Miracle-dz/UniFAR-FTUs huggingface dataset:
Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: The pitfalls of homozygosity mapping

Retinitis pigmentosa is the most common form of hereditary retinal degeneration, with a worldwide prevalence of 1 in 4,000. At least 28 genes and loci have been implicated in nonsyndromic autosomal recessive retinitis pigmentosa. Here we report two extended and highly consanguineous families segregating early onset retinitis pigmentosa. Despite the consanguinity in both families, we found allelic heterogeneity in one of them, in which affected individuals were compound heterozygotes for two different mutations of the CRB1 gene. In the second family we found evidence for locus heterogeneity. A novel homozygous mutation of RDH12 was found in only 14 of 17 affected individuals in this family. Our data indicate that in the other affected individuals the disease is caused by a different gene/s. These findings demonstrate that while homozygosity mapping is an efficient tool for identification of the underlying mutated genes in inbred families, both locus and allelic heterogeneity may occur even within the same consanguineous family. These observations should be taken into account, especially when studying common and heterogeneous recessive genetic conditions. © 2009 Wiley‐Liss, Inc.
Assessing Ideational Fluency in Primary Students in Hong Kong

We tested 462 primary students (244 boys and 218 girls) in Grades 1, 2, and 3 from 20 primary schools in Hong Kong. Their ideational fluency was assessed by using 2 items each on 3 types of verbal tasks (instances, uses, and similarities) and 2 types of figural tasks (pattern meanings and line meanings) from the Wallach-Kogan tests. On the average, students generated about 20 instances, gave 9 alternative uses of a common object, listed 11 possible similarities between a pair of named objects, and gave 13 and 15 possible meanings for visual patterns and lines, respectively. Although boys scored consistently higher in ideational fluency than girls on verbal tasks, significant gender differences did not emerge for figural tasks. Significantly higher scores on ideational fluency were evident for students in higher grades especially for verbal tasks. The use of the Wallach-Kogan tests in the assessment of divergent thinking ability and creativity for Chinese children is discussed.
The Dyslexia Spectrum: Continuities Between Reading, Speech, and Language Impairments

D. V. M. Bishop and M. J. Snowling (2004) proposed that 2 dimensions of language are required to conceptualize the relationship between dyslexia and specific language impairment: phonological skills and wider language skills beyond phonology (grammatical, semantic, and pragmatic skills). In this article, we discuss the commonalities between reading and language disorders within the context of a model of reading development that posits phonological skills are a critical foundation for learning to read. Children with dyslexia and specific language impairment typically share a continuity of risk for decoding deficits in reading that can be traced to phonological problems, whereas children who have wider language problems are at risk of reading comprehension deficits. We review evidence that there are both genetic and environmental influences on the language skills that contribute to literacy development before turning to consider implications for the assessment, diagnosis, and treatment of reading disorders.
DNA Damage and Pulmonary Hypertension

Pulmonary hypertension (PH) is defined by a mean pulmonary arterial pressure over 25 mmHg at rest and is diagnosed by right heart catheterization. Among the different groups of PH, pulmonary arterial hypertension (PAH) is characterized by a progressive obstruction of distal pulmonary arteries, related to endothelial cell dysfunction and vascular cell proliferation, which leads to an increased pulmonary vascular resistance, right ventricular hypertrophy, and right heart failure. Although the primary trigger of PAH remains unknown, oxidative stress and inflammation have been shown to play a key role in the development and progression of vascular remodeling. These factors are known to increase DNA damage that might favor the emergence of the proliferative and apoptosis-resistant phenotype observed in PAH vascular cells. High levels of DNA damage were reported to occur in PAH lungs and remodeled arteries as well as in animal models of PH. Moreover, recent studies have demonstrated that impaired DNA-response mechanisms may lead to an increased mutagen sensitivity in PAH patients. Finally, PAH was linked with decreased breast cancer 1 protein (BRCA1) and DNA topoisomerase 2-binding protein 1 (TopBP1) expression, both involved in maintaining genome integrity. This review aims to provide an overview of recent evidence of DNA damage and DNA repair deficiency and their implication in PAH pathogenesis.
Early Prevention of Physical Child Abuse and Neglect: Existing Evidence and Future Directions

