Search results for "Nancy"

showing 10 items of 2268 documents

Type of chromosome abnormality affects embryo morphology dynamics.

2016

Objective To study the differences in the cleavage time between types of embryo chromosomal abnormalities and elaborate algorithm to exclude aneuploid embryos according to the likelihood to be euploid. Design Retrospective cohort study. Setting University affiliated private center. Patient(s) Preimplantational genetic screening patients (n = 112) including cases of advanced maternal age, repeated implantation failure, and recurrent miscarriage. A total of 485 embryos were analyzed. Intervention(s) None. Main Outcome Measure(s) All biopsied embryos were cultured in an incubator with time-lapse technology, cleavage timing from insemination to day 3 and all kinetic parameters that have been de…

0301 basic medicineAdultBiopsyAneuploidyEmbryonic DevelopmentChromosome DisordersFertilization in VitroBiologyTime-Lapse ImagingAndrology03 medical and health sciences0302 clinical medicinePredictive Value of TestsPregnancyRisk FactorsRecurrent miscarriagemedicineOdds RatioChromosomes HumanHumansAdvanced maternal ageGenetic TestingPreimplantation DiagnosisRetrospective StudiesGeneticsChromosome AberrationsComparative Genomic Hybridization030219 obstetrics & reproductive medicineMicroscopy VideoObstetrics and GynecologyRetrospective cohort studyEmbryoOdds ratiomedicine.diseaseAneuploidyConfidence intervalKinetics030104 developmental biologyBlastocystLogistic ModelsReproductive Medicineembryonic structuresChromosome abnormalityFemaleFertility and sterility
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Effect of oocyte morphology on post-warming survival and embryo development in vitrified autologous oocytes.

2019

Abstract Research question Does the presence of dysmorphisms affect post-warming survival and embryo development in vitrified autologous oocytes? Design A retrospective study comparing post-warming survival, fertilization and embryo development between morphologically normal (n = 269) and dysmorphic oocytes (n = 147). Results The survival rate was 81.4% in the morphologically normal oocytes and 87.1% in the dysmorphic oocyte group (OR 1.53; 95% CI 0.86 to 2.72). The fertilization rate was 69.9 versus 66.4% (OR 0.85; 95% CI 0.53 to 1.36), the proportion of good-quality embryos on day 3 was 30.3% versus 32.0% (OR 1.08; 95% CI 0.59 to 1.97) and the blastocyst formation rate was 54.5% versus 60…

0301 basic medicineAdultCell SurvivalEmbryonic DevelopmentBiologyAndrologyEmbryo Culture Techniques03 medical and health sciences0302 clinical medicineHuman fertilizationOvulation InductionPregnancymedicineHumansBlastocystFormation rateSurvival rateRetrospective StudiesCryopreservation030219 obstetrics & reproductive medicineEmbryogenesisObstetrics and GynecologyEmbryoOocyteEmbryo TransferVitrification030104 developmental biologymedicine.anatomical_structureReproductive MedicineOocytesFemaleDevelopmental BiologyReproductive biomedicine online
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Serum Lycopene Concentrations and Associations with Clinical Outcomes in a Cohort of Maternal-Infant Dyads.

2018

Oxidative stress has been associated with adverse neonatal outcomes, and many carotenoids, including lycopene, potentially have antioxidant properties. The objective of this analysis was to explore the associations between serum lycopene concentrations, including lycopene isomers, and maternal-newborn outcomes. Maternal and cord blood samples were collected in 180 mother-infant pairs. Serum of total lycopene as well as the cis- and trans-isomers concentrations were measured using HPLC (High Performance Liquid Chromatography). Descriptive statistics were calculated; Spearman coefficients were used to assess correlations between maternal and cord concentrations. The relationship between lycop…

0301 basic medicineAdultCordBirth weightPhysiologyMotherslcsh:TX341-641AntioxidantsArticlelaw.inventionCohort Studies03 medical and health scienceschemistry.chemical_compoundYoung Adult0302 clinical medicinelawPregnancyIntensive Care Units Neonatalcarotenoid; lycopene; pregnancy; neonatal growthmedicineBirth WeightHumansPregnancyRespiratory Distress Syndrome Newborn030219 obstetrics & reproductive medicine030109 nutrition & dieteticsNutrition and DieteticsRespiratory distressbusiness.industryInfant NewbornInfantmedicine.diseaseFetal BloodlycopeneIntensive care unitCarotenoidsLycopenecarotenoid3. Good healthDietOxidative Stresschemistryneonatal growthCord bloodCohortFemalebusinesslcsh:Nutrition. Foods and food supplyFood ScienceNutrients
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Transcriptomic behavior of genes associated with chromosome 21 aneuploidies in early embryo development.

