0000000000530916

AUTHOR

Pilar Buendía

showing 5 related works from this author

FISH screening of aneuploidies in preimplantation embryos to improve IVF outcome

2005

Preimplantation genetic diagnosis (PGD) has transformed the approach to the infertility patient in the IVF setting. Although the principal applications of PGD have been to prevent the transmission of sex-linked diseases, in time and with growing knowledge of the chromosomal abnormalities observed in preimplantation embryos, its applications have widened. Nowadays, apart from its implications in the prevention of transmission of chromosomal and genetic abnormalities, PGD is being used with increased frequency to improve the IVF outcome in patients with advanced maternal age (or =38 years of age), recurrent miscarriage (or =2 miscarriages), recurrent IVF failure (or =3 failed IVF attempts) an…

AdultMaleInfertilityAbortion Habitualmedicine.medical_specialtyTime FactorsBiopsyAneuploidyFertilization in VitroBiologyAbortionPreimplantation genetic diagnosisChromosomesMale infertilityPregnancyRecurrent miscarriagemedicineHumansAdvanced maternal ageIn Situ Hybridization FluorescenceInfertility MaleChromosome AberrationsGynecologyPregnancyObstetricsPregnancy OutcomeObstetrics and GynecologyMiddle AgedAneuploidyEmbryo Mammalianmedicine.diseaseBlastocystTreatment OutcomeReproductive MedicineInfertilityFemaleInfertility FemaleMaternal AgeDevelopmental BiologyReproductive BioMedicine Online
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False positive rate of an arrayCGH platform for single-cell preimplantation genetic screening and subsequent clinical application on day-3

2013

In this work, false positive rate of an arrayCGH platform for its use in day-3 single-blastomere analysis was calculated. For this purpose, 38 embryos diagnosed as abnormal on day-3 by FISH were re-biopsied on day-4. Single-cell day-4 arrayCGH diagnosis was then performed. A successful amplification was obtained in 97.4 % (37/38) of the day-4 cells analysed by arrayCGH. Day-3 FISH and day-4 arrayCGH diagnosis were concordant in 35/37 cases. The two discordant embryos were spread and all the cells from each embryo were re-analysed by FISH on day 5. The same error rate (2.7 %) for day-3 FISH and day-4 arrayCGH was obtained when comparing day-5 FISH re-analysis. After this pre-clinical phase, …

AdultBlastomeresmedicine.medical_specialtyTime FactorsPregnancy RateBiopsyConcordanceClinical pregnancyBiologySensitivity and SpecificityMiscarriagePregnancyarrayCGHDay-5 FISH re-analysisGeneticsmedicineChromosomes HumanHumansFalse Positive ReactionsEmbryo ImplantationGenetic TestingProspective StudiesIn Situ Hybridization FluorescenceGenetics (clinical)CryopreservationGynecologyComparative Genomic HybridizationReproducibility of ResultsObstetrics and GynecologyGeneral MedicineAneuploidyEmbryo Transfermedicine.diseaseBlastocystReproductive MedicineBlastomere biopsyBlastomere biopsyFish <Actinopterygii>Day-3 PGSFemaleFalse positive rateDevelopmental Biology
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Impact of chromosomal abnormalities on preimplantation embryo development.

2007

Objectives To evaluate the influence of numerical chromosomal abnormalities on preimplantation embryo development. Methods This study includes 6936 embryos from 1245 women undergoing preimplantation genetic diagnosis (PGD). Indications for aneuploidy screening were: recurrent miscarriages, implantation failure, severe male factor, advanced maternal age, and mixed causes. Embryo biopsy was performed on day 3, and embryos were co-cultured until day 5, when embryo transfer was performed. Results In the aneuploidy screening regimen, normal euploid embryos showed significantly higher blastocyst rates (68.2%) compared to chromosomally abnormal (42.8%, p < 0.0001) and mosaic (53.7%, p < 0.0001) em…