Early intervention approaches to prevent physical child abuse and neglect hold great promise, seeking to avert the problem before it ever occurs, while promoting positive parenting from the outset. This article synthesizes the rapidly expanding empirical base on early prevention, examining the support undergirding this modality's overall effectiveness and directions it provides for discerning optimal prevention strategies. The 18 controlled studies in this area reveal a promising yet complex picture with regard to successful intervention designs. Several emerging trends point to (a) the essential role of parenting education support, (b) the importance of linking families with formal and/or informal supports, (c) the importance of coupling longer term interventions and those that employ paraprofessional helpers with a moderate to high degree of service intensity, (d) a clinical advantage for programs that employ universalistic intake procedures over those that screen for psychosocial risk, and (e) the importance of health education to reduce medically related maltreatment risks. Further, the review points to a number of significant directions for future program design and study, particularly with respect to adequately addressing parental powerlessness in the makeup of physical abuse and neglect risk.
Skeleton-based multiview reconstruction

The advantage of skeleton-based 3D reconstruction is to completely generate a single 3D object from well chosen views. Having numerous views is necessary for a reliable reconstruction but projections of skeletons lead to different topologies. We reconstruct 3D objects with curved medial axis (whose topology is a tree) from the perspective skeletons on an arbitrary number of calibrated acquisitions. The main contribution is to estimate the 3D skeleton, from multiple images: its topology is chosen as the closest to those of the perspective skeletons on the set of images, which means that the number of topology changes to map the 3D skeleton topology to topologies on images is minimum. This way, the number of matched branches is maximum.
Data Cleaning for XML Electronic Dictionaries via Statistical Anomaly Detection

Many important forms of data are stored digitally in XML format. Errors can occur in the textual content of the data in the fields of the XML. Fixing these errors manually is time-consuming and expensive, especially for large amounts of data. There is increasing interest in the research, development, and use of automated techniques for assisting with data cleaning. Electronic dictionaries are an important form of data frequently stored in XML format that frequently have errors introduced through a mixture of manual typographical entry errors and optical character recognition errors. In this paper we describe methods for flagging statistical anomalies as likely errors in electronic dictionaries stored in XML format. We describe six systems based on different sources of information. The systems detect errors using various signals in the data including uncommon characters, text length, character-based language models, word-based language models, tied-field length ratios, and tied-field transliteration models. Four of the systems detect errors based on expectations automatically inferred from content within elements of a single field type. We call these single-field systems. Two of the systems detect errors based on correspondence expectations automatically inferred from content within elements of multiple related field types. We call these tied-field systems. For each system, we provide an intuitive analysis of the type of error that it is successful at detecting. Finally, we describe two larger-scale evaluations using crowdsourcing with Amazon's Mechanical Turk platform and using the annotations of a domain expert. The evaluations consistently show that the systems are useful for improving the efficiency with which errors in XML electronic dictionaries can be detected.
Mining Feedbacks and Opinions in Educational Environments

People, such as students, employees and public, are talking about the institution and its business everyday positively or negatively by means of feedbacks, opinions, comments etc through various social platforms. Their feedbacks and opinions are valuable resources for the institution if listened properly. Since feedbacks are by and large unstructured in nature, understanding and extracting the meaningful information from massive data collections becomes a real challenge. This paper outlines the various tasks that are to be carried out during the knowledge discovery process from the learning environments setting.
High sedimentary oxygen consumption indicates that sewage input from small islands drives benthic community shifts on overfished reefs

SUMMARY Small-island coral reef ecosystems are usually closely coupled to the activities of human inhabitants. Ahus Island (Papua New Guinea) is an isolated Pacific island with a rapidly growing population, heavy reliance on marine resources and limited infrastructure. We hypothesized that untreated sewage was driving distinct benthic assemblages around Ahus and neighbouring uninhabited Onetah. At sites with varying proximities to beach toilets, fore-reef herbivorous fish biomass and benthic composition were measured alongside reef-flat sedimentary oxygen consumption (SOC); a high SOC rate reflects high organic input into coastal waters, thus serving as a potential indicator of sewage input. Fish biomass was low (17.1–20.1 g m–2), but consistent between sites. However, cyanobacteria dominated the fore-reef closest to toilets (62 ± 3%) with highest reef-flat SOC, whereas hard corals dominated furthest away (63 ± 1%), where SOC was lowest. To our knowledge, this is the first study that used SOC to detect local differences in sewage pollution. The results indicate that whilst corals can maintain their dominance on overfished reefs, additional sewage stress may drive pronounced benthic shifts, highlighting the urgency to improve small-island waste management.
Subjective well-being among African-Americans with spinal cord injury: an exploratory study between men and women.

