Search results for "Hematologi"

showing 10 items of 194 documents

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

2017

IF 3.326; International audience; Kabuki syndrome (KS-OMIM 147920) is a rare developmental disease characterized by the association of multiple congenital anomalies and intellectual disability. This study aimed to investigate intellectual performance in children with KS and link the performance to several clinical features and molecular data. We recruited 31 children with KMT2D mutations who were 6 to 16 years old. They all completed the Weschler Intelligence Scale for Children, fourth edition. We calculated all indexes: the Full Scale Intellectual Quotient (FSIQ), Verbal Comprehension Index (VCI), Perceptive Reasoning Index (PRI), Processing Speed Index (PSI), and Working Memory Index (WMI…

0301 basic medicineMaleAdolescentVisual impairmentDNA Mutational AnalysisIntelligenceneuropsychologyDisease[SDV.GEN] Life Sciences [q-bio]/GeneticsNeuropsychological Testsgenotype-phenotype correlation03 medical and health sciencesIntensive careIntellectual disabilityGene OrderGeneticsmedicineHumansAbnormalities MultipleChildKMT2D mutationGenetics (clinical)AllelesGenetic Association Studies[SDV.GEN]Life Sciences [q-bio]/GeneticsKabuki syndromebusiness.industryWorking memoryNeuropsychologyWechsler Adult Intelligence Scalemedicine.diseaseHematologic Diseases3. Good healthNeoplasm ProteinsDNA-Binding Proteins030104 developmental biologyPhenotypeVestibular DiseasesGenetic LociFaceMutationFemalemedicine.symptombusinessKabuki syndromeClinical psychology
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Use of Cardioprotective Dexrazoxane Is Associated with Increased Myelotoxicity in Anthracycline-Treated Soft-Tissue Sarcoma Patients

2019

<b><i>Background:</i></b> Dexrazoxane (DEX) is indicated as a cardioprotective agent for breast cancer patients receiving the anthracycline doxorubicin. Two meta-analyses in metastatic breast cancer reported an apparent increase in the severity of myelosuppression when DEX was used. So far, no data in soft-tissue sarcoma (STS) patients are available. <b><i>Methods:</i></b> We retrospectively analyzed hematological toxicity data from 133 consecutive STS patients who received a chemotherapy regimen containing an anthracycline and ifosfamide (AI) in the perioperative or metastatic settings between January 2006 and December 2017. Of these, 46 rece…

0301 basic medicineMaleAnthracyclineGastroenterology0302 clinical medicineMyelotoxicityRetrospective StudieDrug DiscoveryMedicinePharmacology (medical)AnthracyclinesSoft tissue sarcomaLeukopeniaIfosfamideAntibiotics AntineoplasticSarcomaGeneral MedicineMiddle AgedChemotherapy regimenInfectious DiseasesOncologyBone marrow suppression030220 oncology & carcinogenesisFemalemedicine.symptommedicine.drugHumanAdultmedicine.medical_specialtyNeutropeniaAnthracycline030106 microbiologyNeutropeniaProtective Agents03 medical and health sciencesYoung AdultInternal medicineHumansDexrazoxaneProtective AgentRetrospective StudiesAgedPharmacologybusiness.industryHematologic Diseasemedicine.diseaseHematologic DiseasesDexrazoxanebusinessFebrile neutropenia
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Transfer of minimally manipulated CMV-specific T cells from stem cell or third-party donors to treat CMV infection after allo-HSCT.

2017

Cytomegalovirus (CMV) infection is a common, potentially life-threatening complication following allogeneic hematopoietic stem cell transplantation (allo-HSCT). We assessed prospectively the safety and efficacy of stem cell-donor-or third-party-donor-derived CMV-specific T cells for the treatment of persistent CMV infections after allo-HSCT in a phase I/IIa trial. Allo-HSCT patients with drugrefractory CMV infection and lacking virus-specific T cells were treated with a single dose of ex vivo major histocompatibility complex-Streptamer-isolated CMV epitope-specific donor T cells. Forty-four allo-HSCT patients receiving a T-cell-replete (D+ repl; n = 28) or T-cell-depleted (D+ depl; n = 16) …

0301 basic medicineMaleCancer ResearchAdoptive cell transfermedicine.medical_treatmentT-LymphocytesCytomegalovirusT-Cell Antigen Receptor SpecificityHuman leukocyte antigenHematopoietic stem cell transplantationAntiviral AgentsImmunotherapy AdoptiveLymphocyte Depletion03 medical and health sciencesImmunocompromised HostDrug Resistance ViralmedicineHumansProspective StudiesViremiabusiness.industryGraft SurvivalHematopoietic Stem Cell Transplantationvirus diseasesHematologyImmunotherapyAllograftsVirologyTissue DonorsHistocompatibilityTransplantationHaematopoiesis030104 developmental biologyOncologyHematologic NeoplasmsHistocompatibilityMyelodysplastic SyndromesImmunologyCytomegalovirus InfectionsFemaleStem cellbusiness
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Ibrutinib, obinutuzumab, and venetoclax in relapsed and untreated patients with mantle cell lymphoma: a phase 1/2 trial.

