Miracle-dz/UniFAR-FTUs huggingface dataset:
Ser234Leu missense mutation in the A1 domain of factor V causing moderate factor V deficiency in a Chinese family

Aims: To investigate the molecular defects in a Chinese pedigree with inherited factor V (FV) deficiency. Methods: Laboratory studies including activated partial thromboplastin time (APTT), prothrombin (PT), and thrombin time (TT) were tested in a patient and his family members. FV antigen (FV:Ag) and FV activity (FV:C) were measured by both ELISA and one‐stage clotting assays. All the exons, exon‐intron boundaries and promoter regions of FV gene were analysed by direct sequencing. The detected mutations were introduced independently by site‐directed mutagenesis into a pMT2/FV mammalian expression plasmid containing the full‐length FV cDNA and the wild‐type and mutant FV proteins were expressed in COS‐7 and CHO cells. Results: The proposita, a 52‐year‐old Chinese man, had no spontaneous bleeding syndrome. It was found that he had prolonged APTT and PT, 52 s and 22.8 s, respectively, a FV:C of 5.5% and a FV:Ag of 33.1%. Gene analysis showed the proposita was a compound heterozygote of FV mutations, carrying Ser234Leu and Arg413Cys. The FV antigen and activity levels of the Ser234Leu and Arg413Cys mutants are lower than wild type both in cell lysates and in culture media. Protein degradation inhibitor experiment in transfected COS‐7 cells showed that Ser234Leu and Arg413Cys degraded intracellularly through the lysosomal pathway. CHO cells expressing either the wild‐type or the mutant FV were subjected to immunofluorescence staining with the indicated antibodies and organelle markers, indicating that Ser234Leu and Arg413Cys can be transported to Golgi partially. Conclusions: We identified the molecular pathological mechanism of the novel C785T mutation causing type I inherited FV deficiency for the first time.
Bayesian semiparametric power spectral density estimation with applications in gravitational wave data analysis

The standard noise model in gravitational wave (GW) data analysis assumes detector noise is stationary and Gaussian distributed, with a known power spectral density (PSD) that is usually estimated using clean off-source data. Real GW data often depart from these assumptions, and misspecified parametric models of the PSD could result in misleading inferences. We propose a Bayesian semiparametric approach to improve this. We use a nonparametric Bernstein polynomial prior on the PSD, with weights attained via a Dirichlet process distribution, and update this using the Whittle likelihood. Posterior samples are obtained using a blocked Metropolis-within-Gibbs sampler. We simultaneously estimate the reconstruction parameters of a rotating core collapse supernova GW burst that has been embedded in simulated Advanced LIGO noise. We also discuss an approach to deal with nonstationary data by breaking longer data streams into smaller and locally stationary components.
Mental Barriers and Links Connecting People of Different Cultures: Experiential vs. Conceptual Bases of Different Types of the WE-Concepts

There are numerous determinants of closeness in relationships between people. Cognitive representations of others in one's own mind are considered especially meaningful (Cooley, 1902; Durkheim, 1953; Markus and Moya, 2010). In particular, openness to others depends on the types of mental links between the Self and Others, leading to the formation of the WE concept. The WE concept has specific affective and behavioral components. Some studies have demonstrated it in a spectacular way. Brewer and Gardner (1996) found that the number of instances of the word “we” used in neutral texts correlated with the lower or higher degree of further conformist reactions in participants who read given text. The simple “we” label (used in neutral context), associated in the mind with social context, stimulated behavior oriented toward social expectations. The WE concept connects people, but at the same time can be the basis for powerful barriers and, sometimes, hostility. Empirical findings have shown the significance of the WE–THEY mental differentiation. Using the minimal group paradigm, psychologists demonstrated that even artificial groups (identified based on trivial criteria) displayed differentiation of in-group vs. out-group attitudes, especially evident in-group favoritism (Billig and Tajfel, 1973; Brewer, 1979; Tajfel, 1981, 1982). Even preschool children display out-group discrimination (Bar-Tal, 1996). In our studies (Jarymowicz, 2004), similarly to adults, the 9–10 years old participants displayed the IAT effect (Greenwald et al., 1998), connecting Pols rather with “flowers” and Germen rather with “insects. ” However, people are able to develop mental representations in such a way as to be able to separate cognitive differentiation from evaluative discrimination.
The effects of oral administration of (—)‐menthol on nasal resistance to airflow and nasal sensation of airflow in subjects suffering from nasal congestion associated with the common cold

