38 research outputs found

    Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia.

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    STUDY QUESTION What is the prevalence of infertility and ectopic pregnancies among individuals with primary ciliary dyskinesia (PCD)? SUMMARY ANSWER We found that 39 of 50 men (78%) and 72 of 118 women (61%) with PCD were infertile and that women with PCD had an increased risk of ectopic pregnancies (7.6 per 100 pregnancies, 95% CI 4.7-12.2). WHAT IS KNOWN ALREADY PCD is a heterogeneous multiorgan disease caused by mutations in genes required for the function and structure of motile cilia. Previous studies identified a link between PCD and infertility, but original data on prevalence of infertility and risk of ectopic pregnancies, the use and efficacy of medically assisted reproduction (MAR), and the association of fertility with PCD genotype are extremely limited. STUDY DESIGN SIZE DURATION We performed a cross-sectional survey about fertility within the Living with PCD study (formerly COVID-PCD). Living with PCD is an international, online, participatory study that collects information directly from people with PCD. People with PCD of any age from anywhere in the world can participate in the study. At the time of the survey, 482 adults with PCD were registered within the Living with PCD study. PARTICIPANTS/MATERIALS SETTING METHODS We sent a questionnaire on fertility on 12 July 2022, to all participants older than 18 years enrolled in the Living with PCD study. Responses were collected until 8 March 2023. The fertility questionnaire covered topics related to pregnancy attempts, use of MAR, and pregnancy outcomes. Data were collected via the Research Electronic Data Capture (REDCap) platform. We defined infertility as failure to achieve a clinical pregnancy after 12 months or use of MAR for at least one pregnancy. MAIN RESULTS AND THE ROLE OF CHANCE In total, 265 of 482 adult participants (55%) completed the fertility questionnaire. Among 168 adults who had tried to conceive, 39 of 50 men (78%) and 72 of 118 women (61%) were infertile. Of the infertile men, 28 had tried MAR, and 17 of them (61%) fathered a child with the help of MAR. Among infertile women, 59 had used MAR, and 41 of them (69%) became pregnant with the help of MAR. In our population, women with PCD showed a relatively high risk of ectopic pregnancies: 1 in 10 women who became pregnant had at least one ectopic pregnancy and 7.6% of pregnancies were ectopic (95% CI 4.7-12.2). We evaluated the association between fertility and affected PCD genes in 46 individuals (11 men, 35 women) with available genetic and fertility information, and found differences between genotypes, e.g. all five women with a mutation in CCDC40 were infertile and all five with DNAH11 were fertile. LIMITATIONS REASONS FOR CAUTION The study has limitations, including potential selection bias as people experiencing problems with fertility might be more likely to fill in the questionnaire, which may have influenced our prevalence estimates. We were unable to validate clinical data obtained from participant self-reports owing to the anonymous study design, which is likely to lead to recall bias. WIDER IMPLICATIONS OF THE FINDINGS The study underlines the need for addressing infertility in routine PCD care, with a focus on informing individuals with PCD about their increased risk. It emphasizes the utility and efficacy of MAR in PCD-related infertility. Additionally, women attempting conception should be made aware of the increased risk of ectopic pregnancies and seek systematic early consultation to confirm an intrauterine pregnancy. Fertility, efficacy of MAR, and risk for adverse pregnancy outcomes differ between people with PCD-depending on genotypes-and close monitoring and support might be needed from fertility specialists to increase chances of successful conception. STUDY FUNDING/COMPETING INTERESTS Our research was funded by the Swiss National Science Foundation, Switzerland (SNSF 320030B_192804), the Swiss Lung Association, Switzerland (2021-08_Pedersen), and we also received support from the PCD Foundation, USA; the Verein Kartagener Syndrom und Primäre Ciliäre Dyskinesie, Germany; the PCD Support UK, UK; and PCD Australia, Australia. M. Goutaki received funding from the Swiss National Science Foundation, Switzerland (PZ00P3_185923). B. Maitre participates in the RaDiCo-DCP funded by INSERM France. The study authors participate in the BEAT-PCD Clinical Research Collaboration supported by the European Respiratory Society. All authors declare no conflict of interest. TRIAL REGISTRATION NUMBER ClinicalTrials.gov ID NCT04602481

