Miracle-dz/UniFAR-FTUs huggingface dataset:
Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype

A ‘Down Syndrome critical region’ (DSCR) sufficient to induce the most constant phenotypes of Down syndrome (DS) had been identified by studying partial (segmental) trisomy 21 (PT21) as an interval of 0.6–8.3 Mb within human chromosome 21 (Hsa21), although its existence was later questioned. We propose an innovative, systematic reanalysis of all described PT21 cases (from 1973 to 2015). In particular, we built an integrated, comparative map from 125 cases with or without DS fulfilling stringent cytogenetic and clinical criteria. The map allowed to define or exclude as candidates for DS fine Hsa21 sequence intervals, also integrating duplication copy number variants (CNVs) data. A highly restricted DSCR (HR-DSCR) of only 34 kb on distal 21q22.13 has been identified as the minimal region whose duplication is shared by all DS subjects and is absent in all non-DS subjects. Also being spared by any duplication CNV in healthy subjects, HR-DSCR is proposed as a candidate for the typical DS features, the intellectual disability and some facial phenotypes. HR-DSCR contains no known gene and has relevant homology only to the chimpanzee genome. Searching for HR-DSCR functional loci might become a priority for understanding the fundamental genotype-phenotype relationships in DS.
Reaching Consensus with Imprecise Probabilities Over a Network

Information consensus in sensor networks has received much attention due to its numerous applications in distributed decision making. This paper discusses the problem of a distributed group of agents coming to agreement on a probability vector over a network, such as would be required in a decentralized estimation of state transition probabilities or agreement on a probabilistic search map. Unique from other recent consensus literature, however, the agents in this problem must reach agreement while accounting for the uncertainties in their respective probabilities, which are formulated according to generally non-Gaussian distributions. The rst part of this paper considers the problem in which the agents seek agreement to the centralized Bayesian estimate of the probabilities, which is accomplished using consensus on hyperparameters. The second part shows that the new hyperparameter consensus methodology can ensure convergence to the centralized estimate even while measurements of a static process are occurring concurrently with the consensus algorithm. A machine repair example is used to illustrate the advantages of hyperparameter consensus over conventional consensus approaches.
Query performance prediction for microblog search: a preliminary study

Microblogging has recently become an integral part of the daily life of millions of people around the world. With a continuous flood of posts, microblogging services (e.g., Twitter) have to effectively handle millions of user queries that aim to search and follow recent developments of news or events. While predicting the quality of retrieved documents against search queries was extensively studied in domains such as the Web and news, the different nature of data and search task in microblogs triggers the need for re-visiting the problem in that context. In this work, we re-examined several state-of-the-art query performance predictors in the domain of microblog ad-hoc search using the two most-commonly used tweets collections with three different retrieval models that are used in microblog search. Our experiments showed that a temporal predictor was generally the best to fit the prediction task in the context of microblog search, indicating the importance of the temporal aspect in this task. The results also highlighted the need to either re-design some of the existing predictors or propose new ones to function effectively with different retrieval models that are used in our tested domain. Finally, our experiments on combining multiple predictors resulted in achieving considerable improvements in prediction quality over individual predictors, which confirmed the results reported in the literature but in different domains.
Role of variation and jump component in measure, modelling and forecasting S&P CNX NIFTY index volatility

Measuring and forecasting volatility plays an indispensable role in the theoretical developments and in various applications in finance. Volatility is latent and cannot be observed; however, recent studies have used high frequency data to construct ex post measures of daily volatility. In this study, we predict the volatility of the S&P CNX NIFTY market index using different heterogeneous autoregressive (HAR) specifications based on realised volatility, realised bipower variation, jump and continuous component and their logarithms. In doing so, we also examined the role of the jump and continuous component in enhancing the predictability of the HAR model. We show that the jump and continuous component do not contain any additional information. The results also provide the empirical evidence that, inclusion of realised bipower variance in the HAR models helps in predicting future volatility. We also propose a feedforward neural network-based averaging approach to forecast realised volatility. The result shows that neural network-based averaging approach provides modest improvement in the accuracy compared to the HAR models.
Fatty liver predicts the risk for cardiovascular events in middle-aged population: a population-based cohort study

