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

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

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

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: RNase3 is a secretory ribonuclease found in eosinophilic leukocytes and is involved in the innate immune system. Its cytotoxic activity is effective against a wide range of pathogens. Generally, high levels of RNase3 have been reported in cases of active asthma and allergic diseases. However, a relationship between RNase3 and colon cancer has not yet been reported. We performed a case-control study to examine the relationship between RNase3 polymorphisms and the risk of colorectal cancer in Korean people. METHODS: Blood sampling of each group was performed, TaqMan in g.-550A>G, PCR-RFLP in g.371C>G, and high resolution melting (HRM) in g.499C>G were analyzed. As results, the three SNPs, g.-550A>G, g.371C>G, and g.499C>G, in RNase3 and their haplotypes were analyzed. RESULTS: The genotype and the allele frequencies of RNase3 g.-550A>G and g.371C>G were not significantly associated with increased risk for colon cancer compared to the control group, but the RNase3 g.499C>C genotype was associated with a significantly increased risk for colorectal cancer compared to the control group (P=0.001). Also, the RNase3 g.499C>C genotype was more specifically associated with a significantly increased risk for right colon cancer than left colon cancer (P<0.001). In haplotypes of RNase3 SNPs, g.-550G, g.371C, and g.499G were significantly associated with colorectal cancer (P=0.019): more specifically, left colon cancer and rectal cancer than right colon cancer (P=0.048). CONCLUSION: The RNase3 g.499C>G polymorphism may have an influence on colorectal cancers and may have a more specific influence on right colon cancer than left colon cancer and on rectal cancer. However, the significance of the RNase3 g.-550A>G and g.371C>G polymorphisms need careful interpretation and require confirmation in larger studies.
Asthma ; Case-Control Studies ; Colonic Neoplasms ; Colorectal Neoplasms ; Eosinophils ; Freezing ; Gene Frequency ; Genotype ; Haplotypes ; Immune System ; Leukocytes ; Polymorphism, Single Nucleotide ; Rectal Neoplasms ; Ribonucleases

Cardiovascular beriberi is caused by thiamine deficiency and usually presents as high cardiac output failure associated with predominantly right-sided heart failure and rapid recovery after treatment with thiamine. Because of its rarity in developed countries, the diagnosis can often be delayed and missed. We recently experienced a case of cardiovascular beriberi with pulmonary hypertension which successfully treated with thiamine infusion. A 50-year-old man with chronic heavy alcoholics was refered to our department for dyspnea with mental change. Echocardiography showed marked right ventricular (RV) dilatation and flattening of the interventricular septum with a D-shaped deformation of the left ventricle. Moderate tricuspid valve regurgitation was found and estimated RV systolic pressure was 52 mm Hg. Because of his confused mentality and history of chronic alcohol intake, neurological disorder due to thiamine deficiency was suspected and intravenous thiamine was administered and he continuously received a daily dose of 100 mg of thiamine. Follow up echocardiography showed marked reduction of RV dilatation and improvement of a D-shaped deformation of the left ventricle. He finally diagnosed as cardiovascular beriberi on the basis of dramatic response to intravenous thiamine. Thiamine deficiency can cause reversible pulmonary hypertension, and can still be encountered in the clinical setting. Thus high index of suspicion is critically needed for diagnosis.
Alcoholics ; Beriberi* ; Blood Pressure ; Cardiac Output, High ; Developed Countries ; Diagnosis ; Dilatation ; Dyspnea ; Echocardiography ; Follow-Up Studies ; Heart Failure ; Heart Ventricles ; Humans ; Hypertension, Pulmonary* ; Middle Aged ; Nervous System Diseases ; Thiamine ; Thiamine Deficiency ; Tricuspid Valve Insufficiency

PURPOSE: Various studies searching for biomarkers to predict tumor metastasis or prognosis in both esophageal squamous cell carcinoma (ESCC) and head and neck squamous cell carcinoma (HNSCC) are currently underway. However, few data have been reported on its association with colorectal cancer (CRC). Single nucleotide polymorphisms (SNPs) are the most common known form of human genetic variation and may contribute to an increased susceptibility to cancer including CRC. The present study aimed to investigate whether the polymorphisms in the CTTN gene are associated with susceptibility to CRC in the Korean population. METHODS: A case-control study was performed to examine the relationship between the CTTN g.-9101C>T, g.-8748C>T, and g.72C>T polymorphisms and the risk of CRC. Polymerase chain reaction-restriction fragment length polymorphism analysis of g.-8748C>T, g.-9101C>T and Taqman analysis of g.72C>T were performed on blood samples from 218 patients with CRC and 533 control individuals. The g.-9101C>T, g.-8748C>T, and g.72C>T SNPs in CTTN and their haplotypes were analyzed. RESULTS: The genotype and allele frequencies of g.-9101C>T, g.-8748C>T, and g.72C>T did not differ between the patient group and the control group. Further, the haplotype of CTTN g.-9101C>T, g.-8748C>T, and g.72C>T did not differ between patient group and the control group. However, the genotype and allele frequencies of CTTN g.-9101C>T were significantly increased in the lymph node positive CRC group compared to the control group. CONCLUSION: The CTTN g.-9101C>T polymorphism may influence lymph node positive CRC.
Biomarkers ; Carcinoma, Squamous Cell ; Case-Control Studies ; Colorectal Neoplasms ; Esophageal Neoplasms ; Gene Frequency ; Genetic Variation ; Genotype ; Haplotypes ; Head ; Humans ; Lymph Nodes ; Neck ; Neoplasm Metastasis ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Prognosis

To select candidate genes, we attempted to comparative analysis of protein levels between rheumatoid arthritis (RA) patients and healthy controls by two-dimensional electrophoresis (2-DE) and matrix-assisted laser desorption ionization mass spectrometry (MALDI-TOF-MS). We identified 17 proteins that showed up- or down-regulated spots in RA patients. We found that coactosin-like1 (COTL1) were highly expressed in RA patients compared with healthy controls. We performed a case-control study to determine whether the COTL1 gene polymorphisms were associated with RA and systemic lupus erythematosus (SLE). The genotype frequency of c.-1124G>T and the allelic frequency of c.484G>A in RA patients, and the genotype frequency of c.484G>A in SLE patients were significantly different from healthy controls (P = 0.009, 0.027, and 0.025, respectively). We also investigated the correlation with the levels of rheumatoid factor (RF) and anti-cyclic citrullinated peptide (CCP) antibody in RA patients, and anti-nuclear antibodies (ANA) in SLE patients. The c.484G>A polymorphism in RA patients has significant association with the levels of anti-CCP antibody (P = 0.03). Our findings demonstrated that c.-1124G>T and c.484G>A polymorphisms of the COTL1 gene might be associated with the genetic susceptibility of autoimmune disorders.
Arthritis, Rheumatoid/*genetics/immunology/metabolism ; Autoimmune Diseases/genetics/immunology ; Case-Control Studies ; Electrophoresis, Gel, Two-Dimensional ; Genotype ; Humans ; Lupus Erythematosus, Systemic/genetics/immunology ; Microfilament Proteins/*genetics/metabolism ; Polymorphism, Genetic/*genetics ; Proteome/genetics ; Proteomics/*methods ; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization