Search results for "MPL"

showing 10 items of 21777 documents

Treatment for hereditary angioedema with normal C1-INH and specific mutations in the F12 gene (HAE-FXII).

2016

Hereditary angioedema with normal C1 esterase inhibitor and mutations in the F12 gene (HAE-FXII) is associated with skin swellings, abdominal pain attacks, and the risk of asphyxiation due to upper airway obstruction. It occurs nearly exclusively in women. We report our experience treating HAE-FXII with discontinuation of potential trigger factors and drug therapies. The study included 72 patients with HAE-FXII. Potential triggers included estrogen-containing oral contraceptives (eOC), hormonal replacement therapy, or angiotensin-converting enzyme inhibitors. Drug treatment comprised plasma-derived C1 inhibitor (pdC1-INH) for acute swelling attacks and progestins, tranexamic acid, and danaz…

0301 basic medicineAdultMalemedicine.medical_specialtyExacerbationAdolescentImmunologyAngiotensin-Converting Enzyme InhibitorsGastroenterologyChemopreventionC1-inhibitorHereditary Angioedema Type III03 medical and health sciencesYoung Adult0302 clinical medicineRisk FactorsInternal medicinemedicineImmunology and AllergyHumansHereditary Angioedema Type IIIChildAgedDanazolbiologybusiness.industryEstrogensMiddle Agedmedicine.diseaseSurgeryDiscontinuation030104 developmental biologyTreatment Outcome030228 respiratory systemQuinaprilHereditary angioedemaFactor XIIMutationbiology.proteinDisease ProgressionFemalebusinessComplement C1 Inhibitor ProteinTranexamic acidBiomarkersmedicine.drugAllergy
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Analysis of cold activation of the contact system in hereditary angioedema with normal C1 inhibitor.

2021

Hereditary angioedema (HAE) attacks are caused by excessive activation of the contact system. Understanding how the contact system is activated in HAE, especially in patients with normal C1 inhibitor (HAEnCI), is essential to effectively treat this disease. Contact system activation involves the cleavage of several proteins including Factor XII (FXII), high molecular weight kininogen (HK), prekallikrein, sgp120 (ITIH4) and C1 inhibitor (C1-INH) before the subsequent generation of bradykinin that mediates HAE. In this study, we evaluated the fragmentation and enzymatic activity of contact system proteins in HAEnCI plasma samples before and after contact system activation induced by incubatio…

0301 basic medicineAdultMalemedicine.medical_specialtyHigh-molecular-weight kininogenImmunologyProteinase Inhibitory Proteins SecretoryBradykininBradykininC1-inhibitorHereditary Angioedema Type III03 medical and health scienceschemistry.chemical_compoundYoung Adult0302 clinical medicineInternal medicinemedicineHumansFragmentation (cell biology)Molecular BiologyBlood CoagulationFactor XIIbiologyKininogensPrekallikreinPrekallikreinEstrogensPlasminogenKallikreinMiddle Agedmedicine.diseaseCold Temperature030104 developmental biologyEndocrinologychemistryHereditary angioedemaFactor XIIbiology.proteinFemaleKallikreinsComplement C1 Inhibitor Protein030215 immunologyMolecular immunology
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Human limbal fibroblast-like stem cells induce immune-tolerance in autoreactive T lymphocytes from female patients with Hashimoto’s thyroiditis

2017

Background Due to their “natural immune privilege” and immunoregulatory properties human fibroblast-like limbal stem cells (f-LSCs) have acquired great interest as a potential tool for achieving immunotolerance. Hashimoto’s thyroiditis (HT) is the most common thyroid autoimmune disease and cause of hypothyroidism. To date, conventional hormone replacement therapy and unspecific immunosuppressive regimens cannot provide a definitive cure for HT subjects. We explored the immunosuppressant potential of human f-LSCs on circulating lymphomonocytes (PBMCs) collected from healthy donors and female HT patients. Methods We assessed the immunophenotyping of f-LSCs, both untreated and after 48 h of pr…

