Mary Mathias

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UNLABELLED SUMMARY BACKGROUND AND OBJECTIVES: he management of patients with severe hemophilia A and inhibitors to factor VIII (FVIII) resistant to standard immune tolerance is challenging. There have been recent case reports of the successful use of rituximab in up to 57% of patients as part of rescue immune tolerance regimens. Because case reports and(More)
Glanzmann thrombasthenia (GT) is a rare autosomal recessive platelet function disorder. Stem cell transplantation (SCT) is curative, but it is only indicated in selected patients with a severe clinical phenotype or who develop anti-platelet antibodies. SCT have previously been limited to full intensity myeloablative conditioning regimens. This study details(More)
rFVIIIFc (efraloctocog alfa, Eloctate®) is an extended half-life (EHL) factor VIII licensed for use in patients with hemophilia A for prophylaxis and treatment of bleeding and surgical episodes. Pharmacokinetic studies in adults have shown a mean 1.5-fold increase in half-life compared to full-length factor VIII. When compared to adults, the half-life is(More)
OBJECTIVE Risk assessment for venous thromboembolism (VTE) and thromboprophylaxis in those with risk factors is established in adult practice. Evidence to support efficacy and safety of this approach in adolescents is lacking. We aimed to describe thrombotic risk factors and to determine the proportion of potentially preventable events in a retrospective(More)
Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by enlarged and reduced numbers of circulating platelets, sometimes resulting in abnormal bleeding. In most MTP, this phenotype arises because of altered regulation of platelet formation from megakaryocytes (MKs). We report the identification of DIAPH1, which encodes the(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)
PB 2.54-1.<lb>Bauduer, F., Guichandut, J.P. & Ducout, L. (2004) Successful use of fresh frozen plasma and desmopressin for transurethral prostatectomy in a<lb>French Basque with combined factors V + VIII deficiency. Journal of Thrombosis and Haemosta-
on the other chromosome. There has been one reported case of severe congenital FVII deficiency associated with 13q deletion (FX level 49%, FVII level 2%) and this was associated with major gastrointestinal bleeding [8]. To our knowledge, this is the first reported case of severe congenital FX deficiency associated with deletion of 13q with resultant severe(More)