783 resultados para MATERNAL UNIPARENTAL DISOMY


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Ce travail porte sur l’identification, la fonction et la régulation des molécules maternelles d’ARNm qui dirigent la compétence développementale juste après la fécondation chez les bovins. Tout d’abord, en utilisant le modèle du temps écoulé jusqu’au premier clivage zygotique et à travers l’évaluation du transcriptome des embryons à 2-cellules, il fut possible de déterminer la signature moléculaire des niveaux extrêmes de compétence au développement et sélectionner des molécules candidates pour des études postérieures. Les résultats ont montré que les embryons de capacité développementale variable diffèrent dans certaines fonctions comme la réparation de l’ADN, le traitement de l’ARN, la synthèse de protéines et l’expression génique définies par des ARNm synthétisés par l’ovocyte. Pour obtenir une confirmation fonctionnelle, une paire de transcrits maternels (l’un détecté dans notre sondage précédent et l’autre étant une molécule reliée) ont été inhibés par « knock-down » dans des ovocytes. Les effets du knock-down de ces facteurs de transcription sont apparus avant la formation des blastocystes dû à une diminution de la capacité au clivage et celle à progresser après le stage de 8-cellules. L’analyse moléculaire des embryons knock-down survivants suggère qu’un de ces facteurs de transcription est un contrôleur crucial de l’activation du génome embryonnaire, qui représente une fenêtre développementale dans l’embryogenèse précoce. Dans la dernièr étude, nous avons testé si les facteurs de transcription d’intérêt sont modulés au niveau traductionnel. Des ARNm rapporteurs couplés à la GFP (Protéine fluorescente) contenant soit la version courte ou la version longue de la séquence 3’-UTR des deux molécules furent injectées dans des zygotes pour évaluer leur dynamique traductionnelle. Les résultats ont montré que les éléments cis-régulateurs localisés dans les 3’-UTRs contrôlent leur synchronisation traductionnelle et suggèrent une association entre la compétence développementale et la capacité de synthèse de ces protéines. Ceci conduit à l’idée que ces facteurs de transcription cruciaux sont aussi contrôlés au niveau traductionnel chez les embryons précoces. Les connaissances acquises ont joué un rôle essentiel pour définir le contrôle potentiel des molécules maternelles sur les embryons au début de leur développement. Cette étude nous montre aussi une utilisation potentielle de cette information ainsi que les nouveaux défis présents dans le secteur des technologies reproductives.

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Thesis (Master's)--University of Washington, 2016-08

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BACKGROUND: Rwanda has made remarkable progress in decreasing the number of maternal deaths, yet women still face morbidities and mortalities during pregnancy. We explored care-seeking and experiences of maternity care among women who suffered a near-miss event during either the early or late stage of pregnancy, and identified potential health system limitations or barriers to maternal survival in this setting. METHODS: A framework of Naturalistic Inquiry guided the study design and analysis, and the 'three delays' model facilitated data sorting. Participants included 47 women, who were interviewed at three hospitals in Kigali, and 14 of these were revisited in their homes, from March 2013 to April 2014. RESULTS: The women confronted various care-seeking barriers depending on whether the pregnancy was wanted, the gestational age, insurance coverage, and marital status. Poor communication between the women and healthcare providers seemed to result in inadequate or inappropriate treatment, leading some to seek either traditional medicine or care repeatedly at biomedical facilities. CONCLUSION: Improved service provision routines, information, and amendments to the insurance system are suggested to enhance prompt care-seeking. Additionally, we strongly recommend a health system that considers the needs of all pregnant women, especially those facing unintended pregnancies or complications in the early stages of pregnancy.

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This exploratory research study describes a child and adolescent psychotherapeutic clinical service offered to children/adolescents and their families with mothers with a life-threatening illness. The clinical service itself was also exploratory in nature. The research objectives of the study were (i) to explore whether this form of clinical work could be beneficial for such families in relieving distress and supporting their development; (ii) to discover the factors at play within and between the family members using an adaptation of Grounded Theory research methodology; and (iii) to add to the knowledge base for adults – family members and professionals – relating to, and dealing with, such children and adolescents. Descriptions and discussion of the therapeutic input and research study are given. Symptoms, which included emotional, behavioural, psychological, learning, and interpersonal difficulties, decreased in all the children/adolescents who were offered clinical treatment within an outpatient multidisciplinary Tier 3 Child and Adolescent Service (CAMHS). Six Themes were identified across the cases and these were named: Engagement, Parental Concern, Impact of Mother’s Illness, Defences, Sustaining Factors and Feeling Different. These Themes are discussed in the light of relevant published research. A literature review was undertaken and focuses on: epidemiological context; children’s understanding of death; impact of parental bereavement in childhood; the mourning process; anticipatory grief; psychoanalysis: mourning and trauma; children’s play and drawings as communication; and psychosocial therapeutic services. The thesis has particular relevance for child and adolescent psychotherapists and other mental health professionals who work within hospital and hospice settings.

