Pure red cell aplasia in uncommon disorder characterized by finding of anemia, absence of nucleated red blood cell in the marrow, absence of reticulocytes in the peripheral blood and normal peripheral platelet and leukocytes counts. We experienced one case of pure red cell aplasia associated with hemolytic anemia characterized by hemoglobinuria, reticulocytopenia, and erythroid hypoplasia of the bone marrow. The cause of the illness was not definitely identified, but we concluded that this patient had simultaneous occurrence of PRCA and hemolytic anemia following administration of diphenylhydantoin after craniotomy rather than virus or bacteria induced. The simultaneous occurrence of PRCA and hemolytic anemia in uncommon and the mechanism for diphenylhydantoin induced PRCA and hemolytic anemia is unclear.
Anemia ; Anemia, Hemolytic ; Bacteria ; Blood Platelets ; Bone Marrow ; Craniotomy ; Erythrocytes ; Hemoglobinuria ; Humans ; Leukocytes ; Phenytoin ; Red-Cell Aplasia, Pure* ; Reticulocytes

TBX21 (T-bet) is a member of the T-box family of transcriptional factors that contain a conserved DNA binding domain. TBX21 is a critical regulator of the commitment to the Th1 lineage and IFN-gamma production. Th1 and Th2 cells cross-regulate the differentiation of each other, and in this way TBX21 could be an attractive candidate gene for treating autoimmune disease such as rheumatoid arthritis (RA). In present study, we analyzed the genotypic frequencies of six polymorphisms of the TBX21 gene between the 367 RA patients and the 572 healthy controls. We showed that the g.-1514T>C and c.99C>G polymorphisms are suggestively associated with RA susceptibility. It is interesting that the genotypic frequencies of the TBX21 polymorphisms (g.-1514T>C and c.2103A>C) in the male RA patients were significantly different from the male control group (P = 0.0016 and 0.045, respectively). We also found that the g.-1514T>C and c.2103A>C polymorphisms of the TBX21 gene in the male RA patients have significant association with the levels of anti-CCP (P = 0.05) and rheumatoid factor (P = 0.03), respectively. These results suggest that the polymorphisms of the TBX21 gene might be associated with the susceptibility to male RA patients.
Adult ; Alleles ; Arthritis, Rheumatoid/*genetics ; Asian Continental Ancestry Group/genetics ; Female ; Genotype ; Humans ; Male ; Middle Aged ; Peptides, Cyclic/analysis/immunology ; *Polymorphism, Single Nucleotide ; Rheumatoid Factor/analysis/immunology ; Sex Factors ; T-Box Domain Proteins/*genetics ; Th1 Cells/cytology

BACKGROUND: Interleukin 31 (IL-31) is a T helper type 2 effector cytokine that plays an important role in the pathogenesis of atopic and allergic diseases. IL-31 may be involved in promoting allergic inflammation and in inducing airway epithelial responses such as allergic asthma. METHODS: Single-base extension analysis was used to detect the genotypes of IL-31 single nucleotide polymorphisms (SNPs), and we compared the genotype and allele frequencies of the IL-31 SNPs between patients with asthma and healthy controls. RESULTS: There were no significant differences in the genotype and allele frequencies of the IL-31 SNPs between patients with asthma and healthy controls. Furthermore we compared the genotype and allele frequencies of IL-31 SNPs between patients with atopic asthma, those with non-atopic asthma and healthy controls. This showed that the SNPs were not associated with the susceptibility to atopic asthma. There were no significant differences in the haplotype frequencies of IL-31 SNPs between patients with asthma and healthy controls. In patients with asthma, the IL-31 SNPs were significantly correlated with total serum levels of IgE (p=0.035). CONCLUSIONS: Our results indicate that, the IL-31 SNPs may be associated with IgE production in patients with asthma.
Asthma ; Gene Frequency ; Genotype ; Haplotypes ; Humans ; Immunoglobulin E ; Inflammation ; Interleukins ; Polymorphism, Single Nucleotide

Animals ; Bicuculline ; Brain Stem ; Excitatory Postsynaptic Potentials ; Horns ; Neurons ; Rats ; Receptors, AMPA ; Receptors, Metabotropic Glutamate ; Receptors, N-Methyl-D-Aspartate ; Strychnine ; Synaptic Transmission ; Trigeminal Nucleus, Spinal

