Miracle-dz/UniFAR-FTUs huggingface dataset:
Genet ics Analysis of the Three Most Common MEFV Mutations in 412 Patients with Familial Mediterranean Fever

Background: Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent attacks of fever and serositis. The disease is caused by mutations in the MEFV gene, presumed to act as a down-regulator of inflammation within the polymorphonuclear cells. Objectives: To present the results of 412 FMF patients genotyped for three MEFV mutations, M694V, V726A and E148Q. Results: The most frequent mutation, M694V, was detected in 47% of the carrier chromosomes. This mutation, especially common among North African Jewish FMF patients, was not found in any of the Ashkenazi (East European origin) patients. Overall, one of the three mutations was detected in 70% of the carrier chromosomes. M694V/ M694V was the most common genotype (27%), followed by M694V/ V726A (16%). The full genotype could be assessed in 57% of the patients, and one disease-causing mutation in an additional 26%. Only one patient with the E148Q/E148Q genotype was detected despite a high carrier rate for this mutation in the Jewish population, a finding consistent with a low penetrance of this genotype. The M694V/M694V genotype was observed in 15 patients with amyloidosis compared to 4 amyloidosis patients with other genotypes (P < 0.0001). Conclusions: Because of low penetrance and as yet other undetermined reasons, mutation analysis of the most common MEFV mutations supports a clinical diagnosis in only about 60% of patients with definite FMF.
Relationship between falls, knee osteoarthritis, and health-related quality of life: data from the Osteoarthritis Initiative study

Background The purpose of this study was to examine the relationship between self-reported falls, doctor-diagnosed knee osteoarthritis (OA), and health-related quality of life (HRQoL). We hypothesized that falls and knee OA would be associated with poor HRQoL on both disease-specific and generic measures. Methods This cross-sectional study used data from the publicly available Osteoarthritis Initiative data sets. A total of 4,484 subjects aged 45–79 years at baseline were divided into three subpopulations: those who had neither a history of falling nor doctor-diagnosed knee OA; those who had either a self-reported history of falling or doctor-diagnosed knee OA; and those who had both a self-reported history of falling and doctor-diagnosed knee OA. HRQoL was assessed using both disease-specific and generic measures. Multiple regression analyses were used to examine the relationship between self-reported falls, doctor-diagnosed knee OA, and HRQoL assessed using the Knee Injury and Osteoarthritis Outcome Score-Quality of Life (KOOS-QoL) subscale and two Short Form-12 (SF-12) summary scales. The models were adjusted for participant sociodemographic, lifestyle, and clinical characteristics. Results Falls and knee OA were significantly associated with lower scores on the KOOS-QoL (β= −34.4, standard error 2.27, P≤0.0001) and on the physical component scale of the SF-12 (β= −9.44, standard error 0.90, P<0.0001). No significant relationship was found with the mental component scale score when adjusted for sociodemographic, lifestyle, and clinical characteristics. Conclusion When compared with those having neither a self-reported history of falling nor doctor-diagnosed knee OA and those with a self-reported history of falling or doctor-diagnosed knee OA, persons with both conditions (falls and knee OA) had significantly lower KOOS-QoL and physical component scale scores after adjusting for sociodemographic, lifestyle, and clinical characteristics. Future research should assess potential mediating factors in an effort to improve HRQoL in persons with knee OA who are at high risk of falling.
A Systemic Framework for the Field of Data Mining and Knowledge Discovery

This paper proposes a systemic framework that attempts to define the domain and major areas of data mining and knowledge discovery (DMKD). Grounded theory approach, a qualitative method that inductively develops an understanding of phenomena, is adopted to build the framework. Using a large collection of DMKD literature, including DMKD journals, conference proceedings, syllabuses, and dissertations, this study develops a framework of eight main areas for the field: (1) foundations of DMKD; (2) learning methods & techniques; (3) mining complex data; (4) high-performance & distributed data mining; (5) data mining software & systems; (6) data mining process & project; (7) data mining applications; (8) data mining tasks. The last area is suggested as the central theme of the field
An Autonomic Approach for Replication of Internet-based Services