Objective We investigated if the differences in liver fat content would predict the development of non-fatal and fatal atherosclerotic endpoints (coronary heart disease and stroke). Design, setting and participants Our study group is a population-based, randomly recruited cohort (Oulu Project Elucidating Risk of Atherosclerosis, OPERA), initiated in 1991. The cohort consisted of 988 middle-aged Finnish participants. Intervention Total mortality and hospital events were followed up to 2009 based on the registry of the National Institute for Health and Welfare and the National death registry. Main outcome measure The severity of hepatic steatosis was measured by ultrasound and divided into three groups (0–2). Cox regression analysis was used in the statistical analysis. Results In the follow-up of years 1991–2009, 13.5% of the participants with non-fatty liver, 24.2% of participants having moderate liver fat content and 29.2% of the participants having severe fatty liver experienced a cardiovascular event during the follow-up time (p<0.001). Severe liver fat content predicted the risk for future risk of cardiovascular event even when adjusted for age, gender and study group (HR 1.92, CI 1.32 to 2.80, p<0.01). When further adjustments for smoking, alcohol consumption, low-density lipoprotein-cholesterol, body mass index and systolic blood pressure were conducted, the risk still remained statistically significant (HR 1.74, CI 1.16 to 2.63, p<0.01). Statistical significance disappeared with further adjustment for QUICKI. Conclusions Liver fat content increases the risk of future cardiovascular disease event in long-term follow-up but it is seems to be dependent on insulin sensitivity.
Mechanism of Inducible Nitric-oxide Synthase Dimerization Inhibition by Novel Pyrimidine Imidazoles*

Background: Overproduction of nitric oxide by dimeric inducible nitric-oxide synthase (iNOS) is physiologically harmful. Results: Pyrimidine imidazole derivative (PID) binds to both the iNOS dimer and monomer causing irreversible monomerization and inhibition of dimerization, respectively. Conclusion: PID can physiologically inhibit iNOS both during and after its assembly into active enzyme. Significance: Our study reveals PID's dual ability to inhibit iNOS as well as their kinetic mechanisms. Overproduction of nitric oxide (NO) by inducible nitric-oxide synthase (iNOS) has been etiologically linked to several inflammatory, immunological, and neurodegenerative diseases. As dimerization of NOS is required for its activity, several dimerization inhibitors, including pyrimidine imidazoles, are being evaluated for therapeutic inhibition of iNOS. However, the precise mechanism of their action is still unclear. Here, we examined the mechanism of iNOS inhibition by a pyrimidine imidazole core compound and its derivative (PID), having low cellular toxicity and high affinity for iNOS, using rapid stopped-flow kinetic, gel filtration, and spectrophotometric analysis. PID bound to iNOS heme to generate an irreversible PID-iNOS monomer complex that could not be converted to active dimers by tetrahydrobiopterin (H4B) and l-arginine (Arg). We utilized the iNOS oxygenase domain (iNOSoxy) and two monomeric mutants whose dimerization could be induced (K82AiNOSoxy) or not induced (D92AiNOSoxy) with H4B to elucidate the kinetics of PID binding to the iNOS monomer and dimer. We observed that the apparent PID affinity for the monomer was 11 times higher than the dimer. PID binding rate was also sensitive to H4B and Arg site occupancy. PID could also interact with nascent iNOS monomers in iNOS-synthesizing RAW cells, to prevent their post-translational dimerization, and it also caused irreversible monomerization of active iNOS dimers thereby accomplishing complete physiological inhibition of iNOS. Thus, our study establishes PID as a versatile iNOS inhibitor and therefore a potential in vivo tool for examining the causal role of iNOS in diseases associated with its overexpression as well as therapeutic control of such diseases.
An Item Factor Analysis of the Revised Barrett-Lennard Relationship Inventory

Abstract The revised version of the Barrett-Lennard Relationship Inventory with an added advice-giving scale was given to 240 female and 95 male students, who completed it in terms of their current closest personal relationship. The correlations between the 80 items were factor-analysed using a principal-factor solution to determine whether the items represented the five postulated factors of advice-giving, empathy, congruence, and level of and unconditionally of regard. Eighteen factors were extracted and rotated by the Varimax method. The first five factors extracted accounted for 36.3% of the variance and reflected the five postulated factors, thus partially supporting the factorial validity of this questionnaire.
Positional Order and Group Size Effects in Resource Dilemmas with Uncertain Resources

Abstract We report the results of three experiments in which groups of players share a common resource pool whose size is a random variable with a commonly known distribution. We study a new information structure - called the positional order protocol - under which requests are made in an exogenously determined and commonly known order without disclosing the requests of previous players in the sequence. Mean individual requests under this protocol of play are compared with data gathered under the more familiar simultaneous protocol (simultaneously made requests) and sequential protocol (sequentially made requests with full disclosure of previous requests). Previously reported effects of the resource uncertainty on individual requests obtained under the simultaneous and sequential protocols are generalized across different group sizes. In contrast to the game-theoretical prediction, which does not distinguish between the simultaneous and positional order protocols, mean individual requests and position in the sequence are highly and significantly correlated. We conclude that position effects can be induced by temporal priority, even in the absence of differential information.
Dog Experts' Brains Distinguish Socially Relevant Body Postures Similarly in Dogs and Humans