2019

To analyze how chromosome 21 (HSA21) ploidy affects global gene expression of early human blastocysts.Prospective study.University-affiliated in vitro fertilization clinic.A total of 26 high-quality donated embryos from in vitro fertilization (IVF) patients: trisomy 21 (n = 8), monosomy 21 (n = 10), and euploid (n = 8) blastocysts.None.Blastocyst transcriptome changes and its associated functions.Trisomy 21, monosomy 21, and euploid blastocysts were classified by comparative genomic hybridization. The global transcriptome of whole blastocysts was analyzed with small cell number RNA sequencing, and they were compared to understand the gene expression behavior at early development and its imp…

0301 basic medicineAdultDown syndromeReproductive Techniques AssistedChromosomes Human Pair 21Embryonic DevelopmentBiologyTranscriptomeAndrologyEmbryo Culture Techniques03 medical and health sciences0302 clinical medicineMonosomyPregnancymedicineHumansBlastocystProspective StudiesGenetic Association Studies030219 obstetrics & reproductive medicineObstetrics and GynecologyEmbryomedicine.diseaseAneuploidy030104 developmental biologymedicine.anatomical_structureReproductive Medicineembryonic structuresFemalePloidyTrisomyChromosome 21TranscriptomeComparative genomic hybridizationFertility and sterility
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Dysregulated genes and their functional pathways in luteinized granulosa cells from PCOS patients after cabergoline treatment

2018

Polycystic ovarian syndrome (PCOS) is a common reproductive disorder frequently associated with a substantial risk factor for ovarian hyperstimulation syndrome (OHSS). Dopamine receptor 2 (D2) agonists, like cabergoline (Cb2), have been used to reduce the OHSS risk. However, lutein granulosa cells (LGCs) from PCOS patients treated with Cb2 still show a deregulated dopaminergic tone (decreased D2 expression and low dopamine production) and increased vascularization compared to non-PCOS LGCs. Therefore, to understand the PCOS ovarian physiology, it is important to explore the mechanisms that underlie syndrome based on the therapeutic effects of Cb2. Here, LGCs from non-PCOS and PCOS patients …

0301 basic medicineAdultEmbryologymedicine.medical_specialtyendocrine systemCabergolineendocrine system diseasesOvarian hyperstimulation syndromeAKT103 medical and health scienceschemistry.chemical_compound0302 clinical medicineEndocrinologyInternal medicineCabergolineLuteal CellsmedicineHumansErgolines030219 obstetrics & reproductive medicineGranulosa Cellsbusiness.industryDopaminergicOvaryObstetrics and Gynecologynutritional and metabolic diseasesCell Biologymedicine.diseasefemale genital diseases and pregnancy complicationsVascular endothelial growth factorVascular endothelial growth factor A030104 developmental biologyEndocrinologyReproductive MedicinechemistryGene Expression RegulationDopamine receptorDopaminergic synapseCase-Control StudiesDopamine AgonistsFemalebusinessTranscriptomeBiomarkersmedicine.drugPolycystic Ovary Syndrome
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What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs

2020

Abstract Background Syndromic congenital heart disease accounts for 30% of cases and can be determined by genetic, environmental or multifactorial causes. In many cases the etiology remains uncertain. Many known genes are responsible for specific morphopathogenetic mechanisms during the development of the heart whose alteration can determine specific phenotypes of cardiac malformations. Case presentation We report on two cases of association of conotruncal heart defect with facial dysmorphisms in sibs. In both cases the malformations’ identification occurred by ultrasound in the prenatal period. It was followed by prenatal invasive diagnosis. The genetic analysis revealed no rearrangements …

0301 basic medicineAdultHeart Defects CongenitalMaleHeart diseaseFacial dysmorphismCase ReportGenetic analysisFacial dysmorphismsCongenital heart diseases030218 nuclear medicine & medical imagingConotruncal heart defectsMED1203 medical and health sciences0302 clinical medicinePregnancyNext generation sequencingPrenatal DiagnosismedicineHumansGenetic TestingGeneX chromosomeConotruncal heart defectsCongenital heart diseaseGeneticsMediator Complexbusiness.industrylcsh:RJ1-570lcsh:Pediatricsmedicine.diseasePhenotypeMED12Fetal Diseases030104 developmental biologyConotruncal heart defectEchocardiographyEtiologyFemalebusinessItalian Journal of Pediatrics
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Cancer patterns in Karachi (all districts), Pakistan: First results (2010-2015) from a Pathology based cancer registry of the largest government-run …

2016

National level population-based cancer data have never been published from Pakistan in seven decades since independence (1947). Therefore, generation of high-quality regional data becomes highly relevant. Cancer data for the period of 2010-2015 representing the population from all districts of Karachi (14.6 million) are presented herein. After institutional approval (Ref no. IRB-459/DUHS/-14), a Pathology based cancer registry was established at the largest government-run diagnostic and reference center of Karachi. During 2010-2015, a total of 13,508 cancers (including 686 non-melanoma-skin-cancers (NMSC)) were diagnosed. Of these, 5665 (41.9%) were in males while 7843 (58.1%) were in femal…

0301 basic medicineAdultMaleCancer ResearchPathologymedicine.medical_specialtygenetic structuresAdolescentDatabases FactualEpidemiologyPopulationMalignancyOral cavity03 medical and health sciencesYoung Adult0302 clinical medicineBreast cancerGovernment AgenciesNeoplasmsmedicineHumansPakistanRegistriesYoung adulteducationChildReferral and ConsultationAgededucation.field_of_studybusiness.industryIncidence (epidemiology)IncidenceInfant NewbornCancerInfantMiddle Agedmedicine.diseaseCancer registry030104 developmental biologyOncology030220 oncology & carcinogenesisChild PreschoolFemalebusinessCancer epidemiology
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Malignant granular cell tumor of soft tissues: a study of two new cases.

