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

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

The family of T-cell immunoglobulin domain and mucin domain (TIM) proteins is identified to be expressed on T cells. A member of Tim family, Tim-3 (T cell immunoglobulin mucin 3) is selectively expressed on the surface of differentiated Th1 cells. Tim-3 might have an important role in the induction of autoimmune diseases by regulating macrophage activation and interacts with Tim-3 ligand to regulate Th1 responses. To determine the variation sites in the coding and promoter region of human Tim-3 gene, we performed variation scanning by direct sequencing using the genomic DNA isolated from the patients with asthma or allergic rhinitis and healthy controls without asthma and allergic rhinitis. We identified four single nucleotide polymorphisms (SNPs) including one novel SNPs (-1541C>T) and two variation sites (-1292_-1289delTAAA and -1282_-1278dupTAAAA) in the coding and promoter region of human Tim-3 gene in both the patients and healthy groups.
Asthma/genetics ; Exons/genetics ; Gene Frequency/genetics ; Humans ; Membrane Proteins/*genetics/metabolism ; Polymorphism, Single Nucleotide/*genetics ; Promoter Regions (Genetics)/genetics ; Research Support, Non-U.S. Gov't ; Respiratory Hypersensitivity/*genetics ; Rhinitis, Allergic, Perennial/genetics ; Th1 Cells/metabolism

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

Interferons play critical roles in tumor pathogenesis by controlling apoptosis and through cellular anti-proliferative and differentiation activities. Interferon inducible transmembrane protein (IFITM) family genes have been implicated in several cellular processes such as the homotypic cell adhesion functions of IFN and cellular anti-proliferative activities. Expression levels of IFITM genes have been found to be up-regulated in gastric cancer cells and colorectal tumors. IFITM3 (also known as 1-8U) is a member of the IFITM family, and has been described as a key player in specification of germ cell fate. IFITM3 was first isolated from a genetic screen aimed at identifying genes involved in acquisition of germ cell competence. It has been proposed that epiblast cells have the highest expression of IFITM3 initiated germ cell specification and that homotypic association can discriminate germ cells from their somatic neighbors. In an attempt to better understand the genetic influences of IFITM3 on ulcerative colitis, we have identified possible variation sites and single nucleotide polymorphisms (SNPs) through two exons and their boundary IFITM3 intron sequences including the ~2.1 kb promoter regions. To determine whether or not these IFITM3 SNPs are associated with susceptibility to ulcerative colitis, frequencies of the genotype and allele of IFITM3 polymorphisms were analyzed on genomic DNAs isolated from patients with ulcerative colitis and from healthy controls. We also investigated the haplotype frequencies constructed by these SNPs in both groups. In this study, we also showed that expression level of IFITM3 mRNA was significantly higher in tissues of the ileum and cecum of the digestive system. We identified a total of seven SNPs and multiple variation regions in the IFITM3 gene. The genotype frequency of the g.-204T>G polymorphism in patients with ulcerative colitis was significantly different from that of the control group. Our results strongly suggest that polymorphisms of the IFITM3 gene may be associated with susceptibility to ulcerative colitis.
Cecum/*metabolism ; Colitis, Ulcerative/epidemiology/*genetics/immunology ; Gene Expression Profiling ; Gene Frequency ; Genetic Association Studies ; Genetic Predisposition to Disease ; Haplotypes ; Ileum/*metabolism ; Korea ; Membrane Proteins/*genetics/immunology/metabolism ; Organ Specificity ; Polymorphism, Single Nucleotide ; RNA-Binding Proteins/*genetics/immunology/metabolism