2020

Abstract Ibrutinib, obinutuzumab, and venetoclax demonstrate synergy in preclinical models of mantle cell lymphoma (MCL). OAsIs (NCT02558816), a single-arm multicenter prospective phase 1/2 trial, aimed to determine the maximum tolerated dose of venetoclax in combination with fixed doses of ibrutinib and obinutuzumab, in relapsed MCL patients. At the venetoclax MTD, extension cohorts were opened for relapsed and untreated patients. Safety and efficacy were secondary objectives. Minimal residual disease (MRD) was assessed by allele-specific oligonucleotide quantitative polymerase chain reaction. Between 14 October 2015 and 29 May 2018, 48 patients were enrolled. No dose-limiting toxicity was…

0301 basic medicineMaleNeoplasm Residualmedicine.medical_treatmentImmunoglobulin Variable RegionHematopoietic stem cell transplantationKaplan-Meier EstimateLymphoma Mantle-CellBiochemistryGastroenterologychemistry.chemical_compound0302 clinical medicinePiperidinesObinutuzumabAntineoplastic Combined Chemotherapy ProtocolsProspective StudiesProspective cohort studyAged 80 and overSulfonamidesHematopoietic Stem Cell TransplantationHematologyMiddle AgedCombined Modality TherapyProgression-Free Survival3. Good healthTreatment Outcome030220 oncology & carcinogenesisIbrutinibFemaleImmunoglobulin Heavy Chainsmedicine.medical_specialtyMaximum Tolerated DoseImmunologyAntibodies Monoclonal Humanized03 medical and health sciencesInternal medicinemedicineHumansProgression-free survivalAgedVenetoclaxbusiness.industryAdenineCell Biologymedicine.diseaseBridged Bicyclo Compounds HeterocyclicGenes p53Minimal residual diseaseHematologic Diseases030104 developmental biologychemistryMutationMantle cell lymphomabusinessFollow-Up StudiesBlood
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Prevalence and Etiology of Community-acquired Pneumonia in Immunocompromised Patients

2018

Abstract Background The correct management of immunocompromised patients with pneumonia is debated. We evaluated the prevalence, risk factors, and characteristics of immunocompromised patients coming from the community with pneumonia. Methods We conducted a secondary analysis of an international, multicenter study enrolling adult patients coming from the community with pneumonia and hospitalized in 222 hospitals in 54 countries worldwide. Risk factors for immunocompromise included AIDS, aplastic anemia, asplenia, hematological cancer, chemotherapy, neutropenia, biological drug use, lung transplantation, chronic steroid use, and solid tumor. Results At least 1 risk factor for immunocompromis…

0301 basic medicineMalePediatricsEtiologyMultidrug-resistant pathogenMRSAPneumocystis pneumoniaPneumònia adquirida a la comunitatHOSPITALIZED-PATIENTS0302 clinical medicineCommunity-acquired pneumoniaRisk FactorsPrevalenceMedicine030212 general & internal medicinePNEUMOCYSTIS PNEUMONIAArticles and CommentariesAged 80 and overRespiratory tract infectionsAnemia AplasticMiddle Aged3. Good healthCommunity-Acquired InfectionsEuropeInfectious DiseasesImmunocompromise; Microbiology; MRSA; Multidrug-resistant pathogens; PneumoniaEtiologiaHematologic NeoplasmsFemaleBLOOD-STREAM INFECTIONSLung TransplantationMicrobiology (medical)medicine.medical_specialtyAsiaNeutropeniaCommunity-acquired pneumonia030106 microbiologyRESPIRATORY-TRACT INFECTIONSHematologic NeoplasmsSettore MED/10 - Malattie Dell'Apparato RespiratorioTRANSPLANT RECIPIENTSDISEASES-SOCIETYMicrobiology03 medical and health sciencesImmunocompromised HostPneumonia BacterialMANAGEMENTHumanspneumoniaBACTERIAL PNEUMONIAImmunocompromiseAgedAcquired Immunodeficiency Syndromebusiness.industrymicrobiologyBacterial pneumoniaAustraliaPneumoniamedicine.diseaseMultidrug-resistant pathogensPneumoniamultidrug-resistant pathogensMycosesBacteremiaAfricaEtiologyRISK-FACTORSimmunocompromiseAmericasbusinessClinical Infectious Diseases
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Identifying Prognostic SNPs in Clinical Cohorts: Complementing Univariate Analyses by Resampling and Multivariable Modeling

