Miracle-dz/UniFAR-FTUs huggingface dataset:
Contactin 4 as an autism susceptibility locus

Structural and sequence variation have been described in several members of the contactin (CNTN) and contactin‐associated protein (CNTNAP) gene families in association with neurodevelopmental disorders, including autism. Using array comparative genome hybridization (CGH), we identified a maternally inherited ∼535 kb deletion at 3p26.3 encompassing the 5′ end of the contactin 4 gene (CNTN4) in a patient with autism. Based on this finding and previous reports implicating genomic rearrangements of CNTN4 in autism spectrum disorders (ASDs) and 3p− microdeletion syndrome, we undertook sequencing of the coding regions of the gene in a local ASD cohort in comparison with a set of controls. Unique missense variants were identified in 4 of 75 unrelated individuals with ASD, as well as in 1 of 107 controls. All of the amino acid substitutions were nonsynonomous, occurred at evolutionarily conserved positions, and were, thus, felt likely to be deleterious. However, these data did not reach statistical significance, nor did the variants segregate with disease within all of the ASD families. Finally, there was no detectable difference in binding of two of the variants to the interacting protein PTPRG in vitro. Thus, additional larger studies will be necessary to determine whether CNTN4 functions as an autism susceptibility locus in combination with other genetic and/or environmental factors.Autism Res 2011,4:189–199. © 2011 International Society for Autism Research, Wiley Periodicals, Inc.
The electrical control of pressure sensations: the relationship between stimulation signals and subjective intensities and areas

In order to understand the method of controlling the intensities and areas of pressure sensations evoked by the electrical stimulation of a sensory nerve, the relationship was studied between the stimulation signal (which is input intraneurally into a single mechanoreceptor unit) and the subjective intensities and areas of the evoked sensations. The subjective magnitude of the evoked sensation was found to intensify with an increase in the stimulus frequency.
The Korean Language in America: The Role of Cultural Identity in Heritage Language Learning

The paper examines the role of cultural identity and heritage language maintenance among the lives of 40 second-generation Korean-American university students in the United States. The study focuses on three questions: (1) what is the level of heritage language proficiency and language use among second generation Korean-American youths? ; (2) which culture(s) do these youths identify themselves with, Korean or American, and to what extent? ; and (3) is there a relationship between cultural identity and heritage language proficiency? Qualitative and quantitative analyses of the questionnaire data showed that most second-generation Korean-Americans achieve some level of Korean proficiency, but they overwhelmingly agree that it is not enough. They acknowledge the importance of knowing their heritage language, but feel that the existing language courses in the community-based language schools are not meeting their needs. The informants stated that the absence of societal recognition of the importance in maintaining their heritage language was the most significant factor in their lack of motivation to maintain their heritage language. However, they appear to have formed a unique bicultural identity composed of characteristics from both Korean and American cultures. A regression analysis showed that heritage language proficiency was related to strength of bicultural identification.
Family communication about positive BRCA1 and BRCA2 genetic test results

Purpose: The identification of a BRCA1 or BRCA2 genetic mutation can provide important health information to individuals who receive this result, but it can also provide crucial cancer risk information to family members. Most of the research on communication of genetic test results has focused on first degree relatives. The purpose of this retrospective study was to examine the process of communicating a positive BRCA1 or BRCA2 genetic test result to male and female first, second, and third degree relatives.Methods: Participants were 38 female mutation carriers who responded to a written survey assessing the number and relationship of relatives informed, methods used to inform relatives, topics discussed, and motivations and barriers for communication.Results: Overall, 59% (470/803) of first, second, and third degree relatives were informed. The proportion of informed parents, siblings, and offspring was nearly twice that of more distant relatives including nieces, nephews, aunts, uncles, grandchildren, and cousins (88% versus 45%; P = 0.02). The method of communication differed by the gender of the relative, as did some of the topics discussed. The most important reasons for discussing the genetic test results were (1) to inform the relatives of their risk, (2) to suggest that they be tested, and (3) to fulfill a perceived duty to inform. The major barrier to communication was little contact and/or emotionally distant relationships.Conclusion: Female mutation carriers act on a perceived duty to inform close relatives of their positive test result; however, there is a need for genetic counseling strategies that address communication with more distant relatives.
Recognition of indigenous water values in Australia's Northern Territory: current progress and ongoing challenges for social justice in water planning

