Miracle-dz/UniFAR-FTUs huggingface dataset:
An Interleukin 13 Polymorphism Is Associated with Symptom Severity in Adult Subjects with Ever Asthma

Different genes are associated with categorical classifications of asthma severity. However, continuous outcomes should be used to catch the heterogeneity of asthma phenotypes and to increase the power in association studies. Accordingly, the aim of this study was to evaluate the association between single nucleotide polymorphisms (SNPs) in candidate gene regions and continuous measures of asthma severity, in adult patients from the general population. In the Gene Environment Interactions in Respiratory Diseases (GEIRD) study (www.geird.org), 326 subjects (aged 20–64) with ever asthma were identified from the general population in Verona (Italy) between 2007 and 2010. A panel of 236 SNPs tagging 51 candidate gene regions (including one or more genes) was analysed. A symptom and treatment score (STS) and pre-bronchodilator FEV1% predicted were used as continuous measures of asthma severity. The association of each SNP with STS and FEV1% predicted was tested by fitting quasi-gamma and linear regression models, respectively, with gender, body mass index and smoking habits as potential confounders. The Simes multiple-test procedure was used for controlling the false discovery rate (FDR). SNP rs848 in the IL13 gene region (IL5/RAD50/IL13/IL4) was associated with STS (TG/GG vs TT genotype: uncorrected p-value = 0.00006, FDR-corrected p-value = 0.04), whereas rs20541 in the same gene region, in linkage disequilibrium with rs848 (r2 = 0.94) in our sample, did not reach the statistical significance after adjusting for multiple testing (TC/CC vs TT: uncorrected p-value = 0.0003, FDR-corrected p-value = 0.09). Polymorphisms in other gene regions showed a non-significant moderate association with STS (IL12B, TNS1) or lung function (SERPINE2, GATA3, IL5, NPNT, FAM13A) only. After adjusting for multiple testing and potential confounders, SNP rs848 in the IL13 gene region is significantly associated with a continuous measure of symptom severity in adult subjects with ever asthma.
The Relationship Between Poverty Level and Urban African American Parents’ Awareness of Evidence-Based Interventions for Children With Autism Spectrum Disorders: Preliminary Data

This preliminary investigation examined the relationship between poverty level and parental awareness of evidence-based interventions in urban African American parents of children with autism spectrum disorder (ASD). Based on responses to a survey, more parents above the Federal Poverty Level (FPL) reported awareness of the interventions than parents who were below the FPL. Similarly, poverty level was related to parental awareness of the educational and therapeutic services their child received.
Layout and Language: Integrating Spatial and Linguistic Knowledge for Layout Understanding Tasks

Complex documents stored in a flat or partially marked up file format require layout sensitive preprocessing before any natural language processing can be carried out on their textual content. Contemporary technology for the discovery of basic textual units is based on either spatial or other content insensitive methods. However, there are many cases where knowledge of both the language and layout is required in order to establish the boundaries of the basic textual blocks. This paper describes a number of these cases and proposes the application of a general method combining knowledge about language with knowledge about the spatial arrangement of text. We claim that the comprehensive understanding of layout can only be achieved through the exploitation of layout knowledge and language knowledge in an inter-dependent manner.
Genetic correction and analysis of induced pluripotent stem cells from a patient with gyrate atrophy

Gene-corrected patient-specific induced pluripotent stem (iPS) cells offer a unique approach to gene therapy. Here, we begin to assess whether the mutational load acquired during gene correction of iPS cells is compatible with use in the treatment of genetic causes of retinal degenerative disease. We isolated iPS cells free of transgene sequences from a patient with gyrate atrophy caused by a point mutation in the gene encoding ornithine-δ-aminotransferase (OAT) and used homologous recombination to correct the genetic defect. Cytogenetic analysis, array comparative genomic hybridization (aCGH), and exome sequencing were performed to assess the genomic integrity of an iPS cell line after three sequential clonal events: initial reprogramming, gene targeting, and subsequent removal of a selection cassette. No abnormalities were detected after standard G-band metaphase analysis. However, aCGH and exome sequencing identified two deletions, one amplification, and nine mutations in protein coding regions in the initial iPS cell clone. Except for the targeted correction of the single nucleotide in the OAT locus and a single synonymous base-pair change, no additional mutations or copy number variation were identified in iPS cells after the two subsequent clonal events. These findings confirm that iPS cells themselves may carry a significant mutational load at initial isolation, but that the clonal events and prolonged cultured required for correction of a genetic defect can be accomplished without a substantial increase in mutational burden.
Staphylococcus aureus ClpC Is Required for Stress Resistance, Aconitase Activity, Growth Recovery, and Death

