0000000000745771

AUTHOR

Maciej Machaczka

showing 4 related works from this author

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease

2018

Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of the condition and, as a consequence, many patients show a modified phenotype which reflects manifestations of their disease that are refractory to treatment. More generally, it is increasingly recognised that information as to how a patient feels and functions [obtained by patient- reported outcome measurements (PROMs)] is critical to any comprehensive evaluation of treatment. A new set of management goals for GD1 in which both trends are reflected is needed. To this end, a modified Delphi procedure among 25 experts was performed. Based on a literature review and …

0301 basic medicinemedicine.medical_specialtyConsensusDelphi study; Gaucher disease; Management goals; PROMs; TherapyDelphi methodEarly detectionGaucher diseaseDiseasePROMs03 medical and health sciences0302 clinical medicineQuality of life (healthcare)HumansMedicineIntensive care medicineSet (psychology)Molecular BiologyComputingMilieux_MISCELLANEOUSManagement goalsbusiness.industryDisease ManagementType 1 Gaucher DiseaseExpert consensus[SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/HematologyCell BiologyHematologySocial engagementDelphi study3. Good healthEurope030104 developmental biology030220 oncology & carcinogenesisQuality of LifePhysical therapyMolecular MedicineTherapybusinessBlood Cells, Molecules, and Diseases
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Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.

2019

Background: Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognise the early stages of GD owing to a lack of disease awareness, which can lead to significant diagnostic delays and sometimes irreversible but avoidable morbidities. Aim: The Gaucher Earlier Diagnosis Consensus (GED-C) initiative aimed to identify signs and co-variables considered most indicative of early type 1 and type 3 GD, to help non-specialists identify ‘at-risk’ patients who may benefit from diagnostic testing. Methods: An anonymous, three-round Delphi consensus process was deployed among a global panel of 22 specialists in GD (median experience 17.5 years, collectively managin…

Delphi TechniqueDisease outcomethrombocytopeniaMedicina Clínica030204 cardiovascular system & hematology0302 clinical medicine//purl.org/becyt/ford/3.2 [https]Lysosomal storage disease030212 general & internal medicinecomputer.programming_languageGaucher Malaltia de:Ciencias de la información::análisis de sistemas::técnica Delfos [CIENCIA DE LA INFORMACIÓN]lysosomal storage diseaseINBORN ERROR:Information Science::Systems Analysis::Delphi Technique [INFORMATION SCIENCE]Original Article//purl.org/becyt/ford/3 [https]Corrigendum:Diagnosis::Early Diagnosis [ANALYTICAL DIAGNOSTIC AND THERAPEUTIC TECHNIQUES AND EQUIPMENT]medicine.medical_specialtyCIENCIAS MÉDICAS Y DE LA SALUDSPLENOMEGALYConsensusPrognosiLYSOSOMAL STORAGE DISEASEMETABOLISMinborn error03 medical and health sciencesPhysiciansInternal MedicinemedicineHumansHematologíaALGORITHM:enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebrales metabólicas::enfermedades cerebrales metabólicas congénitas::enfermedades por almacenamiento lisosómico del sistema nervioso::esfingolipidosis::enfermedad de Gaucher [ENFERMEDADES]splenomegalyalgorithmGaucher Diseasebusiness.industryTHROMBOCYTOPENIA:Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Brain Diseases Metabolic::Brain Diseases Metabolic Inborn::Lysosomal Storage Diseases Nervous System::Sphingolipidoses::Gaucher Disease [DISEASES]Original Articlesmedicine.disease:diagnóstico::diagnóstico precoz [TÉCNICAS Y EQUIPOS ANALÍTICOS DIAGNÓSTICOS Y TERAPÉUTICOS]Early DiagnosisFamily medicinebusinessmetabolismcomputerDelphiInternal medicine journal
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Early access experience with VPRIV®: Recommendations for ‘core data’ collection

2011

Pathologymedicine.medical_specialtyGaucher DiseaseData collectionProcess managementbusiness.industryData CollectionCell BiologyHematologyRecombinant ProteinsCell LineCore (game theory)Practice Guidelines as TopicGlucosylceramidaseHumansMolecular MedicineMedicineEnzyme Replacement TherapybusinessMolecular BiologyBlood Cells, Molecules, and Diseases
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Centre characteristics and procedure-related factors have an impact on outcomes of allogeneic transplantation for patients with CLL: a retrospective …

2017

Abstract Introduction:Even in the era of novel targeted therapies for the treatment of Chronic Lymphocytic Leukemia (CLL) patients, such as BTK, PI3K and BCL2 inhibitors, allogeneic hematopoietic stem cell transplantations (alloHCT) will remain an important treatment option for a subset of patients with very high risk CLL. The current study focused on the impact of center and procedure-related factors on outcomes after alloHCT, taking into account the impact of patient- and disease-related risk factors. Patients and Methods:Data of 684 CLL patients who received a first alloHCT between 2000 and 2011 were analyzed. Their data were collected as part of the EBMT CLL Data Quality Initiative. Out…

OncologyMaleTransplantation ConditioningCancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2]Chronic lymphocytic leukemiaMedizinQUALITY MANAGEMENT-SYSTEMKaplan-Meier Estimaterisk factor analysisGUIDELINESBiochemistryallogeneic stem cell transplantation; centre effects; chronic lymphocytic leukaemia; frailties; risk factor analysiscentre effectsTransplantation Conditioning / methods0302 clinical medicineRecurrenceRisk Factorsallogeneic stem cell transplantationLeukemia Lymphocytic Chronic B-Cell / mortalityRegistriesDelivery of Health Care / statistics & numerical dataIBRUTINIBddc:6160303 health sciencesALEMTUZUMABHazard ratioHematopoietic Stem Cell TransplantationProfessional PracticeHematologyMiddle Aged3. Good healthEurope030220 oncology & carcinogenesisABT-199CohortSURVIVALAlemtuzumabFemaleEurope / epidemiologymedicine.drugAdultmedicine.medical_specialtyAllogeneic transplantationImmunologyLower riskDIAGNOSISSettore MED/01 - Statistica Medica03 medical and health sciencesLeukemia Lymphocytic Chronic B-Cell / therapyHematopoietic Stem Cell Transplantation / methodsInternal medicinemedicineHumansKarnofsky Performance Status030304 developmental biologyAgedRetrospective Studiesbusiness.industryProportional hazards modelCHRONIC LYMPHOCYTIC-LEUKEMIARetrospective cohort studySTEM-CELL TRANSPLANTATIONCell Biologymedicine.diseaseLeukemia Lymphocytic Chronic B-CellConfidence intervalSurgeryProfessional Practice / statistics & numerical dataTransplantationbusinessDelivery of Health Carefrailtieschronic lymphocytic leukaemia030215 immunologyRESPONSES
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