We read conspecifics' social cues effortlessly, but little is known about our abilities to understand social gestures of other species. To investigate the neural underpinnings of such skills, we used functional magnetic resonance imaging to study the brain activity of experts and non-experts of dog behavior while they observed humans or dogs either interacting with, or facing away from a conspecific. The posterior superior temporal sulcus (pSTS) of both subject groups dissociated humans facing toward each other from humans facing away, and in dog experts, a distinction also occurred for dogs facing toward vs. away in a bilateral area extending from the pSTS to the inferior temporo-occipital cortex: the dissociation of dog behavior was significantly stronger in expert than control group. Furthermore, the control group had stronger pSTS responses to humans than dogs facing toward a conspecific, whereas in dog experts, the responses were of similar magnitude. These findings suggest that dog experts' brains distinguish socially relevant body postures similarly in dogs and humans.
Mental Health Factors and Teaching Behaviors among Low-Income Hispanic Mothers

The relationships among anxiety, depression, parenting stress, social support, and teaching behaviors were studied in a group of 101 low-income Dominican and Puerto Rican mothers with children in Head Start The two groups of mothers showed high levels of depression, anxiety, and parenting stress but did not differ significantly from each other. Puerto Rican mothers reported more social support than did Dominican mothers. Surprisingly, neither anxiety nor depression was significantly associated with social support Both groups used more directive, modeling, and visual cues than other behaviors in their teaching. Dominican mothers used more modeling than Puerto Rican mothers, who used more praise and inquiry. Anxious and depressed mothers also used more negative feedback, directives, and modeling. Those with high parenting stress used less inquiry and praise and more modeling. These findings inform clinical and educational interventions with parents and children.
Synthesis, Structural, and Magnetic Properties of Nanocrystalline/Nanosized Manganese-Nickel Ferrite– ${\rm Mn}_{0.5}{\rm Ni}_{0.5}{\rm Fe}_{2}{\rm O}_{4}$

The nanocrystalline/nanosized mixed manganese-nickel spinel ferrite Mn0.5Ni0. 5Fe2O4 was successfully synthesized by the classical ceramic method followed by mechanical milling. The refinement of the crystallite size is obtained by increasing the milling time up to 120 min. The particles size distribution performed on the milled powder showed a fine ferrite powder. The Néel temperature of Mn0.5Ni0. 5Fe2O4 decreases by increasing the milling time as a result of the structural disorder and it is larger when compared with the manganese ferrite one and lower when compared with the nickel ferrite one. The saturation magnetization of the spinel structure was found to be 2.42 μB and it is close to the theoretical one 2.5 μB. The saturation magnetization and spontaneous magnetization decrease by increasing milling time. The spontaneous magnetization is reduced more drastically when compared with the saturation magnetization. One of the major causes is assumed to be the spin canted effect induced at the particles surface by milling process.
Teenagers’ web questions compared with a sexuality curriculum: an exploration

Background: Teenagers need information about their changing bodies. Many young people do not receive adequate or accurate puberty/sexuality education from their parents or school, so many teenagers are going online to have their sexuality questions answered. Purpose: This research examines teenagers’ web questions on sexuality, and an example of the puberty and sexuality education content that some may learn in school. It looks for evidence of heteronormative conceptualisations of gender and sexuality, using a theoretical framework based on the Four Discourses of Sexuality Education. Sample: This includes the web questions (n = 200) of an evenly gendered sample of 13–15‐year-old students (n = 180) from four English-speaking nations, namely UK, USA, Canada and Australia, selected from a reputable puberty/sexuality education site, and, for comparison, an example of an age-representative public school Health and Physical Education (HPE) puberty/sexuality education curriculum. Method: A gendered and narrative-thematic Content Analysis was undertaken, using the Four Discourses theoretical framework, on the students’ sexuality web questions, and also on the school HPE curriculum. Results: The discourse of Victimisation was evident in nearly half of all students’ web questions, and over a third of the HPE curriculum. The discourse of Individual Morality was present in a quarter of both students’ questions and the curriculum, while the discourse of Desire was evidenced in a fifth of students’ questions and almost a third of curriculum content. Somewhat surprisingly, the discourse of Violence was present in 9% of exclusively female students’ web questions, and in 12% of the curriculum. Conclusion: It is recommended that the sampled HPE curriculum, and similar curricula in these sampled students’ countries, need explicitly to address gender differences in students’ metacognition and conceptualisations of puberty and sexuality. This may enable students to embrace their entitlement to sexual subjectivity, in education and across the lifespan, thus helping to ensure students’ healthy, positive and purposeful life outcomes.
Prospective comparison of direct immunofluorescence and conventional staining methods for detection of Giardia and Cryptosporidium spp. in human fecal specimens

