Search results for "ROMA"

showing 10 items of 13919 documents

Modulation of premotor mirror neuron activity during observation of unpredictable grasping movements.

2004

Using transcranial magnetic stimulation, we explored the properties of premotor mirror neurons during the passive observation of a reaching-grasping movement in human subjects. Two different experiments were run using video-clips as visual stimuli. Video-clips showed a normally performed (control stimulus) or an anomalous reaching-grasping movement executed by delaying the time of the appearance of the maximal finger aperture (experiment 1), or substituting it with an unpredictable closure (experiment 2). Motor evoked potentials were recorded at different time-points during the observation of the video-clips. Profiles of cortical excitability were drawn and compared with the kinematic profi…

AdultMaleVisual perceptionNeural substratemedicine.medical_treatmentMovementKinematicsStimulus (physiology)Premotor cortexElectromagnetic FieldsmedicineHumansSensory cueMirror neuronNeuronsmirror neuron system primary motor cortex transcranial magnetic stimulationHand StrengthGeneral NeuroscienceMotor CortexEvoked Potentials MotorTranscranial magnetic stimulationmedicine.anatomical_structureRegression AnalysisFemalePsychologyNeurosciencePhotic StimulationThe European journal of neuroscience
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An assessment of the human nail plate pH.

2010

<i>Purpose of Study:</i> To measure the pH of the surface of healthy nail plates. <i>Procedures:</i> The surface pH of human fingernails and big toenails was measured in vivo using a skin pH meter. The influence of washing, anatomical site (fingers/toes), side (left/right), digit (digits 1–5) and gender was determined. The pH of the nail interior was also measured. <i>Results:</i> The pH of the nail plate surface was around 5, with toenails having a significantly higher pH than fingernails. Immediately after hand washing, the nail surface pH increased significantly, from pH 5.1 ± 0.4 to 5.3 ± 0.5. However, this was not sustained with time, and the pH retu…

AdultMaleWashingTape strippingPhysiologyNailDermatologyFingersYoung AdultmedicineHumansProspective Studiesskin and connective tissue diseasesAgedPharmacologyBaseline valuesChromatographyintegumentary systempHChemistryGenderGeneral MedicineAnatomyNail plateHydrogen-Ion ConcentrationMiddle AgedToesSurface phmedicine.anatomical_structureNailsSettore CHIM/09 - Farmaceutico Tecnologico ApplicativoNail (anatomy)FemaleSkin pharmacology and physiology
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Multiclonal Synovial T Cell Response toYersinia enterocoliticain Reactive Arthritis: TheYersinia61-kDa Heat-Shock Protein Is Not the Major Target Ant…

1993

The T cell response to bacterial antigens plays a major role in the pathogenesis of reactive arthritis (ReA) following enteric infections with Yersinia enterocolitica. To study the antigen specificity of the T cells at the site of inflammation, the response of cloned T cells from the synovial fluid of 2 patients with ReA to partially purified antigens of Yersinia enterocolitica was determined. The clones showed different patterns of response to various fractions, indicating a multiclonal response to Yersinia antigens, and these specificities differed in the 2 patients. Some T cells were specific for Y. enterocolitica; some cross-reacted with other enterobacteria. Proteins of 14 and 19 kDa c…

AdultMaleYersinia InfectionsT-LymphocytesT cellCross ReactionsBiologyYersiniaArthritis ReactiveMicrobiologyEpitopesAntigenHeat shock proteinProhibitinsSynovial FluidmedicineHumansImmunology and AllergyYersinia enterocoliticaChromatography High Pressure LiquidHeat-Shock ProteinsYersinia enterocoliticaAntigens BacterialImmunity CellularYersiniosismedicine.diseasebiology.organism_classificationInfectious Diseasesmedicine.anatomical_structureChromatography GelbacteriaElectrophoresis Polyacrylamide GelBacterial antigenSynovial membraneJournal of Infectious Diseases
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Value of the sperm deoxyribonucleic acid fragmentation level, as measured by the sperm chromatin dispersion test, in the outcome of in vitro fertiliz…

2005

To determine the prognostic value of sperm DNA fragmentation levels, as measured by the sperm chromatin dispersion (SCD) test, in predicting IVF and ICSI outcome.Double-blind prospective study.University-affiliated private IVF setting.A total of 85 couples undergoing infertility treatment with IVF/ICSI.Analysis of DNA fragmentation by the SCD test in 170 aliquots obtained from the ejaculate and from the processed semen used for assisted reproductive technologies (ART).Percentage of spermatozoa with fragmented DNA was statistically correlated with embryo quality and reproductive success.Fertilization rate was inversely correlated with DNA fragmentation (r = -0.245 P = .045). Higher DNA fragm…

