Search results for "Loi"

showing 10 items of 4617 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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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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Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations.

2015

Abstract GATA2 deficiency—formerly described as MonoMAC syndrome; dendritic cells, monocytes, B cells, and natural killer cell deficiency; familial myelodysplastic syndrome/acute myeloid leukemia; or Emberger syndrome—encompasses a range of hematologic and nonhematologic anomalies, mainly characterized by monocytopenia, B lymphopenia, natural killer cell cytopenia, neutropenia, immunodeficiency, and a high risk of developing acute myeloid leukemia. Herein, we present 7 patients with GATA2 deficiency recruited into the French Severe Chronic Neutropenia Registry, which enrolls patients with all kinds of congenital neutropenia. We performed extended immunophenotyping of their whole blood lymph…

0301 basic medicineAdultMaleReceptors CXCR4AdolescentLymphocyteT-LymphocytesImmunologyMonocytopeniaBiologyNatural killer cell03 medical and health sciencesYoung AdultImmunophenotypinghemic and lymphatic diseasesmedicineImmunology and AllergyHumansLymphocyte CountCongenital NeutropeniaChildAgedCytopeniaB-LymphocytesGATA2 DeficiencyTraditional medicineChemotaxisCell MembraneMyeloid leukemiaCell Biologymedicine.diseaseCD56 AntigenChemokine CXCL12GATA2 Transcription FactorKiller Cells Natural030104 developmental biologymedicine.anatomical_structureImmunologyMutationFemaleJournal of leukocyte biology
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Primary prophylaxis of invasive fungal infections with posaconazole or itraconazole in patients with acute myeloid leukaemia or high-risk myelodyspla…

2017

This is an observational-retrospective study comparing the real-world outcomes associated with posaconazole vs. itraconazole as prophylaxis treatments. Two hundred and ninety-three patient admissions attributable to 174 patients were included in the study. Patients were treated with itraconazole (n = 114 admissions; 39%) or posaconazole (n = 179; 61%). Antifungal prophylaxis failure (APF) due to treatment-related adverse events (in 34 out of 293 patient admissions; 11.6%) was more frequent in the posaconazole group (6.1% vs. 15.1%; P = 0.024). There were 9 patient admissions for episodes of APF due to probable/proven breakthrough fungal infection (primary endpoint): 6 and 3 in the itraconaz…

0301 basic medicineAdultMalemedicine.medical_specialtyPosaconazoleAntifungal AgentsDrug-Related Side Effects and Adverse ReactionsItraconazole030106 microbiologyDermatologyNeutropenia03 medical and health sciencesInternal medicinemedicineClinical endpointHumansIn patientTreatment FailureAdverse effectAgedRetrospective StudiesInvasive Pulmonary Aspergillosisbusiness.industryMyelodysplastic syndromesGeneral MedicineMiddle AgedTriazolesmedicine.diseaseSurgeryClinical trialLeukemia Myeloid AcuteInfectious DiseasesMyelodysplastic SyndromesFemalePre-Exposure ProphylaxisItraconazolebusinessInvasive Fungal Infectionsmedicine.drugMycoses
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Kinetics of the early development of uniparental human haploid embryos

2016

Objective: To describe morphokinetically the early development of human haploid parthenotes and androgenotes and to compare them with euploid embryos. Design: Experimental study of kinetics. Setting: University-affiliated private fertility center. Patient(s): Experimental haploid parthenotes and androgenotes. Intervention(s): Kinetic study of early development (up to eight cells) of 8 parthenotes, 10 androgenotes, and 20 euploid embryos. Main Outcome Measure(s): Timing of the first seven cleavages determined according to embryo origin, then calculation of the duration of the second and third cell cycles (cc2 and cc3) of whole embryos and individual cells. Result(s): Parthenotes and androgen…

0301 basic medicineAdultanimal structuresAdolescentmedicine.medical_treatmentEmbryonic DevelopmentBiologyHaploidyIntracytoplasmic sperm injectionAndrology03 medical and health sciencesYoung Adult0302 clinical medicinemedicineHumansSperm Injections IntracytoplasmichumanGenetics030219 obstetrics & reproductive medicineOutcome measuresObstetrics and GynecologyEmbryoOocyte activationAndrogenoteAneuploidyKineticshaploid030104 developmental biologyReproductive Medicinemorphokineticparthenoteembryonic structuresPloidy
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Acute Exercise Modulates Pain-induced Response on Sensorimotor Cortex ∼20 Hz Oscillation.

