Miracle-dz/UniFAR-FTUs huggingface dataset:
Tibial muscular dystrophy in a Belgian family

We report a Belgian family with autosomal dominant, late‐onset, distal myopathy with selective foot extensor muscle involvement of the lower legs. Linkage to the tibial muscular dystrophy (TMD) locus 2q31 was not evident at first because of incomplete disease penetrance in a 50‐year‐old asymptomatic family member. An abnormal tibialis anterior muscle biopsy established her subclinical status and linkage of the family to the TMD locus. Mutation analysis showed a disease‐specific, heterozygous point mutation in the last exon, Mex6, of the titin gene. This is the third mutation found in TMD and the second European family with TMD outside the Finnish population, suggesting that titinopathies may occur in various populations. Ann Neurol 2003
Lexical Activation in Bilinguals' Speech Production: Language-Specific or Language-Independent?

Abstract An adaptation of the phoneme monitoring task for speech production was used to determine whether the language that bilinguals are not using is nonetheless activated. Three experiments were conducted in which highly fluent Catalan-Spanish bilinguals had to decide whether a certain phoneme was in the Catalan name of a picture. Phonemes could be either part of the Catalan word, part of its Spanish translation, or absent from both nouns. Results showed that participants took longer to reject the phoneme appearing in the Spanish word than the control one. A fourth control experiment involving monolinguals indicated that these results were not due to specific characteristics of the material. The same pattern was replicated at different SOAs (−2000, +200, +400), which leads us to conclude that both the target language and the language not in use are simultaneously activated.
Quantitative Evaluation of the Extent of Hepatic Enzyme Changes in Reye Syndrome Compared with Normal Liver or with Non-Reye Liver Disorders: Objective Criteria for Animal Models

ABSTRACT: Five enzymes were measured in 50 liver specimens (18 normal liver, 20 Reye liver, 12 diverse liver disorders other than Reye syndrome). The enzymes were: glutamic dehydrogenase (E.C. 1.4.1.3), monoamine oxidase (E.C. 1.4.3.4), lactate dehydrogenase (E.C. 1.1.1.27), DgIucose- 6-phosphate dehydrogenase (E.C. 1.1.1.49), catalase (E.C. 1.11.1.6). The Reye syndrome group showed significant decreases in glutamic dehydrogenase (56%) and monoamine oxidase (70%) compared to normal control tissue and these changes were not characteristic of the non-Reye liver disorder group as a whole. Neither catalase nor lactate dehydrogenase appeared to be altered significantly in the Reye or in the abnormal control group compared with normal controls. Thus, only the prominent decreases in the mitochondrial enzyme activities appeared to be highly characteristic of Reye syndrome. Paradoxically, the means of the five hepatic enzymes and the admission levels of two serum enzymes indicative of liver damage (alanine and aspartate aminotransferase) were remarkably similar for both survivors and nonsurvivors of Reye syndrome.
Death, bereavement and college students: A descriptive Analysis

The author presents two studies dealing with death and bereavement in the lives of college students. The first study, conducted with 994 undergraduates in an introductory course on human development, involved a survey about death and bereavement in their lives. The second study consisted of interviews with 18 undergraduates bereaved over the death of a family member or a friend. Interview topics included reminiscence, avoidance, emotions, expectations about recovery, and means used to cope. A finding with serious implications is that a significant portion of the students surveyed reported recent experiences with death. Religion emerged as important in the lives of many students, and provided what they considered a useful means of coping with bereavement. The few bereaved students who sought professional help said they had been disappointed with what was offered. On average bereaved students said talking about the death proved helpful, but many persons seemed uncomfortable when the topic was mentioned.Two .
Individual Characteristics and Social Function Attitudes on Luxury Brand Purchase Intentions

