Miracle-dz/UniFAR-FTUs huggingface dataset:
Screening for mutations of Bcl10 in leukaemia

The Bcl10 gene was identified through characterization of the t(1;14)(p22;q32) associated with mucosa‐associated lymphoid tissue (MALT) lymphoma. Bcl10 is implicated in the regulation of apoptosis and has been reported to be mutated in other subtypes of non‐Hodgkin's B‐cell lymphoma (B‐NHL) and leukaemic cell lines, raising the possibility that its deregulation could be implicated in other forms of haematological malignancy. We screened 226 cases, including 123 acute myeloid leukaemia (AML), 50 acute lymphoblastic leukaemia (ALL), 20 chronic myeloid leukaemia (CML), 10 chronic lymphocytic leukaemia–prolymphocytic leukaemia (CLL/PLL) and 23 cases with 1p abnormalities, for Bcl10 mutations by reverse transcription polymerase chain reaction–single‐stranded conformation polymorphism (RT‐PCR/SSCP). Three known polymorphisms and two common splice variants were identified; however, no mutations were detected. One splice variant led to a 33‐bp in frame deletion, whereas the other caused a 16‐bp deletion predicting C‐terminal truncation of Bcl10. However, both splice variants were also detected in normal bone marrow, suggesting that they are unlikely to be of pathogenetic significance. Furthermore, Southern blot analysis revealed no rearrangements of Bcl10 among 16 ALL and 11 cases of haematological malignancy with 1p abnormalities. Our results suggest that mutation of the Bcl10 gene as a mechanism of tumorigenesis is not associated with leukaemia.
Toward a Unified Model of Human Motivation

Motivational theory has taken many forms throughout history, reflecting the scientific paradigms and current concerns of the day. The result is a diverse array of theoretical constructs and core motive concepts, with no systematic integration of this work. This paper proposes a unified model that places motivational concepts from past work within a comprehensive descriptive structure, akin to the periodic table of elements in chemistry. Starting from the precept that all human motivation is a search for change, the model identifies two key taxonomic questions: “Change where? ” and “What type of change? ” The result is a 3 × 3 matrix with rows that represent answers to the “Change where? ” question (within the self, within the material world, within the social world), and columns that represent answers to the “What type of change? ” question (change in potential/expectations for life, change in process/experience of living, and change in outcomes/evaluation of life activities). The matrix generates nine motivational domains—each reflecting the properties of its respective rows and columns. The model accounts for virtually all of the motives proposed by the major motivational theorists of the last century. By introducing a potentially precise common language in the taxonomy of motives, it is hoped that the model can provide a foundation for the systematic study of individual development, for the analysis of personality and cultural differences, and for investigating situational dynamics in human behavior.
Putting a big thing into a little hole: Teenage girls’ accounts of sexual initiation

The rise in adolescent coitus in the late 1970s and early 1980s provoked many studies of teenage contraceptive practice. Drawing on 400 in‐depth interviews with teenage girls, this article considers the quality of teenage girls’ sexual initiations, comparing the family and sexual histories of girls who describe sexual initiation as painful, boring, or disappointing with those of girls who emphasize sexual curiosity, desire, and pleasure. In conclusion, the article draws several recommendations for sexual education.
On the Problem of Grounding a Relational Probabilistic Conditional Knowledge Base

For first-order probabilistic knowledge representation, grounding is an important means to define a semantics for knowledge bases which extends the propositional semantics. However, naive approaches to grounding may give rise to conflicts and inconsistencies, in particular, if the formalism involves point probabilities, in contrast to using approximative or interval-based probabilities. In this paper, we formulate properties that can guide the search for suitable grounding operators. Moreover, we present three operators the most sophisticated of which implements a stratified use of a specificity relation so that more specific information on objects is given priority over less specific information.
Western Trauma Association critical decisions in trauma: penetrating neck trauma.

T his is a recommended algorithm of the Western Trauma Association for the management of penetrating neck trauma that has penetrated the platysma muscle of the neck. Because of the paucity of recent prospective randomized trials on the evaluation and management of penetrating neck injury, the current algorithm and recommendations are based on available published prospective cohort, observational, and retrospective studies and the expert opinion of the Western Trauma Association members. The algorithm (Fig. and accompanying text represents a safe and reasonable approach to this difﬁcult injury type and attempts to incorporate the advent of recent advances in radiographic screening and selective or expectant management practice. We recognize that there will be variability in decision making, local resources, institutional consensus, and patient-speciﬁc factors that may require deviation from the algorithm presented. This annotated algorithm is meant to serve as a basis from which protocols at individual institutions can be developed or serve as a quick bedside reference for clinicians. The algorithm contains letters A through J, which correspond to the lettered text. Their purpose is to succinctly navigate the reader thru the algorithm and discuss those points, which require further elucidation or where data are lacking.
Combining HMM-based melody extraction and NMF-based soft masking for separating voice and accompaniment from monaural audio