This paper details indigenous Australian water values and interests, highlights progress towards improved distributive outcomes from water planning and analyses the remaining challenges in meeting indigenous aspirations for cultural recognition. It describes the significance of water to indigenous people living in the Roper River area of Australia's Northern Territory, reports on innovations in water allocation planning processes aimed at accommodating that significance, and analyses the implications of this case study for water planning generally. We describe rich cultural and historical connections with water places, protocols governing human conduct towards water, custodial assertions regarding the need for “water for the country”, distinctive values relating to riparian vegetation, and claims of ownership and economic rights in contemporary water allocations. Current water planning objectives such as sustainable development, protection for groundwater-dependent ecosystems, and protection of indigenous values accord with contemporary indigenous perspectives in the Roper, and in a national first, the local water plan specifically proposes reserving a significant water allocation for commercial use by indigenous people. Yet that allocation is seen as unjust from a local perspective, and further analysis demonstrates a range of other limitations: the scale and boundedness of the demarcated plan area, the neglect of riparian vegetation management, insufficient resourcing of local indigenous capacity, mismatches in planning and local governance structures, and the broader question of whether a rationalist planning process can simultaneously advance indigenous claims for recognition, equity in distributions and parity in participation.
Daily injections of fluoxetine induce dose-dependent desensitization of hypothalamic 5-HT1A receptors: reductions in neuroendocrine responses to 8-OH-DPAT and in levels of Gz and Gi proteins.

The present studies examined the dose-response relationship of fluoxetine-induced desensitization of hypothalamic postsynaptic 5-HT1A receptors, as measured from the reduced neuroendocrine responses to a 5-HT1A agonist. Because hypothalamic Gz proteins mediate the ACTH and oxytocin responses to 5-HT1A receptor activation, we also determined the effect of fluoxetine on the levels of Gz proteins in the hypothalamus. Rats were injected daily for 14 days with saline or with fluoxetine doses of 0.3, 1, 3, 5, 7. 5, or 10 mg/kg/day. Fluoxetine produced a dose-dependent reduction in the oxytocin, ACTH, and corticosterone responses to the 5-HT1A agonist 8-hydroxy-2-(dipropylamino)tetralin (8-OH-DPAT, 50 micrograms/kg, s.c.). The lowest fluoxetine dose that significantly, although incompletely, reduced the neuroendocrine responses to 8-OH-DPAT was 5 mg/kg/day. The 10 mg/kg/day dose of fluoxetine maximally inhibited all neuroendocrine responses to 8-OH-DPAT. Hypothalamic levels of Gz protein were reduced by both the 7.5 and 10 mg/kg/day doses of fluoxetine, whereas Gi1 protein levels were reduced only after the highest dose (10 mg/kg/day) of fluoxetine. Gi2, Gi3, and Go levels were not reduced by any fluoxetine dose. Cytosolic levels of Gi1 and Gz proteins were unaltered, indicating that reductions in Gz and Gi1 proteins are not caused by a redistribution of the proteins from the membrane into the cytosol. The results from the present study indicate that fluoxetine-induced desensitization of hypothalamic postsynaptic 5-HT1A receptor systems is dose-dependent and may be caused in part by reductions in the hypothalamic levels of Gz proteins.
Designing Energy-Efficient Arithmetic Operators Using Inexact Computing

It is widely acknowledged that the exponentially improving benefits of sustained technology scaling prophesied by the Moore’s Law would end within the next decade or so, attributed primarily to an understanding that switching devices can no longer function deterministically as feature sizes are scaled down to the molecular levels. The benefits of Moore’s Law could, however, continue provided systems with probabilistic or “error-prone” elements could still process information usefully. We believe that this is indeed possible in contexts where the “quality” of the results of the computation is perceptually determined by our senses—audio and video information being significant examples. To demonstrate this principle, we will show how such “inexact” computing based devices, circuits and computing architectures can be used effectively to realize many ubiquitous energy-constrained error-resilient applications. Further, we show that significant energy, performance and area gains can be achieved, while trading a perceptually tolerable level of error–that will be ultimately determined based on neurobiological models—applied in the context of video and audio data in digital signal processing. This design philosophy of inexact computing is of particular interest in the domain of embedded and (portable) multimedia applications and in application domains of budding interest such as recognition and data mining, all of which can tolerate inaccuracies to varying extents or can synthesize accurate (or sufficient) information even from inaccurate computations!
Young Muslim Immigrants in Norway: An Epidemiological Study of Their Psychosocial Adaptation and Internalizing Problems

The first aim of the present study was to examine internalizing problems and their psychosocial correlates among young Muslim immigrants in Norway as compared to other immigrant youth and host peers. The second aim was to examine adaptation differences among Muslim youth based on national origin and gender. Questionnaire data were collected during school classes from 6306 10th grade students in junior high schools in Oslo. Of the 1666 immigrants in the sample, 1060 (63.3%) originated in countries with majority Muslim population. Internalizing problems were measured in terms of depression and anxiety symptoms. Psychosocial adaptation included measures of general and acculturation-specific risks and resources. In general, Muslims youth appeared well-adapted. However, there were between group differences based on national origin and gender. Also, self-efficacy was identified as an important moderator between acculturation-specific risks and resources and mental health among boys.
Primary and Posttraumatic Arthritis of the Elbow