Abstract This study investigates the motivations to purchase luxury brands by examining how individual characteri-stics (need for uniqueness, self-monitoring, and vanity) influence affective luxury brand attitudes and pur-chase intentions through two social function attitudes (self-expression attitude and self-presentation attitude)based on the functional theory of attitudes. On-line surveys were implemented and 314 consumers betweenthe ages of 20 and 50 were recruited. Using SPSS 18.0 and AMOS 18.0, confirmatory factor analysis formeasurements and structural equation modeling analysis for hypotheses testing were implemented. The re-sults show that the need for uniqueness and self-monitoring by consumers have positive influences on self-expression and self-presentation attitudes toward luxury brands, respectively. The results indicate that theneed by consumers for uniqueness motivates a self-expression attitude toward luxury brands and that thetrait of self-monitoring motivates a self-presentation attitude toward luxury brands. Consumer vanity alsopositively influences both social function attitudes toward luxury brands. Self-expression and self-presenta-tion attitudes toward luxury brands have positive influences on luxury brand purchase intentions throughan affective attitude that facilitates a mediating role between two social function attitudes and the purchaseintentions of consumers. This research contributes to a deeper understanding of the formation process ofKorean consumers' purchase intentions for luxury brands and the literature on the role of related variables(need for uniqueness, self-monitoring, vanity, self-expression, self-presentation, affective attitude, and pur-chase intention). The findings provide a theoretical background to launch a cross-cultural study. The conclu-sion discusses the practical implications and limitations.Key words: Self-expression, Self-presentation, Need for uniqueness, Self-monitoring, Vanity; 자기표현, 자기제시, 독특성 욕구, 자기감시, 허영
Mode of action of the chloroethylating and carbamoylating moieties of the prodrug cloretazine

Cloretazine is an antitumor sulfonylhydrazine prodrug that generates both chloroethylating and carbamoylating species. The cytotoxic potency of these species was analyzed in L1210 leukemia cells using analogues with chloroethylating or carbamoylating function only. Clonogenic assays showed that the chloroethylating-only agent 1,2-bis(methylsulfonyl)-1-(2-chloroethyl)hydrazine (90CE) produced marked differential cytotoxicity against wild-type and O6-alkylguanine-DNA alkyltransferase–transfected L1210 cells (LC10, 1.4 versus 31 μmol/L), indicating that a large portion of the cytotoxicity was due to alkylation of DNA at the O-6 position of guanine. Consistent with the concept that O-6 chloroethylation of DNA guanine progresses to interstrand cross-links, the comet assay, in which DNA cross-links were measured by a reduction in DNA migration induced by strand breaks, showed that cloretazine and 90CE, but not the carbamoylating-only agent 1,2-bis(methylsulfonyl)-1-[(methylamino)carbonyl]hydrazine (101MDCE), produced DNA cross-links and that cloretazine caused more DNA cross-links than 90CE at equimolar concentrations. Cell cycle analyses showed that 90CE and 101MDCE at concentrations of 5 and 80 μmol/L, respectively, produced similar degrees of G2-M arrest. 90CE produced selective inhibition of DNA synthesis after overnight incubation, whereas 101MDCE caused rapid and nonselective inhibition of RNA, DNA, and protein syntheses. Both 90CE and 101MDCE induced phosphorylation of histone H2AX, albeit with distinct kinetics. These results indicate that (a) differential expression of O6-alkylguanine-DNA alkyltransferase in tumor and host cells seems to be responsible for tumor selectivity exerted by cloretazine; (b) 101MDCE enhances DNA cross-linking activity; and (c) 90CE induces cell death at concentrations lower than those causing alterations in the cell cycle and macromolecular syntheses. [Mol Cancer Ther 2006;5(4):969–76]
Embodied Subjectivities: Nine Young Women Talking Dance

