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showing 10 items of 17685 documents

Altered distribution and function of splenic innate lymphoid cells in adult chronic immune thrombocytopenia

2018

IF 7.607; International audience; Innate lymphoid cells (ILCs) have been characterized as innate immune cells capable to modulate the immune response in the mucosae. Human ILCs have been rarely described in secondary lymphoid organs except in tonsils. Moreover, their function and phenotype in human secondary lymphoid organs during autoimmune diseases have never been studied. We took advantage of splenectomy as a treatment of immune thrombocytopenia (ITP) to describe and compare splenic ILC from 18 ITP patients to 11 controls. We first confirmed that ILC3 represented the most abundant ILC subset in human non-inflamed spleens, accounting for 90% of total ILC, and that they were mostly constit…

0301 basic medicineAdultMalemedicine.medical_treatmentImmunologySplenectomyGene ExpressionSpleenInnate lymphoid cells[SDV.CAN]Life Sciences [q-bio]/Cancer03 medical and health sciencesInterferon-gamma0302 clinical medicineImmune systemhemic and lymphatic diseasesmedicineImmunology and AllergyHumansLymphocyte CountLymphocytesskin and connective tissue diseasesAutoimmune diseasePurpura Thrombocytopenic IdiopathicInnate immune systemNatural Cytotoxicity Triggering Receptor 2business.industryMacrophagesInnate lymphoid cellInterleukin-2 Receptor alpha SubunitGranulocyte-Macrophage Colony-Stimulating FactorCell DifferentiationMiddle Agedmedicine.diseasePathophysiologyImmunity Innate3. Good healthImmune thrombocytopenia030104 developmental biologymedicine.anatomical_structureLymphatic systemCase-Control StudiesImmunologySplenectomyFemalebusinessSpleen030215 immunology
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Application of guidelines for the management of nonalcoholic fatty liver disease in three prospective cohorts of HIV-monoinfected patients

2020

Objectives: Current guidelines recommend use of a diagnostic algorithm to assess disease severity in cases of suspected nonalcoholic fatty liver disease (NAFLD). We applied this algorithm to HIV-monoinfected patients. Methods: We analysed three prospective screening programmes for NAFLD carried out in the following cohorts: the Liver Disease in HIV (LIVEHIV) cohort in Montreal, the Modena HIV Metabolic Clinic (MHMC) cohort and the Liver Pathologies in HIV in Palermo (LHivPa) cohort. In the LIVEHIV and LHivPa cohorts, NAFLD was diagnosed if the controlled attenuation parameter (CAP) was ≥ 248 dB/m; in the MHMC cohort, it was diagnosed if the liver/spleen Hounsfield unit (HU) ratio on abdomin…

0301 basic medicineAdultMalenonalcoholic fatty liver diseasemedicine.medical_specialtyCanadaHIV monoinfection; fibrosis-4; guidelines; nonalcoholic fatty liver disease; specialist referralHIV monoinfectionHIV InfectionsSeverity of Illness Index03 medical and health sciencesLiver disease0302 clinical medicineNon-alcoholic Fatty Liver DiseaseInternal medicineDiabetes mellitusNonalcoholic fatty liver diseasespecialist referralmedicineHumansPharmacology (medical)030212 general & internal medicineProspective Studiesbusiness.industryHealth Policyfibrosis-4Alanine TransaminaseHepatologyMiddle Agedmedicine.disease030112 virologyObesityInfectious DiseasesItalyCohortPractice Guidelines as TopicCoinfectionFemaleGuideline AdherencebusinessViral hepatitisTomography X-Ray ComputedguidelineAlgorithms
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Molecular and clinical studies in five index cases with novel mutations in the GLA gene

2016

Fabry disease is a metabolic and lysosomal storage disorder caused by the functional defect of the α-galactosidase A enzyme; this defect is due to mutations in the GLA gene, that is composed of seven exons and is located on the long arm of the X-chromosome (Xq21–22). The enzymatic deficit is responsible for the accumulation of glycosphingolipids in lysosomes of different cellular types, mainly in those ones of vascular endothelium. It consequently causes a cellular and microvascular dysfunction. In this paper, we described five novel mutations in the GLA gene, related to absent enzymatic activity and typical manifestations of Fabry disease. We identified three mutations (c.846_847delTC, p.E…