    Overexpression of copper zinc superoxide dismutase impairs human trophoblast cell fusion and differentiation.: SOD-1 and Human Trophoblast Differentiation

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    The syncytiotrophoblast is the major component of the human placenta, involved in feto-maternal exchanges and secretion of pregnancy-specific hormones. Multinucleated syncytiotrophoblast arises from fusion of mononuclear cytotrophoblast cells. In trisomy 21-affected placentas, we recently have shown that there is a defect in syncytiotrophoblast formation and a decrease in the production of pregnancy-specific hormones. Due to the role of oxygen free radicals in trophoblast cell differentiation, we investigated the role of the key antioxidant enzyme, copper/zinc superoxide dismutase, encoded by chromosome 21 in in vitro trophoblast differentiation. We first observed that overexpression of superoxide dismutase in normal cytotrophoblasts impaired syncytiotrophoblast formation. This was associated with a significant decrease in mRNA transcript levels and secretion of hCG and other hormonal markers of syncytiotrophoblast. We confirmed abnormal cell fusion by overexpression of green fluorescence protein-tagged superoxide dismutase in cytotrophoblasts. In addition, a significant decrease in syncytin transcript levels was observed in superoxide dismutase-transfected cells. We then examined superoxide dismutase expression and activity in isolated trophoblast cells from trisomy 21-affected placentas. Superoxide dismutase mRNA expression (P < 0.05), protein levels (P < 0.01), and activity (P < 0.05) were significantly higher in trophoblast cells isolated from trisomy 21-affected placentas than in those from normal placentas. These results suggest that superoxide dismutase overexpression may directly impair trophoblast cell differentiation and fusion, and superoxide dismutase overexpression in Down's syndrome may be responsible at least in part for the failure of syncytiotrophoblast formation observed in trisomy 21-affected placentas

    STIMULATION OVARIENNE CHEZ DES FEMMES INFERTILES N'AYANT QU'UNE SEULE TROMPE SAINE

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    PARIS-BIUM (751062103) / SudocCentre Technique Livre Ens. Sup. (774682301) / SudocSudocFranceF

    Comment aider les couples à mieux concevoir ?

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    PARIS7-Xavier Bichat (751182101) / SudocSudocFranceF

    Performance measurement of professors at two European universities : A study at the IECS Ecole de Management de Strasbourg in France and the Europa-

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    Background: In a context of belt-tightening policy and of increasing competition between universities in France and in Germany, universities and therefore professors are required to increase their efficiency and to provide evidence of it. Performance measurement systems are assumed to increase transparency and incentives within the university sector. Purpose: The purpose of this thesis is to analyze to which extent performance measurement of professors at one French and one German university is relevant and how this performance can be measured. The study is conducted at the business school l’IECS Ecole de Management de Strasbourg (France) and within the Faculty of Business &amp; Economics at the Europa-Universität Viadrina in Frankfurt an der Oder (Germany). Method: Performance measurement is considered through the study and the comparison of two universities. Based on a theoretical framework including theories from the private sector, the public sector and the university sector, several in-depth interviews are conducted to collect facts and opinions from both professors and administrators and from both the IECS and the Viadrina. Conclusion: This study assesses the relevance of the measurement performance of professors at the IECS and the Viadrina. It provides also the main areas where professors’ performance should be measured and the main methods to measure this performance. Lastly the thesis raises several issues linked to performance measurement such as the organizational culture of universities, the utilisation of performance measurement system information and the impacts of performance measurement

    Impact des programmes de physique au lycée sur la première année d’enseignement supérieur

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    Suite au changement des programmes de physique au lycée, la commission enseignement de la Société Française de Physique (SFP) a mené en 2014 une enquête auprès des enseignants du supérieur. Malgré un comportement plus actif des étudiants, les collègues ont constaté des difficultés à résoudre des problèmes de physique. Ceci est dû à un manque de rigueur dans le raisonnement et au fait que nombre de concepts ne sont pas maîtrisés. L’absence de liens entre physique et mathématiques dans les programmes ne fait que renforcer ces tendances. Malgré un élargissement de leur culture scientifique, les connaissances des étudiants sont très cloisonnées et non consolidées
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