Abstract The purpose of this paper is to examine nine Australian young women's embodied experiences of dance. The young women were all amateur dancers involved in weekly jazz, tap, and ballet dance classes at the same dance studio. In this paper, embodiment is defined as multidimensional (Burkitt 1999). The authors explore the ways the corporeal and the discursive converage to make possible particular experiences in dance and particular gendered selves. The analysis highlights the dominance of traditional notions of femininity and beauty in shaping the embodied experiences of these young women dancers. This paper discusses the need for conceptualizing the body's role in the production of gendered selves. Teachers can encourage students to question and challenge the dominant gendered discourse, while also recognizing the importance of the bodily investments of individuals in particular gendered identities.
Thirty Years of Territorial Politics

For many years, territorial politics was neglected in political science under the influence of a modernist paradigm according to which territory gives way to function as a principle of social and political organisation. In the last 30 years it has received more attention as territorial political movements have made an impact. This has provoked a reconsideration not just of the present but also of the past, as scholars have identified the persistence of territorial politics even within unitary states. There is a continuing separation of the study of local and urban from regional politics, although the respective literatures address similar issues and use similar concepts. The ‘new regionalism’ literature examines the emergence of territorial systems of action under the impact of state transformation and transnational integration. There are marked differences in territorial politics in western and east-central Europe, not because of primordial ethnic characteristics, but because of the evolution of the state in the post-war era.
Education and debate

Infectious syphilis is a disease of considerable public health importance, with overwhelming health effects if it is not treated. These include cardiovascular and neurological disease and adverse pregnancy outcomes, such as stillbirth and congenital syphilis. Further, concurrent infection with syphilis can facilitate transmission of HIV. Syphilis is most infectious through sexual contact during the primary or secondary stages (see box 1), but transmission can also occur during the early latent stage. Syphilis is preventable, and treatable with effective and inexpensive antibiotics. The possible resurgence of infectious syphilis, a disease previously believed to be close to eradication, is a matter of increasing global concern. This article outlines recent changes in the epidemiology of infectious syphilis in England, including the features of a number of outbreaks. It aims to increase health professionals’ awareness of the clinical features of infectious syphilis, and to consider approaches to the investigation and control of syphilis and other outbreaks of sexually transmitted infection.
The HCR-20 and post-discharge outcome in male patients discharged from medium security in the UK

The Historical Clinical Risk–20 (HCR–20) [Webster et al., 1997a,b] is a structured clinical judgement 20–item risk assessment scale, which was developed for use in Canadian forensic facilities. Data on the HCR–20 in UK samples is limited. We examined the predictive validity of the HCR–20 in relation to post-discharge outcomes in male medium secure patients who had a history of violent offending. HCR–20 scores (omitting the psychopathy item) at the point of discharge were rated in 70 violent patients released into the community using case file data. Relationships between post-discharge outcomes (reconviction, readmission, self/collateral reports of violence) over a minimum two-year follow-up period were rated blind to the HCR–20 score and examined using a variety of risk prediction statistics. HCR–20 score did not predict reconviction, but was a significant predictor of readmission and self/collateral reports of violence. Subscale analyses indicated that all subscales had predictive validity. High scores on the Historical items were better at predicting who would have poor outcome. High scores on the Clinical and Risk scales were better at predicting how long an individual remained at liberty in the community following discharge. The findings suggest that the HCR–20, without the psychopathy rating, is a reasonably robust predictor of self-reported violence and readmission in medium secure services. Our finding that it did not predict violent recidivism reflects the utility of this measure in the management of risk in violent patients discharged to the community. Aggr. Behav. 30:469–483, 2004. © 2004 Wiley-Liss, Inc.
Motion in Music: A Neurobiological Perspective

The topic of musical motion has generated a considerable amount of controversy in the past few years (P. Desain, H. Honing, H. van Thienen, & L. Windsor, 1998). In this essay it is argued that motion is central to our understanding of many aspects of music, particularly to our understanding of rhythm, and that an adequate account of motion in music requires a neurobiological perspective. Two possible mechanisms are discussed that may form a neurobiological basis for the association of motion in music: a vestibulomotor mechanism and an audio-visuo-motor mechanism. These two mechanisms in turn may mediate two distinct kinds of musical motion: gesture and locomotion.
Allozyme diversity and genetic structure of European populations of Sorbus aucuparia L. (Rosaceae: Maloideae)