0301 basic medicineAdultMedicine (miscellaneous)Hashimoto DiseaseCD8-Positive T-LymphocytesInflammatory diseasesMajor histocompatibility complexBiochemistry Genetics and Molecular Biology (miscellaneous)Settore MED/13 - EndocrinologiaProinflammatory cytokineImmune tolerancelcsh:Biochemistry03 medical and health scienceschemistry.chemical_compoundHuman limbal stem cells Hashimoto’s thyroiditis Immunoregulation Tolerance induction Inflammatory diseasesImmune privilegeImmune ToleranceMedicineHumanslcsh:QD415-436Tolerance inductionCells CulturedAgedlcsh:R5-920biologybusiness.industryResearchStem CellsInterleukinImmunoregulationCarboxyfluorescein succinimidyl esterCell BiologyHashimoto’s thyroiditisFibroblastsMiddle AgedTh1 Cells030104 developmental biologychemistryImmunologybiology.proteinHuman limbal stem cellsMolecular MedicineCytokinesFemaleStem cellbusinesslcsh:Medicine (General)CD8Stem Cell Research & Therapy
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Roux-en-Y Gastric Bypass as an Effective Bariatric Revisional Surgery after Restrictive Procedures

2020

<b><i>Introduction:</i></b> Revisional surgery must be considered when insufficient weight loss is attained or weight is subsequently regained. This study aimed to investigate the value of Roux-en-Y gastric bypass (RYGB) as a revisional procedure after restrictive surgery. <b><i>Materials and Methods:</i></b> An observational, retrospective study including patients initially operated on for morbid obesity with restrictive techniques (vertical-banded gastroplasty [VBG], adjustable gastric band [AGB], and sleeve gastrectomy) and reoperated with RYGB in our centre between December 1994 and January 2019. Demographic and anthropometric data, associ…

0301 basic medicineAdultReoperationSleeve gastrectomymedicine.medical_specialtyHealth (social science)Gastroplastymedicine.medical_treatmentGastric bypassGastric BypassPulmonary diseaseBariatric Surgerylcsh:TX341-641030209 endocrinology & metabolismComorbidity03 medical and health sciences0302 clinical medicineWeight lossPhysiology (medical)Weight LossmedicineHumansAdjustable gastric bandIntraoperative Complicationslcsh:RC620-627Retrospective Studies030109 nutrition & dieteticsbusiness.industryMortality rateRetrospective cohort studyLength of StayMiddle AgedRoux-en-Y anastomosisSurgeryObesity Morbidlcsh:Nutritional diseases. Deficiency diseasesconversion surgeryinsufficient weight lossmedicine.symptombusinesslcsh:Nutrition. Foods and food supplyResearch Article
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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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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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Observational prospective study on Lactobacillus plantarum P 17630 in the prevention of vaginal infections, during and after systemic antibiotic ther…

2018

We performed a prospective cohort parallel observational study on the use of Lactobacillus plantarum P 17630 in the prevention of vaginal infections. Eligible were women with a diagnosis of bacterial vaginosis (15 days) and documented history of recurrent vaginal infections; and/or cystitis (15 days); and/or treatment with antibiotics for bacterial respiratory tract infections during the week before the study entry. Study subjects were prescribed Lactobacillus plantarum P 17630  100.000.000 UFC one vaginal capsule per day for 6 days, then a capsule per week for 16 weeks. Eligible subjects were enrolled in two parallel cohorts: 85 women using (group A) and 39 not using (group B) Lactobacillu…

0301 basic medicineAdultmedicine.medical_specialtymedicine.drug_class030106 microbiologyAntibioticsPopulationGroup B03 medical and health sciences0302 clinical medicineInternal medicineCystitismedicineSecondary PreventionHumansProspective StudiesProspective cohort studyeducationVaginitisRespiratory Tract Infectionseducation.field_of_studybiologyGenitourinary systembusiness.industryProbioticsPreventionfood and beveragesObstetrics and GynecologyMiddle Agedmedicine.diseasebiology.organism_classification030205 complementary & alternative medicineAnti-Bacterial AgentsObservational studyFemaleBacterial vaginosisbusinessbacterial vaginosis; Lactobacillus plantarum; Prevention; Adult; Anti-Bacterial Agents; Cystitis; Female; Humans; Middle Aged; Probiotics; Prospective Studies; Respiratory Tract Infections; Secondary Prevention; Vaginitis; Lactobacillus plantarum; Obstetrics and GynecologyLactobacillus plantarumbacterial vaginosis; Lactobacillus plantarum; Preventionbacterial vaginosisLactobacillus plantarum
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The emerging role of Notch pathway in ageing: Focus on the related mechanisms in age-related diseases

