator bottom ash were 5357.52±4671.89mg/Kg, 938.2±428.42mg/kg, 10670±3852.44mg/kg, 72.96±15.14mg/kg, 427.2±197.69mg/kg and 34.78±11.69mg/kg for Fe, Cu, Zn, Cr, Pb and Ni respectively and mean concentrations in sampled soils of municipal dumpsite were 290.67±78.66mg/Kg, 7.86±1.68mg/kg, 132.87±39.40mg/kg, 2.58±1.48mg/kg, 14.52±6.76mg/kg and 0.79±0.26mg/kg for Fe, Cu, Zn, Cr, Pb and Ni respectively. ANOVA showed that Fe (F = 11.254), Cu (F = 5.678), Zn (F = 20.399) and Pb (F = 3.679) had significant variations with sampling site, with bottom ash having the highest concentrations. The concentrations of heavy metals from both locations were higher than in the control site, indicating pollution. The heavy metal contents of the soils analyzed were all below the USEPA standard limits. However, the bottom ash contained high levels of Zn and Pb, that exceeded the standard limits. There is a need to appropriately dispose off the bottom ash from incinerators. @ JASEM
Load resistor as a worst-case parameter to investigate single-event transients in analog electronic devices

One of the main phenomena that commit the reliability of analog electronic systems working in the outer space is the presence of energetic ions that produce spurious transients after crossing the device. These pulses are transmitted to the network loading the device and can eventually lead to dangerous situations as it has been observed in some spatial missions. This paper shows how the value of the resistor loading the device can affect the shape of the transients.
Process entanglement as a neuronal anchorage mechanism to rough surfaces

The organization of neurons and glia cells on substrates composed of pristine carbon nanotube islands was investigated using high resolution scanning electron microscopy, immunostaining and confocal microscopy. Neurons were found bound and preferentially anchored to the rough surfaces; moreover, the morphology of the neuronal processes on the small, isolated islands of high density carbon nanotubes was found to be conspicuously curled and entangled. We further demonstrate that the roughness of the surface must match the diameter of the neuronal processes in order to allow them to bind. The results presented here suggest that entanglement, a mechanical effect, may constitute an additional mechanism by which neurons (and possibly other cell types) anchor themselves to rough surfaces. Understanding the nature of the interface between neurons and carbon nanotubes is essential to effectively harness carbon nanotube technology in neurological applications such as neuro-prosthetic and retinal electrodes.
Handwritten numeral recognition based on multiple feature extractors

A new method for handwritten numeral recognition based on four feature extractors (ranging from pure statistical to pure structural) is proposed. This set of features is transformed into a 209-variable feature vector. This transformation has led us to resolve the problem of taking into account structural features as the vector must contain as continuous as possible numerical values. Two feature-evaluation criteria, based on the inter-class/intra-class inertia ratio and the linear correlation matrix, have been investigated for the feature selection phase which makes it possible to reduce the feature space dimensionality to only 157 components instead of the 209 originals. Large-scale statistically-significant samples of handwritten well-segmented numerals, extracted from the NIST Data Base, have shown that this method provides good results. <<ETX>>
Learning movement primitive libraries through probabilistic segmentation

Movement primitives are a well-established approach for encoding and executing movements. While the primitives themselves have been extensively researched, the concept of movement primitive libraries has not received similar attention. Libraries of movement primitives represent the skill set of an agent. Primitives can be queried and sequenced in order to solve specific tasks. The goal of this work is to segment unlabeled demonstrations into a representative set of primitives. Our proposed method differs from current approaches by taking advantage of the often neglected, mutual dependencies between the segments contained in the demonstrations and the primitives to be encoded. By exploiting this mutual dependency, we show that we can improve both the segmentation and the movement primitive library. Based on probabilistic inference our novel approach segments the demonstrations while learning a probabilistic representation of movement primitives. We demonstrate our method on two real robot applications. First, the robot segments sequences of different letters into a library, explaining the observed trajectories. Second, the robot segments demonstrations of a chair assembly task into a movement primitive library. The library is subsequently used to assemble the chair in an order not present in the demonstrations.
Characterization of the Interaction of a Recombinant Soluble Neuroligin-1 with Neurexin-1β*

