0000000000684454

AUTHOR

Concetta Micalizzi

showing 4 related works from this author

A single high dose of idarubicin combined with high-dose ARA-C for treatment of first relapse in childhood ‘high-risk’ acute lymphoblastic leukaemia:…

2002

The outcome of children with acute lymphoblastic leukaemia (ALL) and early relapse remains unsatisfactory. In January 1995, the AIEOP (Associazione Italiana di Oncologia ed Ematologia Pediatrica) group opened a trial for children with ALL in first isolated or combined bone marrow relapse defined at high risk according to the length of first remission and the immunophenotype. The treatment plan included the combination of a single high-dose idarubicin and high-dose cytarabine as induction therapy followed by an intensive consolidation and stem cell transplant (SCT). In total, 100 children from 16 Italian centres were enrolled; 80 out of the 99 evaluable patients (81%) achieved second complet…

medicine.medical_specialtyChemotherapybusiness.industrymedicine.drug_classmedicine.medical_treatmentHematologyHematopoietic stem cell transplantationmedicine.diseaseAntimetaboliteSurgerymedicine.anatomical_structureInternal medicineAcute lymphocytic leukemiaCytarabineMedicineIdarubicinBone marrowbusinessSurvival ratemedicine.drugBritish Journal of Haematology
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Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis

2006

Familial haemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous disorder characterised by constitutive defects in cellular cytotoxicity resulting in fever, hepatosplenomegaly and cytopenia, and the outcome is fatal unless treated by chemoimmunotherapy followed by haematopoietic stem‐cell transplantation. Since 1999, mutations in the perforin gene giving rise to this disease have been identified; however, these account only for 40% of cases. Lack of a genetic marker hampers the diagnosis, suitability for transplantation, selection of familial donors, identification of carriers, genetic counselling and prenatal diagnosis. Mutations in the Munc13–4 gene have recently been des…

EXPRESSIONMalePRF1AdolescentFHLBlotting WesternDNA Mutational AnalysisHepatosplenomegalyDONORSPrenatal diagnosisBiologymedicine.disease_causeLymphohistiocytosis HemophagocyticGeneticsmedicinePERFORIN GENE-MUTATIONSHumansUNC13DChildGenetics (clinical)Family HealthSPECTRUMHemophagocytic lymphohistiocytosisMutationCytopeniaMicroscopy ConfocalIDENTIFICATIONGenetic heterogeneityInfant NewbornCYTOTOXIC T-LYMPHOCYTESInfantMembrane Proteinsmedicine.diseaseBONE-MARROW-TRANSPLANTATIONTransplantationMicroscopy ElectronChild PreschoolMutationImmunologyFemalemedicine.symptomLetter to JMGT-Lymphocytes CytotoxicJournal of Medical Genetics
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Development and initial validation of the macrophage activation syndrome/primary hemophagocytic lymphohistiocytosis score, a diagnostic tool that dif…

2017

OBJECTIVE: To develop and validate a diagnostic score that assists in discriminating primary hemophagocytic lymphohistiocytosis (pHLH) from macrophage activation syndrome (MAS) related to systemic juvenile idiopathic arthritis. STUDY DESIGN: The clinical, laboratory, and histopathologic features of 362 patients with MAS and 258 patients with pHLH were collected in a multinational collaborative study. Eighty percent of the population was assessed to develop the score and the remaining 20% constituted the validation sample. Variables that entered the best fitted model of logistic regression were assigned a score, based on their statistical weight. The MAS/HLH (MH) score was made up with the i…

Male0301 basic medicineHemophagocyticLogistic regressionPediatricshemophagocytic syndrome0302 clinical medicine*diagnostic scoreDiagnosisMedicineCutoffChildprimary hemophagocytic lymphohistiocytosiLymphohistiocytosiseducation.field_of_studyprimary hemophagocytic lymphohistiocytosisPerinatology and Child Healthdiagnostic scoreQuartileSettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICAMacrophage activation syndromeChild Preschool*macrophage activation syndromeAbsolute neutrophil countFemale*primary hemophagocytic lymphohistiocytosisHumanmedicine.medical_specialtyAdolescentPopulationLymphohistiocytosis HemophagocyticDiagnosis Differential03 medical and health sciencesInternal medicineHumansPreschooleducation030203 arthritis & rheumatologyReceiver operating characteristicbusiness.industryInfantReproducibility of Resultsmedicine.diseaseSurgery030104 developmental biologydiagnostic score; hemophagocytic syndrome; macrophage activation syndrome; primary hemophagocytic lymphohistiocytosis; Adolescent; Child; Child Preschool; Diagnosis Differential; Female; Humans; Infant; Lymphohistiocytosis Hemophagocytic; Macrophage Activation Syndrome; Male; Reproducibility of Results; Pediatrics Perinatology and Child HealthMacrophage activation syndromeDifferentialPediatrics Perinatology and Child Health*hemophagocytic syndromeDifferential diagnosisbusiness
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Childhood high-risk acute lymphoblastic leukemia in first remission: results after chemotherapy or transplant from the AIEOP ALL 2000 study

2014

The outcome of high-risk (HR) Acute Lymphoblastic Leukemia (ALL) patients enrolled in AIEOP-BFM ALL 2000 study (NCT00613457) in Italy is described. Overall, 1999 Philadelphia negative ALL patients entered the study. HR criteria were: minimal residual disease (MRD) levels ≥10-3 at day 78 (HR-MRD), no complete remission (no-CR) at day 33, t(4;11) translocation, Prednisone Poor Response (PPR). Treatment (2 years) included protocol I, 3 polychemotherapy blocks, delayed intensification (protocol IIx2 or IIIx3), cranial radiotherapy, maintenance. 312 HR patients (15.6% of the total) had 5-year event-free survival (EFS) and overall survival (OS) of 58.9%(SE 2.8) and 68.9%(2.6). In hierarchical ord…

Malemedicine.medical_specialtyNeoplasm ResidualAdolescentmedicine.medical_treatmentImmunologyChromosomal translocationhigh riskacute lymphoblastic leukemiaHematopoietic stem cell transplantationBiochemistryGastroenterologyAdolescent; Antineoplastic Combined Chemotherapy Protocols; Child; Child Preschool; Combined Modality Therapy; Female; Hematopoietic Stem Cell Transplantation; Humans; Infant; Male; Neoplasm Residual; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Radiotherapy; Remission Induction; Treatment Outcome; Hematology; Biochemistry; Cell Biology; ImmunologyPrednisonehemic and lymphatic diseasesInternal medicineAntineoplastic Combined Chemotherapy Protocolshigh risk; acute lymphoblastic leukemiaHumansMedicineNeoplasmPreschoolChildChemotherapyAntineoplastic Combined Chemotherapy ProtocolRadiotherapybusiness.industryRemission InductionHematopoietic Stem Cell TransplantationInfantCell BiologyHematologyPrecursor Cell Lymphoblastic Leukemia-Lymphomamedicine.diseaseCombined Modality TherapyMinimal residual diseaseSurgeryClinical trialRadiation therapyTreatment OutcomeN/ASettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICAResidualChild PreschoolNeoplasmFemalebusinessHumanmedicine.drugBlood
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