Mathieu Fiore
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View article: Expanded clinical, genetic, and biological spectrum of filaminopathies with hematological involvement.
Expanded clinical, genetic, and biological spectrum of filaminopathies with hematological involvement. Open
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View article: European Management of Glanzmann's Thrombasthenia: A Survey of Current Clinical Practice
European Management of Glanzmann's Thrombasthenia: A Survey of Current Clinical Practice Open
Introduction Glanzmann's thrombasthenia is a rare inherited platelet disorder characterized by a lack of platelet aggregation. Patients tend to be diagnosed in early childhood with treatment strategies involving a multifaceted approach to …
View article: Efficacy and safety of recombinant activated factor VII in Glanzmann thrombasthenia: A systematic literature review
Efficacy and safety of recombinant activated factor VII in Glanzmann thrombasthenia: A systematic literature review Open
Background Platelet transfusion is considered the standard treatment for preventing or controlling severe haemorrhage in Glanzmann thrombasthenia (GT). However, platelet transfusion can have detrimental effects, including the production of…
View article: Targeting tissue factor pathway inhibitor with concizumab to improve hemostasis in patients with Glanzmann thrombasthenia: an in vitro study
Targeting tissue factor pathway inhibitor with concizumab to improve hemostasis in patients with Glanzmann thrombasthenia: an in vitro study Open
View article: Association of laboratory test results with the bleeding history in patients with inherited platelet function disorders (the Bleeding Assesment Tool - LABoratory tests substudy): communication from the Platelet Physiology ISTH-SSC
Association of laboratory test results with the bleeding history in patients with inherited platelet function disorders (the Bleeding Assesment Tool - LABoratory tests substudy): communication from the Platelet Physiology ISTH-SSC Open
View article: In vitro characterization of rare anti-αIIbβ3 isoantibodies produced by patients with Glanzmann thrombasthenia that severely block fibrinogen binding and generate procoagulant platelets via complement activation
In vitro characterization of rare anti-αIIbβ3 isoantibodies produced by patients with Glanzmann thrombasthenia that severely block fibrinogen binding and generate procoagulant platelets via complement activation Open
View article: PB1374 Anti-ɑIIbβ3 Antibodies in Glanzmann Thrombasthenia Patients may Generate Procoagulant Platelets by Complement Activation
PB1374 Anti-ɑIIbβ3 Antibodies in Glanzmann Thrombasthenia Patients may Generate Procoagulant Platelets by Complement Activation Open
View article: Emergency management of patients with Glanzmann thrombasthenia: consensus recommendations from the French reference center for inherited platelet disorders
Emergency management of patients with Glanzmann thrombasthenia: consensus recommendations from the French reference center for inherited platelet disorders Open
Glanzmann thrombasthenia (GT) is a genetic bleeding disorder characterised by severely reduced/absent platelet aggregation in response to multiple physiological agonists. The severity of bleeding in GT varies markedly, as does the emergenc…
View article: Multicenter evaluation of light transmission platelet aggregation reagents: communication from the ISTH SSC Subcommittee on Platelet Physiology
Multicenter evaluation of light transmission platelet aggregation reagents: communication from the ISTH SSC Subcommittee on Platelet Physiology Open
View article: Combined Platelet and Red Blood Cell Recovery during On-pump Cardiac Surgery Using same™ by i-SEP Autotransfusion Device: A First-in-human Noncomparative Study (i-TRANSEP Study)
Combined Platelet and Red Blood Cell Recovery during On-pump Cardiac Surgery Using same™ by i-SEP Autotransfusion Device: A First-in-human Noncomparative Study (i-TRANSEP Study) Open
Background Centrifugation-based autotransfusion devices only salvage red blood cells while platelets are removed. The same™ device (Smart Autotransfusion for ME; i-SEP, France) is an innovative filtration-based autotransfusion device able …
View article: Platelet function studies in myeloproliferative neoplasms patients with Calreticulin or JAK2V617F mutation
Platelet function studies in myeloproliferative neoplasms patients with Calreticulin or JAK2V617F mutation Open
View article: How I manage pregnancy in women with Glanzmann thrombasthenia
How I manage pregnancy in women with Glanzmann thrombasthenia Open
Glanzmann thrombasthenia (GT) is a rare inherited platelet function disorder caused by a quantitative and/or qualitative defect of the αIIbβ3 integrin. Pregnancy and delivery are recognized risk periods for bleeding in women with GT. The n…
View article: A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction Open
View article: The ISTH bleeding assessment tool as predictor of bleeding events in inherited platelet disorders: Communication from the ISTH SSC Subcommittee on Platelet Physiology
The ISTH bleeding assessment tool as predictor of bleeding events in inherited platelet disorders: Communication from the ISTH SSC Subcommittee on Platelet Physiology Open