0301 basic medicineAdultMalep.R227Pnovel moutationAdolescentc.639 + 5G > TMutation MissenseBiologyLeft ventricular hypertrophy03 medical and health sciencesExonYoung Adult0302 clinical medicineSettore BIO/13 - Biologia ApplicataGeneticsmedicinefabry; novel moutationMissense mutationAlpha-galactosidase AHumansPoint MutationCornea verticillataGenetic Predisposition to DiseaseChildfabryGLA genec.846_847delTCGeneticsAlpha-galactosidasePoint mutationFabry disease; Alpha-galactosidase A; c.846_847delTC; p.E341X; p.C382X; p.R227P; c.639 + 5G > Tp.E341XGeneral MedicineMiddle Agedmedicine.diseaseMolecular biologyFabry diseaseStop codon030104 developmental biologyp.C382Xalpha-Galactosidasebiology.proteinFabry DiseaseFemalemedicine.symptom030217 neurology & neurosurgery
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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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Novel noninvasive embryo selection algorithm combining time-lapse morphokinetics and oxidative status of the spent embryo culture medium.

2019

Objective To develop a noninvasive embryo selection algorithm consisting of time-lapse morphokinetics and the oxidative status of the spent embryo culture medium determined using the Thermochemiluminescence (TCL) Analyzer. Design Retrospective cohort. Setting Not applicable. Patient(s) From women participating in the oocyte donation program, data from 505 samples of spent embryo culture media samples from 292 intracytoplasmic sperm injection cycles. Intervention(s) None. Main Outcome Measure(s) Morphokinetic parameters assessed during incubation in the time-lapse system Embryoscope. Oxidative parameters (H1sm, H2sm, and H3sm) from the spent culture medium on day 5 of incubation measured usi…

0301 basic medicineAdultanimal structuresmedicine.medical_treatmentOxidative phosphorylationBiologyTime-Lapse ImagingIntracytoplasmic sperm injectionAndrologyCohort StudiesEmbryo Culture Techniques03 medical and health sciences0302 clinical medicineHuman fertilizationPregnancymedicineHumansIncubationRetrospective StudiesPregnancy030219 obstetrics & reproductive medicineObstetrics and GynecologyEmbryo cultureEmbryomedicine.diseaseEmbryo TransferCulture MediaKineticsOxidative Stress030104 developmental biologyReproductive Medicineembryonic structuresFemaleEmbryo qualityAlgorithmsFertility and sterility
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The carriers of the A/G-G/G allelic combination of the c.2039 A>G and c.-29 G>A FSH receptor polymorphisms retrieve the highest number of oocytes in …

2016

The objective of this study was the elucidation of the possible role of the single-nucleotide polymorphisms (SNP) at position -29 and 2039 of the FSH receptor gene (FSHR) as independent predictive markers of ovarian response. Indeed, the tailoring of reproductive treatments is crucial for both maximizing the success of IVF patients and obtaining a reduction in hypo- or hyper-response rates. This prospective, observational study analyzed the association of -29 and 2039 FSHR polymorphisms with the number of retrieved oocytes in 140 patients attending an IVF/ICSI cycle for severe male factors (≤5,000,000 spermatozoa/mL) or tubal factors at the ANDROS Day Surgery Clinic, Palermo, Italy. The res…

0301 basic medicineAdultmedicine.medical_specialtyClinical variablesAdolescentGenotypePregnancy RateOocyte RetrievalFertilization in VitroBiology03 medical and health sciences0302 clinical medicineOvulation InductionPregnancyInternal medicineCOHmedicineGeneticsSNPHumansSperm Injections IntracytoplasmicAlleleGenetics (clinical)AllelesTreatment personalization030219 obstetrics & reproductive medicineIVF/ICSISurgery clinicObstetrics and GynecologyGeneral MedicineIvf icsiHuman genetics030104 developmental biologyEndocrinologyReproductive MedicineFSH receptor polymorphismOocytesReceptors FSHFemaleFsh receptor geneFollicle-stimulating hormone receptorDevelopmental Biology
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Combination of metabolism measurement and a time-lapse system provides an embryo selection method based on oxygen uptake and chronology of cytokinesi…

2016

Objective To evaluate correlations between oxygen consumption (OC) measurements before and after embryo cytokinesis, observing OC during embryo cleavages and combining that information with morphokinetics to relate to implantation potential. Design Prospective cohort study. Setting University-affiliated private IVF unit. Patient(s) A total of 1,150 injected oocytes in 86 first oocyte donation cycles with embryo transfer on day 3. Intervention(s) None. Main Outcome Measurement(s) We analyzed the embryo OC and combined this data with the cytokinesis event, exact timing (in hours) of blastomeric cleavages, with the use of an incubator equipped with time-lapse videography, gathering a total of …