Genetic diversity at 10 loci encoding six enzymes was studied in 17 European populations of Sorbus aucuparia L. (the rowan), distributed among five regions, from Finland to the Pyrenees. Levels of genetic diversity were high both at the species level (He=0.229) and within populations (mean He=0.212), whereas levels of differentiation among populations were very low (GST=0.060). These values were comparable to those observed in other woody species with similar ecological traits. Populations from the Plateau des Tailles (Belgium) exhibited an unexpectedly high level of differentiation among populations, which was tentatively explained by the recent history of colonization experienced by these populations. Despite the low overall differentiation, geographical patterns were observed. Gene flow estimates and geographical distances between pairs of populations appeared to be correlated (r=−0.483), resulting in a pattern of isolation by distance, which was disrupted to some extent by the local dynamics of the Tailles populations. Cluster analysis revealed that populations were genetically more similar to populations from the same region compared to populations from other geographical groups. Finnish populations, in particular, appeared to be highly differentiated from more southerly populations.
Inpp5f Is a Polyphosphoinositide Phosphatase That Regulates Cardiac Hypertrophic Responsiveness

Rationale: Cardiac hypertrophy occurs in response to a variety of extrinsic and intrinsic stimuli that impose increased biomechanical stress. The phosphatidylinositol 3-kinase (PI3K)/Akt pathway has previously been strongly associated with hypertrophic signaling in the heart, and with the control of cell size in multiple contexts. This pathway is tightly regulated by many factors, including a host of kinases and phosphatases that function at multiple steps in the signaling cascade. For example, the PTEN (phosphatase and tensin homolog) tumor suppressor protein is a phosphoinositide 3-phosphatase that, by metabolizing phosphatidylinositol 3,4,5-trisphosphate (PtdIns[3,4,5]P3, PIP3), acts in direct antagonism to growth factor–stimulated PI3K. Inhibition of PTEN leads to cardiomyocyte hypertrophy. Another polyphoinositide phosphatase, inositol polyphosphate-5-phosphatase F (Inpp5f) has recently been implicated in regulation of cardiac hypertrophy. Like PTEN, this phosphatase can degrade PtdIns(3,4,5)P3 and thus modulates the PI3K/Akt pathway. Objective: To characterize the role of Inpp5f in regulating cardiac hypertrophy. Methods and Results: We generated homozygous Inpp5f knockout mice and cardiac specific Inpp5f overexpression transgenic mice. We evaluated their hearts for biochemical, structural and functional changes. Inpp5f knockout mice have augmented hypertrophy and reactivation of the fetal gene program in response to stress when compared to wild-type littermates. Furthermore, cardiac overexpression of Inpp5f in transgenic mice reduces hypertrophic responsiveness. Conclusions: Our results suggest that Inpp5f is a functionally important endogenous modulator of cardiac myocyte size and of the cardiac response to stress.
God image and mood in old age: Results from a community-based pilot study in the Netherlands

Religious involvement is frequently found to be associated with less depression in later life. The emotional aspects of religiousness, such as pertaining to the God–object relationship, have not received substantial attention in empirical research among older adults, and especially not in European samples. As part of a pilot study of the Longitudinal Aging Study Amsterdam, a small sample of older church-members (n = 60), aged 68–93, filled out a questionnaire, including the Questionnaire God Image on feelings to God and perceptions of God, two of the God Image Scales designed by Lawrence on perceptions of God, the brief positive and negative religious coping scale designed by Pargament, and items on hopelessness, depressive symptoms, and feelings of guilt. Feelings of discontent towards God correlated positively with hopelessness, depressive symptoms, feelings of guilt, and also with depressive symptoms assessed 13 years earlier; these findings pertained to Protestant participants in particular. Most facets of God image, positive, critical, and about punishment reappraisals, were associated with more feelings of guilt. A possible explanation for the most pervasive finding, that feelings of discontent towards God are related to depressive symptoms, is that both, throughout life, remain rooted in insecure attachment styles.
Concerns about Death in Relation to Sex, Dependency, Guilt about Hostility and Feelings of Powerlessness