2019

Exercise affects positively on self-reported pain in musculoskeletal pain conditions possibly via top-down pain inhibitory networks. However, the role of cortical activity in these networks is unclear. The aim of the current exploratory study was to investigate the effects of acute exercise on cortical nociceptive processing and specifically the excitability in the human sensorimotor cortex. Five healthy adults (mean age 32.8 years) were recorded with a whole-head 306-channel magnetoencephalography (MEG, Elekta Neuromag® Triux™). Participant’s right hand third fingertip was stimulated electrically with an intracutaneous non-magnetic copper tip electrode before and immediately after an exerc…

0301 basic medicineAdultbrain oscillationsPainStimulationEvoked fieldIsometric exerciseliikuntaStimulus (physiology)Inhibitory postsynaptic potentialSomatosensory systemkivunhoito03 medical and health sciences0302 clinical medicineEvoked Potentials SomatosensorymedicineHumanselectrical stimulationsensorimotor cortexExerciseMEGexercisemedicine.diagnostic_testbusiness.industryGeneral NeuroscienceMagnetoencephalographyMagnetoencephalographySomatosensory Cortexaivokuori030104 developmental biologyNociceptionmagnetoencephalographstimulointiSensorimotor CortexbusinessNeuroscience030217 neurology & neurosurgeryliikuntahoitoNeuroscience
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Hypomethylating agents in relapsed and refractory AML: outcomes and their predictors in a large international patient cohort.

2018

Although hypomethylating agents (HMAs) are frequently used in the frontline treatment of older acute myeloid leukemia (AML) patients, little is known about their effectiveness in relapsed or primary treatment–refractory (RR)-AML. Using an international multicenter retrospective database, we studied the effectiveness of HMAs in RR-AML and evaluated for predictors of response and overall survival (OS). A total of 655 patients from 12 centers received azacitidine (57%) or decitabine (43%), including 290 refractory (44%) and 365 relapsed (56%) patients. Median age at diagnosis was 65 years. Best response to HMAs was complete remission (CR; 11%) or CR with incomplete count recovery (CRi; 5.3%). …

0301 basic medicineAdultmedicine.medical_specialtyAntimetabolites AntineoplasticMyeloidAdolescentDatabases FactualAzacitidineDecitabineSalvage therapyDecitabineCohort Studies03 medical and health sciencesYoung Adult0302 clinical medicineRefractoryInternal medicinehemic and lymphatic diseasesmedicineHumansSurvival analysisAgedRetrospective StudiesAged 80 and overSalvage TherapyMyeloid Neoplasiabusiness.industryRemission InductionRetrospective cohort studyHematologyDNA MethylationMiddle Agedmedicine.diseasePrognosisSurvival AnalysisLeukemiaLeukemia Myeloid Acute030104 developmental biologymedicine.anatomical_structureTreatment Outcome030220 oncology & carcinogenesisAdolescent; Adult; Aged; Aged 80 and over; Antimetabolites Antineoplastic; Cohort Studies; DNA Methylation; Databases Factual; Decitabine; Humans; Leukemia Myeloid Acute; Middle Aged; Prognosis; Remission Induction; Retrospective Studies; Salvage Therapy; Survival Analysis; Treatment Outcome; Young Adultbusinessmedicine.drug
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Preimplantation genetic testing for aneuploidy in patients with partial X monosomy using their own oocytes: is this a suitable indication?

