Cord blood is one of the promising sources of hematopoietic stem cell and the public cord blood bank should cryopreserve only high quality, conforming cord blood units for transplantation. Cryopreserved cord blood units have several advantages over other hematopoietic stem cell sources such as bone marrow or mobilized peripheral stem cells; cord blood is in the ready-to-use state after the necessary testing and cause less graft-versus-host disease due to cellular immaturity. The limiting factor is the restricted cell number, which resulted in delayed engraftment and immunologic reconstitution. Selection of cord blood for patients is determined by two criteria: the number of total nucleated cell and the matching of human leukocyte antigen. The cord blood inventory required for any given ethnicity is determined by HLA diversity. In terms of growing interest of cord blood as a stem cell source, we reviewed the current status of cord blood related issues in Korea.
Bone Marrow ; Cell Count ; Fetal Blood ; Fibrinogen ; Graft vs Host Disease ; Hematopoietic Stem Cell Transplantation ; Hematopoietic Stem Cells ; Humans ; Korea ; Leukocytes ; Stem Cells ; Transplants

Kawasaki disease (KD) is a major cause of acquired coronary artery diseases in childhood. The serum levels of matrix metalloproteinase (MMP)-3 and MMP-9 in KD have been reported to be significantly higher than other diseases. Several studies have demonstrated that MMP-3 5A/6A polymorphism and MMP-9 C-1562T polymorphism modify each transcriptional activity in allele specific manner. We hypothesized that these polymorphisms may play a role as a risk factor for development of coronary artery lesions (CAL) in KD. Eighty-three patients, diagnosed with KD in Cheju National University Hospital from January 2000 to February 2004, were divided into two groups according to the presence of CAL. Genotyping of MMP-3 and MMP-9 gene polymorphisms were determined by restriction fragment length polymorphism. With regard to MMP-3 gene polymorphism, the KD with CAL group had a higher frequency of 6A/6A genotype than control group (p=0.0127) and the KD without CAL group (p=0.0036). However, no significant differences in the allele and genotype distributions of the MMP-9 polymorphism were observed. These findings suggest that MMP-3 6A/6A genotype may be an independent risk factor for CAL formation in KD.
Adolescent ; Adult ; Aged ; Alleles ; Child ; Child, Preschool ; Coronary Arteriosclerosis/enzymology/etiology/*genetics ; Female ; Gelatinase B/genetics ; Gene Frequency ; Genotype ; Humans ; Infant ; Male ; Middle Aged ; Mucocutaneous Lymph Node Syndrome/*complications ; *Polymorphism, Genetic ; Promoter Regions (Genetics)/*genetics ; Research Support, Non-U.S. Gov't ; Risk Factors ; Stromelysin 1/*genetics

The present study was aim to evaluate the association between very long chain saturated fatty acids (VLSFAs) and metabolic syndrome (MetS) in Korean population. The study population were recruited from the Korea National Health and Nutrition Examination Survey VI (2013). Using the cross-sectional study design, socio-demographic factors, medical history, and clinical measurements were investigated according to quartiles of VLSFAs intake. The associations between each and sum of VLSFAs intake and MetS were assessed by logistic regression. The result indicated that higher intake of VLSFAs was significantly associated with favorable metabolic status, including lower levels of circulating triglyceride (TG) (p < 0.05). Additionally, subjects with higher intake of arachidic acid and total VLSFAs were negatively associated with MetS risk compared to subjects with lower intake of those fatty acids (p < 0.05). In conclusion, dietary VLSFAs intake was associated with metabolic risk factors and lower risk of MetS in Korean population.
Cross-Sectional Studies ; Fatty Acids* ; Korea* ; Logistic Models ; Nutrition Surveys* ; Risk Factors ; Triglycerides