0301 basic medicineAdultmedicine.medical_specialtyanimal structuresTime FactorsAdolescentPregnancy RateCell SurvivalTransducersVideo RecordingBiologyTime-Lapse ImagingAndrologyEmbryo Culture Techniques03 medical and health sciencesYoung Adult0302 clinical medicinePredictive Value of TestsPregnancymedicineHumansEmbryo ImplantationProspective StudiesSperm Injections IntracytoplasmicCytokinesis030219 obstetrics & reproductive medicineMiniaturizationEmbryogenesisObstetrics and GynecologyEmbryoMetabolismEquipment DesignEmbryo TransferEmbryo MammalianEmbryo transferSurgeryOxygenPregnancy rate030104 developmental biologyTreatment OutcomeReproductive Medicineembryonic structuresFemaleSelection methodEnergy MetabolismEmbryo qualityCytokinesisFertility and sterility
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Role of Natural Stilbenes in the Prevention of Cancer

2015

Natural stilbenes are an important group of nonflavonoid phytochemicals of polyphenolic structure characterized by the presence of a 1,2-diphenylethylene nucleus. Stilbenes have an extraordinary potential for the prevention and treatment of different diseases, including cancer, due to their antioxidant, cell death activation, and anti-inflammatory properties which associate with low toxicity underin vivoconditions. This review aims to discuss various approaches related to their mechanisms of action, pharmacological activities in animal models and humans, and potential chemoprevention in clinical studies. The biological activity of natural stilbenes is still incompletely understood. Furtherm…

0301 basic medicineAgingAntioxidantmedicine.medical_treatmentReview ArticlePharmacologyResveratrolChemopreventionBiochemistryStructure-Activity Relationship03 medical and health scienceschemistry.chemical_compound0302 clinical medicinePharmacokineticsIn vivoNeoplasmsStilbenesmedicineAnimalsHumansStructure–activity relationshiplcsh:QH573-671Clinical Trials as Topiclcsh:CytologyChemistryBiological activityCell BiologyGeneral MedicineBioavailability030104 developmental biologyResveratrolPolyphenol030220 oncology & carcinogenesisOxidative Medicine and Cellular Longevity
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Neuronal inhibition of the autophagy nucleation complex extends life span in post-reproductive C. elegans

2017

Autophagy is a ubiquitous catabolic process that causes cellular bulk degradation of cytoplasmic components and is generally associated with positive effects on health and longevity. Inactivation of autophagy has been linked with detrimental effects on cells and organisms. The antagonistic pleiotropy theory postulates that some fitness-promoting genes during youth are harmful during aging. On this basis, we examined genes mediating post-reproductive longevity using an RNAi screen. From this screen, we identified 30 novel regulators of post-reproductive longevity, including pha-4. Through downstream analysis of pha-4, we identified that the inactivation of genes governing the early stages of…

0301 basic medicineAgingCytoplasmmedia_common.quotation_subjectLongevityVesicular Transport ProteinsContext (language use)Biology03 medical and health sciences0302 clinical medicinePleiotropyAutophagyGeneticsmedicineAnimalsGene SilencingCaenorhabditis elegansCaenorhabditis elegans ProteinsGenemedia_commonNeuronsGeneticsReproductionNeurodegenerationAutophagyLongevityGenetic Pleiotropymedicine.diseaseCell biology030104 developmental biologyCytoplasmSarcopeniaTrans-ActivatorsRNA InterferenceFunction and Dysfunction of the Nervous System030217 neurology & neurosurgerySignal TransductionResearch PaperDevelopmental BiologyGenes & Development
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Telomere length and health outcomes: An umbrella review of systematic reviews and meta-analyses of observational studies.

2019

The aim of the present study was to map and grade evidence for the relationships between telomere length with a diverse range of health outcomes, using an umbrella review of systematic reviews with meta-analyses. We searched for meta-analyses of observational studies reporting on the association of telomere length with any health outcome (clinical disease outcomes and intermediate traits). For each association, random-effects summary effect size, 95% confidence interval (CI), and 95% prediction interval were calculated. To evaluate the credibility of the identified evidence, we assessed also heterogeneity, evidence for small-study effect and evidence for excess significance bias. Twenty-one…

0301 basic medicineAgingPopulationDiseaseBiochemistry03 medical and health sciencesUmbrella review0302 clinical medicineAlzheimer DiseaseStomach NeoplasmsDiabetes MellitusMedicineHumanseducationObservational studiesMolecular Biologyeducation.field_of_studyTelomere lengthbusiness.industryIncidence (epidemiology)IncidenceEvidence-based medicineTelomereConfidence intervalObservational Studies as Topic030104 developmental biologySystematic reviewTreatment OutcomeNeurologyTelomere length; Umbrella review; Observational studiesRelative riskCase-Control Studies*Telomere length*Observational studiesObservational studybusiness*Umbrella review030217 neurology & neurosurgeryBiotechnologyDemography
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