Whether degenerative joint disease of the elbow may be the result of primary or posttraumatic etiologies, arthritis of the elbow commonly leads to pain, loss of motion, and functional disability. A detailed history and focused physical examination, in combination with imaging modalities, can help localize the origin of symptoms and help direct treatment. Although nonoperative treatment is the initial therapy for arthritis of the elbow, surgical interventions may provide substantial relief to the appropriately selected patient.
Using Machine-Learning Methods for Musical Style Modeling

The ability to construct a musical theory from examples presents a great intellectual challenge that, if successfully met, could foster a range of new creative applications. Inspired by this challenge, we sought to apply machine-learning methods to the problem of musical style modeling. Our work so far has produced examples of musical generation and applications to a computer-aided composition system. Machine learning consists of deriving a mathematical model, such as a set of stochastic rules, from a set of musical examples. The act of musical composition involves a highly structured mental process. Although it is complex and difficult to formalize, it is clearly far from being a random activity. Our research seeks to capture some of the regularity apparent in the composition process by using statistical and information theoretic tools to analyze musical pieces. The resulting models can be used for inference and prediction and, to a certain extent, to generate new works that imitate the style of the great masters.
Circular Targets for 3D Alignment of Video and Lidar Sensors

Abstract This article presents a novel approach for solving the problem of 3D alignment between video and lidar sensors. The proposed method concerns intelligent vehicle applications, where the relative distance between sensor frames can be significant. Circular calibration targets are used in order to make full use of the perception properties of both lidar and video cameras, which greatly simplifies the calibration task. The method determines the relative pose in rotation and translation of the sensors, using sets of corresponding circular features acquired for several configurations of the targets. A performance analysis in simulation and an error propagation analysis are carried out. The calibration procedure is tested on different configurations, and the calibration accuracy and estimation of confidence intervals are evaluated on real data.
Rescue of hereditary form of dilated cardiomyopathy by rAAV-mediated somatic gene therapy: Amelioration of morphological findings, sarcolemmal permeability, cardiac performances, and the prognosis of TO-2 hamsters

The hereditary form comprises ≈1/5 of patients with dilated cardiomyopathy (DCM) and is a major cause of advanced heart failure. Medical and socioeconomic settings require novel treatments other than cardiac transplantation. TO-2 strain hamsters with congenital DCM show similar clinical and genetic backgrounds to human cases that have defects in the δ-sarcoglycan (δ-SG) gene. To examine the long-term in vivo supplement of normal δ-SG gene driven by cytomegalovirus promoter, we analyzed the pathophysiologic effects of the transgene expression in TO-2 hearts by using recombinant adeno-associated virus vector. The transgene preserved sarcolemmal permeability detected in situ by mutual exclusivity between cardiomyocytes taking up intravenously administered Evans blue dye and expressing the δ-SG transgene throughout life. The persistent amelioration of sarcolemmal integrity improved wall thickness and the calcification score postmortem. Furthermore, in vivo myocardial contractility and hemodynamics, measured by echocardiography and cardiac catheterization, respectively, were normalized, especially in the diastolic performance. Most importantly, the survival period of the TO-2 hamsters was prolonged after the δ-SG gene transduction, and the animals remained active, exceeding the life expectancy of animals without transduction of the responsible gene. These results provide the first evidence that somatic gene therapy is promising for human DCM treatment, if the rAAV vector can be justified for clinical use.
Time for action: Science education for an alternative future

Following a brief historical survey of the popular 'slogans' that have influenced science education during the past quarter century and a review of current international debate on scientific literacy and science pedagogy, the author takes the view that while much of value has been achieved, there is still considerable cause for concern and that it is time for action in two senses. First, it is time to take action on the school science curriculum because it no longer meets the needs, interests and aspirations of young citizens. Second, it is time for a science curriculum oriented toward sociopolitical action. The author argues that if current social and environmental problems are to be solved, we need a generation of scientifically and politically literate citizens who are not content with the role of 'armchair critic'. A particular concern in North America is the link between science education, economic globalization, increasing production and unlimited expansion - a link that threatens the freedom of individuals, the spiritual well-being of particular societies and the very future of the planet. The author's response is to advocate a politicized, issues-based curriculum focused on seven areas of concern (human health; food and agriculture; land, water and mineral resources; energy resources and consumption; industry; information transfer and transportation; ethics and social responsibility) and addressed at four levels of sophistication, culminating in preparation for sociopolitical action. The curriculum proposal outlined in the article is intended to produce activists: people who will fight for what is right, good and just; people who will work to re-fashion society along more socially-just lines; people who will work vigorously in the best interests of the biosphere. At the heart of this curriculum is a commitment to pursue a fundamental realignment of the values underpinning Western industrialized society. Achieving that goal is a formidable task - one that will not be achieved by conventional approaches to curriculum development and teacher education. The author's solution is action research linked to community involvement.
The language of friendship: Genre in the conversations of preschool children