2016

Notch signaling is an evolutionarily conserved pathway, which is fundamental for the development of all tissues, organs and systems of human body. Recently, a considerable and still growing number of studies have highlighted the contribution of Notch signaling in various pathological processes of the adult life, such as age-related diseases. In particular, the Notch pathway has emerged as major player in the maintenance of tissue specific homeostasis, through the control of proliferation, migration, phenotypes and functions of tissue cells, as well as in the cross-talk between inflammatory cells and the innate immune system, and in onset of inflammatory age-related diseases. However, until …

0301 basic medicineAgingNotchNotch pathwayNotch signaling pathwayInflammationa signaling complex networkBiologyBiochemistryBiomarkers and targets for personalized treatmentBiomarkers and targets for personalized treatments03 medical and health sciencesAge relatedAge-related diseaseReceptorsmedicineA signaling complex network; Age-related diseases; Ageing; Biomarkers and targets for personalized treatments; Involved mechanisms; Notch pathway; Aging; Animals; Homeostasis; Humans; Inflammation; Inflammation Mediators; Receptors Notch; Signal TransductionAnimalsHomeostasisHumansMolecular BiologyInflammationInnate immune systemReceptors NotchSettore BIO/11Involved mechanismsAge-related diseases; Ageing; Biomarkers and targets for personalized treatments; Involved mechanisms; Notch pathway; a signaling complex networkPhenotypeInvolved mechanismAgeing030104 developmental biologyNeurologyAgeingImmunologymedicine.symptomSignal transductionInflammation MediatorsNeuroscienceHomeostasisAge-related diseasesBiotechnologySignal Transduction
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Heterogeneous Indicators of Cognitive Performance and Performance Variability Across the Lifespan

2020

Reaction time (RT) and RT variability are core components of cognitive performance that can be captured through brief and easy-to-administer tasks of simple RT and choice RT. The current study aims to describe age-related differences in cognitive performance, toward better characterizing normative performance across the lifespan. We examined mean and variability of response times on a simple RT and choice RT tasks in a large and diverse web-based sample (10,060 visitors to TestMyBrain.org). We also examined lifespan-related differences in response time variability using multiple different approaches (raw variability, mean scaled variability, and mean residualized variability). These analyse…

0301 basic medicineAgingdigital neuropsychologyCoefficient of variationCognitive NeuroscienceSample (statistics)Standard deviationweblcsh:RC321-571Single measure03 medical and health sciences0302 clinical medicineStatisticsEffects of sleep deprivation on cognitive performanceSegmented regressionlcsh:Neurosciences. Biological psychiatry. Neuropsychiatrycognitive performanceMathematicsvariabilityBrief Research ReportMiddle age030104 developmental biologyMetric (unit)030217 neurology & neurosurgerylifespanNeuroscienceFrontiers in Aging Neuroscience
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Longevity-related molecular pathways are subject to midlife “switch” in humans

2019

Emerging evidence indicates that molecular aging may follow nonlinear or discontinuous trajectories. Whether this occurs in human neuromuscular tissue, particularly for the noncoding transcriptome, and independent of metabolic and aerobic capacities, is unknown. Applying our novel RNA method to quantify tissue coding and long noncoding RNA (lncRNA), we identified ~800 transcripts tracking with age up to ~60 years in human muscle and brain. In silico analysis demonstrated that this temporary linear “signature” was regulated by drugs, which reduce mortality or extend life span in model organisms, including 24 inhibitors of the IGF‐1/PI3K/mTOR pathway that mimicked, and 5 activators that oppos…

0301 basic medicineAgingved/biology.organism_classification_rank.speciesMuscle Fibers SkeletallihaksetTranscriptome0302 clinical medicineGene expressionGene Regulatory NetworksRNA-Seqmedia_commonCerebral CortexNeuronsreactive oxygen speciesihoTOR Serine-Threonine Kinasesmitochondrial complex 1LongevityBrainNon-coding RNAAlzheimer'sECSITCell biologytranskriptio (biologia)mTORRNA Long NoncodingOriginal ArticleaivotSignal TransductionAdultTranscriptional ActivationskinIn silicomedia_common.quotation_subjectLongevityBiology03 medical and health sciencesHumanslong noncoding RNAskeletal muscleModel organismGeneSirolimusved/biologyagingRNACell BiologyTwins MonozygoticOriginal Articles030104 developmental biologyikääntyminenRNATranscriptome030217 neurology & neurosurgery
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