214 research outputs found

    Women Managers in High Tech: A Discursive Perspective

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    This paper brings a discourse analytic perspective to an examination of the experiences of women managersworking in the high tech sector. A detailed examination of the discursive descriptions of strategies, experiences, andadvice reveals a tension between the use of unequivocal language for providing advice for managing everydaygender challenges encountered in the high tech workplace and the use of much more tempered language when tryingto articulate an understanding for the basis of the issues and when discussing recommendations for change. Thepaper highlights the insights into gendered organizational experiences and understandings garnered through a closeexamination of organizational discourse

    E-MSD: an integrated data resource for bioinformatics

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    The Macromolecular Structure Database (MSD) group (http://www.ebi.ac.uk/msd/) continues to enhance the quality and consistency of macromolecular structure data in the worldwide Protein Data Bank (wwPDB) and to work towards the integration of various bioinformatics data resources. One of the major obstacles to the improved integration of structural databases such as MSD and sequence databases like UniProt is the absence of up to date and well-maintained mapping between corresponding entries. We have worked closely with the UniProt group at the EBI to clean up the taxonomy and sequence cross-reference information in the MSD and UniProt databases. This information is vital for the reliable integration of the sequence family databases such as Pfam and Interpro with the structure-oriented databases of SCOP and CATH. This information has been made available to the eFamily group (http://www.efamily.org.uk/) and now forms the basis of the regular interchange of information between the member databases (MSD, UniProt, Pfam, Interpro, SCOP and CATH). This exchange of annotation information has enriched the structural information in the MSD database with annotation from wider sequence-oriented resources. This work was carried out under the ‘Structure Integration with Function, Taxonomy and Sequences (SIFTS)’ initiative (http://www.ebi.ac.uk/msd-srv/docs/sifts) in the MSD group

    Wearable devices can predict the outcome of standardized 6-minute walk tests in heart disease

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    Wrist-worn devices with heart rate monitoring have become increasingly popular. Although current guidelines advise to consider clinical symptoms and exercise tolerance during decision-making in heart disease, it remains unknown to which extent wearables can help to determine such functional capacity measures. In clinical settings, the 6-minute walk test has become a standardized diagnostic and prognostic marker. We aimed to explore, whether 6-minute walk distances can be predicted by wrist-worn devices in patients with different stages of mitral and aortic valve disease. A total of n = 107 sensor datasets with 1,019,748 min of recordings were analysed. Based on heart rate recordings and literature information, activity levels were determined and compared to results from a 6-minute walk test. The percentage of time spent in moderate activity was a predictor for the achievement of gender, age and body mass index-specific 6-minute walk distances (p < 0.001; R2 = 0.48). The uncertainty of these predictions is demonstrated

    Buenas prácticas docentes y tutoriales en el ámbito universitario: la visión del docente

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    Good teaching and tutoring practices continue to be a challenge for teachers. The objective of this study has been to define good practices in teaching and tutoring in the university context, as well as to show, through the testimonies of teachers considered excellent, the guidelines to achieve the desired good practices. A total of 22 university teachers participated in the study. A qualitative research approach has been used. The results show that good practices refer mainly to the attention to the students, the pedagogical capacity of the teaching staff and the knowledge and use of ICT.Las buenas prácticas docentes y tutoriales siguen siendo un desafío para el profesorado. El objetivo de este estudio ha sido definir las buenas prácticas en docencia y tutoría en el contexto universitario, así como poner de manifiesto, a través de los testimonios de docentes considerados excelentes, las pautas para lograr las deseadas buenas prácticas. Un total de 22 docentes universitarios han participado en el estudio. Se ha empleado un enfoque de investigación cualitativo. Los resultados ponen de manifiesto que las buenas prácticas hacen referencia principalmente a la atención al alumnado, la capacidad pedagógica del profesorado y el conocimiento y uso de las TIC

    Widespread Epigenetic Abnormalities Suggest a Broad DNA Methylation Erasure Defect in Abnormal Human Sperm