As more and more applications are deployed as Internet-based services, they have to be available anytime anywhere in a seamless manner. This requires the underlying infrastructure to provide scalability, fault tolerance and fast response times. While replicating the services and the data they access across sites that are located in different geographic regions is a promising means to achieve these requirements, data consistency is challenging if data continuously changes and queries are dynamic by nature, as is typical for e-commerce applications.Thus, current WAN replication solutions either trade performance for data consistency or are notable to scale in wide-area settings. In this paper, we present a novel approach to provide performance and consistency for Internet services. One of the main contributions is an autonomic replica placement module that places data copies only on servers close to clients that actually need them. The goal is to find the right trade-off between fast local access and the overhead of keeping data copies consistent. As data access patterns might change over time, reconfiguration is done periodically and online, i.e., allowing sites to receive new data copies or drop data copies while at the same time transaction processing continues in the system.
Modality effects in language switching: Evidence for a bimodal advantage

In language switching, it is assumed that in order to produce a response in one language, the other language must be inhibited. In unimodal (spoken-spoken) language switching, the fact that the languages share the same primary output channel (the mouth) means that only one language can be produced at a time. In bimodal (spoken-signed) language switching, however, it is possible to produce both languages simultaneously. In our study, we examined modality effects in language switching using multilingual subjects (speaking German, English, and German Sign Language). Focusing on German vocal responses, since they are directly compatible across conditions, we found shorter reaction times, lower error rates, and smaller switch costs in bimodal vs. unimodal switching. This result suggests that there are different inhibitory mechanisms at work in unimodal and bimodal language switching. We propose that lexical inhibition is involved in unimodal switching, whereas output channel inhibition is involved in bimodal switching.
The Prognostic Value of Left Atrial Peak Reservoir Strain in Acute Myocardial Infarction Is Dependent on Left Ventricular Longitudinal Function and Left Atrial Size

Background—Peak atrial longitudinal strain (PALS) during the reservoir phase has been proposed as a measure of left atrium function in a range of cardiac conditions, with the potential for added pathophysiological insight and prognostic value. However, no studies have assessed the interrelation of PALS and left ventricular longitudinal strain (global longitudinal strain) in large-scale populations in regard to prognosis. Methods and Results—We prospectively included 843 patients (mean age 62.1±11.8; 74% male) with acute myocardial infarction and measured global longitudinal strain, left atrium volumes, and PALS within 48 hours of admission. PALS was related to a composite outcome of death and heart failure hospitalization. Reduced PALS was associated with hypertension, diabetes mellitus, and Killip class >1 (P<0.05 for all). Reduced PALS was associated with impairment of all measures of left ventricular systolic and diastolic function, and the correlation between global longitudinal strain and PALS was highly significant (P<0.001; r=–0.71). During follow-up (median 23.0 months Q1–Q3, 16.8–26.0), a total of 76 patients (9.0%) reached the composite end point of which 47 patients died (5.6%), and 29 patients were hospitalized for heart failure (3.4%). PALS was significantly associated with outcome (hazard ratio [HR], 0.88; 95% confidence interval [CI], 0.85–0.90; P<0.001); however, no independent effect of PALS (HR, 1.00; 95% CI, 0.94–1.05; P=0.87) was found when adjusting for global longitudinal strain (HR, 1.20; 95% CI, 1.09–1.33; P<0.001), maximum left atrium volume before mitral valve opening (HR, 1.02; 95% CI, 1.01–1.04; P=0.006), and age (HR, 1.06; 95% CI, 1.03–1.08; P<0.001). Conclusions—PALS provides a composite measure of left ventricular longitudinal systolic function and maximum left atrium volume before mitral valve opening, and as such contains no added information when these readily obtained measures are known.
Historic records and GIS applications for flood risk analysis in the Salento peninsula (southern Italy)