View article: Evaluation of the potential utility of the total thrombus‐formation analysis system in comparison to the platelet function analyser in subjects with primary haemostatic defects
Evaluation of the potential utility of the total thrombus‐formation analysis system in comparison to the platelet function analyser in subjects with primary haemostatic defects Open
International audience
View article: BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome
BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome Open
View article: High prevalence of the natural Asn89Asp mutation in the <i>GP1BB</i> gene associated with Bernard–Soulier syndrome in French patients from the genetic isolate of Reunion Island
High prevalence of the natural Asn89Asp mutation in the <i>GP1BB</i> gene associated with Bernard–Soulier syndrome in French patients from the genetic isolate of Reunion Island Open
International audience
View article: Validation of the ISTH/SSC bleeding assessment tool for inherited platelet disorders: A communication from the Platelet Physiology SSC
Validation of the ISTH/SSC bleeding assessment tool for inherited platelet disorders: A communication from the Platelet Physiology SSC Open
View article: First description of an IgM monoclonal antibody causing αIIbβ3 integrin activation and acquired Glanzmann thrombasthenia associated with macrothrombocytopenia
First description of an IgM monoclonal antibody causing αIIbβ3 integrin activation and acquired Glanzmann thrombasthenia associated with macrothrombocytopenia Open
View article: Anti‐α<sub>IIb</sub>β<sub>3</sub> immunization in Glanzmann thrombasthenia: review of literature and treatment recommendations
Anti‐α<sub>IIb</sub>β<sub>3</sub> immunization in Glanzmann thrombasthenia: review of literature and treatment recommendations Open
Summary Glanzmann thrombasthenia ( GT ) is caused by inherited defects of the α II b β 3 platelet glycoprotein. This bleeding disorder can be treated with platelet transfusion therapy, but some patients will be immunized and begin to form …
View article: Assessment of light transmission aggregometry on the routine coagulation analyzer Sysmex CS-2500 using CE-marked agonists from Hyphen Biomed
Assessment of light transmission aggregometry on the routine coagulation analyzer Sysmex CS-2500 using CE-marked agonists from Hyphen Biomed Open
Light transmission aggregometry (LTA) is still considered as the “gold standard” for platelet function assessment but, as acompletely manual technology, it is labour intensive. This challenge can be overcome by performing platelet aggregom…
View article: Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.
Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors. Open
Variants in ETV6, which encodes a transcription repressor of the E26 transformation-specific family, have recently been reported to be responsible for inherited thrombocytopenia and hematologic malignancy. We sequenced the DNA from cases w…
View article: Germline variants in <i>ETV6</i> underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34 <sup>+</sup> progenitors
Germline variants in <i>ETV6</i> underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34 <sup>+</sup> progenitors Open
Variants in ETV6, which encodes a transcription repressor of the E26 transformation-specific family, have recently been reported to be responsible for inherited thrombocytopenia and hematologic malignancy. We sequenced the DNA from cases w…
View article: Clinical and Laboratory Findings in Patients with δ-Storage Pool Disease: A Case Series
Clinical and Laboratory Findings in Patients with δ-Storage Pool Disease: A Case Series Open
Platelet δ-storage pool disease (δ-SPD) is a platelet function disorder characterized by a reduction in the number or content of dense granules. Reports on δ-SPD are mostly limited to case presentations. We aimed to retrospectively describ…
View article: L’intégrine α<sub>IIb</sub>β<sub>3</sub>
L’intégrine α<sub>IIb</sub>β<sub>3</sub> Open
In recent years, the understanding of the molecular mechanisms involved in platelet production (megakaryopoiesis) has extremely increased, thanks to the study of genetic diseases causing inherited thrombocytopenia. Among the wide variety o…
View article: A diagnostic approach that may help to discriminate inherited thrombocytopenia from chronic immune thrombocytopenia in adult patients
A diagnostic approach that may help to discriminate inherited thrombocytopenia from chronic immune thrombocytopenia in adult patients Open
Inherited thrombocytopenia (IT) is a heterogeneous group of rare diseases that are often confused with immune thrombocytopenia (ITP). The objective of this study was to supply clinicobiological elements that allow a distinction to be drawn…
View article: Phenotypic characterization of a patient with Glanzmann Thrombasthenia caused by a novel homozygous mutation in the ITGA2B gene
Phenotypic characterization of a patient with Glanzmann Thrombasthenia caused by a novel homozygous mutation in the ITGA2B gene Open
View article: Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the<i>ITGA2B</i>and<i>ITGB3</i>Genes in a Large International Cohort
Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the<i>ITGA2B</i>and<i>ITGB3</i>Genes in a Large International Cohort Open
International audience