Abstract— The effects of oral administration of a lozenge containing 11 mg (—)‐menthol on nasal resistance to airflow (NAR) and nasal sensation of airflow in 62 subjects suffering from nasal congestion associated with naturally acquired common cold infection have been studied. NAR was measured by posterior rhinomanometry and nasal sensation of airflow by means of a visual analogue scale (VAS). The effects of the lozenge were compared with a candy placebo lozenge in a double blind randomized trial. NAR showed a significant increase (P < 0.05) in both the menthol and placebo groups over the 2 h experiment with no difference between the groups at any time. The VAS scores showed significant changes of subjective improvement in nasal sensation of airflow (P < 0.001) in the menthol‐treated group 10 min after dosing whereas the placebo group showed no change. It is concluded that dosing with 11 mg menthol in subjects with common cold has no effect on NAR as measured by posterior rhinomanometry but causes a marked change in nasal sensation of airflow with a subjective sensation of nasal decongestion.
Association between the Pro12Ala Polymorphism of Peroxisome Proliferator-Activated Receptor Gamma 2 and Inflammatory Bowel Disease: A Meta-Analysis

Background Peroxisome proliferator-activated receptor gamma (PPARγ), a nuclear receptor, has been implicated playing a role in the development of inflammatory bowel disease (IBD). However, previous studies evaluating the association between the PPARγ2 Pro12Ala polymorphism and IBD are inconsistent. We performed a meta-analysis to determine whether the PPARγ2 Pro12Ala mutation was associated with the presence of IBD. Methods and Findings Electronic databases were searched for case-control studies evaluating the association between the Pro12Ala mutation and the presence of IBD. Effects were summarized with the methods recommended by the Cochrane Collaboration. A total of 7 studies including 1002 ulcerative colitis (UC) cases, 1090 Crohǹs disease (CD) cases and 1983 controls were involved in this meta-analysis. In the overall analysis, no significant association of this polymorphism with UC or CD was found. In the subgroup analyses in different populations, AlaAla genotype seemed to protect the European Caucasian population against the development of CD (Pro vs Ala: OR = 1.135, 95%CI = 0.951–1.354, P = 0.162, Bon = 1.000; ProPro vs ProAla: OR = 1.042, 95%CI = 0.852–1.273, P = 0.690, Bon = 1.000; ProPro vs AlaAla: OR = 2.379, 95%CI = 1.110–5.100, P = 0.026, Bon = 0.156; ProAla vs AlaAla: OR = 2.315, 95%CI = 1.064–5.037, P = 0.034, Bon = 0.204; Pro homozygotes vs Ala positives: OR = 1.094, 95%CI = 0.899–1.330, P = 0.371, Bon = 1.000; Pro positives vs Ala homozygotes: OR = 2.360, 95%CI = 1.103–5.053, P = 0.027, Bon = 0.162; heterozygotes vs all homozygotes: OR = 0.976, 95%CI = 0.799–1.192, P = 0.809, Bon = 1.000). There was no significant association of this polymorphism with UC or CD in the East Asian population and the Turkish population. Conclusion AlaAla genotype may be a protective factor in the European Caucasian population against the development of CD in a recessive way.
The Geography of Comparative Welfare State Research: A Comment

HAL is a multi-disciplinary open access archive for the deposit and dissemination of scientific research documents, whether they are published or not. The documents may come from teaching and research institutions in France or abroad, or from public or private research centers. L’archive ouverte pluridisciplinaire HAL, est destinée au dépôt et à la diffusion de documents scientifiques de niveau recherche, publiés ou non, émanant des établissements d’enseignement et de recherche français ou étrangers, des laboratoires publics ou privés. The Geography of Comparative Welfare State Research: A Comment Sven E. O. Hort
Describing and Modeling Repetitive Sequences in Dna Describing and Modeling Repeated Sequences in Dna I Have Also Benefited Tremendously from Discussions about My Research With