OBJECTIVE The purpose of this study was to identify gender differences in subjective well-being among 309 African-American participants with spinal cord injury (SCI). DESIGN Cross-sectional. SETTING A Southeastern specialty hospital. PARTICIPANTS There were a total of 309 participants, all of whom were African-Americans. All participants had traumatic SCI, were at least 18 years or older at the time of the study, and a minimum of one year had passed since SCI onset. MAIN OUTCOME MEASURES Measures of subjective well-being included the Life Situation Questionnaire--Revised, Purpose in Life scale, and the Older Adult Health and Mood Questionnaire. RESULTS Multiple gender differences were observed, with women reporting higher scores on depressive symptoms and negative affect, but lower scores on purpose in life. Other significant findings were observed related to self-reported problems, with men reporting greater problems with pressure ulcers and sexual issues and women reporting greater problems in several areas related to coping and affect. The only gender difference in life satisfaction indicated greater satisfaction with sex life among women. CONCLUSION It is clear from the findings that differences do exist among male and female African-Americans with spinal cord injuries. More research is needed to definitively outline differences.
Role of knowledge management and analytical CRM in business: data mining based framework

Purpose – The purpose of the paper is to provide a thorough analysis of the concepts of business intelligence (BI), knowledge management (KM) and analytical CRM (aCRM) and to establish a framework for integrating all the three to each other. The paper also seeks to establish a KM and aCRM based framework using data mining (DM) techniques, which helps in the enterprise decision‐making. The objective is to share how KM and aCRM can be integrated into this seamless analytics framework to sustain excellence in decision making using effective data mining techniques and to explore how working on such aCRM system can be effective for enabling organizations delivering complete solutions.Design/methodology/approach – This paper is based on focused and dedicated study of the literature present on the aCRM, KM and data mining techniques. The paper considered how to develop a strategy and operational framework that would build aCRM on the foundation of existing DM techniques and KM approach to meet the business chall.
Machine learning based detection of vandalism in Wikipedia across languages

Applying machine learning algorithms for detecting vandalism in two languages are described in this paper. Vandalism is a major issue in Wikipedia as it accounts for about 1% of edits during 2015. The majority of vandalism is from human editors, whose vandalism can be traced through access and edit logs. In this paper, we propose using a list of classifiers in one language, and then evaluate them across languages in two datasets: the hourly count of views of each Wikipedia article, and the used edit history of articles. For this purpose, Simple English and Albanian Wikipedia datasets will be used. The results obtained show that the characteristic features of vandalism can be learned from view and edit patterns, and models built in one language can be applied successfully to other languages.
Multiplication of Polyoma Virus in Mouse-Hamster Somatic Hybrids: a Hybrid Cell Line Which Produces Viral Particles Containing Predominantly Host Deoxyribonucleic Acid

The multiplication of polyoma virus in a mouse-hamster (3T3 × BHK) somatic hybrid line (10A), which, although permissive for viral multiplication, produces very low amounts of virus, has been studied. In this cell line, the efficiency of productive infection is high, but the yield of infectious virus is on the order of 0.5% of that of 3T3 cells. The amount of viral deoxyribonucleic acid (DNA) synthesized by these cells upon infection is about 5% of that of 3T3 cells. An examination of the virus produced in hybrid 10A revealed that it was only one-tenth as infectious as the virus grown in 3T3. Although the viral DNA synthesized in the infected 10A cells is normal, the DNA extracted from purified virus grown in 10A consists of ∼10% of normal, supercoiled polyoma DNA molecules and of ∼90% linear DNA molecules with a sedimentation coefficient of 14 to 16S. These DNA molecules appear to be of cellular origin but contain a limited amount of viral DNA sequences. The host DNA-containing particles are not infectious but appear to possess some biological activity; they give rise to a weak complementation effect, and part of them are able to induce T-antigen synthesis. In addition, the host DNA present in these particles is predominantly that which has been synthesized after infection. The correlation between the block in viral DNA synthesis in this cell line and the abnormal encapsidation of host DNA is discussed.
Exploring Transformational Processes and Meaning in LDS Marriages

For decades, research has shown that religion is correlated with several important aspects of marriage. However, most studies have looked only at distal aspects of a couple's religion, such as church attendance or religious salience, and are therefore hard pressed to explain precisely how religion and marriage correlate. This qualitative study examines the connection Mormon (LDS) couples perceive between their religious faith and their marriage and family relationships. For this study we used a subset of a national sample of 445 individuals from across the United States who were interviewed over several years; this subset consisted of 48 individuals (24 couples) living in seven different states (25% of whom are ethnic minorities) that we interviewed. The interviews specifically sought to understand how these couples connected their faith to five transformational constructs: commitment, sacrifice, coping, conflict resolution, and forgiveness. Each couple shared specific beliefs and practices that impacted their approach to these constructs. Analysis was then made identifying patterns and parallels.
Large scale app recommendation in Ant Financial

