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showing 10 items of 2973 documents

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

2013

International audience; BACKGROUND:The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened for CF has created a dilemma.METHODS:Phenotypic and genotypic data were retrospectively collected in 179 non-newborn French individuals carrying p.Arg117His and a second CFTR mutation referred for symptoms or family history, by all French molecular genetics laboratories, referring physicians, CF care centres and infertility clinics.RESULTS:97% of the patients had the intronic T7 normal variant in cis with p.Arg117His. 89% patients were male, wit…

InfertilityMalemedicine.medical_specialtyHeterozygoteCystic FibrosisOffspring[SDV]Life Sciences [q-bio]Cystic Fibrosis Transmembrane Conductance RegulatorGene mutationCompound heterozygosityAsymptomaticCystic fibrosis03 medical and health sciences0302 clinical medicineVas DeferensMale Urogenital DiseasesMutation RateInternal medicinePrenatal DiagnosisGenotypeGeneticsmedicineHumansFamily historyChildSweatGenetics (clinical)Infertility Male030304 developmental biology0303 health sciencesbusiness.industryInfant NewbornInfantmedicine.disease3. Good healthPhenotype030228 respiratory systemChild PreschoolImmunologyMutationFemalemedicine.symptombusiness
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Gestational surrogacy: Psychosocial aspects

2016

ABSTRACT Innovation in assisted reproductive technologies together with increased infertility and new family structures are increasing the use of gestational surrogacy as a means to have children. Before, during and after the process, it is necessary to study the psychosocial characteristics of triad members: the gestational surrogate, intended parents, and offspring. Research has indicated positive adaptation to the process and benefits for all members of the triad. Altruism is the main motivation of surrogates. Notably, psychological well-being has been found to be higher in individuals who have become parents through surrogacy than in those who have used egg donation or have followed a n…

InfertilitySocial PsychologyOffspringmedia_common.quotation_subjectlcsh:BF1-990Reproductive technologyAutoeficaciaAltruismSubrogaciónDevelopmental psychology03 medical and health sciencesEgg donationTriad (sociology)Offspring0302 clinical medicinePadres de intenciónDevelopmental and Educational Psychologymedicine030212 general & internal medicineApplied Psychologymedia_commonIntended parents030219 obstetrics & reproductive medicinemedicine.diseaseDescendenciaAltruismlcsh:PsychologyGestationEmpathyPsychologySurrogacySelf-efficacyPsychosocialEmpatíaAltruismoPsychosocial Intervention
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Reproductive medicine and inheritance of infertility by offspring: the role of fetal programming.

2011

Objective To summarize the molecular processes involved in fetal programming, to describe how assisted reproduction technologies (ART) may affect the epigenetic pattern of the embryo, and to highlight the current knowledge of the role of perinatal events in the subsequent development of reproductive pathology affecting infertile patients. Design A literature review of fetal programming of adulthood gynecologic diseases and ART. A Medline search was performed with the following keywords: (fetal programming OR epigenetics OR methylation OR acetylation) AND (IVF OR ART) AND (gynecology). Articles up to October 2010 were selected. Articles and recent reviews were classified by human and animals…

Infertilitymedicine.medical_specialtyOffspringPopulationMEDLINEReproductive medicineBioinformaticsEpigenesis GeneticPregnancymedicineHumansEpigeneticseducationGynecologyeducation.field_of_studyFetusbusiness.industryObstetrics and GynecologyDNA Methylationmedicine.diseaseReproductive MedicinePrenatal Exposure Delayed EffectsObservational studyFemalebusinessGenital Diseases FemaleInfertility FemaleFertility and sterility
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Postovulatory Aging of Oocytes Decreases Reproductive Fitness and Longevity of Offspring1

2002

We analyzed the long-term effects of postovulatory aging of mouse oocytes on reproductive fitness and longevity of offspring. Hybrid (C57BL/6JIco 3 CBA/JIco) parental generation (F0) females were artificially inseminated at 13 h (;1 h postovulation) or 22 h (;10 h postovulation) after GnRH injection. Reproductive fitness of first generation (F1) females was tested from the age of 28 wk until the end of their reproductive life. In males, the testing period ranged from the age of 2 yr until their natural death. Experimental F1 females exhibited longer between-labor intervals, decreased frequency of litters, and lower total number of litters and offspring born. Experimental second generation (…

Infertilitymedicine.medical_specialtyReproductive successOffspringmedia_common.quotation_subjectLongevityCell BiologyGeneral MedicineBiologymedicine.diseaseAndrologyEndocrinologyHuman fertilizationReproductive MedicineInternal medicinemedicineOviductWeaningOvulationmedia_commonBiology of Reproduction
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A comparison between the single ring pressure infiltrometer and simplified falling head techniques

2013

Testing the relative performances of the single ring pressure infiltrometer (PI) and simplified falling head (SFH) techniques to determine the field saturated soil hydraulic conductivity, Kfs, at the near point scale may help to better establish the usability of these techniques for interpreting and simulating hydrological processes. A sampling of 10 Sicilian sites showed that the measured Kfs was generally higher with the SFH technique than the PI one, with statistically significant differences by a factor varying from 3 to 192, depending on the site. A short experiment with the SFH technique yielded higher Kfs values because a longer experiment with the PI probably promoted short-term swe…

Infiltration (hydrology)Soil structureHydraulic conductivitySoil waterEnvironmental scienceGeotechnical engineeringInfiltrometerSoil scienceWettingPorous mediumSurface runoffWater Science and TechnologyHydrological Processes
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Costs and benefits of inflammation in host-parasite relationships