Title of dissertation: DESCRIBING AND MODELING REPETITIVE SEQUENCES IN DNA Suzanne S. Sindi, Doctor of Philosophy, 2006 Dissertation directed by: Professor James A. Yorke Department of Mathematics Department of Physics and Professor Brian R. Hunt Department of Mathematics A significant fraction of the genome, i.e. the complete DNA sequence, of most organisms is comprised of sequences for which there are similar copies somewhere within the genome. While most repetitive DNA was originally thought to have no function, there is a growing body of literature to suggest that repetitive sequences are vital to the genome. The goal of this dissertation is to analyze statistical properties of repetitive sequences in the genomes of a variety of organisms. We find a variety of striking features of repetitive sequence in the human genome and the genomes of C. elegans (worm), A. thaliana (mustard seed) and D. melanogaster (fruit fly) with some comparison to S. cerevisiae (yeast) and E. coli (a bacteria). We find that the number of times each 40-mer (sequence of 40 bases) occurs in a genome is approximated by a power law distribution. We analyze in detail the separation between copies of 40-mers that occur exactly twice in a chromosome and observe that a significant portion of these pairs, that we call “proximal”, have extremely small separations, while the remaining “distant” pairs have a distribution more consistent with being uniformly distributed throughout the chromosome. We introduce a type of exactly repetitive region, which we call a “repeat string,” and find the distribution of lengths of repeat strings is roughly a power law. Since these properties have been verified for the genomes of a variety of organisms there may be a common explanation of their origin. When possible, we suggest evolutionary mechanisms that could cause the emergence of such statistical properties. In particular, we developed a model of the evolution of repeat strings in a genome. We find that, under quite general conditions, the stationary distribution of our evolutionary model is the Pareto distribution, a close relative of the power law distribution. DESCRIBING AND MODELING REPEATED SEQUENCES IN DNA
Outcomes in Pediatric Atypical Spitz Tumors Treated Without Sentinel Lymph Node Biopsy

Abstract: The diagnosis of atypical Spitz tumor (AST) in a pediatric patient conveys an uncertain potential for malignancy. Although pediatric melanoma is rare, AST may be treated aggressively with sentinel lymph node biopsy (SLNB) and subsequent completion lymphadenectomy. These procedures have unclear therapeutic benefit and potential morbidity. We aimed to collect outcomes on children with AST treated with excision alone to assist in the management of these lesions. We queried our institution’s pathology database for AST specimens submitted between 1994 and 2009. A dermatopathologist reviewed pathology slides to confirm AST diagnosis. Clinical information was obtained from medical records, and outcomes surveys were administered to children with AST. Twenty‐nine patients met AST diagnostic criteria and were included in this study. Mean age at first excision was 9.0 ± 4.2 (range 2.3–17.5), and 19 patients underwent more than one excision procedure to achieve clear margins. No patient had SLNB. Fourteen patients (48%) with mean follow‐up time of 8.4 years (range 3.5–15.8) completed clinical outcomes surveys. Outcomes with mean follow‐up time of 2.8 years (range 0.02–8.1 years) were obtained for 10 additional patients from medical records. There were no reports of recurrence, additional lesions, or metastases in these 24 patients. We report one of the largest series of children with AST treated using excision alone and who remain disease free after a significant follow‐up period. Our data suggest that SLNB is not warranted in the routine management of pediatric AST. We recommend complete excision with clear margins and careful clinical follow‐up.
DNA in situ sensitivity to denaturation as a marker of human breast tumors.