Nowadays, the number of mobile applications (Apps) is rapidly increasing due to different kinds of user needs. Existing App recommendation models can not scale to practical large data scenarios. In this paper, we present a large scale App recommendation framework, which has been applied into real application in Ant Financial for recommending Apps for hundreds of millions of users. We first present feature engineering, including a novel way to high-level features, and then use a linear ranking model to make recommendation. We also report the encouraging results through the experiments in real large scale dataset.
Knowledge-based Dynamic Capabilities and Innovation in Networked Environments

PurposeThe purpose of this paper is to clarify the concept of dynamic capabilities from the knowledge‐based perspective and investigate the mechanisms of dynamic capabilities on innovation performance in networked environments.Design/methodology/approachThis paper designed a seven‐point Likert questionnaire measuring the dynamic capabilities, innovation performance and network embeddedness and a sample of 218 Chinese manufacturing firms were surveyed. Structural equation modeling method was used to statistically test the theoretical hypothesis.FindingsSignificant relationships were found between dynamic capabilities and innovation performance and knowledge combination capability played a mediating role in this relationship. For the links between network embeddedness and dynamic capabilities, knowledge acquisition capability was affected mainly by relational embeddedness and the diversity of network and joint problem solving contributed much to knowledge combination capability.Research limitations/implicationsThis paper deepened the understanding on dynamic capabilities and the mechanism between network embeddedness, knowledge‐based dynamic capabilities and innovation performance. In the future, the construct of knowledge‐based dynamic capabilities calls for more examination and verification.Originality/valueDrawing on the literature of dynamic capabilities framework, knowledge‐based view and the network model, this study extends the literature of dynamic capabilities and its link with innovation performance in networked environments. Using survey data and structural equation modeling, this study offers rich evidence on the contribution of dynamic capabilities on innovation performance and the antecedents of dynamic capabilities.
The collision channel with recovery

We consider a simple conceptual model of random accessing to a receiver deploying multiuser detection techniques. The model is a simple extension of Massey and Mathys' collision channel without feedback in which a certain probability of recovery from collision is introduced. As the main result, we derive the slot-synchronized capacity region of this recovery channel and show that for sufficiently powerful multiuser detectors, maximal performance is achieved without any sophisticated transmission protocols. We also explore the effect of a simple fading model.
A Comparison of Methods for Adaptive Treatment Selection

Traditionally drug development is generally divided into three phases which have different aims and objectives. Recently so‐called adaptive seamless designs that allow combination of the objectives of different development phases into a single trial have gained much interest. Adaptive trials combining treatment selection typical for Phase II and confirmation of efficacy as in Phase III are referred to as adaptive seamless Phase II/III designs and are considered in this paper. We compared four methods for adaptive treatment selection, namely the classical Dunnett test, an adaptive version of the Dunnett test based on the conditional error approach, the combination test approach, and an approach within the classical group‐sequential framework. The latter two approaches have only recently been published. In a simulation study we found that no one method dominates the others in terms of power apart from the adaptive Dunnett test that dominates the classical Dunnett by construction. Furthermore, scenarios under which one approach outperforms others are described. (© 2008 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Infant genotype may moderate sensitivity to maternal affective communications: Attachment disorganization, quality of care, and the DRD4 polymorphism

Abstract Disorganized attachment is an early predictor of the development of psychopathology in childhood and adolescence. Lyons-Ruth, Bronfman, and Parsons (1999) developed the AMBIANCE coding scheme to assess disrupted communication between mother and infant, and reported the link between maternal behavior and disorganized attachment. The Hungarian group found an association between a polymorphism of the DRD4 gene and disorganized attachment (Gervai et al., 2005; Lakatos et al., 2000, 2002). The present collaborative work investigated the interplay between genetic and caregiving contributions to disorganized attachment. Mother–infant dyads (138), from a Hungarian low-social-risk sample (96) and a US high-social-risk sample (42), were assessed for infant disorganized attachment behavior, for DRD4 gene polymorphisms, and for disrupted forms of maternal affective communication with the infant. In accord with literature reports, we found a robust main effect of maternal AMBIANCE scores on infant disorganization. However, this relation held only for the majority of infants who carried the short form of the DRD4 allele. Among carriers of the 7-repeat DRD4 allele, there was no relation between quality of maternal communication and infant disorganization. This interaction effect was independent of degree of social risk and maternal DRD4 genotype.