Neuroligins, proteins of the α/β-hydrolase fold family, are found as postsynaptic transmembrane proteins whose extracellular domain associates with presynaptic partners, proteins of the neurexin family. To characterize the molecular basis of neuroligin interaction with neurexin-β, we expressed five soluble and exportable forms of neuroligin-1 from recombinant DNA sources, by truncating the protein before the transmembrane span near its carboxyl terminus. The extracellular domain of functional neuroligin-1 associates as a dimer when analyzed by sedimentation equilibrium. By surface plasmon resonance, we established that soluble neuroligins-1 bind neurexin-1β, but the homologous α/β-hydrolase fold protein, acetylcholinesterase, failed to associate with the neurexins. Neuroligin-1 has a unique N-linked glycosylation pattern in the neuroligin family, and glycosylation and its processing modify neuroligin activity. Incomplete processing of the protein and enzymatic removal of the oligosaccharides chain or the terminal sialic acids from neuroligin-1 enhance its activity, whereas deglycosylation of neurexin-1β did not alter its association capacity. In particular, the N-linked glycosylation at position 303 appears to be a major determinant in modifying the association with neurexin-1β. We show here that glycosylation processing of neuroligin, in addition to mRNA splicing and gene selection, contributes to the specificity of the neurexin-β/neuroligin-1 association.
Scaling properties of European research units

A quantitative characterization of the scale-dependent features of research units may provide important insight into how such units are organized and how they grow. The relative importance of top-down versus bottom-up controls on their growth may be revealed by their scaling properties. Here we show that the number of support staff in Scandinavian research units, ranging in size from 20 to 7,800 staff members, is related to the number of academic staff by a power law. The scaling exponent of ≈1.30 is broadly consistent with a simple hierarchical model of the university organization. Similar scaling behavior between small and large research units with a wide range of ambitions and strategies argues against top-down control of the growth. Top-down effects, and externally imposed effects from changing political environments, can be observed as fluctuations around the main trend. The observed scaling law implies that cost-benefit arguments for merging research institutions into larger and larger units may have limited validity unless the productivity per academic staff and/or the quality of the products are considerably higher in larger institutions. Despite the hierarchical structure of most large-scale research units in Europe, the network structures represented by the academic component of such units are strongly antihierarchical and suboptimal for efficient communication within individual units.
Nephrotoxicity from contrast media: attenuation with theophylline.

PURPOSE To determine if depression of creatinine clearance after administration of contrast medium may be prevented with theophylline. MATERIALS AND METHODS A nonionic, low-osmolality contrast medium (iopamidol) or an ionic, high-osmolality contrast medium (sodium diatrizoate) was administered to 93 patients. Before the examination, these patients were given theophylline or a placebo orally. There were also 30 patients who received an adenosine-uptake inhibitor (dipyridamole). Creatinine clearance and urinary adenosine levels were measured before and after angiography. RESULTS Creatinine clearance decreased 18% +/- 4 in the placebo-iopamidol group but did not decrease in the theophylline group; urinary adenosine increased 67% +/- 7. Creatinine clearance decreased 42% +/- 5 in the placebo-sodium diatrizoate group and decreased 24% +/- 3 in the theophylline group; urinary adenosine increased 119% +/- 8. In the dipyridamole group in which iopamidol was given, urinary adenosine increased 96% +/- 7 and creatinine clearance decreased 37% +/- 5. CONCLUSION Intrarenal adenosine can be implicated in the pathogenesis of hypertonic contrast medium nephrotoxicity.
Thrombophilia and varicella zoster in children

Abstract From 2005 to 2011, 25 children of both sexes (13 boys and 12 girls, mean age 7.8 ± 2.5 years, 5–12.4 years) with acute varicella zoster virus (VZV) infection were selected. Five patients showed venous thromboembolism characterized by deep venous thrombosis (DVT). Comparison of activated partial thromboplastin time, antithrombin III, D-dimer, lupus anticoagulant, free S protein (PS), C protein, and antiphospholipid and PS antibodies was performed on children with acute VZV and DVT (group I), acute uncomplicated VZV (group II), and 30 healthy controls of both sexes (15 boys and 15 girls, mean age 7.5 ± 2.6 years, group III). Genetic thrombophilic mutations (Factor V Leiden, MTHFR C677T, and Prothrombin G20210A) were evaluated. Coagulation disorders and PS antibody were found in children with acute VZV (groups I and II). Significant differences were shown among the three groups (P < 0.05). Acute VZV infection could be associated with coagulation disorders and production of inhibitory PS antibodies in many uncomplicated cases.
Comparative analysis of two torque control strategies for 6/4 switched reluctance machine

This work developed two direct torque control strategies to the switched reluctance machine. The direct torque control based on space vector control and direct instantaneous torque control. The studio is performed using the asymmetric bridge converter that drives the three-phase motor of six poles in the stator and four poles on the rotor. At the beginning shows the principles of operation of the switched reluctance machine for developing electromagnetic torque, the mathematical principles and the keys of switching strategies for controlling in the space vector, as well as the operating principles of the direct instantaneous torque control, at the end is compared, the results of both direct torque control strategies. The simulations were performed in the software SimPowerSystems® of Matlab/Simulink®.
Three-Dimensional Echocardiography and Right Ventricular Function: The Beauty and the Beast?