DNA content and in situ sensitivity to denaturation were analyzed by flow cytometry of individual cell nuclei isolated from 40 breast carcinomas, nine fibroadenomas, and 14 samples of normal breast tissue. The extent of DNA denaturation induced by acid was expressed as alpha t, which represents the fraction of DNA staining metachromatically red with the fluorochrome acridine orange. In all cases of normal breast tissue DNA was very sensitive to denaturation and the frequency distribution of alpha t values was unimodal with over 90% of cells having alpha t above 0.6. All fibroadenomas were diploid; four had unimodal alpha t as in normal tissue and five had a bimodal distribution with an additional peak below 0.6. Twenty-seven adenocarcinomas (67%) had a DNA index above 1.0; of these 24 had bimodal alpha t distributions. Among 13 diploid carcinomas 10 had bimodal alpha t distributions. Statistically significant differences were observed in alpha t distributions of normal versus tumor breast tissue (P less than 0.005). In normal tissue and in all tumors a predominant proportion of cells with S and G2 + M DNA content were characterized by DNA resistant to denaturation (alpha t below 0.6). Of interest, the diploid cells from aneuploid tumors which may represent reactive host cells often displayed bimodal distributions of alpha t. These results may be interpreted in light of earlier studies demonstrating increased resistance of DNA to denaturation in diffuse chromatin of proliferating and/or transcriptionally active cells, and greater sensitivity to denaturation of DNA in condensed chromatin of quiescent cells. Thus, the presence of the second peaks representing cells with low alpha t values in breast tumors may indicate a high proportion of proliferating cells, whereas high alpha t populations may represent quiescent and differentiating (condensed chromatin) or dying (pycnotic nuclei) cells. It is likely that the low alpha t diploid cells detected in aneuploid tumors may represent the reactive (transcriptionally active and/or proliferating) infiltrating host cells (i.e., lymphocytes, monocytes) whose presence may also be of prognostic value. The data suggest that a DNA denaturability assay may be useful to characterize tumor and infiltrating host cell populations.
Some histochemical aspects of the mast cell with special reference to alkaline phosphatase and cytochrome oxidase

None of the many functions suggested for the tissue mast cell (hlichels, '37 ; Holmgren, '40 ; and Holmgren and Wilander, '37) has been completely accepted. The literature on the physiological significance and the chemical nature of the mast granules is highly controversial (Michels, '37 ; Jorpes, Holmgren and Wilander, '37). Any information concerning the presence and the localization of enzymes and metabolites in the mast cell and in its granules, should be of value in the interpretation of the function of this cell. With this in mind, we are reporting the results of a series of histochemical tests on the mast cell. The relation of some of these reactions to the mast granules is discussed.
Legal, Psychological, and Behavioral Outcomes

States have responded to the public's outrage at rising juvenile crime by revising their transfer statutes to make it easier to transfer juvenile offenders for trial and sentencing in criminal court and possible incarceration in adult prisons. These changing trends in juvenile justice raise three questions about what actually happens to juveniles once they are in the adult criminal justice system. To what extent does trial in adult court and/or incarceration in adult prisons promote or retard community protection, juvenile offenders' accountability, and the development of competencies in juvenile offenders? This article discusses state transfer laws and the legal consequences of criminal court prosecution, and analyzes current research on deterrence effects of transfer laws, conviction and sentencing in juvenile versus criminal court, recidivism rates in juvenile versus criminal court, and conditions and programming in juvenile versus adult correctional facilities. The research findings have two important implications for juvenile justice policy: the number of juvenile cases transferred to criminal court should be minimized, and imprisonment of juveniles in adult facilities should be avoided whenever possible. These implications are discussed, and directions for future research are identified.
How Can Significance Tests Be Deinstitutionalized?

The purpose of this article is to propose possible solutions to the methodological problem of null hypothesis significance testing (NHST), which is framed as deeply embedded in the institutional structure of the social and organizational sciences. The core argument is that, for the deinstitutionalization of statistical significance tests, minor methodological changes within an unreformed epistemology will be as unhelpful as emotive exaggerations of the ill effects of NHST. Instead, several institutional-epistemological reforms affecting cultural-cognitive, normative, and regulative processes and structures in the social sciences are necessary and proposed in this article. In the conclusion, the suggested research reforms, ranging from greater emphasis on inductive and abductive reasoning to statistical modeling and Bayesian epistemology, are classified according to their practical importance and the time horizon expected for their implementation. Individual-level change in researchers' use of NHST is unlikely if it is not facilitated by these broader epistemological changes.
Applying Problem Behavior Theory in a Developing Arabic Country

