Ja-Young Seo

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Hereditary natural anticoagulant deficiencies are the major cause of genetic thrombophilia in Asia. Given the growing acknowledgment of the risk of venous thromboembolism in Asian populations, we investigated the frequency and mutation spectrums of natural anticoagulant deficiency in Korea. The group of patients consisted of consecutive patients with venous(More)
BACKGROUND Hypomethylating agents, such as azacitidine and decitabine, now constitute one of the mainstays of myelodysplastic syndrome (MDS) treatment. In recent years, novel recurrent mutations in multiple genes encoding RNA spliceosomal machinery (SRSF2, U2AF1, ZRSR2, SF3B1) were revealed. However, the clinical impact of these mutations on the outcomes of(More)
Iron-refractory iron deficiency anemia (IRIDA) is a rare hereditary form of IDA with autosomal recessive inheritance. IRIDA is characterized by hypochromic microcytic anemia unresponsive to oral iron treatment, low transferrin saturation, and a high level of iron-regulated hormone hepcidin. The genetic background of IRIDA is mutations in the TMPRSS6 gene(More)
MYC rearrangement, a characteristic cytogenetic abnormality of Burkitt lymphoma and several subsets of other mature B-cell neoplasms, typically involves an immunoglobulin gene partner. Herein, we describe a case of precursor B-cell lymphoblastic leukemia harboring a MYC rearrangement with a novel non-immunoglobulin partner locus. The patient was a 4-yr-old(More)
AIMS Previous studies have suggested many prognostic factors in diffuse large B-cell lymphoma (DLBCL), but the prognostic importance of cell-of-origin and discordant bone marrow involvement remains unclear. The aim of this study was to evaluate the prognostic impact of bone marrow involvement histological subtype, cell-of-origin subtype and international(More)
Hemophilia B is a hereditary bleeding disorder from the deficiency of factor IX (FIX) activity. Hemophilia B is caused by a mutation in the F9 gene on Xq27.1 encoding FIX and, thus, has an X-linked inheritance. The diagnosis of hemophilia B is typically suspected by significantly prolonged activated partial thromboplastin time (aPTT) on screening tests, but(More)
Isolated central nervous system (CNS) relapse is a rare, unpredictable event in patients with CML. Some studies have reported cases of isolated CNS relapse in CML [1-13]. However, very few studies have reported on isolated CNS relapse in the blast phase (BP) of CML in Korea [14, 15]. We report a case of BP CML with extramedullary lymphoblast proliferation(More)
Background Vancomycin is used for the treatment of resistant staphylococcal and enterococcal infections but is associated with nephrotoxicity. Neutrophil gelatinase-associated lipocalin (NGAL) was recently identified as a sensitive biomarker for acute kidney injury. Here, we aimed to investigate the usefulness of serum NGAL in monitoring patients undergoing(More)
Hemophagocytic lymphohistiocytosis (HLH) occurs in the primary form (genetic or familial) or secondary form (acquired). The familial form of HLH (FHL) is a potentially fatal autosomal recessive disorder that occurs because of constitutional defects in cell-mediated cytotoxicity. Here, we report a fatal neonatal case of type 2 FHL (FHL2) that involved a(More)