Studies on hepatic tuberculosis are rare in Korea except several case repots. This is the first report on hepatic tuberculosis confirmed by the peritoneoscopic liver biopsy in Korea. A 43-year-old man was admitted due to high fever and cough for l0 days. On physical examination moist rale was audible on the both lower lung fields and hepatomegaly was noted. Chest X-ray revealed multiple fine granularity scattered uniformly throughout the both lung fields compatible with miliary pulmonary tuberculosis. On blood chemistry, SGOT, SGPT and alkaline phosphatase were elevated. Peritoneascopy revealed multiple yellowish-white small nodules evenly acattered on the entire surface of the both lobes of the liver and the needle biopsy of the liver showed chronic granulomatous inflammation with multinucleated giant cells and caseous necrosis consistent with hepatic tuberculosis. The patient was treated with antituberculous medications. Chest X-ray 6 months after treatment revealed completely healed miliary pulmonary tuberculosis and on blood chemistry 200 days after therapy SGOT, SGPT and alkaline phosphatase were within normal limits.
Adult ; Alanine Transaminase ; Alkaline Phosphatase ; Aspartate Aminotransferases ; Biopsy* ; Biopsy, Needle ; Chemistry ; Cough ; Fever ; Giant Cells ; Hepatomegaly ; Humans ; Inflammation ; Korea ; Liver* ; Lung ; Necrosis ; Physical Examination ; Respiratory Sounds ; Thorax ; Tuberculosis, Hepatic* ; Tuberculosis, Pulmonary

The eotaxin gene family (eotaxin, eotaxin-2 and eotaxin-3) have been implicated in the recruitment of eosinophils, basophiles and helper T (Th) 2 lymphocytes that is a central aspect of allergic disease. We previously suggested that Eo2+179T>C and Eo2 +275C>T of the eotaxin-2, and Eo3 +2497T>G of the eotaxin-3 were significantly associated with susceptibility to asthma. To determine whether the single nucleotide polymorphisms (SNPs) of eotaxin-2 and eotaxin-3 gene family are associated with the susceptibility of ulcerative colitis (UC), we analyzed the genotype of 119 patients with UC and 303 controls using single-base extension (SBE) method. We also calculated the haplotype frequencies among Eo2 +179T>C and Eo2 +275C >T of the eotaxin-2 and Eo3 +2497T>G of the eotaxin-3 in both control and UC patients. The genotype frequency of Eo2 +179T>C and Eo2 +275C>T between UC patients and controls were significantly different (P=0.006 and 0.022, respectively). The genotype and allele frequencies of EoA2497T>G in UC patients were not significantly different from those in the controls without UC patients. Our results suggest that Eo2 +179T>C and Eo2 +275C>T of eotaxin-2 might be associated with the susceptibility of UC.
Adult ; Alleles ; Asian Continental Ancestry Group/*genetics ; Case-Control Studies ; Chemokines, CC/*genetics ; Colitis, Ulcerative/ethnology/*genetics ; Female ; Genetic Predisposition to Disease/*genetics ; Haplotypes ; Humans ; Korea ; Male ; Middle Aged ; Polymorphism, Genetic/*genetics ; Research Support, Non-U.S. Gov't

PURPOSE: Overexpression of cortactin (CTTN) in human tumors has been proposed to result in increased cell migration and metastatic potential. Here, we determined the frequencies of CTTN g.-9101C>T, g.-8748C>T, and g.72C>T polymorphisms in apparently healthy subjects and gastric cancer patients, respectively, and the influence of the CTTN polymorphisms on gastric cancer susceptibility. METHODS: Blood samples were collected from 267 patients and 533 controls. CTTN g.-8748C>T and g.-9101C>T polymorphisms were determined using polymerase chain reaction-restriction fragment length polymorphism; the g.72C>T polymorphism was determined using the TaqMan method. RESULTS: Genotype frequencies of the CTTN g.-9101C>T polymorphism were 97.5% (TT), 2.5% (TC), and 0% (CC) in the patient group, and 98.6% (TT), 1.4% (TC), and 0% (CC) in the control group. Genotype frequencies of the CTTN g.-8748C>T polymorphism were 93.3% (TT), 6.8% (TC), and 0% (CC) in the patient group, and 94.2% (TT), 5.8% (TC), and 0% (CC) in the control group. Genotype frequencies of the CTTN g.72C>T polymorphism were 82.4% (CC), 17.2% (CT), and 0.4% (TT) in the patient group, and 78.0% (CC), 20.1% (CT), and 1.9% (TT) in the control group. Genotype and allele frequencies of the CTTN g.-9101C>T polymorphism differed significantly between the advanced gastric cancer and control groups. Patients with advanced gastric cancer, possessing the TC genotype, had a significantly poorer prognosis than the group with the TT genotype. CONCLUSION: The CTTN g.-9101C>T polymorphism might influence advanced gastric cancer susceptibility. However, the role of the CTTN g.-9101C>T, g.-8748C>T, and g.72C>T polymorphisms requires careful interpretation and confirmation through larger studies.
Cell Movement ; Cortactin* ; Gene Frequency ; Genotype ; Humans ; Polymorphism, Genetic* ; Prognosis ; Stomach Neoplasms*