Modern monaural voice and accompaniment separation systems usually consist of two main modules: melody extraction and time-frequency masking. A main distinction between different separation systems lies in what approaches are used for the two modules. Popular techniques for melody extraction include hidden Markov models (HMMs) and non-negative matrix factorization (NMF), and masking includes hard and soft masking. This paper investigates the flaw of NMF-based melody extraction, and proposes the combination of HMM-based melody extraction (equipped with a newly-defined feature) and NMF-based soft masking. Evaluations on two publicly available databases show that the proposed system reaches state-of-the-art performance and outperforms several other combinations.
Superconducting cosmic strings and primordial nucleosynthesis.

We show that the presence of superconducting cosmic strings in the early Universe may have dramatic consequences for primordial nucleosynthesis. Due to the enormous currents that they potentially can carry, very large magnetic fields can be produced in the vicinity of such strings. As they then move through the primordial plasma, charged particles are deflected away by the magnetic pressure surrounding the strings. We show that the predicted primordial abundances can differ radically from standard big-bang predictions, and may even be consistent with an Ωb=1 universe.
Maternal Supportiveness of Infants at 1, 2, and 3 Years of Age in Low-Income Families: Associations With Maternal Characteristics, Child Characteristics, and Developmental Outcomes at 5 Years

Maternal Supportiveness of Infants at 1, 2, and 3 Years of Age in Low-Income Families: Associations With Maternal Characteristics, Child Characteristics, and Developmental Outcomes at 5 Years Aliza W. Pressman This study investigated maternal supportiveness of infants at 1, 2, and 3 years of age in low-income families. Maternal supportiveness over time was categorized as stably low, stably medium, stably high, increasing, or decreasing. The study determined associations between supportiveness group and (a) maternal characteristics, (b) child characteristics, and (c) child-development outcomes at age 5 years. The child-development outcomes were cognitive and social-emotional outcomes as measured by the Leiter-R, Peabody Picture Vocabulary Test-Third Edition, Woodcock-Johnson® III Tests of Achievement, Achenbach Child Behavior Checklist Aggressive Behavior subtest, and various measures from the Head Start Family and Child Experiences Survey. The study’s data derived from the nationally representative Early Head Start Research and Evaluation Project, in which maternal supportiveness was assessed by means of observations of mother-infant play interactions. The current study’s sample consisted of 1,019 mother-infant dyads. Findings differed from those of previous studies that investigated higher income, less ethnically diverse samples. Maternal-supportiveness groups significantly differed with respect to the child characteristic of emotion regulation and the following maternal characteristics: ethnicity, level of education, marital status, parenting stress, and knowledge of infant development. They also significantly differed with regard to the following child outcomes: sustained attention, receptive language, preliteracy, math skills, prosocial skills, and aggression. Stably high supportiveness was associated with the best cognitive and social-emotional outcomes, and stably low supportiveness was associated with the worst outcomes. Timing of maternal supportiveness was less predictive of child outcomes than level of maternal supportiveness, suggesting that mothers may benefit from intervention to improve supportiveness at any point during their child’s first 3 years.
A Clinical Procedure for Case-Specific Analytical Validation of Mono-Modality Image Fusion in Image Guided Radiotherapy

Image guided radiotherapy can be performed by fusing the daily treatment and reference planning computed tomography scans. Decreased errors in patient setup can lead to smaller target margins that significantly improve treatment efficacy and outcome. The purpose of this work is to present a clinical procedure to analytically compute the accuracy of the registration. Accepted techniques such as normalized mutual information intensity based three-dimensional image registration can be validated using a large automated point sample. Without a user independent metric it is not possible to determine effect of the fusion error on the calculated correction in patient setup
A preliminary study comparing psychological factors associated with erectile dysfunction in heterosexual and homosexual men

Abstract This study examined whether a group of homosexual men experiencing erectile difficulties showed differences from heterosexual men with the same clinical presentations in a number of affective and cognitive variables associated with erectile difficulties. In particular it was hypothesized that homosexual participants would present with a different set of cognitions surrounding the erectile dysfunction (and would be less affected by performance anxiety, a construct shown to be a significant variable in the aetiology of erectile dysfunction in heterosexual couples). Results drawn from standarized and purpose-designed questionnaires indicated that heterosexual men in the participant group were significantly more likely to be affected by performance anxiety, and showed higher levels of general anxiety, depression and lower levels of self-esteem than their homosexual counterparts. The homosexual group was found to be more affected by a number of cognitive variables including HIV anxiety, internalized h.
Does Monitoring Performance Eliminate the Ego-depletion Phenomenon and Influence Perception of Time?

