Gabriela G Yamaguti-Hayakawa
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View article: PP29 Contextualizing Gene Therapy Educational Resources For Hemophilia Patients In Brazil: Translation Process And Preliminary Qualitative Patient Preferences Findings
PP29 Contextualizing Gene Therapy Educational Resources For Hemophilia Patients In Brazil: Translation Process And Preliminary Qualitative Patient Preferences Findings Open
Introduction Decision-making in the context of health technology assessment (HTA) of gene therapies for hemophilia needs to be tailored toward patients’ preferences. To promote equitable and patient-centered decision-making, it is crucial …
View article: Long-term durability of rAAV gene therapy in hemophilia: Factor expression, clinical outcomes and underlying molecular mechanisms
Long-term durability of rAAV gene therapy in hemophilia: Factor expression, clinical outcomes and underlying molecular mechanisms Open
For decades, the management of hemophilia A and B has relied on frequent intravenous infusions of factor VIII (FVIII) or factor IX (FIX), a regimen that imposes substantial physical and emotional burdens on patients, and carries significan…
View article: New insights into Wiskott-Aldrich syndrome: ten novel WAS mutations and their clinical impact in a Brazilian cohort
New insights into Wiskott-Aldrich syndrome: ten novel WAS mutations and their clinical impact in a Brazilian cohort Open
Background Wiskott-Aldrich Syndrome (WAS) is a rare and severe X-linked immunodeficiency disorder characterized by microthrombocytopenia, eczema, and increased susceptibility to infections, autoimmunity, and malignancies. This study aims t…
View article: Mapping Thrombosis Serum Markers by 1H-NMR Allied with Machine Learning Tools
Mapping Thrombosis Serum Markers by 1H-NMR Allied with Machine Learning Tools Open
Machine learning and artificial intelligence tools were used to investigate the discriminatory potential of blood serum metabolites for thromboembolism and antiphospholipid syndrome (APS). 1H-NMR-based metabonomics data of the serum sample…
View article: Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia from two different regions of Brazil
Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia from two different regions of Brazil Open
Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized hemorrhagic diseases described in consensus clinical diagnostic criteria (Curaçao). We describe the clinical and molecular characteristics of HHT patients fr…
View article: Plain language summary of the GENEr8-1 clinical trial of valoctocogene roxaparvovec gene therapy for hemophilia A
Plain language summary of the GENEr8-1 clinical trial of valoctocogene roxaparvovec gene therapy for hemophilia A Open
What is this summary about? In healthy people, a protein called factor VIII (FVIII) helps blood to clot and prevents excessive bleeding. People with hemophilia A lack FVIII because a faulty F8 gene is giving the wrong instructions to the l…
View article: BLEEDING, FVIII ACTIVITY, AND SAFETY 3 YEARS AFTER GENE TRANSFER WITH VALOCTOCOGENE ROXAPARVOVEC: RESULTS FROM GENER8-1
BLEEDING, FVIII ACTIVITY, AND SAFETY 3 YEARS AFTER GENE TRANSFER WITH VALOCTOCOGENE ROXAPARVOVEC: RESULTS FROM GENER8-1 Open
Aims: Valoctocogene roxaparvovec (AAV5-hFVIII-SQ) provides endogenous factor VIII (FVIII) production to prevent bleeding in people with severe hemophilia A. This study evaluated bleeding, FVIII activity and safety outcomes 3 years after re…
View article: Gene therapy for hemophilia: looking beyond factor expression
Gene therapy for hemophilia: looking beyond factor expression Open
Hemophilia A (factor VIII [FVIII] deficiency) and hemophilia B (factor IX [FIX] deficiency) are the X-linked recessive bleeding disorders that clinically manifest with recurrent bleeding, predominantly into muscles and joints. In its sever…
View article: Neurological manifestations in thrombotic microangiopathy: Imaging features, risk factors and clinical course
Neurological manifestations in thrombotic microangiopathy: Imaging features, risk factors and clinical course Open
Background and purpose Thrombotic microangiopathy (TMA) is a group of microvascular occlusive disorders that presents with neurological involvement in up to 87% of the cases. Although the central nervous system (CNS) is an important target…
View article: Immunogenicity of Current and New Therapies for Hemophilia A
Immunogenicity of Current and New Therapies for Hemophilia A Open
Anti-drug antibody (ADA) development is a significant complication in the treatment of several conditions. For decades, the mainstay of hemophilia A treatment was the replacement of deficient coagulation factor VIII (FVIII) to restore hemo…
View article: Impact of novel hemophilia therapies around the world
Impact of novel hemophilia therapies around the world Open
Hemophilia A and B are hereditary bleeding disorders, characterized by factor VIII or IX deficiencies, respectively. For many decades, prophylaxis with coagulation factor concentrates (replacement therapy) was the standard-of-care approach…
View article: A retrospective analysis of 122 immune thrombocytopenia patients treated with dapsone: Efficacy, safety and factors associated with treatment response
A retrospective analysis of 122 immune thrombocytopenia patients treated with dapsone: Efficacy, safety and factors associated with treatment response Open
Our findings suggest that dapsone has adequate efficacy and is well tolerated. Although the mechanism of action is still unclear, our observation that the degree in the drop of hemoglobin is greater in responders suggest a possible role of…
View article: Longitudinal sequencing of <i><scp>RUNX</scp>1</i> familial platelet disorder: new insights into genetic mechanisms of transformation to myeloid malignancies
Longitudinal sequencing of <i><span>RUNX</span>1</i> familial platelet disorder: new insights into genetic mechanisms of transformation to myeloid malignancies Open
Summary The mechanisms by which patients with RUNX 1 familial platelet disorder with propensity to myeloid malignancies ( FPDMM ) develop myeloid malignancies ( MM ) are not fully understood. We report the results of targeted next‐generati…