Min‐Jung Kwon

<b>Background:</b> Measurement of natural killer (NK) cell function has important clinical utility in several diseases. Although the flow cytometry (FC)-based 4-h NK cytotoxicity assay using peripheral blood mononuclear cells (PBMCs) in the clinical laboratory has been used for this purpose, this assay requires large amounts of blood and a rapid PBMC isolation step. Here, we developed an FC-based overnight NK cytotoxicity assay using whole blood (WB), and applied it to patients with liver diseas

There was a significant correlation between warfarin dose and plasma warfarin concentrations in Korean patients with atrial fibrillation. Hence, plasma warfarin monitoring can help determine dose adjustments and improve our understanding of individual patient response to warfarin treatment.

The phytopathogenic fungus Magnaporthe oryzae is a major limiting factor in rice production. To understand the genetic basis of M. oryzae pathogenic development, we previously analyzed a library of T-DNA insertional mutants of M. oryzae, and identified ATMT0879A1 as one of the pathogenicity-defective mutants. Molecular analyses and database searches revealed that a single TDNA insertion in ATMT0879A1 resulted in functional interference with an annotated gene, MGG00056, which encodes a short-chai

Coagulation factor XII (FXII) participates in the initiation of blood coagulation, fibrinolysis, complement systems, and bradykinin generation. Hereditary FXII deficiency is caused by mutations in the F12 gene. In this report, we describe three Korean patients with FXII deficiency. In all three patients, prolonged activated partial thromboplastin time (aPTT) was detected on preoperative coagulation screening, without a history of bleeding tendency. Patient 1 was a 4-year-old girl with congenital

Branchio-oto-renal (BOR) and branchio-oto (BO) syndromes are autosomal dominant hereditary disorders characterized by the presence of hearing loss and branchial fistulae and cysts, with (BOR syndrome) or without (BO syndrome) renal malformations of varying degrees of severity. Mutations in the human homologous of the Drosophila eyes absent (EYA1) gene are frequently the cause of BOR/BO syndrome. Here we describe a Korean family with BO syndrome; the proband had preauricular pit, cup-shaped auric

Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by progressive spasticity in the lower extremities. Mutations in the atlastin GTPase 1 (ATL1) gene cause approximately 10% of autosomal dominantly inherited HSP. For many subjects with an ATL1 mutation, spastic gait begins in early childhood and does not significantly worsen, even over many years; such cases resemble spastic diplegic cerebral palsy. Herein we report a heterozygous R239C mutation in the ATL1 gene in

Hereditary factor XI (FXI) deficiency is a rare bleeding disorder inherited in an autosomal recessive manner. The genetic background of FXI deficiency is the mutations in the F11 gene on the chromosome band 4q35. The prevalence is known to be particularly high in Ashkenazi Jews with well documented recurrent mutations; however, founder mutations in F11 have also been reported in non-Jewish patients. In this report, we describe a Korean patient with severe FXI deficiency whose causative mutations

To decrease negative pathologic results after ESD, an endoscopist should perform ESD after sufficient communication with pathologists, especially for adenoma with low grade dysplasia, and choose correct lesion, especially located at the antrum and associated with intestinal metaplasia. The possibility of total removal of small lesions even by forcep biopsy should be considered.

The role of anti-Müllerian hormone (AMH) levels in incident vasomotor symptoms (VMS) is largely unknown. This study aimed to investigate the relationship between AMH levels and the development of early-onset VMS among premenopausal women. Our cohort study comprised 2041 premenopausal women aged 42-52 years free of VMS at baseline whose AMH levels were measured. VMS, including hot flushes and night sweats, were assessed using the Korean version of the Menopause-specific Quality of Life questionna

Coagulation factor VII (FVII) deficiency is a rare hereditary coagulopathy caused by mutations in the F7 gene. The aims of this study were to characterize the molecular defect of F7 in Korean patients with FVII deficiency and to find genotype-phenotype correlations. Study individuals consisted of 14 unrelated Korean patients with FVII deficiency with residual FVII activities ranging from 1 to 34%. To identify causative mutations, we performed PCR amplification and direct sequencing of all exons

GLUCOCARD X-METER showed a good analytical performance in linearity, precision, and comparison. The effect of hematocrit, sample volume, and storage condition for test strips were noted and glucometers had variable deviations to both directions from laboratory reference values (<20%). The GLUCOCARD X-METER provided rapid and reliable measurements of blood glucose. It could be appropriate for monitoring blood glucose values in diabetic patients.

Recurrent pregnancy loss (RPL) is typically defined as two or more consecutive pregnancy losses prior to 20 weeks of gestation. Although the causes of idiopathic RPL are not completely understood, vascular development and glucose concentration were reported to correlate with the pregnancy loss. The TGF-β signaling pathway which plays a significant role in pregnancy is activated by the interaction between high glucose and SMAD signaling and affects the vascular cells. SMAD5 and RUNX-1 are involve