2019

Objective To describe the outcome of preimplantation genetic testing (PGT-A) using their own oocytes in patients with mosaic Turner Syndrome (MTS). The impact of the assisted reproduction technique (ART) performed (PGT-A or oocyte donation) and the type of absence of the X chromosome (total or partial) were considered. Design Retrospective observational multicenter study. Setting University-affiliated private in vitro fertilization center. Patient(s) Fifty-six patients with MTS with whom 65 ovarian stimulation cycles for PGT-A (fluorescence in situ hybridization/arrays-next generation sequencing) were performed. The study included 90 women with MTS and 20 women with pure Turner Syndrome (PT…

0301 basic medicineAdultmedicine.medical_specialtyMonosomyAneuploidyOocyte RetrievalTurner SyndromeFertilization in Vitro03 medical and health sciences0302 clinical medicinePredictive Value of TestsPregnancyTurner syndromemedicineHumansGenetic TestingX chromosomeIn Situ Hybridization FluorescencePreimplantation DiagnosisRetrospective StudiesGynecologyChromosomes Human X030219 obstetrics & reproductive medicinemedicine.diagnostic_testOocyte Donationbusiness.industryObstetrics and GynecologyHigh-Throughput Nucleotide Sequencingmedicine.diseaseAneuploidyConfidence intervalEmbryo transfer030104 developmental biologyFertilityReproductive MedicineSpainInfertilityOocytesFemaleLive birthbusinessFluorescence in situ hybridizationFertility and sterility
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IGF-1 Haploinsufficiency Causes Age-Related Chronic Cochlear Inflammation and Increases Noise-Induced Hearing Loss

2021

This article belongs to the Collection Insulin-Like Growth Factors in Development, Cancers and Aging.

0301 basic medicineAgingApoptosisHaploinsufficiencyMice0302 clinical medicineBiology (General)Insulin-Like Growth Factor ICell DeathapoptosisGeneral Medicine3. Good healthCochleaCytokinesmedicine.symptomHaploinsufficiencyNoise-induced hearing lossmedicine.medical_specialtyHeterozygoteHearing lossQH301-705.5InflammationArticleARHLProinflammatory cytokine03 medical and health sciencesInternal medicinemedicineotorhinolaryngologic diseasesAnimalsRNA MessengerProtein kinase BCochleaInflammationbusiness.industryGene Expression ProfilingAKTTGFβ1Auditory Thresholdmedicine.diseaseOxidative Stress030104 developmental biologyEndocrinologyGene Expression RegulationHearing Loss Noise-InducedAgeingSynapsesIL1βJNKbusinessNoise030217 neurology & neurosurgeryBiomarkersNIHL
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The Role of Chemokines in Alzheimer's Disease

2019

Objective: The most common multifactorial neurodegenerative disorder occurring in old age is Alzheimer’s disease. The neuropathological hallmarks of that disorder are amyloid plaques with the presence of β -amyloid aggregates, intraneuronal tau protein tangles, and chronic inflammation. Brain cells such as microglia and astrocytes are inflammatory cells associated with Alzheimer’s disease and involved in the production of inflammatory mediators, such as cytokines and chemokines. Chemokines consist of a large family of protein mediators with low molecular weight, which able to control the migration and residence of all immune cells. In pathological conditions, such as Alzheimer’s disease, c…

0301 basic medicineAgingChemokineAmyloidEndocrinology Diabetes and MetabolismTau protein030209 endocrinology & metabolismInflammation03 medical and health sciences0302 clinical medicineImmune systemAlzheimer DiseaseAmyloid precursor proteinAnimalsHumansImmunology and AllergyMedicineSenile plaquesInflammationbiologyMicrogliabusiness.industryBrainOxidative Stress030104 developmental biologymedicine.anatomical_structureImmunologybiology.proteinReceptors ChemokineChemokinesmedicine.symptombusinessEndocrine, Metabolic & Immune Disorders - Drug Targets
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