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This exploratory research study describes a child and adolescent psychotherapeutic clinical service offered to children/adolescents and their families with mothers with a life-threatening illness. The clinical service itself was also exploratory in nature. The research objectives of the study were (i) to explore whether this form of clinical work could be beneficial for such families in relieving distress and supporting their development; (ii) to discover the factors at play within and between the family members using an adaptation of Grounded Theory research methodology; and (iii) to add to the knowledge base for adults – family members and professionals – relating to, and dealing with, such children and adolescents. Descriptions and discussion of the therapeutic input and research study are given. Symptoms, which included emotional, behavioural, psychological, learning, and interpersonal difficulties, decreased in all the children/adolescents who were offered clinical treatment within an outpatient multidisciplinary Tier 3 Child and Adolescent Service (CAMHS). Six Themes were identified across the cases and these were named: Engagement, Parental Concern, Impact of Mother’s Illness, Defences, Sustaining Factors and Feeling Different. These Themes are discussed in the light of relevant published research. A literature review was undertaken and focuses on: epidemiological context; children’s understanding of death; impact of parental bereavement in childhood; the mourning process; anticipatory grief; psychoanalysis: mourning and trauma; children’s play and drawings as communication; and psychosocial therapeutic services. The thesis has particular relevance for child and adolescent psychotherapists and other mental health professionals who work within hospital and hospice settings.

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Introduction: Due to the implied health benefits for mother and baby, breastfeeding has become a key public health issue. Literature reviewed highlighted the ‘medical’ and ‘natural’ mother discourse which surrounds motherhood and impacts on women’s decisions to breastfeed. Whilst the emotional and physical strains of a difficult experience have been explored, it is unclear how these experiences impact on women’s identities as mothers and in what ways women are able to narrate and share their embodied experiences. Methods: Seven first time mothers who described themselves as having had a difficult breastfeeding experience were interviewed to gather data pertaining to how mothers construct narratives of breastfeeding and the impact of these narratives on their identity as mothers. An interest in both socio-political discourse and embodiment theory derived from the literature review led to the use of visual methods in eliciting narratives and the employment of a critical narrative analysis in exploring the data gathered. Findings: The participants’ narratives drew from ‘medical’ and ‘natural’ mother discourses and were found to constrain subjective experience and leave participants with feelings of guilt, frustration and loss. A prevailing assumption that unruly, excessive bodies must be controlled by a rational ‘mind’ led to the body becoming a site for control and resistance for participants as they attempted to conform to norms of motherhood and breastfeeding. Discussion: Results identified the ways in which women as mothers can see their subjective experiences diminished and their voices silenced due to a lack of available discourse and entrenched ideologies surrounding the ‘good’ mother. It is suggested that adopting a social justice agenda within therapeutic practice might prevent the internalisation of oppressive discourse which can lead to mothers’ psychological distress. Moreover, it is suggested that exploring the body in therapy might resist a mind/body dualism and lead to increasingly compassionate and accepting relationships with our bodies; in turn increasing awareness of subjective experience.

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EMOND, Alan et al. The effectiveness of community-based interventions to improve maternal and infant health in the Northeast of Brazil. Revista Panamericana de Salud Pública/ Pan American Journal of Public Health , v.12, n.2, p.101-110, 2002

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The purpose of this study was to examine relationships between multiple characteristics of maternal employment, parenting practices, and adolescents’ transition outcomes to young adulthood. The research addressed four main research questions. First, are the characteristics of maternal work (i.e., hours worked, multiple jobs held, work schedules, earnings, and occupation) related to adolescents’ enrollment in post-secondary education, employment, or involvement in neither of these types of activities as young adults? Second, are the work characteristics related to parental involvement and monitoring, and are the parenting practices related to adolescents’ transition outcomes? Third, do parental involvement and monitoring mediate any relationships between the characteristics of maternal employment and adolescents’ transition outcomes? Finally, do any associations between characteristics of maternal employment and parenting practices and adolescents’ transition outcomes vary by poverty status, race/ethnicity, or gender? To address these research questions, secondary data analysis was conducted, using data from the National Longitudinal Survey of Youth (NLSY) from 1998 through 2004. The study sample consisted of 849 youths who were 15 through 17 years of age in either 1998 or 2000, and were 19 through 21 years of age when their transition outcomes in young adulthood were measured four years later. Multinomial logistic and ordinary least squares regression models were estimated to answer the research questions. Study findings indicated that of the maternal work characteristics, mothers’ multiple jobs held, occupation, and work schedule were significantly related to the youths’ transition outcomes. When mothers held multiple jobs for 1 to 25 weeks per year, and when mothers held jobs involving lower levels of occupational complexity, their youths were more likely to experience employment rather than post-secondary education. Adolescents whose mothers worked a standard work schedule were less likely to experience other types of transitions than post-secondary education. With regard to the effects of maternal employment on parenting practices, none of the maternal work variables were related to parental involvement, and only one variable, mothers working less than 40 hours per week, was negatively related to parental monitoring. In addition, when parents were more involved with their youths’ education, the youths were less likely to transition into employment and other types of transitions rather than post-secondary education. The parenting practices did not mediate the relation between the significant work variables (holding multiple jobs, work schedule, and occupation) and youths’ transition outcomes. Finally, none of the interactions between maternal work characteristics and poverty status, race/ethnicity, and gender met the criteria for determining significance; but in a series of sub-group analyses, some differences according to poverty status and gender were found. Despite the lack of mediation and moderation, the findings of this study have important implications for social policy and social work intervention. Based on the findings, suggestions are made in these areas to improve working mothers’ lives and their adolescents’ development and successful transition to adulthood. Finally, directions for future research are discussed.