In a prospective comparative study, 2,696 consecutive fresh stool specimens over the course of 1 year were examined for Giardia lamblia and Cryptosporidium parvum by using a direct immunofluorescent-monoclonal antibody stain (for unspun specimens) and conventional staining methods (chlorazol black E for Giardia cysts and modified Kinyoun acid-fast for Cryptosporidium oocysts). The direct immunofluorescent-monoclonal antibody method resulted in a significantly increased detection rate for both giardia (118 versus 79 specimens, 49.4%; P = 0.006) and cryptosporidia (39 versus 23 specimens, 69.6%; P = 0.055).
Researching reflective practice: an example from post-qualifying social work education⊃[1]⊃

Abstract Recent concern over the standard of social work practice, as evidenced by inquiries into child abuse cases, have led to something of a crisis in trust in the profession. As a result, there is now an emphasis on increasing practitioners' competency to practice in complex situations. Critical reflection is seen as key to achieving this increase in competence, and is stressed in both professional guidance and educational policy. National standards for continuing professional development encapsulated in post-qualifying social work awards formalise the processes of reflection on practice and learning through reflection. While most literature concentrates on reflection within the context of educational courses, the research presented in this article describes the extent to which practitioners use reflective and critical thinking skills in everyday practice. Analysis of qualitative interviews reveal that practitioners value the opportunity that post-qualifying awards provide to step back and reflect in-depth on a piece of practice, but that there is neither the time or often the support, to transfer these skills to everyday practice. Reflection emerges as an important tool for learning, but given the complex context of social work practice, it is important that it continues outside of formal education programmes. Barriers and enablers of this process are discussed.
Summation Priming and Coarse Semantic Coding in the Right Hemisphere

There are now numerous observations of subtle right hemisphere (RH) contributions to language comprehension. It has been suggested that these contributions reflect coarse semantic coding in the RH. That is, the RH weakly activates large semantic fieldsincluding concepts distantly related to the input wordwhereas the left hemisphere (LH) strongly activates small semantic fieldslimited to concepts closely related to the input (Beeman, 1993a,b). This makes the RH less effective at interpreting single words, but more sensitive to semantic overlap of multiple words. To test this theory, subjects read target words preceded by either Summation primes (three words each weakly related to the target) or Unrelated primes (three unrelated words), and target exposure duration was manipulated so that subjects correctly named about half the target words in each hemifield. In Experiment 1, subjects benefited more from Summation primes when naming target words presented to the left visual field-RH (Ivf-RH) than when naming target words presented to the right visual field-LH (rvf-LH), suggesting a RH advantage in coarse semantic coding. In Experiment 2, with a low proportion of related prime-target trials, subjects benefited more from Direct primes (one strong associate flanked by two unrelated words) than from Summation primes for rvf-LH target words, indicating that the LH activates closely related information much more strongly than distantly related information. Subjects benefited equally from both prime types for Ivf-RH target words, indicating that the RH activates closely related information only slightly more strongly, at best, than distantly related information. This suggests that the RH processes words with relatively coarser coding than the LH, a conclusion consistent with a recent suggestion that the RH coarsely codes visual input (Kosslyn, Chabris, Mar-solek, & Koenig, 1992).
On-line robot adaptation to environmental change

Robots performing tasks constantly encounter changing environmental conditions. These changes in the environment vary from the dramatic, such as rearrangement of furniture, to the subtle, such as a burnt out light bulb or a different carpeting. We do not recognize many of these changes, especially subtle changes, but robots do. These changes often lead to the failure of robots. In this thesis, we develop an algorithm for detecting these changes. Traditional sensor models do not capture all of the dependencies in the sensor data and are not capable of detecting all types of signal changes while maintaining a strong probabilistic foundation. This thesis corrects these shortcomings. We show how detecting the current conditions in which the robot is operating can lead to increased performance and lower failure rates. The methods in this thesis are tested on real tasks performed by a real robot, namely a Sony AIBO robot.
THE CONFIDENCE TO TEACH ENGLISH LANGUAGE LEARNERS: EXPLORING COURSEWORK'S ROLE IN DEVELOPING PRESERVICE TEACHERS' EFFICACY

As our schools become increasingly diverse and the effects of immigration can be felt across the nation, some states have mandated that preservice teachers take endorsement courses that focus on teaching English Language Learners (ELLs) with the purpose of ensuring that teachers are able to meet ELLs' social and academic needs. A significant factor in improving instructional practices for ELLs is preservice teachers' confidence in their ability to teach ELLs successfully. What remains to be seen, however, is how best to organize and implement endorsement courses so that they have a positive effect on teachers' confidence to use their new knowledge to teach in effective ways. In this study, we discuss how endorsement curricula can build teachers' self-efficacy for teaching ELLs by not just covering the required content, but by being conscientious in how the curricula are organized and delivered. By providing teachers with the foundational knowledge through the use of meaningful and engaging pedagogical practices, preservice teachers' efficacy and beliefs about instructing ELLs will increase. This, in turn, will provide them with the confidence to teach those who may be very different culturally and linguistically from themselves.