2016

Host-parasite interactions are characterized by trade-offs that involve both plastic and microevolutionary responses. On one hand, while immunity is essential to fight parasites, it can also cause damage to the host, leading to autoimmunity and inflammatory diseases. On the other hand, parasites have to cope with the immune environnement provided by the host. This raises the question of the costs and benefits of the inflammatory response for the two partners of the interaction. With different experimental and literature-based approaches, I showed that immunopathology is a trait that likely persists because of the immediate benefits of the immune response in terms of protection against paras…

InflammationMus musculus domesticus[SDV.IMM] Life Sciences [q-bio]/ImmunologyPlasticitySélectionTrade-offHeligmosomoides polygyrus[SDV.EE.IEO] Life Sciences [q-bio]/Ecology environment/SymbiosisLife history traitsPlasmodium yoeliiTraits d’histoire de vieImmunomodulationPlasticité[ SDV.MP ] Life Sciences [q-bio]/Microbiology and Parasitology[ SDV.EE.IEO ] Life Sciences [q-bio]/Ecology environment/Symbiosis[ SDV.IMM ] Life Sciences [q-bio]/Immunology[SDV.MP] Life Sciences [q-bio]/Microbiology and ParasitologyCompromis
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Does Inflation Targeting Affect the Trade-off Between Output Gap and Inflation Variability?

2002

We utilize a stochastic volatility model to analyse the possible effects of inflation targeting on the trade–off between output gap variability and inflation variability. We find that the adoption of inflation targets (in New Zealand, Australia, Canada, the UK, Sweden and Finland) might result in a more favourable monetary policy trade–off (except in Australia and Finland). This conclusion is reached by comparing, first, the economic performance of targeting countries in the 1980s and the 1990s; and second, the economic performance in the 1990s of targeting and non–targeting countries (the USA, Japan, Switzerland, Germany, France and the Netherlands). We focus on two possible explanations f…

InflationEconomics and EconometricsStochastic volatilityInflation targetingTransparency (market)media_common.quotation_subjectMonetary policyMonetary economicsTrade-offAffect (psychology)policy frontierstochastic volatility; state space model; policy frontierstate space modelOutput gapEconomicsstochastic volatilitymedia_common
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Criminal DNA databases: the European situation

2001

In the last 5 years, a number of European countries have successfully introduced national databases holding the DNA profiles from suspected and convicted criminal offenders as well as from biological stain materials from unsolved crime cases. At present, DNA databases are fully or partially in operation in the UK, The Netherlands, Austria, Germany, Finland, Norway, Denmark, Switzerland and Sweden. Furthermore, in the other European countries, specific legislation will be enacted soon, or the introduction of such databases is being discussed to initiate a legislative process. Numerous differences exist regarding the criteria for a criminal offender to be included in the database, the storage…

Information ServicesDatabases FactualDatabaseInternational CooperationMEDLINEInformation Storage and RetrievalLegislationHarmonizationcomputer.software_genreLegislative processDNA FingerprintingPolymerase Chain ReactionPathology and Forensic MedicineEuropeCriminal offenderExchange of informationLawHumansEuropean standardDatabase search engineCrimeSociologyLawcomputerConfidentialityForensic Science International
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Optimizing the level of service quality of a bike-sharing system

2016

Public bike-sharing programs have been deployed in hundreds of cities worldwide, improving mobility in a socially equitable and environmentally sustainable way. However, the quality of the service is drastically affected by imbalances in the distribution of bicycles among stations. We address this problem in two stages. First, we estimate the unsatisfied demand (lack of free lockers or lack of bicycles) at each station for a given time period in the future and for each possible number of bicycles at the beginning of the period. In a second stage, we use these estimates to guide our redistribution algorithms. Computational results using real data from the bike-sharing system in Palma de Mall…

Information Systems and ManagementOperations researchStrategy and Managementmedia_common.quotation_subject0211 other engineering and technologiesDistribution (economics)02 engineering and technologyManagement Science and Operations Researchhttp://aims.fao.org/aos/agrovoc/c_63329Transport engineeringhttp://aims.fao.org/aos/agrovoc/c_3041http://aims.fao.org/aos/agrovoc/c_7524http://aims.fao.org/aos/agrovoc/c_353320502 economics and businessserviceQuality (business)media_common050210 logistics & transportation021103 operations researchU10 - Informatique mathématiques et statistiquesLevel of servicebusiness.industry05 social sciencesRedistribution (cultural anthropology)Demand forecastingtechnique de prévisionhttp://aims.fao.org/aos/agrovoc/c_9000074BicyclettesOffre et demandehttp://aims.fao.org/aos/agrovoc/c_dda00d10Développement durableService (economics)http://aims.fao.org/aos/agrovoc/c_6989http://aims.fao.org/aos/agrovoc/c_7273Bike sharingapproches communautairesBusinessHeuristicsOmega
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Improving performance and fostering accountability in the public sector through system dynamics modelling: From an ‘external’ to an ‘internal’ perspe…

2010

This paper aims to outline the benefits justifying a tailored approach to System Dynamics (SD) modelling in the public sector, to improve performance and foster decision makers' accountability. The need of combining an ‘internal’ with an ‘external’ perspective (in respect to decision makers) in developing SD models is claimed. Different levels of intervention (i.e. macro, micro and meso) are discussed. Two case studies are analysed. The first one demonstrates how a dynamic resource-based view (DRBV) can support an analysis of the impact of back and front office units on a public sector organization's performance drivers. The second case shows how SD modelling based on a DRBV can also be app…

Information Systems and ManagementProcess managementperformance accountability system dynamics public sectorManagement sciencebusiness.industryPerformancePublic sectorStrategy and ManagementPerspective (graphical)Public sectorGeneral Social SciencesSystem dynamicSystem dynamicsFront officePoliticsIntervention (law)AccountabilityEconomicsAccountabilityMacrobusinessSystems Research and Behavioral Science
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