This study evaluated whether monitoring performance against an objective measure eliminated ego-depletion and enhanced the accuracy of one's temporal perception. Two independent variables, depletion level and monitoring status, were manipulated in 83 undergraduates (71% female, median age = 21.2 years), who were then measured for persistence on a series of anagram puzzles (first dependant variable) and subjective time perception estimates (second dependant variable). While depleted participants in the nonmonitoring condition exhibited significantly less persistence than those in the performance-monitoring or low-depleted conditions, no differences in time perception scores were detected among the four groups. It appears monitoring behavior against an objective measure is a robust tool to improve self-control ability in depleted individuals; however, this effect is unrelated to perception of time.
Benzo(a)pyrene-albumin adducts in humans exposed to polycyclic aromatic hydrocarbons in an industrial area of Poland.

OBJECTIVES: The interaction of benzo(a)pyrene with serum albumin was measured in an attempt to identify the actual exposure and to evaluate albumin adduct measurements as biomarkers for exposure monitoring. METHODS: Benzo(a)pyrene-diol-epoxide (BPDE)-albumin adducts were measured by competitive enzyme linked immunosorbent assay (ELISA) in plasma of coke oven plant workers from three plants and from people living in a highly industrialised area of Silesia in Poland. Due to the high air concentrations of polycyclic aromatic hydrocarbons (PAHs) in this area, a control group was selected from a rural non-industrialised area in Poland. Breathing zone air measurements of PAHs were collected from some of the participants. RESULTS: Coke oven plant workers and non-occupationally exposed people had similar concentrations of albumin adducts whereas the rural controls were significantly lower (2.74 fmol adducts/microgram albumin (SEM 0.124)). The mean concentration of BPDE-albumin adduct in plasma of both the occupational and the environmental groups were significantly higher in the summer samples (4.34 fmol adducts/microgram albumin (SEM 0.335) and 4.55 fmol adducts/microgram albumin (SEM 0.296), respectively) than in the winter samples (3.06 fmol adducts/microgram albumin (SEM 0.187) and 3.04 fmol adducts/microgram albumin (SEM 0.184), respectively) even though the air measurements showed higher concentrations of PAHs in the winter. The statistical analysis did not show any effects of air exposures on concentrations of BPDE-albumin adduct. CONCLUSIONS: A multiple regression analysis of the measured concentrations of BPDE-albumin adducts for all the groups, during both seasons, indicates that occupational exposures do not contribute significantly to the formation of adducts. In general, the concentrations of albumin adducts found vary within relatively small limits for the two seasons and between the various groups of participants. No extreme differences were found.
OPEN INNOVATION MATURITY FRAMEWORK

Open innovation can introduce new ways of organizing the innovation process within companies, but these new activities and processes naturally require some time to mature and work effectively. Continuous improvement of capacities and results is therefore required (Teece et al., 1997; Winter, 2003). The basic aim of this research was to develop, in collaboration with 15 companies, an open innovation maturity framework to measure and benchmark excellence in open innovation. The open innovation maturity framework that was developed combines metrics in several areas of open innovation to illustrate the expertise of that organization. It can reveal organizational excellence as well as areas of improvement in order to reach the next level of maturity.
The Soul of Environmental Activists

ecently in the Soul of the Wilderness segment, one IJW editor called soul the “experiences, feelings, and values behind the information presented” about wilderness (Martin 2002, p. 3). Soul in this sense is not limited to wilderness advocates. Most environmental activists have special feelings for the natural environment. Robert Perschel of The Wilderness Society recently observed that “we need to find a way to bring spirit and values and ethics and religion into our lives, into our work, and into our contact with the entire landscape—not just those places that are protected forever as wilderness” (Perschel 2002, p. 150). Spirit and soul, although intangible, may enhance environmental experiences at all landscape scales and may play an important, but transparent, role in the lives of committed environmental activists. The interrelationship of environment and spirit is not a surprise to most of us. We have our own personal experience, and we have a growing literature on religious and spiritual orientations to the environment. This literature is largely historical, anecdotal, or philosophical. Most of the literature explores the environmental attitudes and actions that emerge from religious or spiritual contexts, such as Christianity, Buddhism, Islam, or American Indian spiritualities (Gottlieb 1996; Kearns 1996; Shultz, Zelenzy, and Dalrymple, 2000). Spirituality and soul, however, may also emanate from environmental experiences, attitude, and action (Gair 1999; Johnson 2002; Leenders and Henderson 1991; Shaw and WendlBerry 1999; Stringer and McAvoy 1992). The idea that soul is discovered as people become engaged in environmental experience and action is what inspired my recent study into the spirituality of highly committed environmentalists. I interviewed 18 individuals who were engaged in a variety of action on behalf of the environment. At first I asked general, open-ended questions of these activists. The questions became more focused as I integrated the framework provided by Joel Kovel (1991) in his five essays on spirit. Kovel presented an interrelated set of experiences that have the potential to bring soul into one’s life. These soul experiences are grounded in the direct experience of a vital force, spirit, God, or in experiencing vital spirit through other forms or beings. When such personal experiences are imbued with deep meaning, they may create a desire to take action that leads one to a spiritual path. I found, as all who have explored the phenomenon of spirituality have found, that language inhibits the full expression of those deep meanings. With this limitation in mind, here are some of the soul and spiritual experiences of highly committed environmentalists.
Prejudice And Minority Proportion: Contact Instead Of Threat Effects