In the past decades, left ventricular (LV) size and function have been the focus of different noninvasive imaging studies. Normal anatomy and function and abnormalities seen in different cardiac conditions are well defined. In the same way, normal reference values are well known and established for its use in clinical practice. However, right ventricular (RV) anatomic and functional noninvasive evaluation has been neglected for many years. See Article by Nagata et al This is, in part, because of the relative underestimation of clinical importance of RV function compared with that of LV function and also to the specific anatomic and functional features of the RV, which makes its noninvasive evaluation more challenging. The RV has a crescent shape around the LV with 3 different well-defined parts: the inflow, the outflow, and the apical region, which cannot be seen at the same time using 2-dimensional (2D) imaging techniques. Moreover, myocardial fiber disposition is different compared with that of the LV: the RV has a poorly developed circumferential mid layer and a longitudinal disposition of endocardial fibers. This way, the RV contracts differently, in a peristaltic fashion from the inflow to the outflow area. For this reason, among others, methods to assess LV function (specially using echocardiography) are seldom useful in the evaluation of the RV function. Finally, its anterior position in the chest creates additional difficulties because of suboptimal image quality in a high percentage of patients.1,2 Despite these limitations, in recent years, it has become apparent that RV dilatation and dysfunction have prognostic importance in different clinical scenarios. Imaging techniques have …
Gaziantep Bölgesinde Yetişkin ve Çocuklarda

Yazışma Adresi: Dr.Necat YILMAZ Biyokimya ve Klinik Biyokimya AD TR-27310, GAZİANTEP ¶Bu araştırma verileri aşağıda verilen kongrelerde poster olarak sunulmuştur. 1. Yılmaz N, Bayraktaroğlu Z, Özaslan J. Efficiancy of Some In-vitor Allergy Screening Tests in Children and Adults. 7th Meeting of the Balkan Journal of Clinical Laboratory Federation. 4-7 Nonember, 1999. Letoonia Golf Resort Hotel, Belek Antalya, Turkey. Balkan Journal of Clinical Laboratory, VI, 99, 1, 59. 2. Union of National Pediatric Societies of Turkish Republics. V Regional Congress of Pediatric Societies of Turkish Speaking Countries with International Participation Bishkek, Kyrgyzstan, 25-28. September, 1999, 77. Özet
Pulmonary function parameters as prognostic factors in advanced non-small cell lung cancer.

AIM To investigate the impact of some parameters of lung function (forced expiratory volumen in 1 second - FEV1, forced vital capacity - FVC and ratio FEV1/FVC%) on survival in patients with advanced non-small cell lung cancer (NSCLC). METHODS It retrospectively analyzed data of 155 patients with NSCLC receiving second-line treatment in the Clinic for Lung Diseases, Clinical Center Nis, Serbia, from October 2009 to December 2012. Fifteen potential prognostic variables were subjected to univariate and multivariate analysis to investigate prognostic impact to survival. RESULTS Among the total of 155 patients, 124 (80%) were males. The most frequent was squamous carcinoma, 86 (55,5%). Mean FEV1 was 1.89 ± 0.71 L (61.8%), mean FVC 2.95 ± 0.8 L (77.2%) and mean FEV1/FVC% was 63.6%. In a multivariate analysis using Cox regression hazard model (hazard ratio, HR), independent prognostic factors for overall survival (OS) were: FEV1 less than 50% of predicted HR= 4.513, 95% confidence interval (CI): 1.433-14.216 (p=0.010), performance status 2 (HR= 0.090, CI= 0.035-0.230 (p=0.000) and weight loss more than 5 % (HR= 0.162, CI= 0.068-0.382 (p=0.000). CONCLUSION FEV1 in patients with advanced NSCLC receiving chemotherapy is an important independent factor that can predict survival. There was close relationship between impaired lung function and lung cancer patients survival.
Variola and Monkeypox Viruses Utilize Conserved Mechanisms of Virion Motility and Release That Depend on Abl and Src Family Tyrosine Kinases