PURPOSE: Cysteinyl leukotrienes are important inflammatory mediators in the pathogenesis of asthma; therefore interruption of cysteinyl leukotrienes by leukotriene receptor antagonists improves clinical symptoms in the management of patients with mild to moderate asthma. We evaluated whether clinical response to montelukast, a leukotriene receptor antagonist, in childhood asthma was predicted by genotypes of leukotriene C4 synthase (LTC4S) promoter gene polymorphism. METHODS: An 8-week prospective, open trial of montelukast was carried out in 161 children with mild to moderate asthma. Genotyping of LTC4S gene polymorphism was determined by restriction fragment length polymorphism. RESULTS: The distribution of the LTC4S genotypes AA, AC, and CC was 70.8 percent, 23.6 percent, and 5.6 percent, respectively in asthma group and 74.0 percent, 22.6 percent, and 3.4 percent, respectively in control group. A statistically significant difference in the distribution of LTC4S genotype was not observed between the asthma and the control groups, and there was no significant difference between the LTC4S genotype and asthma severity. The responders to montelukast were significantly prevalent in the mild asthma group (P< 0.05). There was no significant difference in the distribution of the responders compared to non-responders within genotype in the total asthma group or the moderate asthma group. However, the responsiveness for montelukast was significant difference within genotype for both AA and AC/CC in the mild asthma group: The AA genotype was more included in the responder group (P< 0.05). CONCLUSION: In the mild persistent asthma group, the A allele of LTC4S polymorphism may be regarded as a predictable factor for clinical response to montelukast. However, LTC4S polymorphism was not significantly associated with the clinical response to montelukast in asthmatic children.
Alleles ; Asthma* ; Child ; Genotype ; Humans ; Leukotriene Antagonists ; Leukotriene C4* ; Leukotrienes ; Polymorphism, Restriction Fragment Length ; Prospective Studies ; Receptors, Leukotriene

BACKGROUND: To determine the molecular structure of type II collagen-specific T-cell receptors associated with rheumatoid arthritis (RA). METHODS: We generated CII-specific T-cell lines of 8 RA patient s by prolonged in vitro culture with bovine CII (bCII) and the immunogenic peptide (256-270) of human CII. The proliferation response towards CII stimulation was measured from the uptake of 3 H-thymidine. Changes in the secretion of Th 1 and Th2 cytokines in the culture supernatent were measured by ELISA. The TCR clonotypes of these T-cells were examined by RT-PCR/ SSCP analyses of all 22 V beta chains. RESULTS: T-cells from patients' tissue exhibited strong proliferation index upon CII stimulation, which was maintained up to 6 months in the culture. The secretion of INF-gamma from these T-cells increased along with the duration of culture time, while the amount of IL-4 production did not show significant changes. The SSCP band patterns of patients' T-cells appear as discrete bands unlike the smeary streak produced from normal samples. Some SSCP bands, each representing selected expansion of a TCR containing certain subtype of V beta peptides, appeared to be identical in more than one patients. Among these, the expansion of SSCP band representing the V beta 14 CDR3 region persisted after switching the antigen to the immunogenic human peptide (256-270). CONCLUSION: CII-reactive T-cells expressing distinct CDR3 motifs are selectively expanded in the peripheral blood and synovial fluid of RA patients, and their persistent proliferation upon CII stimulation, as well as the production Th 1-type cytokines, may play pivotal roles in RA pathogenesis.
Arthritis, Rheumatoid* ; Cytokines ; Enzyme-Linked Immunosorbent Assay ; Humans ; Interleukin-4 ; Molecular Structure ; Peptides ; Polymorphism, Single-Stranded Conformational ; Receptors, Antigen, T-Cell ; Synovial Fluid ; T-Lymphocytes*