Research on the relationship between the percentage of an ethnic minority population in a geographically defined area and majority members' prejudice typically reveals a positive covariation. This result supports threat theory. Recent studies, however, have demonstrated significant exceptions. Based on intergroup contact theory, the present study demonstrates with a German probability sample that an increase in the percentage of ethnic minority members affords the majority greater opportunity for intergroup contact and thus reduces the majority's prejudice. These results also falsify frequent political claims that an increase in the minority population above a particular threshold necessarily worsens intergroup relations. The data are discussed in the context of the divergence of our results from those of other studies. Whether threat or contact effects occur may depend on an array of moderators that require further testing.
CRB1 mutations in inherited retinal dystrophies

Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from leber congenital amaurosis (LCA) to rod–cone dystrophy, also called retinitis pigmentosa (RP). Moreover, retinal dystrophies resulting from CRB1 mutations may be accompanied by specific fundus features: preservation of the para‐arteriolar retinal pigment epithelium (PPRPE) and retinal telangiectasia with exudation (also referred to as Coats‐like vasculopathy). In this publication, we report seven novel mutations and classify over 150 reported CRB1 sequence variants that were found in more that 240 patients. The data from previous reports were used to analyze a potential correlation between CRB1 variants and the clinical features of respective patients. This meta‐analysis suggests that the differential phenotype of patients with CRB1 mutations is due to additional modifying factors rather than particular mutant allele combination. Hum Mutat 33:306–315, 2012. © 2011 Wiley Periodicals, Inc.
Mice Lacking the kf-1 Gene Exhibit Increased Anxiety- but not Despair-Like Behavior

KF-1 was originally identified as a protein encoded by human gene with increased expression in the cerebral cortex of a patient with Alzheimer's disease. In mouse brain, kf-1 mRNA is detected predominantly in the hippocampus and cerebellum, and kf-1 gene expression is elevated also in the frontal cortex of rats after chronic antidepressant treatments. KF-1 mediates E2-dependent ubiquitination and may modulate cellular protein levels as an E3 ubiquitin ligase, though its target proteins are not yet identified. To elucidate the role of kf-1 in the central nervous system, we generated kf-1 knockout mice by gene targeting, using Cre-lox recombination. The resulting kf-1−/− mice were normal and healthy in appearance. Behavioral analyses revealed that kf-1−/− mice showed significantly increased anxiety-like behavior compared with kf-1+/+ littermates in the light/dark transition and elevated plus maze tests; however, no significant differences were observed in exploratory locomotion using the open field test or in behavioral despair using the forced swim and tail suspension tests. These observations suggest that KF-1 suppresses selectively anxiety under physiological conditions probably through modulating protein levels of its unknown target(s). Interestingly, kf-1−/− mice exhibited significantly increased prepulse inhibition, which is usually reduced in human schizophrenic patients. Thus, the kf-1−/− mice provide a novel animal model for elucidating molecular mechanisms of psychiatric diseases such as anxiety/depression, and may be useful for screening novel anxiolytic/antidepressant compounds.
Microinjection-based generation of mutant mice with a double mutation and a 0.5 Mb deletion in their genome by the CRISPR/Cas9 system

The clustered regularly interspaced short palindromic repeat (CRISPR)/CRISPR-associated protein 9 (Cas9) system is a useful tool for genome editing. In this study, using a microinjection-based CRISPR/Cas9 system, we efficiently generated mouse lines carrying mutations at the Irx3 and Irx5 loci, which are located in close proximity on a chromosome and are functionally redundant. During the generation of Irx3/Irx5 double mutant mice, a deletion of ~0.5 Mb between the Irx3 and Irx5 loci was unintentionally identified in 6 out of 27 living pups by PCR based genotyping analysis. This deletion was confirmed by DNA fluorescence in situ hybridization analysis of fibroblasts. These results indicate that the mutant mice with a deletion of at least 0.5 Mb in their genome can be generated by the CRISPR/Cas9 system through microinjection into fertilized eggs. Our findings expand the utility of the CRISPR/Cas9 system in production of disease model animals with large deletions.