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    Male-factor infertility is a common condition, and etiology is unknown for a high proportion of cases. Abnormal epigenetic programming of the germline is proposed as a possible mechanism compromising spermatogenesis of some men currently diagnosed with idiopathic infertility. During germ cell maturation and gametogenesis, cells of the germ line undergo extensive epigenetic reprogramming. This process involves widespread erasure of somatic-like patterns of DNA methylation followed by establishment of sex-specific patterns by de novo DNA methylation. Incomplete reprogramming of the male germ line could, in theory, result in both altered sperm DNA methylation and compromised spermatogenesis.We determined concentration, motility and morphology of sperm in semen samples collected by male members of couples attending an infertility clinic. Using MethyLight and Illumina assays we measured methylation of DNA isolated from purified sperm from the same samples. Methylation at numerous sequences was elevated in DNA from poor quality sperm.This is the first report of a broad epigenetic defect associated with abnormal semen parameters. Our results suggest that the underlying mechanism for these epigenetic changes may be improper erasure of DNA methylation during epigenetic reprogramming of the male germ line

    SnoRNA Snord116 (Pwcr1/MBII-85) Deletion Causes Growth Deficiency and Hyperphagia in Mice

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    Prader-Willi syndrome (PWS) is the leading genetic cause of obesity. After initial severe hypotonia, PWS children become hyperphagic and morbidly obese, if intake is not restricted. Short stature with abnormal growth hormone secretion, hypogonadism, cognitive impairment, anxiety and behavior problems are other features. PWS is caused by lack of expression of imprinted genes in a ∼4 mb region of chromosome band 15q11.2. Our previous translocation studies predicted a major role for the C/D box small nucleolar RNA cluster SNORD116 (PWCR1/HBII-85) in PWS. To test this hypothesis, we created a ∼150 kb deletion of the >40 copies of Snord116 (Pwcr1/MBII-85) in C57BL/6 mice. Snord116del mice with paternally derived deletion lack expression of this snoRNA. They have early-onset postnatal growth deficiency, but normal fertility and lifespan. While pituitary structure and somatotrophs are normal, liver Igf1 mRNA is decreased. In cognitive and behavior tests, Snord116del mice are deficient in motor learning and have increased anxiety. Around three months of age, they develop hyperphagia, but stay lean on regular and high-fat diet. On reduced caloric intake, Snord116del mice maintain their weight better than wild-type littermates, excluding increased energy requirement as a cause of hyperphagia. Normal compensatory feeding after fasting, and ability to maintain body temperature in the cold indicate normal energy homeostasis regulation. Metabolic chamber studies reveal that Snord116del mice maintain energy homeostasis by altered fuel usage. Prolonged mealtime and increased circulating ghrelin indicate a defect in meal termination mechanism. Snord116del mice, the first snoRNA deletion animal model, reveal a novel role for a non-coding RNA in growth and feeding regulation

    Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogs

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    BACKGROUND: Generalized progressive retinal atrophy (gPRA) is a hereditary ocular disorder with progressive photoreceptor degeneration in dogs. Four retina-specific genes, ATP binding cassette transporter retina (ABCA4), connexin 36 (CX36), c-mer tyrosin kinase receptor (MERTK) and photoreceptor cell retinol dehydrogenase (RDH12) were investigated in order to identify mutations leading to autosomal recessive (ar) gPRA in 29 breeds of dogs. RESULTS: Mutation screening was performed initially by PCR and single strand conformation polymorphism (SSCP) analysis, representing a simple method with comparatively high reliability for identification of sequence variations in many samples. Conspicuous banding patterns were analyzed via sequence analyses in order to detect the underlying nucleotide variations. No pathogenetically relevant mutations were detected in the genes ABCA4, CX36, MERTK and RDH12 in 71 affected dogs of 29 breeds. Yet 30 new sequence variations were identified, both, in the coding regions and intronic sequences. Many of the sequence variations were in heterozygous state in affected dogs. CONCLUSION: Based on the ar transmittance of gPRA in the breeds investigated, informative sequence variations provide evidence allowing indirect exclusion of pathogenetic mutations in the genes ABCA4 (for 9 breeds), CX36 (for 12 breeds), MERTK (for all 29 breeds) and RDH12 (for 9 breeds)