AdultMaleZygotemedicine.medical_treatmentEmbryonic DevelopmentReproductive technologyDNA FragmentationFertilization in VitroBiologyIntracytoplasmic sperm injectionAndrologyPredictive Value of TestsPregnancymedicineHumansEmbryo ImplantationSperm Injections IntracytoplasmicFragmentation (cell biology)reproductive and urinary physiologyIn vitro fertilisationPronucleusurogenital systemObstetrics and GynecologySpermSpermatozoaChromatinBlastocystTreatment OutcomeReproductive MedicineFertilizationembryonic structuresDNA fragmentationFemaleEmbryo qualityCell NucleolusFertility and sterility
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CD146+ bone marrow osteoprogenitors increase in the advanced stages of primary myelofibrosis

2008

Abstract CD146+ bone marrow stromal cells have been recently recognized as clonogenic osteoprogenitors able to organize a complete hematopoietic microenvironment. In this study we used immunohistochemical analysis to investigate the contribution of CD146+ bone marrow osteoprogenitors to the stromal remodeling occurring in the different stages of primary myelofibrosis. We found that CD146+ cells sited at the abluminal side of the bone marrow vessels and branching among hematopoietic cells significantly increased in the advanced stages of primary myelofibrosis (p<0.001), paralleling the extent of fibrosis (r=0.916, p<0.0001) and the microvascular density (r=0.883, p<0.0001). Coherently with a…

AdultMalebone marrow stromal cellmedicine.medical_specialtyPathologyStromal cellAngiogenesisBone Marrow CellsCD146 AntigenBiologyMural cellInternal medicinemedicineHumansMyelofibrosisAgedCell ProliferationNeoplasm StagingAged 80 and overHematologyCD146; bone marrow stromal cells; primary myelofibrosisStem CellsHematologyMiddle Agedmedicine.diseaseHaematopoiesismedicine.anatomical_structureCD146Primary MyelofibrosisBrief ReportsFemaleBone marrowStem cell
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A novel role of the CX3CR1/CX3CL1 system in the cross-talk between chronic lymphocytic leukemia cells and tumor microenvironment

2011

Several chemokines/chemokine receptors such as CCR7, CXCR4 and CXCR5 attract chronic lymphocytic leukemia (CLL) cells to specific microenvironments. Here we have investigated whether the CX(3)CR1/CX(3)CL1 axis is involved in the interaction of CLL with their microenvironment. CLL cells from 52 patients expressed surface CX(3)CR1 and CX(3)CL1 and released constitutively soluble CX(3)CL1. One third of these were attracted in vitro by soluble CX(3)CL1. CX(3)CL1-induced phosphorylation of PI3K, Erk1/2, p38, Akt and Src was involved in induction of CLL chemotaxis. Leukemic B cells upregulated CXCR4 upon incubation with CX(3)CL1 and this was paralleled by increased chemotaxis to CXCL12. Akt phosp…

AdultMalechemokines; chronic lymphocytic leukemia (CLL); nurselike cells (NLCs); tumor microenvironmentCancer ResearchChemokineStromal cellChronic lymphocytic leukemiaCX3C Chemokine Receptor 1Antigens Differentiation MyelomonocyticchemokinesC-C chemokine receptor type 7Cell Communicationnurselike cells (NLCs)Chemokine receptorAntigens CDimmune system diseaseshemic and lymphatic diseaseschronic lymphocytic leukemia (CLL)medicineHumanstumor microenvironmentPhosphorylationAgedAged 80 and overTumor microenvironmentbiologyChemokine CX3CL1ChemistryChemotaxisHematologyMiddle Agedmedicine.diseaseLeukemia Lymphocytic Chronic B-CellCX(3)CR1/CX(3)CL1 systemCX(3)CR1/CX(3)CL1 system; chronic lymphocytic leukemia.LeukemiaHaematopoiesisOncologychronic lymphocytic leukemia.Cancer researchbiology.proteinFemaleReceptors ChemokineLymph NodesProto-Oncogene Proteins c-aktSignal TransductionLeukemia
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Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 &lt;i&gt;(NF1)&lt…

2006

Most patients with neurofibromatosis (NF1) are endowed with heterozygous mutations in the &lt;i&gt;NF1&lt;/i&gt; gene. Approximately 5% show an interstitial deletion of chromosome 17q11.2 (including &lt;i&gt;NF1&lt;/i&gt;) and in most cases also a more severe phenotype. Here we report on a 7-year-old girl with classical NF1 signs, and in addition mild overgrowth (97th percentile), relatively low OFC (10th–25th percentile), facial dysmorphy, hoarse voice, and developmental delay. FISH analysis revealed a 17q11.2 microdeletion as well as an unbalanced 7p;13q translocation leading to trisomy of the 7q36.3 subtelomeric region. The patient’s mother and grandmother who were phenotypically normal …