Abstract. The occurrence of calamitous meteoric events represents a current problem of the Salento peninsula (Southern Italy). In fact, flash floods, generated by very intense rainfall, occur not only in autumn and winter, but at the end of summer as well. These calamities are amplified by peculiar geological and geomorphological characteristics of Salento and by the pollution of sinkholes. Floodings affect often large areas, especially in the impermeable lowering zones. These events cause warnings and emergency states, involving people as well as socio-economic goods. A methodical investigation based on the historic flood records and an analysis of the geoenvironmental factors have been performed, using a Geographic Information System (GIS) methodology for database processing in order to identify the distribution of areas with different risk degrees. The data, referring to events that occurred from 1968 to 2004, have been collected in a database, the so-called IPHAS (Salento Alluvial PHenomena Inventory), extracted in an easily consultable table. The final goal is the development of a risk map where the areas that are affected by floodings are included between small ridges, the so-called "Serre". More than 50% of the Salento peninsula shows high or very high risk values. The numerous maps that were utilized and generated represent an important basis in order to quantify the flood risk, according to the model using historic records.
Epidemiologic and Molecular Characterization of an Outbreak of Candida parapsilosis Bloodstream Infections in a Community Hospital

ABSTRACT Candida parapsilosis is an important cause of bloodstream infections in the health care setting. We investigated a large C. parapsilosis outbreak occurring in a community hospital and conducted a case-control study to determine the risk factors for infection. We identified 22 cases of bloodstream infection with C. parapsilosis: 15 confirmed and 7 possible. The factors associated with an increased risk of infection included hospitalization in the intensive care unit (adjusted odds ratio, 16.4; 95% confidence interval, 1.8 to 148.1) and receipt of total parenteral nutrition (adjusted odds ratio, 9.2; 95% confidence interval, 0.9 to 98.1). Samples for surveillance cultures were obtained from health care worker hands, central venous catheter insertion sites, and medical devices. Twenty-six percent of the health care workers surveyed demonstrated hand colonization with C. parapsilosis, and one hand isolate was highly related to all case-patient isolates by tests with the DNA probe Cp3-13. Outbreak strain isolates also demonstrated reduced susceptibilities to fluconazole and voriconazole. This largest known reported outbreak of C. parapsilosis bloodstream infections in adults resulted from an interplay of host, environment, and pathogen factors. Recommendations for control measures focused on improving hand hygiene compliance.
Regional Specification of Sgns Regional Specification of Sgns Regional Specification of Sgns

Title: Regional specification of threshold sensitivity and response time in CBA/CaJ mouse spiral ganglion neurons. Authors: Qing Liu and Robin L. Davis Affiliation: Department of Cell Biology & Neuroscience, Rutgers University, Piscataway, N.J., USA. Running Head: Regional specification of SGNs Contact Information: Dr. Robin L. Davis, Department of Cell Biology & Neuroscience, 604 Allison Road, Nelson Laboratories, Rutgers University, Piscataway, NJ 08854, rldavis@rci.rutgers. edu. Page 1 of 32 Articles in PresS. J Neurophysiol (August 22, 2007). doi:10.1152/jn.00284. 2007
The FurA regulon in Anabaena sp. PCC 7120: in silico prediction and experimental validation of novel target genes

In the filamentous cyanobacterium Anabaena sp. PCC 7120, the ferric uptake regulator FurA functions as a global transcriptional regulator. Despite several analyses have focused on elucidating the FurA-regulatory network, the number of target genes described for this essential transcription factor is limited to a handful of examples. In this article, we combine an in silico genome-wide predictive approach with experimental determinations to better define the FurA regulon. Predicted FurA-binding sites were identified upstream of 215 genes belonging to diverse functional categories including iron homeostasis, photosynthesis and respiration, heterocyst differentiation, oxidative stress defence and light-dependent signal transduction mechanisms, among others. The probabilistic model proved to be effective at discerning FurA boxes from non-cognate sequences, while subsequent electrophoretic mobility shift assay experiments confirmed the in vitro specific binding of FurA to at least 20 selected predicted targets. Gene-expression analyses further supported the dual role of FurA as transcriptional modulator that can act both as repressor and as activator. In either role, the in vitro affinity of the protein to its target sequences is strongly dependent on metal co-regulator and reducing conditions, suggesting that FurA couples in vivo iron homeostasis and the response to oxidative stress to major physiological processes in cyanobacteria.
Image Representation of the Subband Power Distribution for Robust Sound Classification