In this study, sixty-one male and sixty-five female college students in a New England state university were administered tests of dependency, guilt about hostility, Rotter's I-E scale, and tests of death concern. In addition, stories about death were subjected to thematic analysis. Results failed to show relationship between death related concerns of loss, violence-mutilation, helplessness-mastery and personality characteristics measured. Discussion of results focuses upon the importance of discriminating between affective fear of death and cognitive preoccupation with death, differences in the sexes' interpretation of questions about death, the importance of early experience in forming death attitudes.
Deciphering the principles that govern mutually exclusive expression of Plasmodium falciparum clag3 genes

The product of the Plasmodium falciparum genes clag3.1 and clag3.2 plays a fundamental role in malaria parasite biology by determining solute transport into infected erythrocytes. Expression of the two clag3 genes is mutually exclusive, such that a single parasite expresses only one of the two genes at a time. Here we investigated the properties and mechanisms of clag3 mutual exclusion using transgenic parasite lines with extra copies of clag3 promoters located either in stable episomes or integrated in the parasite genome. We found that the additional clag3 promoters in these transgenic lines are silenced by default, but under strong selective pressure parasites with more than one clag3 promoter simultaneously active are observed, demonstrating that clag3 mutual exclusion is strongly favored but it is not strict. We show that silencing of clag3 genes is associated with the repressive histone mark H3K9me3 even in parasites with unusual clag3 expression patterns, and we provide direct evidence for heterochromatin spreading in P. falciparum. We also found that expression of a neighbor ncRNA correlates with clag3.1 expression. Altogether, our results reveal a scenario where fitness costs and non-deterministic molecular processes that favor mutual exclusion shape the expression patterns of this important gene family.
RETHINKING TOKENISM:

The purpose of this article is to assess Rosabeth Moss Kanter's work on tokenism in light of more than a decade of research and discussion. While Kanter argued that performance pressures, social isolation, and role encapsulation were the consequences of disproportionate numbers of women and men in a workplace, a review of empirical data concludes that these outcomes occur only for token women in gender-inappropriate occupations. Furthermore, Kanter's emphasis on number balancing as a social-change strategy failed to anticipate backlash from dominants. Blalock's theory of intrusiveness suggests that surges in the number of lower-status members threaten dominants, thereby increasing gender discrimination in the forms of sexual harassment, wage inequities, and limited opportunities for promotion. Although Kanter's analysis of the individual consequences of tokenism was compelling to researchers and organizational change agents, continued reliance on numbers as the theoretical cause of, and as the solution to, gender discrimination in the workplace neglects the complexities of gender integration.
Perceived Paternal and Maternal Acceptance and Children's Outcomes in Colombia

The relationship between perceived paternal and maternal acceptance and children’s adjustment was analyzed. The sample consisted of 234 children and 234 parental figures (mother or primary female caregiver, and father or primary male caregiver) living in twoparent nuclear families in Colombia. The children’s age range was 7 to 13 (M = 9.7). Children completed the Parental Acceptance-Rejection Questionnaire (Child PARQ mother and father versions; Rohner, 1990), and the Personality Assessment Questionnaire (PAQ; Rohner, 1990). Parents completed the Child Behavior Checklist (CBCL; Achenbach & Edelbrock, 1983). The analyses revealed that perceived paternal and maternal acceptance were both related to self-reported children’s psychological adjustment. Perceived acceptance from mothers, but not from fathers, was directly related to children’s behavioral problems as reported by parents. Results suggested that the effect of perceived paternal acceptance on children’s behavioral problems is indirect, and that maternal acceptance mediates the effects of paternal acceptance.