    The Maristán stigma scale: a standardized international measure of the stigma of schizophrenia and other psychoses

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    Background: People with schizophrenia face prejudice and discrimination from a number of sources including professionals and families. The degree of stigma perceived and experienced varies across cultures and communities. We aimed to develop a cross-cultural measure of the stigma perceived by people with schizophrenia.Method: Items for the scale were developed from qualitative group interviews with people with schizophrenia in six countries. The scale was then applied in face-to-face interviews with 164 participants, 103 of which were repeated after 30 days. Principal Axis Factoring and Promax rotation evaluated the structure of the scale; Horn’s parallel combined with bootstrapping determined the number of factors; and intra-class correlation assessed test-retest reliability.Results: The final scale has 31 items and four factors: informal social networks, socio-institutional, health professionals and self-stigma. Cronbach’s alpha was 0.84 for the Factor 1; 0.81 for Factor 2; 0.74 for Factor 3, and 0.75 for Factor 4. Correlation matrix among factors revealed that most were in the moderate range [0.31-0.49], with the strongest occurring between perception of stigma in the informal network and self-stigma and there was also a weaker correlation between stigma from health professionals and self-stigma. Test-retest reliability was highest for informal networks [ICC 0.76 [0.67 -0.83]] and self-stigma [ICC 0.74 [0.64-0.81]]. There were no significant differences in the scoring due to sex or age. Service users in Argentina had the highest scores in almost all dimensions.Conclusions: The MARISTAN stigma scale is a reliable measure of the stigma of schizophrenia and related psychoses across several cultures. A confirmatory factor analysis is needed to assess the stability of its factor structure.We are also grateful for support from the Pan-American Health Office (PAHO), Camden and Islington NHS Foundation Trust and University College London (UCL)

    An Unexpected Function of the Prader-Willi Syndrome Imprinting Center in Maternal Imprinting in Mice

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    Genomic imprinting is a phenomenon that some genes are expressed differentially according to the parent of origin. Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurobehavioral disorders caused by deficiency of imprinted gene expression from paternal and maternal chromosome 15q11–q13, respectively. Imprinted genes at the PWS/AS domain are regulated through a bipartite imprinting center, the PWS-IC and AS-IC. The PWS-IC activates paternal-specific gene expression and is responsible for the paternal imprint, whereas the AS-IC functions in the maternal imprint by allele-specific repression of the PWS-IC to prevent the paternal imprinting program. Although mouse chromosome 7C has a conserved PWS/AS imprinted domain, the mouse equivalent of the human AS-IC element has not yet been identified. Here, we suggest another dimension that the PWS-IC also functions in maternal imprinting by negatively regulating the paternally expressed imprinted genes in mice, in contrast to its known function as a positive regulator for paternal-specific gene expression. Using a mouse model carrying a 4.8-kb deletion at the PWS-IC, we demonstrated that maternal transmission of the PWS-IC deletion resulted in a maternal imprinting defect with activation of the paternally expressed imprinted genes and decreased expression of the maternally expressed imprinted gene on the maternal chromosome, accompanied by alteration of the maternal epigenotype toward a paternal state spread over the PWS/AS domain. The functional significance of this acquired paternal pattern of gene expression was demonstrated by the ability to complement PWS phenotypes by maternal inheritance of the PWS-IC deletion, which is in stark contrast to paternal inheritance of the PWS-IC deletion that resulted in the PWS phenotypes. Importantly, low levels of expression of the paternally expressed imprinted genes are sufficient to rescue postnatal lethality and growth retardation in two PWS mouse models. These findings open the opportunity for a novel approach to the treatment of PWS
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