The current study tested the applicability of Jessor’s Problem Behavior Theory in explaining problem behavior among adolescents in Egypt. Data were collected from 887 adolescents (52% males) with a mean age of 13.4 years. Participants rated three measures of problem behaviors (delinquent behavior, cigarette smoking, and problem substance use), three types of psychosocial protection (models protection, controls protection, and support protection), and three types of psychosocial risk (models risk, opportunity risk, and vulnerability risk). Female adolescents reported lower levels of problem behavior involvement than male adolescents. Psychosocial protective and risk factors accounted for significant variation in adolescents’ problem behavior involvement. For males, models risk was the most important risk factor in problem behavior involvement variation, whereas for females, opportunity risk was the most important risk factor. Present findings are useful in understanding problem behavior involvement among Egyptian youth and informing the design of interventions to reduce problem behavior.
Signposts for a Critical Educational Policy Analysis

This paper criticizes current trends in educational policy analysis, drawing attention to: the vagueness of conceptualization; the inattention to values and ethical issues; the narrow role of the policy analyst; the dominance of functionalist, systems theory perspectives and the technically rational implications for policy making which follow from these; the absence of educational terms of reference; and the failure of policy analysis to ameliorate socio-educational problems. This paper presents an alternative perspective based upon critical social theory, particularly the work of the Frankfurt School and Habermas. This alternative strives to overcome many of the problems associated with traditional approaches, while developing specifically educational criteria for policy analysis constructed with an ethical and political framework of social justice.
Naive Probability: Model-Based Estimates of Unique Events

We describe a dual-process theory of how individuals estimate the probabilities of unique events, such as Hillary Clinton becoming U.S. President. It postulates that uncertainty is a guide to improbability. In its computer implementation, an intuitive system 1 simulates evidence in mental models and forms analog non-numerical representations of the magnitude of degrees of belief. This system has minimal computational power and combines evidence using a small repertoire of primitive operations. It resolves the uncertainty of divergent evidence for single events, for conjunctions of events, and for inclusive disjunctions of events, by taking a primitive average of non-numerical probabilities. It computes conditional probabilities in a tractable way, treating the given event as evidence that may be relevant to the probability of the dependent event. A deliberative system 2 maps the resulting representations into numerical probabilities. With access to working memory, it carries out arithmetical operations in combining numerical estimates. Experiments corroborated the theory's predictions. Participants concurred in estimates of real possibilities. They violated the complete joint probability distribution in the predicted ways, when they made estimates about conjunctions: P(A), P(B), P(A and B), disjunctions: P(A), P(B), P(A or B or both), and conditional probabilities P(A), P(B), P(B|A). They were faster to estimate the probabilities of compound propositions when they had already estimated the probabilities of each of their components. We discuss the implications of these results for theories of probabilistic reasoning.
Sex Roles and Social Perception

Recent research by Abbey (1982) revealed that men are more likely to perceive the world in sexual terms and to make sexual judgments than women are. The present investigation focused on the comprehensiveness of Abbey's findings, drawing from the theories of androgyny and gender schema. Males and females viewed a 5-minute videotaped conversation of a male-female dyad. They then completed questionnaires concerning the interaction, providing ratings for both actors on various trait terms. Male participants were then separated into androgynous, undifferentiated, and masculine sex-typed groups, using the Bem Sex-Role Inventory. Results revealed that undifferentiated males rated the male actor significantly higher, on specific sexual terms, than the other groups rated him. The findings are discussed in terms of gender roles as distinct social skills. They support the view that masculinity and femininity, as measured by the Bem Sex-Role Inventory and similar instruments, are actually social competencies that contribute to an individual's personal and social effectiveness.
Determining the Number of Factors in Approximate Factor Models

In this paper we develop some econometric theory for factor models of large dimensions. The focus is the determination of the number of factors, which is an unresolved issue in the rapidly growing literature on multifactor models. We propose some panel C(p) criteria and show that the number of factors can be consistently estimated using the criteria. The theory is developed under the framework of large cross-sections (N) and large time dimensions (T). No restriction is imposed on the relation between N and T. Simulations show that the proposed criteria yield almost precise estimates of the number of factors for configurations of the panel data encountered in practice.