This article presents findings of a pilot project for a study investigating the language of preschool-aged peers, with particular attention to differences in genre that were evident in the dyadic play of children who self-identified as being ‘very best friends’ as opposed to ‘just a little bit’ friends. Participants were three 5-year-old boys in a preparatory class in regional Queensland, Australia. Friendship nominations were derived from a friendship circle activity during which children nominated whether their classmates were ‘very best’, ‘good’ or ‘a little bit’ friends. In this observational study, the three participating children were paired in different combinations of high- and low-level friendships, and their conversations were video- and audio-recorded during a 30-minute play session with open-ended materials. The conversations were analysed to identify the presence of specific genres within a framework driven by systemic functional linguistic theory. The analysis revealed several different genres that occurred across the three conversations and the linguistic features that accompanied these genres. Furthermore, differing levels of friendship appeared to be accompanied by differences in genre use. Findings suggest some valuable questions about the relationship between language and preschool friendships that provide avenues for future research.
Insights into Base Selectivity from the 1.8 Å Resolution Structure of an RB69 DNA Polymerase Ternary Complex

Bacteriophage RB69 DNA polymerase (RB69 pol) has served as a model for investigating how B family polymerases achieve a high level of fidelity during DNA replication. We report here the structure of an RB69 pol ternary complex at 1.8 Å resolution, extending the resolution from our previously reported structure at 2.6 Å [Franklin, M. C. , et al. (2001) Cell 105, 657−667]. In the structure presented here, a network of five highly ordered, buried water molecules can be seen to interact with the N3 and O2 atoms in the minor groove of the DNA duplex. This structure reveals how the formation of the closed ternary complex eliminates two ordered water molecules, which are responsible for a kink in helix P in the apo structure. In addition, three pairs of polar−nonpolar interactions have been observed between (i) the Cα hydrogen of G568 and the N3 atom of the dG templating base, (ii) the O5′ and C5 atoms of the incoming dCTP, and (iii) the OH group of S565 and the aromatic face of the dG templating base. These interactions are optimized in the dehydrated environment that envelops Watson−Crick nascent base pairs and serve to enhance base selectivity in wild-type RB69 pol.
Model-driven Engineering in the Development of Ubiquitous Applications: Technologies, Tools and Languages

Model-driven Engineering (MDE) is an approach that considers models as the main artifacts in software development. Models are generally built using domain specific languages, such as UML and XML. These languages, in turn, are defined by their own metamodel. However, MDE is still timidly exploited and, therefore, their techniques and potential benefits are underutilized. In this context, this proposal aims to present a short course, with theoretical and practical approach, covering the basics of MDE as well as key frameworks and languages available for its support, aiming at the construction of ubiquitous applications. By the end of the short course, each participant will have the necessary background to be able to build a graphical modeling tool to design models in accordance with a particular metamodel. These models can then be used to document and maintain systems from different domains.
Respecting regional culture in an international multi-site study: a derived etic method

In order to look across three cultures at the meanings of celebratory food preparation for older women, researchers in Thailand, America and New Zealand collaboratively designed a derived etic method that respected each culture while allowing cultural comparison of food-related occupations. Anticipating differences in practices at each site, the inquiry broadly addressed who was involved, the tasks of preparing, sharing and offering food, and the physical and social contexts in which the tasks were performed. A seven-step process emerged with alternating collaborative action to design the study and advance analysis, undertake site-specific data collection and analysis of emic and later, conduct etic interpretation. Strategies to support collaboration, address issues relating to translation of data and analysis, and minimize domination of the western researchers are reported, along with critical examination of the method as enacted. Challenges and benefits of working as an international collaboration are identified.
E-Government Adoption and Acceptance: A Literature Review

Despite increased research interest on e-government, the field currently lacks sound theoretical frameworks that can be useful in addressing two key issues concerning the implementation of e-government systems: (1) a better understanding of the factors influencing the adoption of e-government systems, and (2) the integration of various e-government applications. The objective of this paper is to provide a foundation towards the development of a theoretical framework for the implementation of e-government systems via extensive literature review, which resulted in (1) a synthesis of existing empirical findings and theoretical perspectives related to e-government adoption, and (2) development of the premises of a conceptual model that would reflect the multi-level and multi-dimensional nature of e-government systemsâ€™ acceptance.