BACKGROUND: We examined global gene expression profiles of peripheral blood mononuclear cells (PBMCs) in patients with ulcerative colitis (UC), and tested whether the identified genes with the altered expression might be associated with susceptibility to UC. METHODS: PBMCs from 8 UC and 8 normal healthy (NH) volunteers were collected, and total RNAs were subjected to the human 8.0K cDNA chip for the microarray analysis. Real time-PCR (RT-PCR) was performed to verify the results of microarray. One hundred forty UC patients and 300 NH controls were recruited for single nucleotide polymorphism (SNP) analysis. RESULTS: Twenty-five immune function-related genes with over 2-fold expression were identified. Of these genes, two chemokines, namely, CXCL1 and CCL20, were selected because of their potential importance in the evocation of host innate and adaptive immunity. Four SNPs were identified in the promoter and coding regions of CXCL1, while there was no significant difference between all patients with UC and controls in their polymorphisms, except minor association at g.57A< G (rs2071425, p=0.02). On the other hand, among three novel and one known SNPs identified in the promoter region of CCL20, g.-1,706 G< A (p=0.000000055), g.-1,458 G< A (p=0.0048), and g.-962C< A (p=0.0006) were found to be significantly associated with the susceptibility of UC. CONCLUSION: Altered gene expression in mononuclear cells may contribute to IBD pathogenesis. Although the findings need to be confirmed in other populations with larger numbers of patients, the current results demonstrated that polymorphisms in the promoter region of CCL20 are positively associated with the development of UC.
Adaptive Immunity ; Chemokines ; Clinical Coding ; Colitis, Ulcerative* ; Crohn Disease ; DNA, Complementary ; Gene Expression ; Hand ; Humans ; Inflammatory Bowel Diseases ; Microarray Analysis ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic* ; RNA ; Transcriptome ; Ulcer* ; Volunteers

Flecainide acetate is a potent class Ic anti-arrhythmic drug with a major sodium channel-blocking effect. Flecainide toxicity can cause myocardial impairment and precipitate circulatory collapse, particularly in patients with renal failure. Electrical and hemodynamic deterioration during flecainide toxicity may not respond to conventional treatments. We report the successful management of flecainide toxicity using extracorporeal membrane oxygenation (ECMO), hemoperfusion, and bicarbonate administration maintaining alkalinity.
Extracorporeal Membrane Oxygenation ; Flecainide* ; Hemodynamics ; Hemoperfusion ; Humans ; Renal Insufficiency ; Shock ; Sodium ; Tachycardia, Supraventricular*

Human leucine-rich alpha-2-glycoprotein 1 (LRG1 ) was first identified as a trace protein in human serum. The primary sequence of LRG1 includes repeated leucine residues and putative membrane-binding domains. But, there is no published information on the genetic variation of this gene. In this study, LRG1 was identified as one of several upregulated genes in RA patients. We examined the expression levels of LRG1 between an RA patient and a healthy control by RT-PCR and validated that LRG1 was highly expressed in RA patients compared with controls. We identified the possible variation sites and single nucleotide polymorphisms (SNPs) in the human LRG1 gene by direct sequencing and analyzed the association of genotype and allele frequencies between RA patients and a control group without RA. We further investigated the relationship between these polymorphisms and the level of RF or anti-CCP in RA patients. We identified a total of three SNPs (g.-678A> G, g.-404C>T and g.1427T>C) and two variation sites (g.-1198delA and g.-893delA) in the LRG1 gene. Our results suggest that polymorphisms of the LRG1 gene are not associated with the susceptibility of RA in the Korean population.
Arthritis, Rheumatoid ; Gene Frequency ; Genetic Variation ; Genotype ; Humans ; Leucine ; Polymorphism, Single Nucleotide