2016

Clinical cohorts with time-to-event endpoints are increasingly characterized by measurements of a number of single nucleotide polymorphisms that is by a magnitude larger than the number of measurements typically considered at the gene level. At the same time, the size of clinical cohorts often is still limited, calling for novel analysis strategies for identifying potentially prognostic SNPs that can help to better characterize disease processes. We propose such a strategy, drawing on univariate testing ideas from epidemiological case-controls studies on the one hand, and multivariable regression techniques as developed for gene expression data on the other hand. In particular, we focus on …

0301 basic medicineMultivariate analysisMicroarraysTest StatisticsGene Expressionlcsh:MedicineBioinformatics01 natural sciencesHematologic Cancers and Related DisordersCohort Studies010104 statistics & probabilityMathematical and Statistical TechniquesResamplingMedicine and Health Scienceslcsh:ScienceStatistical DataUnivariate analysisMultidisciplinarySimulation and ModelingMultivariable calculusRegression analysisHematologyMyeloid LeukemiaPrognosisRegressionBioassays and Physiological AnalysisOncologyResearch DesignPhysical SciencesStatistics (Mathematics)Research ArticleAcute Myeloid LeukemiaPermutationSingle-nucleotide polymorphismComputational biologyBiologyResearch and Analysis MethodsPolymorphism Single Nucleotide03 medical and health sciencesLeukemiasGeneticsHumansStatistical Methods0101 mathematicsDiscrete Mathematicslcsh:RUnivariateCancers and NeoplasmsBiology and Life SciencesModels Theoretical030104 developmental biologyCombinatoricsCase-Control StudiesMultivariate Analysislcsh:QMathematicsPLOS ONE
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Immune checkpoint inhibition therapy for advanced skin cancer in patients with concomitant hematological malignancy: a retrospective multicenter DeCO…

2020

BackgroundSkin cancers are known for their strong immunogenicity, which may contribute to a high treatment efficacy of immune checkpoint inhibition (ICI). However, a considerable proportion of patients with skin cancer is immuno-compromised by concomitant diseases. Due to their previous exclusion from clinical trials, the ICI treatment efficacy is poorly investigated in these patients. The present study analyzed the ICI treatment outcome in advanced patients with skin cancer with a concomitant hematological malignancy.MethodsThis retrospective multicenter study included patients who were treated with ICI for locally advanced or metastatic melanoma (MM), cutaneous squamous cell carcinoma (cS…

0301 basic medicineOncologyMaleCancer Researchmedicine.medical_specialtySkin Neoplasms2435medicine.medical_treatmentChronic lymphocytic leukemiaImmunologyMedizin03 medical and health sciences0302 clinical medicineInternal medicinemedicinemelanomaImmunology and AllergyHumans1506Immune Checkpoint InhibitorsRC254-282AgedRetrospective StudiesPharmacologyClinical/Translational Cancer ImmunotherapyMerkel cell carcinomabusiness.industryMelanomaNeoplasms. Tumors. Oncology. Including cancer and carcinogensImmunotherapyMiddle Agedmedicine.diseaseSurvival AnalysisLymphoma030104 developmental biologyOncology030220 oncology & carcinogenesisConcomitantHematologic NeoplasmsMolecular MedicineFemaleImmunotherapySkin cancerbusinessProgressive diseaseJournal for Immunotherapy of Cancer
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Impact of Donor Activating KIR Genes on HSCT Outcome in C1-Ligand Negative Myeloid Disease Patients Transplanted with Unrelated Donors-A Retrospectiv…

2017

Natural Killer cells (NK) are lymphocytes with the potential to recognize and lyse cells which escaped T-cell mediated lysis due to their aberrant HLA expression profiles. Killer cell immunoglobulin-like receptors (KIR) influence NK-cell activity by mediation of activating or inhibitory signals upon interaction with HLA-C (C1, C2) ligands. Therefore, absence of ligands for donor inhibitory KIRs following hematopoietic stem cell transplantation (HSCT) may have an influence on its outcome. Previous studies showed that C1 negative patients have a decreased HSCT outcome. Our study, based on a cohort of 200 C1-negative patients, confirmed these findings for the endpoints: overall survival (OS: H…

