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: 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

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*

OBJECTIVE: The objective of this study is to assess whether genetic functional variants of disintegrin and metalloprotease 33 (ADAM33) are associated with susceptibility to systemic lupus erythematosus (SLE) in a Korean population. METHODS: We previously identified 48 single nucleotide polymorphisms (SNPs) in ADAM33. Six SNPs were selected with regard to the linkage disequilibrium pattern. An association study of ADAM33 was conducted in 190 patients with SLE and 469 control subjects. SNPs were genotyped using the TaqMan Real-time polymerase chain reaction method, and haplotype analyses of related variants were performed. RESULTS: All SNPs were in Hardy-Weinberg equilibrium. Significant associations were found between the ADAM33 polymorphisms and SLE at rs2787094 (adjusted odds ratio [OR] 1.88, 95% confidence interval [CI] 1.00 to 3.54; p<0.0001). The rs554743 polymorphism was associated with the presence of the immunoglobulin M anti-cardiolipin antibody (adjusted OR 0.29, 95% CI 0.10 to 0.83; p=0.021). CONCLUSION: ADAM33 polymorphisms were associated with susceptibility to SLE and development of clinical disease manifestations in a Korean population. Further study is warranted to clarify the role of ADAM33 in SLE pathogenesis.
Haplotypes ; Humans ; Immunoglobulin M ; Linkage Disequilibrium ; Lupus Erythematosus, Systemic* ; Odds Ratio ; Polymorphism, Single Nucleotide ; Real-Time Polymerase Chain Reaction

Bywaters and beall first reported rhabdomyolysis during World War II; the pigmented casts were found in renal tubules of 4 patients who died of acute renal failure after crushing injury. Since then, several cases of rhabdomyolysis with or without acute renal failure have been reported. The causes such as surgical injuries, excessive exercise, and drug abuse have been suggested as possible etiologies of rhabdomyolysis. Rhabdomyolysis is a clinical syndrome as a result of releasing of myocyte components from the injured striated muscles into blood stream. Clinical manifestations have ranged from asymptomatic elevation of creatinine kinase to acute renal failure which is a life threatening medical emergency. The most common cause of rhabdomyolysis is traumatic muscular injury. The others include alcohol abuse, metabolic disorder, drug, toxins, carbon monoxide poisoning, burn, vascular occlusion, excessive exercise, and bacterial or viral infections and sepsis. Among these, rhabdomyolysis caused by Group A beta-hemolytic streptococcus is very rare. However, rhabdomyolysis due to pharyngitis has not been reported. We report a case of rhabdomyolysis associated with Group A beta-hemolytic streptococcus.
Acute Kidney Injury ; Alcoholism ; Burns ; Carbon Monoxide Poisoning ; Creatinine ; Emergencies ; Humans ; Intraoperative Complications ; Muscle Cells ; Muscle, Striated ; Pharyngitis ; Phosphotransferases ; Rhabdomyolysis* ; Rivers ; Sepsis ; Streptococcus ; Substance-Related Disorders ; World War II