ABSTRACT Vaccinia virus (VacV) enters mammalian cells, replicates extranuclearly, and produces virions that move to the cell surface along microtubules, fuse with the plasma membrane, and move from infected cells toward apposing cells on actin-filled membranous protrusions or actin tails. To form actin tails, cell-associated enveloped virions (CEV) require Abl and Src family tyrosine kinases. Furthermore, release of CEV from the cell requires Abl but not Src family tyrosine kinases and is blocked by imatinib mesylate (STI-571; Gleevec), an Abl family kinase inhibitor used to treat chronic myelogenous leukemia in humans. Here we demonstrate that the Poxviridae family members monkeypox virus (MPX) and variola virus (VarV) use conserved mechanisms for actin motility and extracellular enveloped virion (EEV) release. Furthermore, we show that imatinib mesylate is effective in a mouse model of infection with VacV, whether delivered prophylactically or postinfection, and restricts spread of virions from the site of inoculation. While inhibitors of both Src and Abl family kinases, such as dasatinib (BMS-354825; Sprycel), are effective in limiting dissemination of VacV, VarV, and MPX in vitro, members of this class of drugs appear to have immunosuppressive effects in vivo that preclude their use as anti-infectives. Together, these data suggest a possible utility for imatinib mesylate in treating smallpox or MPX infections or complications associated with vaccination.
The impact of P-O Fit and P-J Fit on work engagement-the moderating role of LMX

Objective: To explore the influence of P-O fit and P-J fit on work engagement and the moderating role of leader-member exchange (LMX). Methods: Correlation and hierarchical regression were used to analyze the surveyed data collected from 214 employees through online questionnaires. Results: a. Control variables considered, P-O fit and P-J fit were positively and significantly correlated with work engagement; b. as LMX increased, the influence of P-J fit on work engagement increased; the influence of P-O fit on work engagement was not affected; c. as LMX increased, the influence of N-S fit on work engagement increased; the influence of D-A fit on work engagement was not affected. Conclusion: LMX moderated the relationship between P-J fit and work engagement and N-S fit and work engagement.
CYTOGENETICS OF DOWN'S SYNDROME (MONGOLISM). 3. FREQUENCY OF INTERCHANGE OF TRISOMICS AND MUTATION RATE OF CHROMOSOME INTERCHANGES.

An attempt is made to obtain an estimate of the frequency of interchange trisomic Down’s syndrome within the general population. This estimate is used to calculate the interchange mutation rate (τ) involving chromosome 21 and resulting in the formation of interchange trisomics. Inadequacies and shortcomings of the data used, the assumptions required and the method employed are discussed. A maximum estimate of 2.71 × 10–5 (1 in 37,000) and a minimum of 2.07 × 10–5 (1 in 48,000) interchanges per chromosome 21, per gamete, per generation, resulting in the formation of interchange trisomics is obtained.
Suppression of Interferon (IFN)-inducible Genes and IFN-mediated Functional Responses in BCR-ABL-expressing Cells*

The interferons (IFNs) are cytokines that play key roles in host defense against viral infections and immune surveillance against cancer. We report that BCR-ABL transformation of hematopoietic cells results in suppression of IFN-dependent responses, including transcription of IFN-inducible genes and generation of IFN-mediated antiviral effects. BCR-ABL transformation suppresses expression of several IFN-regulated genes containing IFN-sensitive response element (ISRE) or GAS elements in their promoters, including Isg15, Irf1, Irf9, and Ifit2 (interferon-induced protein with tetratricopeptide repeats 2). Suppression of transcription of ISRE-containing genes is also seen in cells expressing various BCR-ABL kinase domain mutants, including T315I, H396P, Y253F, and E255K, but not kinase-defective BCR-ABL. Such effects are associated with impaired IFN-dependent phosphorylation of Stat1 on Tyr701 and Stat3 on Tyr705 and defective binding of Stat complexes to ISRE or GAS elements. Beyond suppression of Stat activities, BCR-ABL inhibits IFN-inducible phosphorylation/activation of the p38 MAPK, suggesting a dual mechanism by which this abnormal fusion protein blocks IFN transcriptional responses. The inhibitory activities of BCR-ABL ultimately result in impaired IFNα-mediated protection against encephalomyocarditis virus infection and reversal of IFN-dependent growth suppression. Altogether, our data provide evidence for a novel mechanism by which BCR-ABL impairs host defenses and promotes malignant transformation, involving dual suppression of IFN-activated signaling pathways.