AdultMalecongenital hereditary and neonatal diseases and abnormalitiesNeurofibromatosesmedia_common.quotation_subjectBiologyCytogeneticsGene DuplicationGene duplicationGeneticsmedicineHumansGirlNeurofibromatosisneoplasmsMolecular BiologyGeneIn Situ Hybridization FluorescenceGenetics (clinical)Oligonucleotide Array Sequence AnalysisNeurofibromatosesmedia_commonGeneticsInfantChromosomeTelomereSubtelomeremedicine.diseaseeye diseasesnervous system diseasesChild PreschoolFemaleChromosome DeletionChromosomes Human Pair 7Chromosomes Human Pair 17Cytogenetic and Genome Research
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One

2019

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with complete penetrance but high variable expressivity. NF1 is caused by loss-of-function mutations in the NF1 gene, a negative regulator of the RAS-MAPK pathway. The NF1 gene has one of the highest mutation rates in human disorders, which may explain the outbreak of independent de novo variants in the same family. Here, we report the co-occurrence of pathogenic variants in the NF1 and SPRED1 genes in six families with NF1 and Legius syndrome, using next-generation sequencing. In five of these families, we observed the co-occurrence of two independent NF1 variants. All NF1 variants were classified as pathogenic, according to t…

AdultMalecongenital hereditary and neonatal diseases and abnormalitiesSPRED1Neurofibromatosis 1Neurofibromin 1AdolescentCafe-au-Lait Spotsneurofibromatosis type 1eye diseasesArticlenervous system diseasesPedigreeLegius syndromePhenotypeNF1MutationHumansFemalede novo variantChildneoplasmsAdaptor Proteins Signal TransducingGenes
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Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience

2007

This study reports the first evaluation of therapeutic response in Romanian patients with Gaucher disease type I, after therapy with Cerezyme recently became available in our country.24 patients (11-50 years) received Cerezyme 20-60 U/kg every two weeks for at least 18 months. Haemoglobin, platelet count, volume of the liver and spleen, plasma chitotriosidase and the severity score were assessed every 6 months; skeletal radiography and osteodensitometry were also monitored.Eleven patients were splenectomized before start of therapy. Eight patients had anaemia (mean haemoglobin 9.4 g/dl) and 14 patients, of whom 13 were without splenectomy, had thrombocytopenia (mean 65,692/mm3). Haemoglobin…

AdultMalecongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyPediatricsTime FactorsAdolescentBone diseasemedicine.medical_treatmentDiseaseWeight GainSeverity of Illness IndexHemoglobinsGeneticsmedicineHumansIn patientChildGenetics (clinical)ChemotherapyGaucher DiseasePlatelet CountRomaniabusiness.industryLiver DiseasesRomaniannutritional and metabolic diseasesAnemiaEnzyme replacement therapyMiddle Agedmedicine.diseaseCombined Modality TherapyThrombocytopeniaRecombinant Proteinslanguage.human_languageSurgeryHexosaminidasesTreatment OutcomeSplenomegalyQuality of LifeSplenectomylanguageGlucosylceramidaseFemaleBone DiseasesbusinessFollow-Up StudiesJournal of Inherited Metabolic Disease
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Human eyes do not need monochromatic aberrations for dynamic accommodation

2017

Purpose To determine if human accommodation uses the eye's own monochromatic aberrations to track dynamic accommodative stimuli. Methods Wavefront aberrations were measured while subjects monocularly viewed a monochromatic Maltese cross moving sinusoidally around 2D of accommodative demand with 1D amplitude at 0.2 Hz. The amplitude and phase (delay) of the accommodation response were compared to the actual vergence of the stimulus to obtain gain and temporal phase, calculated from wavefront aberrations recorded over time during experimental trials. The tested conditions were as follows: Correction of all the subject's aberrations except defocus (C); Correction of all the subject's aberratio…

AdultMaledirectional cuesgenetic structuresVisual AcuityRefraction Ocular01 natural sciencesdynamic accommodation010309 opticsYoung Adult03 medical and health sciences0302 clinical medicineOpticsmonochromatic aberrations0103 physical sciencesHumansWavefrontPhysicsdefocusbusiness.industryAccommodation OcularAstigmatismOriginal ArticlesConvergence Oculareye diseasesSensory SystemsOphthalmologySpherical aberrationAmplitude030221 ophthalmology & optometryFemaleOriginal Articlesense organsMonochromatic colorbusinessAccommodationPhotic StimulationOptometryOphthalmic and Physiological Optics
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