Oral administration of antigen has long been used in the induction of immune tolerance in various animal models of autoimmune diseases including rheumatoid arthritis (RA). Alleveation of arthritogenic symptoms has been reported from RA patients who received oral administration of type II collagen (CII) without side effects, however its rather inconsistent therapeutic efficacy and variation among patients calls for more detailed investigation on the mechanism of oral tolerance to be settled as regular treatment for RA. In an attempt to understand the immunogenic processes underpinning tolerance induction by orally administered CII, we analyzed changes in the expression of costimulatory molecules and STAT/SOCS signaling messengers in the mouse model of collagen induced arthritis (CIA). We found thatin the spleen of CIA mice, that has been undergone repeated oral feeding of CII prior to the induction of arthritis, showed increased promortion of CTLA4 expressing lymphocytes than in the spleen of PBS fed control. On the other hand, cells expressing CD28 or ICOS were decreased in the spleen of tolerized mice. Tolerance induction by oral CII administration also enhanced the expression of STAT6 in both RNA and protein level, while not affecting the expression of STAT3. The expression of SOCS3, which hasbeen known to transmit STAT-mediated signals from Th2 type cytokines, remained unchanged in the spleen of tolerized mice. Interestingly transcript of SOCS1, which has been associated with Th1 related pathways, was only visible in the spleen of tolerized but not of control mice, suggesting that as in the case of IL-6 signaling, it may exert a feed back inhibition toward the Th1 type stimulation.
Administration, Oral* ; Animals ; Arthritis* ; Arthritis, Rheumatoid ; Autoimmune Diseases ; Collagen ; Collagen Type II* ; Cytokines ; Hand ; Humans ; Immune Tolerance ; Interleukin-6 ; Lymphocytes ; Mice* ; Models, Animal ; RNA ; Spleen

Since Yunis and Sanchez described in 1974, distal 10q partial trisomy has been recognised as a chromosomal anomaly, which has typical features, psychomotor delays, distinctive dysmorphic appearance and growth retardation. Also, it is associated with cardiac, renal and ocular anomalies. Most of them result from an unbalanced tanslocation or a deletion but, pure duplications are very rare. We report a 19-month-old boy with typical clinical features of distal 10q partial trisomy with a pure duplicatin of 10q.
Humans ; Infant ; Male ; Trisomy*

We present a case of 34-year-old female patient with major depressive disorder who had decreased metabolic activity of CYP2D6. Low dosage regimen of mirtazapine & paroxetine led to unexpectedly severe adverse effects and noncompliance in this case with genotype CYP2D6 *1/*5. Antidepressant change to imipramine with consideration of the genotyping resulted with tolerable adverse effects and remission of depression. This case suggests the clinical usefulness of pharmacogenetic testing in individualized antidepressant treatments.
Adult ; Cytochrome P-450 CYP2D6 ; Cytochrome P-450 Enzyme System* ; Cytochromes* ; Depression ; Depressive Disorder, Major* ; Female ; Genotype* ; Humans ; Imipramine ; Paroxetine ; Pharmacogenetics

Intermediate-resolution HLA-DQ typing has gained importance in organ transplantation recently. We evaluated the performance of the LIFECODES HLA-DQB1 typing kit (Immucor, USA) using sequence-specific oligonucleotide (SSO) probe and Luminex platform (Luminex Corp., USA) on 100 samples tested by sequence-based typing (SBT) using the AlleleSEQR HLA-DQB1 kit (Abbott Molecular, USA) in Korean individuals. No sample showed ambiguity in the assignment of 4-digit HLA-DQB1 allele with the LIFECODES HLA-DQB1 SSO typing kit, and the results were fully concordant with those of high-resolution typing of AlleleSEQR HLA-DQB1 SBT up to 4-digit level. Three samples required adjustment of false reactions (3/100, 3.0%): two samples with DQB1*03:03/*06:01 showed false-positive result in probe 253, and 1 sample with DQB1*04:02/*05:02 showed false-negative result in probe 217. We tested an additional sample with DQB1*03:03/*06:01, which showed same false-positivity in probe 253 and 2 samples with DQB1*04:02/*05:02, which showed no false reaction. The false reactions did not result in ambiguity or change in the HLA allele assignment. We could assign HLA-DQB1 alleles to 4 digit-level without ambiguity, with 100% concordance with the SBT results. Thus, LIFECODES HLA-DQB1 SSO typing kit showed good performance for intermediate-resolution HLA-DQB1 typing in clinical laboratory for organ transplantation in Koreans.
Alleles ; DNA Primers/metabolism ; Gene Frequency ; Genotype ; HLA-DQ beta-Chains/*genetics/metabolism ; Histocompatibility Testing/*standards ; Humans ; Polymerase Chain Reaction ; Reagent Kits, Diagnostic/*standards ; Republic of Korea