ABSTRACT The ability of Staphylococcus aureus to adapt to various conditions of stress is the result of a complex regulatory response. Previously, it has been demonstrated that Clp homologues are important for a variety of stress conditions, and our laboratory has shown that a clpC homologue was highly expressed in the S. aureus strain DSM20231 during biofilm formation relative to expression in planktonic cells. Persistence and long-term survival are a hallmark of biofilm-associated staphylococcal infections, as cure frequently fails even in the presence of bactericidal antimicrobials. To determine the role of clpC in this context, we performed metabolic, gene expression, and long-term growth and survival analyses of DSM20231 as well as an isogenic clpC allelic-replacement mutant, a sigB mutant, and a clpC sigB double mutant. As expected, the clpC mutant showed increased sensitivity to oxidative and heat stresses. Unanticipated, however, was the reduced expression of the tricarboxylic acid (TCA) cycle gene citB (encoding aconitase), resulting in the loss of aconitase activity and preventing the catabolization of acetate during the stationary phase. clpC inactivation abolished post-stationary-phase recovery but also resulted in significantly enhanced stationary-phase survival compared to that of the wild-type strain. These data demonstrate the critical role of the ClpC ATPase in regulating the TCA cycle and implicate ClpC as being important for recovery from the stationary phase and also for entering the death phase. Understanding the stationary- and post-stationary-phase recovery in S. aureus may have important clinical implications, as little is known about the mechanisms of long-term persistence of chronic S. aureus infections associated with formation of biofilms.
Effects of Calcium Deprivation and Orchidectomy on Bone Composition in the Rat

The effects of calcium deprivation and of orchidectomy, separately and combined, on body growth and bone composition have been examined in mature male rats. Calcium deprivation had no significant effect on the rate of body growth but femoral bone weight, bone ash weight and total calcium and phosphorus contents of the femora were reduced while the water content increased. However, there were no significant changes in the ratio of bone weight to body weight, in the amounts of calcium or phosphorus per unit weight of bone, or in the ratio of calcium to phosphorus in the bone. Orchidectomy reduced the rate of body growth, the mean weight of the femora and the ratio of bone weight to body weight. There was a 60% decrease in bone water and a 30--35% reduction in the calcium and phosphorus content of the femora but the amounts of ash, calcium and phosphorus per unit weight of bone fell by only 6--10%. The combination of orchidectomy and calcium deprivation had no greater effect on body weight, bone weight or bone composition than had orchidectomy alone. It is concluded that calcium deprivation and orchidectomy both cause osteoporosis in mature rats but the effects of orchidectomy are more severe than those of calcium deprivation and there appears to be some demineralization of the bone remaining after orchidectomy.
Simple, Rapid Latex Agglutination Test for Serotyping of Pneumococci (Pneumotest-Latex)

ABSTRACT The “gold standard” for epidemiological typing of Streptococcus pneumoniae (pneumococcus) is the capsular reaction test (Neufeld test) with antisera against the 90 pneumococcal polysaccharide capsules, i.e., serotyping. The method is labor intensive and requires a certain level of experience to be performed satisfactory, and thus it has been restricted for use in specialized reference or research laboratories. Surveillance of the serotype distribution of pneumococci that cause infections is important to secure an optimal composition of pneumococcal vaccines and to monitor antibiotic resistance in pneumococci. At Statens Serum Institut, a simple latex agglutination test for serotyping of pneumococci has been developed. The Pneumotest-Latex kit consists of 14 different pooled pneumococcus antisera (pools A to I and pools P to T) applied to latex particles. In a blind test of 352 isolates (with all 90 serotypes represented), 336 (95.5%) were typed or grouped correctly by the Pneumotest-Latex; in addition, 2 (7%) of 30 strains regarded as nontypeable or rough strains were serotyped, and the serotypes of these two isolates were confirmed by the capsular reaction test with type-specific antisera. The Pneumotest-Latex seems to be a sensitive method for serotyping or grouping of the majority of pneumococcal strains. By use of this ready-to-perform latex agglutination kit (Pneumotest-Latex), serotyping of pneumococci can gain more ground as a tool in prevention of pneumococcal diseases.
Privacy and eHealth-enabled smart meter informatics

The societal need for better public healthcare calls for granular, continuous, nationwide instrumentation and data fusion technologies. However, the current trend of centralised (database) health analytics gives rise to data privacy issues. This paper proposes sensor data mining algorithms that help infer health/well-being related lifestyle patterns and anomalous (or privacy-sensitive) events. Such algorithms enable a user-centric context awareness at the network edge, which can be used for decentralised eHealth decision making and privacy protection by design. The main hypothesis of this work involves the detection of atypical behaviours from a given stream of energy consumption data recorded at eight houses over a period of a year for cooking, microwave, and TV activities. Our initial exploratory results suggest that in the case of an unemployed single resident, the day-by-day variability of TV or microwave operation, in conjunction with the variability of the absence of other cooking activity, is more significant as compared with the variability of other combinations of activities. The proposed methodology brings together appliance monitoring, privacy, and anomaly detection within a healthcare context, which is readily scalable to include other health-related sensor streams.
News Consumption during the Italian Referendum: A Cross-Platform Analysis on Facebook and Twitter