0301 basic medicineOncologyMaleMyeloidCell Transplantationmedicine.medical_treatmentlcsh:MedicineHematopoietic stem cell transplantationNK cellsLigandsCohort StudiesWhite Blood Cells0302 clinical medicineMathematical and Statistical TechniquesReceptors KIRCell SignalingComplement C1Animal CellsMedicine and Health SciencesBlood and Lymphatic System ProceduresMembrane Receptor SignalingReceptorlcsh:ScienceBone Marrow TransplantationMultidisciplinaryT CellsIncidence (epidemiology)Hematopoietic Stem Cell TransplantationMiddle AgedImmune Receptor Signaling3. Good healthKiller Cells Naturalmedicine.anatomical_structureTreatment OutcomeHematologic NeoplasmsCohortPhysical SciencesFemaleCellular TypesUnrelated DonorsStatistics (Mathematics)Research ArticleSignal TransductionAdultmedicine.medical_specialtyAdolescentImmune CellsImmunologySurgical and Invasive Medical ProceduresResearch and Analysis Methods03 medical and health sciencesYoung AdultInternal medicinemedicineConfidence IntervalsHumansClinical significanceddc:610Statistical MethodsAgedRetrospective StudiesTransplantationBlood Cellsbusiness.industrylcsh:RBiology and Life SciencesRetrospective cohort studyCell BiologyMultivariate analysis; Stem cell transplantation; T cells; Bone marrow transplantation; NK cells; Hematopoietic stem cell transplantation; Immune receptor signalingTransplantation030104 developmental biologyImmunologyMultivariate Analysislcsh:QbusinessMathematics030215 immunologyStem Cell TransplantationPLoS ONE
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Dissection of DLBCL microenvironment provides a gene expression-based predictor of survival applicable to formalin-fixed paraffin-embedded tissue

2018

Abstract Background Gene expression profiling (GEP) studies recognized a prognostic role for tumor microenvironment (TME) in diffuse large B-cell lymphoma (DLBCL), but the routinely adoption of prognostic stromal signatures remains limited. Patients and methods Here, we applied the computational method CIBERSORT to generate a 1028-gene matrix incorporating signatures of 17 immune and stromal cytotypes. Then, we carried out a deconvolution on publicly available GEP data of 482 untreated DLBCLs to reveal associations between clinical outcomes and proportions of putative tumor-infiltrating cell types. Forty-five genes related to peculiar prognostic cytotypes were selected and their expression …

0301 basic medicineOncologyMalePathologyHematologic MalignanciesBiopsyDatasets as TopicPredictive Value of TestDeconvolutionCohort StudiesTranscriptomeAntibodies Monoclonal Murine-Derived0302 clinical medicineprognosticatorsimmune system diseaseshemic and lymphatic diseasesTumor MicroenvironmentCluster Analysisdigital expression analysisRandomized Controlled Trials as TopicParaffin EmbeddingHematology; OncologyHematologyMiddle AgedPrognosisCorrigendaProgression-Free SurvivalAlgorithmOncology030220 oncology & carcinogenesisCell-of-originFemaleLymphoma Large B-Cell DiffuseSurvival AnalysiAlgorithmsHumanAdultmedicine.medical_specialtyStromal cellMicroenvironmentFormalin fixed paraffin embeddedPrognosiReproducibility of ResultDissection (medical)03 medical and health sciencesDigital expression analysiYoung AdultPrognosticatorPredictive Value of TestsFormaldehydeInternal medicinemedicineHumansProgression-free survivalGeneSurvival analysisAgedTumor microenvironmentCluster AnalysiProportional hazards modelbusiness.industryGene Expression ProfilingReproducibility of ResultsComputational BiologyOriginal Articlesmedicine.diseaseSurvival AnalysisGene expression profiling030104 developmental biologyDLBCLCohort StudieTranscriptomebusinessDiffuse large B-cell lymphomaDLBCL microenvironment deconvolution cell-of-origin digital expression analysis prognosticators
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New Perspectives in the Treatment of Advanced Gastric Cancer: S-1 as a Novel Oral 5-FU Therapy in Combination with Cisplatin

2015

Oral fluoropyrimidines have been available for more than 10 years. Capecitabine is well established in treating solid tumors in Europe. S-1 (Teysuno®), an oral formulation containing the 5-fluorouracil (5-FU) prodrug tegafur and the two enzyme modulators gimeracil and oteracil, has not been available in non-Asia countries until recently. In Japan, S-1 in combination with cisplatin is the recommended first-line treatment in patients with gastric cancer. In Europe, the first trials with S-1 were disappointing due to high unacceptable incidences of adverse events. Pharmacokinetic studies showed differences in Asian and Caucasian patients; therefore, a new non-Asian study program was initiated,…

0301 basic medicineOncologymedicine.medical_specialtyAdministration OralAntineoplastic AgentsTegafurCapecitabine03 medical and health sciences0302 clinical medicineStomach NeoplasmsInternal medicineDrug DiscoverymedicineClinical endpointHumansPharmacology (medical)Survival rateNeoplasm StagingPharmacologyCisplatinbusiness.industryCancerGeneral Medicinemedicine.diseaseHematologic DiseasesSurvival Rate030104 developmental biologyInfectious DiseasesOncologyTolerability030220 oncology & carcinogenesisDrug Therapy CombinationFluorouracilCisplatinbusinessmedicine.drugTegafur/gimeracil/oteracilChemotherapy
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