This paper proposes a robust sound event classiﬁcation method, based on a selective image feature driven from the novel sub-band power distribution (SPD), which represents the distribution of power over frequency components. This method is an extension of our previous work, which was motivated by the visual perception of the spectrogram to produce a robust feature for sound classiﬁcation. Unlike the conventional spectrogram, the proposed SPD representation is invariant to time-shifting and therefore suitable for real scenarios where the detected sound clips are not always balanced. Furthermore, we develop a missing feature classiﬁcation method, which automatically selects the sparse, representative areas of the signal from the noisy SPD image of the sound clip. The method is tested on a large database containing 50 sound classes, under four different noise environments, varying from clean to severe noise conditions. A signiﬁcant improvement in performance was obtained in mismatched conditions, producing an average classiﬁcation accuracy of 87 . 5% in the 0dB noise condition.
Semisimple restrictions from GL(n) to GL(n-1)

We obtain a criterion for the restriction of an irreducible rational GL(n)module to the naturally embedded subgroup GL(n − 1) to be semisimple, over an arbitrary algebraically closed field. In that case, we describe the composition factors of the restriction explicitly. As an application, we classify the completely splittable representations of general linear groups and give an exact character formula for these modules.
Broad-band non-thermal emission from molecular clouds illuminated by cosmic rays from nearby supernova remnants

Molecular clouds are expected to emit non-thermal radiation due to cosmic ray interactions in the dense magnetized gas. Such emission is amplified if a cloud is located close to an accelerator of cosmic rays and if energetic particles can leave the accelerator site and diffusively reach the cloud. We consider here a situation in which a molecular cloud is located in the proximity of a supernova remnant which is efficiently accelerating cosmic rays and gradually releasing them in the interstellar medium. We calculate the multiwavelength spectrum from radio to gamma rays which is emerging from the cloud as the result of cosmic ray interactions. The total energy output is dominated by the gamma-ray emission, which can exceed the emission in other bands by an order of magnitude or more. This suggests that some of the unidentified TeV sources detected so far, with no obvious or very weak counterparts in other wavelengths, might be in fact associated with clouds illuminated by cosmic rays coming from a nearby source. Moreover, under certain conditions, the gamma-ray spectrum exhibits a concave shape, being steep at low energies and hard at high energies. This fact might have important implications for the studies of the spectral compatibility of GeV and TeV gamma-ray sources.
COX-2 Inhibition Reduces Brucella Bacterial Burden in Draining Lymph Nodes

Brucella is a Gram-negative facultative intracellular bacterium responsible for a chronic disease known as brucellosis, the most widespread re-emerging zoonosis worldwide. Establishment of a Th1-mediated immune response characterized by the production of IL-12 and IFNγ is essential to control the disease. Leukotrienes derived from arachidonic acid (AA) metabolism are known to negatively regulate a protective Th1 immune response against bacterial infections. Here, using genomics approaches we demonstrate that Brucella abortus strongly stimulates the prostaglandin (PG) pathway in dendritic cells (DC). We also show an induction of AA production by infected cells. This correlates with the expression of Ptgs2, a gene encoding the downstream cyclooxygenase-2 (COX-2) enzyme in infected DC. By comparing different infection routes (oral, intradermal, intranasal and conjunctival), we identified the intradermal inoculation route as the more potent in inducing Ptgs2 expression but also in inducing a local inflammatory response in the draining cervical lymph nodes (CLN). NS-398, a specific inhibitor of COX-2 enzymatic activity decreased B. melitensis burden in the CLN after intradermal infection. This effect was accompanied by a decrease of Il10 and a concomitant increase of Ifng expression. Altogether, these results suggest that Brucella has evolved to take advantage of the PG pathway in the harsh environment of the CLN in order to persist and subvert immune responses. This work also proposes that novel strategies to control brucellosis may include the use of COX-2 inhibitors.
Functional Roles of Protein Nitration in Acute and Chronic Liver Diseases