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Retinitis pigmentosa 2 (RP2) gene is responsible for up to 20% of X-linked retinitis pigmentosa, a severe heterogeneous genetic disorder resulting in progressive retinal degeneration in humans. In vertebrates, several bodies of evidence have clearly established the role of Rp2 protein in cilia genesis and/or function. Unexpectedly, some observations in zebrafish have suggested the oocyte-predominant expression of the rp2 gene, a typical feature of maternal-effect genes. In the present study, we investigate the maternal inheritance of rp2 gene products in zebrafish eggs in order to address whether rp2 could be a novel maternal-effect gene required for normal development. Although both rp2 mRNA and corresponding protein are expressed during oogenesis, rp2 mRNA is maternally inherited, in contrast to Rp2 protein. A knockdown of the protein transcribed from both rp2 maternal and zygotic mRNA results in delayed epiboly and severe developmental defects, including eye malformations, that were not observed when only the protein from zygotic origin was knocked down. Moreover, the knockdown of maternal and zygotic Rp2 revealed a high incidence of left-right asymmetry establishment defects compared to only zygotic knockdown. Here we show that rp2 is a novel maternal-effect gene exclusively expressed in oocytes within the zebrafish ovary and demonstrate that maternal rp2 mRNA is essential for successful embryonic development and thus contributes to egg developmental competence. Our observations also reveal that Rp2 protein translated from maternal mRNA is important to allow normal heart loop formation, thus providing evidence of a direct maternal contribution to left-right asymmetry establishment.

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Blood flow assessment employing Doppler techniques is a useful procedure in pregnancy evaluation, as it may predict pregnancy disorders coursing with increased uterine vascular impedance, as pre-eclampsia. While the local causes are unknown, emphasis has been put on reactive oxygen species (ROS) excessive production. As NADPH oxidase (NOX) is a ROS generator, it is hypothesized that combining Doppler assessment with NOX activity might provide useful knowledge on placental bed disorders underlying mechanisms. A prospective longitudinal study was performed in 19 normal course, singleton pregnancies. Fetal aortic isthmus (AoI) and maternal uterine arteries (UtA) pulsatility index (PI) were recorded at two time points: 20-22 and 40-41 weeks, just before elective Cesarean section. In addition, placenta and placental bed biopsies were performed immediately after fetal extraction. NOX activity was evaluated using a dihydroethidium-based fluorescence method and associations to PI values were studied with Spearman correlations. A clustering of pregnancies coursing with higher and lower PI values was shown, which correlated strongly with placental bed NOX activity, but less consistently with placental tissue. The study provides evidence favoring that placental bed NOX activity parallels UtA PI enhancement and suggests that an excess in oxidation underlies the development of pregnancy disorders coursing with enhanced UtA impedance.

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Background: Common neurodevelopmental disorder, global prevalence ~1 %; Persistent deficits in social communication and social interaction; restricted and repetitive behavior, interests, or activities; Highly heterogeneous clinical presentation; Male to female ratio ~4:1.

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Objective: To investigate the maternal perception of the experience in the first phase of the Kangaroo Mother Care Method in the Neonatal Intensive Care Unit (NICU). Methods: Descriptive, exploratory and qualitative study, conducted in the period from August to October 2014, with 10 mothers of newborn preterm (NP) infants, who were admitted to the Maternity School Assis Chateaubriand (MEAC) in Fortaleza, Brazil, and had received skin-to-skin contact through the Kangaroo Care Method during hospitalization in the NICU. Data was collected by semi-structured interview, directed by guiding questions. Content analysis was used for processing the data, being established four categories: “The bond and the attachment”, “Maternal competence”, “The fear of losing the baby” and “The importance of the multidisciplinary team”. Results: The Kangaroo Care Method is a safe and pleasurable practice for mothers and relatives, in addition to providing social and psychoaffective benefits, found in the imagery of the method institutionalization and in the mothers’ experience when properly supported. The meanings of the maternal feelings of apprehension as a result of the first physical contact with the hospitalized child can be evidenced. Regarding the evaluation of its clinical practice, this method has provided better development of the newborn infant and a reduction in hospital stay. Conclusion: The study shows relevance, since the evidence of the maternal perception of this method supports its establishment as a mandatory practice in maternity hospitals, in view of the benefits to the mother and the neonate.