2001

We describe 2 cases of malignant granular cell tumor. A marked discrepancy exists concerning the criteria of malignancy of this rare entity, which was diagnosed in male patients aged 41 and 52 years, respectively. They presented with tumors measuring more then 3.5 cm; one arose in the dermis and subcutaneous tissue in the region of the scapula, whereas the other was situated in deeper soft tissue in the pelvis. One case, with previous diagnosis of benign granular cell tumor, presented local recurrence 2 years after the initial diagnosis. The other case presented a fascicular pattern of growth invading adjacent muscular tissue. Both neoplasms were composed of polygonal and spindle cells, sho…

0301 basic medicineAdultMalePathologymedicine.medical_specialtyBenign Granular Cell TumorVimentinSoft Tissue NeoplasmsBiologyMalignancyPathology and Forensic Medicine03 medical and health sciences0302 clinical medicineDermismedicineMalignant Granular Cell TumorHumansSoft tissueAnatomyMiddle Agedmedicine.diseaseImmunohistochemistry030104 developmental biologymedicine.anatomical_structureGranular Cell Tumor030220 oncology & carcinogenesisbiology.proteinImmunohistochemistrySurgeryAnatomySubcutaneous tissueInternational journal of surgical pathology
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Genome-wide DNA methylation study in human placenta identifies novel loci associated with maternal smoking during pregnancy

2016

BACKGROUND: We conducted an epigenome-wide association study (EWAS) of DNA methylation in placenta in relation to maternal tobacco smoking during pregnancy and examined whether smoking-induced changes lead to low birthweight. METHODS: DNA methylation in placenta was measured using the Illumina HumanMethylation450 BeadChip in 179 participants from the INfancia y Medio Ambiente (INMA) birth cohort. Methylation levels across 431 311 CpGs were tested for differential methylation between smokers and non-smokers in pregnancy. We took forward three top-ranking loci for further validation and replication by bisulfite pyrosequencing using data of 248 additional participants of the INMA cohort. We ex…

0301 basic medicineAdultMaleplacentaEpidemiologyMaternal smokingPlacentaEpigenesis GeneticCohort Studies03 medical and health sciencesPregnancyTobacco SmokingMedicineBirth WeightHumansFetal programmingtobacco smokingCotinineDones embarassades -- Consum de tabacDNA methylationepigeneticsbusiness.industryInfant NewbornHuman placentaGeneral MedicineDNA MethylationMendelian Randomization Analysis030104 developmental biologyfetal programmingbirthweightMaternal ExposureSpainLinear ModelsChristian ministryCpG IslandsFemaleDNA -- MetilacióbusinessHumanitiesGenome-Wide Association Study
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Severe pre-eclampsia is associated with alterations in cytotrophoblasts of the smooth chorion.

2016

Pre-eclampsia (PE), which affects ∼8% of first pregnancies, is associated with faulty placentation. Extravillous cytotrophoblasts (CTBs) fail to differentiate properly, contributing to shallow uterine invasion and deficient spiral artery remodeling. We studied the effects of severe PE (sPE) on the smooth chorion portion of the fetal membranes. The results showed a significant expansion of the CTB layer. The cells displayed enhanced expression of stage-specific antigens that extravillous CTBs normally upregulate as they exit the placenta. Transcriptomics revealed the dysregulated expression of many genes (e.g. placental proteins, markers of oxidative stress). We confirmed an sPE-related incr…

0301 basic medicineAdultSpiral arteryTranscription GeneticPlacentaHuman DevelopmentCTBSExtraembryonic MembranesBiology210Andrology03 medical and health sciences0302 clinical medicineDownregulation and upregulationPre-EclampsiaPregnancyPlacentamedicineHumansPregnancy-Associated Plasma Protein-AMolecular BiologyCytotrophoblastPAPPA1Cell ProliferationFetus030219 obstetrics & reproductive medicineCytotrophoblastPlacentationGene Expression Regulation DevelopmentalPreterm birthChorionPlacentationTrophoblastsOxidative Stress030104 developmental biologymedicine.anatomical_structureImmunologyembryonic structuresKeratinsFemaleCytotrophoblastsTranscriptomeDevelopmental BiologyProtein BindingHumanDevelopment (Cambridge, England)
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