The rising attention to the spreading of fake news and unsubstantiated rumors on online social media and the pivotal role played by confirmation bias led researchers to investigate different aspects of the phenomenon. Experimental evidence shows that confirmatory information gets accepted even if containing deliberately false claims, while dissenting information is mainly ignored or might even increase group polarization. It seems reasonable that, to address misinformation problem properly, we have to understand the main determinants behind content consumption and the emergence of narratives on online social media. In this paper we address such a challenge by focusing on the discussion around the Italian Constitutional Referendum by conducting a quantitative, cross-platform analysis on both Facebook public pages and Twitter accounts. We observe the spontaneous emergence of well-separated communities on both platforms. Such a segregation is completely spontaneous, since no contents categorization was performed a priori. By exploring the dynamics behind the discussion, we find that users tend to restrict their attention to a specific set of Facebook pages/Twitter accounts. Finally, taking advantage of automatic topic extraction and sentiment analysis techniques, we are able to identify the most controversial topics inside and across both platforms. Thus, we measure the distance between how a certain topic is presented in the posts/tweets and the related users' emotional response. Our results provide interesting insights for the understanding of the evolution of the core narratives behind different echo chambers and for the early detection of massive viral phenomena around false claims.
Perceptions of need and help received for substance dependence in a national probability survey.

OBJECTIVE Most individuals with alcohol or other substance use disorders do not seek help for these problems. This study examined the factors associated with perceptions of need for help and receipt of help among individuals with alcohol or other substance dependence disorders in the National Epidemiologic Survey on Alcohol and Related Conditions (NESARC). METHODS The 2001-2002 NESARC surveyed a representative sample of the noninstitutionalized population in the United States. Individuals with a past-year substance dependence diagnosis (N=1,602) were classified into one of three groups: received help in the past year (14.7%), perceived a need for help but did not receive it (8.5%), or perceived no need and received no help (76.8%). Multinomial logistic regression with population weights was used to examine the influence of predisposing, enabling, and need-related factors on help seeking in the past year. RESULTS Factors that increased the receipt of help included older age, drug dependence (versus alcohol dependence only), longer time since the onset of dependence, co-occurring mood disorder, and more problems associated with substance use. Nonwhites were about twice as likely as whites (odds ratio=2.2) to perceive a need for help but not receive it. Similarly, more problems associated with substance use increased the odds of both receiving help and perceiving a need for help but not receiving it. None of the enabling characteristics were associated with help seeking or perceived need, after analyses controlled for predisposing and need-related factors. CONCLUSIONS Increasing the recognition of problems associated with substance dependence, particularly alcohol, may facilitate help seeking, although barriers persist in regard to age and race-ethnicity.
Enhanced eIF1 binding to the 40S ribosome impedes conformational rearrangements of the preinitiation complex and elevates initiation accuracy

Eukaryotic initiation factor one (eIF1) is thought to promote an open conformation of the small ribosomal subunit so that it can identify correct initiation codons. This article poses a genetic strategy to identify mutations in eIF1 that suppress inappropriate initiation of UUG codons. Several eIF1 suppressor mutations increase its affinity for the 40S subunit, resulting in increased initiation accuracy in the cell.
Escalas para avaliacao de fobias

Sao descritos os principais instrumentos para avaliacao de fobias: os inventarios de medo, as escalas gerais e para agorafobia, fobia social e fobias especificas. Enfase e dada na necessidade da avaliacao multidimensional, tanto dos aspectos cognitivos quanto fisiologicos, comportamentais e de incapacitacao
Human C4-binding protein. II. Role in proteolysis of C4b by C3b- inactivator

We recently described the isolation from human serum of a high molecular weight protein with specific binding affinity for fluid-phase activated C4. We show here that the C4-binding protein (C4-Bp) functions as an essential cofactor in the proteolysis of C4b in the presence of C3b-inactivator (C3bINA). C4-bp, together with C3bINA, cleave the alpha'-chain of C4b into three fragments called alpha2, alpha3, and alpha4, with mol wt of 47,000, 25,000, and 17,000 daltons, respectively. The alpha2 fragment was dissociated from C4b without reduction, whereas the alpha3 and alpha4 fragments were disulfide bonded the other chains of C4b. The reaction did not occur when either C4-bp or C3bINA were omitted, nor in the presence of either protein in combination with beta1H. Native C4 was not affected by C3bINA aand C4- bp. C4b was not cleaved when incubated in serum of a patient with genetic deficiency of C3bINA. However, when purified C3bINA was added, the alpha'-chain of C4b was cleaved and fragments with the same molecular weight as alpha2, alpha3, and alpha4 were generated.
The Effect of a Stroop-like Task on Postural Control in Dyslexic Children

