Loredana Bury

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BACKGROUND Diagnosis of inherited platelet function disorders (IPFDs) is important for appropriate management and to improve epidemiologic and clinical knowledge. However, there remains a lack of consensus on the diagnostic approach. OBJECTIVES To gain knowledge on the current practices for the diagnosis of IPFD worldwide. METHODS A 67-item(More)
Inherited bleeding, thrombotic, and platelet disorders (BPDs) are diseases that affect ∼300 individuals per million births. With the exception of hemophilia and von Willebrand disease patients, a molecular analysis for patients with a BPD is often unavailable. Many specialized tests are usually required to reach a putative diagnosis and they are typically(More)
Several patients have been reported to have variant dominant forms of Glanzmann thrombasthenia, associated with macrothrombocytopenia and caused by gain-of-function mutations of ITGB3 or ITGA2B leading to reduced surface expression and constitutive activation of integrin αIIbβ3. The mechanisms leading to a bleeding phenotype of these patients have never(More)
BACKGROUND The interaction of megakaryocytes with matrix proteins of the osteoblastic and vascular niche is essential for megakaryocyte maturation and proplatelet formation. Fibrinogen is present in the vascular niche and the fibrinogen receptor α(IIb)β(3) is abundantly expressed on megakaryocytes, however the role of the interaction between fibrinogen and(More)
Megakaryocytes transfer a diverse and functional transcriptome to platelets during the final stages of thrombopoiesis. In platelets, these transcripts reflect the expression of their corresponding proteins and, in some cases, serve as a template for translation. It is not known, however, if megakaryocytes differentially sort mRNAs into platelets. Given(More)
OBJECTIVES To determine the interobserver reliability of residents and nurses collecting Acute Physiology and Chronic Health Evaluation (APACHE II) data and the subsequent effect of these data collections on individual patient mortality prediction. DESIGN In a prospective study, residents and nurses independently collected data to derive APACHE II scores.(More)
There is currently no universally accepted method to monitor circuit function or guidelines for circuit replacement during continuous renal replacement therapies (CRRT). The objectives of this study were to diagnose the causes of circuit failure, identify factors responsible for circuit clotting and determine a predictive monitor of circuit function. The(More)
Activated platelets express CD40L on their plasma membrane and release the soluble fragment sCD40L. The interaction between platelet surface CD40L and endothelial cell CD40 leads to the activation of endothelium contributing to atherothrombosis. Few studies have directly demonstrated an increased expression of platelet CD40L in conditions of in vivo(More)