Nitric oxide, when combined with superoxide, produces peroxynitrite, which is known to be an important mediator for a number of diseases including various liver diseases. Peroxynitrite can modify tyrosine residue(s) of many proteins resulting in protein nitration, which may alter structure and function of each target protein. Various proteomics and immunological methods including mass spectrometry combined with both high pressure liquid chromatography and 2D PAGE have been employed to identify and characterize nitrated proteins from pathological tissue samples to determine their roles. However, these methods contain a few technical problems such as low efficiencies with the detection of a limited number of nitrated proteins and labor intensiveness. Therefore, a systematic approach to efficiently identify nitrated proteins and characterize their functional roles is likely to shed new insights into understanding of the mechanisms of hepatic disease pathophysiology and subsequent development of new therapeutics. The aims of this review are to briefly describe the mechanisms of hepatic diseases. In addition, we specifically describe a systematic approach to efficiently identify nitrated proteins to study their causal roles or functional consequences in promoting acute and chronic liver diseases including alcoholic and nonalcoholic fatty liver diseases. We finally discuss translational research applications by analyzing nitrated proteins in evaluating the efficacies of potentially beneficial agents to prevent or treat various diseases in the liver and other tissues.
Efficient Privacy-Preserving Authentication in Wireless Mobile Networks

Secure authentication in roaming services is being designed to allow legal users to get access to wireless network services when they are away from their home location. Recently, to protect the location privacy of users, there have been researches on anonymous authentication. In particular, anonymous authentication without the participation of home servers has attracted considerable interest owing to its influence on the communication efficiency. Unfortunately, the previously proposed anonymous authentication schemes have serious practical shortcomings, such as high communication and computation costs and huge revocation lists. In this paper, we propose a novel three-round anonymous roaming protocol that does not require the participation of home servers. The proposed protocol uses a pseudo-identity-based signcryption scheme to perform efficient revocation with a short revocation list and efficient authentication. The use of a signcryption algorithm minimizes the number of pseudo-identities stored in a Subscriber Identification Module (SIM) card with limited storage capacity. The authentication efficiency is also higher than that of existing protocols. The proposed protocol is formally proved in the Canetti-Krawczyk (CK) model.
Security management with scalable distributed IP traceback

In this paper we propose an IP traceback mechanism based on deterministic packet marking and logging, using protected nodes set to reduce logged data amount. The proposed scheme exploits the fact that the number of nodes that may be under attack is usually limited to a small fraction of total nodes in the Internet, greatly reducing storage requirements by logging only the traffic destined to this fraction of nodes, thus meeting the hardware limitations of high speed core routers. Before logging at the traceback-enabled router every packet is checked whether it is destined to a host in the protected nodes set by using bloom filter. Protected nodes set and list of traceback-enabled routers is managed by security management infrastructure, which can be mirrored to avoid introduction of single point of failure. Maintaining the list of traceback-enabled routers allows performing neighbor discovery in the overlay network, which is required to detect faked identification field value in IP header by an attacker. By adding initialization stage and infrastructure the proposed scheme can provide constant complexity of per-packet processing and much longer bloom filter refresh period comparing to other approaches that use logging paradigm. Performance evaluation shows that the proposed IP traceback mechanism can be implemented in the real Internet with scalability and good deployment feasibility in terms of false positive ratio and memory usage.
The Causal Effect of Education on Aggregate Income

Empirical studies assume that the macro Mincer return on schooling is con- stant across countries. Using a large sample of countries this paper shows that countries with a better quality of education have on average relatively higher macro Mincer coeficients. As rich countries have on average better educational quality, differences in human capital between countries are larger than has been typically assumed in the development accounting literature. Consequently, factor accumulation explains a considerably larger share of income differences across countries than what is usually found.