The influence of a secondary task on concurrent postural control was explored in twenty-one dyslexic children (mean age: 10.4±0.3 years). Data were compared with twenty age-matched non-dyslexic children. As a secondary task, a modified Stroop test was used, in which words were replaced with pictures of fruits. The postural control of children was recorded in standard Romberg condition as the children were asked to name the colour of fruits appearing consecutively on a computer screen. Two conditions were tested: a congruent condition, in which the fruit was drawn in its natural ripe colour, and a non-congruent colour condition (NC), in which the fruit was drawn in three abnormal colours. A fixating condition was used as baseline. We analyzed the surface, length and mean speed of the center of pressure and measured the number of correct responses in the Stroop-like tasks. Dyslexic children were seen to be significantly more unstable than non-dyslexic ones. For both groups of children, the secondary task significantly increased postural instability in comparison with the fixating condition. The number of correct responses in the modified Stroop task was significantly higher in the non-dyslexic than in the dyslexic group. The postural instability observed in dyslexic children is in line with the cerebellar hypothesis and supports the idea of a deficit in automatic performance in such children. Furthermore, in accordance with cross domain competition model, our findings show that attentional resources are used to a greater extent by the secondary task than in controlling body stability.
They have gone, and now what? Understanding re-enrolment patterns in the Catalan public higher education system

ABSTRACT Studies of student re-enrolment patterns in higher education constitute, along with traditional studies of persistence and dropout, a key element for improving the quality of higher education institutions. However, these studies tend to be limited as they are centred on a single institution, due to the lack of national-scale data sets for monitoring students between different institutions. Using a longitudinal population-based data set provided by the Catalan University Assurance Agency (AQU), which includes information records on 21,473 undergraduate students, this paper aims to develop and test an exploratory model of student re-enrolment, specifically in the Catalan public university system. We are not only interested in student re-enrolment, but also in whether they do so during the first year after dropout or in the same area of knowledge. Results from logistic regression analysis revealed that although most students return to the university system in the first year after dropout, many of these change to a different area of knowledge, which is clear evidence of dysfunctional and inefficient guidance systems and university entrance. Findings provide a more accurate and complete picture of student re-enrolment behaviour and suggest the need to develop targeted policies to improve the efficiency and effectiveness of our university systems.
Evaluating Tree Detection and Segmentation Routines on Very High Resolution UAV LiDAR Data

Light detection and Ranging (LiDAR) is becoming an increasingly used tool to support decision-making processes within forest operations. Area-based methods that derive information on the condition of a forest based on the distribution of points within the canopy have been proven to produce reliable and consistent results. Individual tree-based methods, however, are not yet used operationally in the industry. This is due to problems in detecting and delineating individual trees under varying forest conditions resulting in an underestimation of the stem count and biases toward larger trees. The aim of this paper is to use high-resolution LiDAR data captured from a small multirotor unmanned aerial vehicle platform to determine the influence of the detection algorithm and point density on the accuracy of tree detection and delineation. The study was conducted in a four-year-old Eucalyptus globulus stand representing an important stage of growth for forest management decision-making process. Five different tree detection routines were implemented, which delineate trees directly from the point cloud, voxel space, and the canopy height model (CHM). The results suggest that both algorithm and point density are important considerations in the accuracy of the detection and delineation of individual trees. The best performing method that utilized both the CHM and the original point cloud was able to correctly detect 98% of the trees in the study area. Increases in point density (from 5 to 50 points/m2) lead to significant improvements (of up to 8%) in the rate of omission for algorithms that made use of the high density of the data.
Working with data : Both an opportunity and challenge for school leaders

Přispěvek sleduje problematiku prace s daty ve skolach. Jsou představeny různe ucely teto prace a pozornost je věnovana i souvisejici připravenosti pedagogů. V zavěru přispěvku jsou shrnuty vybrane výsledky pilotniho setřeni zaměřeneho na zjistěni, jak a s kterými daty se ve skolach pracuje, jak respondenti hodnoti svou vlastni připravenost pro praci s daty a jake vzdělavaci nebo i jine potřeby maji v tomto směru. Setřeni realizovane v Ceske republice i v zahranici se věnuje i identifikaci postojů vedoucich pracovniků skol k praci s daty.