Adultmedicine.medical_specialtyMonosomyanimal structuresAneuploidyEmbryonic DevelopmentTrisomyFertilization in VitroBiologyPreimplantation genetic diagnosisPregnancyCulture TechniquesmedicineHumansBlastocystAdvanced maternal ageEmbryo ImplantationGenetic TestingGenetics (clinical)In Situ Hybridization FluorescencePreimplantation DiagnosisGynecologyChromosomes Human XMosaicismObstetrics and GynecologyEmbryomedicine.diseaseAneuploidyEmbryo transfermedicine.anatomical_structureBlastocystembryonic structuresFemaleTrisomyMaternal AgePrenatal diagnosis
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Vulnerability of peripheral catecholaminergic neurons to MPTP is not regulated by alpha-synuclein.

2010

Although generally considered a prototypical movement disorder, Parkinson's disease is commonly associated with a broad-spectrum of non-motor symptoms, including autonomic dysfunctions caused by significant alterations in catecholaminergic neurons of the peripheral sympathetic nervous system. Here we present evidence that alpha-synuclein is highly expressed by sympathetic ganglion neurons throughout embryonic and postnatal life and that it is found in tyrosine hydroxylase-positive sympathetic fibers innervating the heart of adult mice. However, mice deficient in alpha-synuclein do not exhibit any apparent alterations in sympathetic development. Sympathetic neurons isolated from mouse embryo…

Sympathetic nervous system1-Methyl-4-phenylpyridiniumα-Synuclein knockoutTyrosine 3-MonooxygenaseNeurotoxinsNeurotrophic factorSubstantia nigraBiologylcsh:RC321-571chemistry.chemical_compoundMiceCatecholaminesSympathetic Fibers PostganglionicParkinsonian DisordersNeurotrophic factorsmedicineNeurotoxinAutonomic gangliaAnimalslcsh:Neurosciences. Biological psychiatry. NeuropsychiatryCells CulturedNeuronsGanglia SympatheticCell DeathMPTPSympathetic ganglionMice Mutant Strainsnervous system diseasesMPP+medicine.anatomical_structureNeurologychemistrynervous system1-Methyl-4-phenyl-1236-tetrahydropyridinePeripheral nervous systemSympathetic nervous systemNerve Degenerationalpha-SynucleinCatecholaminergic cell groupsPeripheral nervous systemNeuroscienceNeurobiology of disease
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Prosurvival effect of human wild-type alpha-synuclein on MPTP-induced toxicity to central but not peripheral catecholaminergic neurons isolated from …

2010

In the present work we report the generation of a new line of alpha-synuclein (alpha-SYN) transgenic mice in which the human wild-type alpha-SYN cDNA is expressed under the control of a tyrosine hydroxylase (TH) promoter. We provide evidence that the ectopic protein is found in TH expressing neurons of both central and peripheral nervous systems. The transgene is expressed very early in development coinciding with the activity of the TH promoter and in the adult brain the human protein distributes normally to the nerve endings and cell bodies of dopaminergic nigral neurons without any evidence of abnormal aggregation. Our results indicate that expression of human wild-type alpha-SYN does no…

medicine.medical_specialtySympathetic Nervous SystemTyrosine 3-MonooxygenaseTransgeneMice Transgenicchemistry.chemical_compoundMiceCatecholaminesDopamineMesencephalonInternal medicinemedicineNeurotoxinAnimalsHumansTransgenesPromoter Regions GeneticCells CulturedDopamine transporterNeuronsDopamine Plasma Membrane Transport ProteinsTyrosine hydroxylasebiologyCell DeathGeneral NeuroscienceMPTPDopaminergicBrainEndocrinologynervous systemchemistry1-Methyl-4-phenyl-1236-tetrahydropyridineOrgan Specificitybiology.proteinalpha-SynucleinCatecholaminergic cell groupsmedicine.drugNeuroscience
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