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

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

OBJECTIVES: The aging process can influence sexual functions by physiological, pathological, behavioral and psychosocial changes. Studies on sex among elderly are scarce. However, sexual activities remain throughout life in different forms. The aim of this study was to identify sexual problems and dysfunctions among dementia patients and compare with healthy aged persons. METHODS: The sexual problems and affecting factors were evaluated by structured interview and sexual problem screening instruments for 46 dementia patients according to DSM-IV and 60 healthy Koreans aged over 60. RESULTS: 1) Frequency of erection was less than once a day in 68.0% of controls, while more than once a day in 47.6% of dementia. Trouble in attaining erection was found in 50.0% of dementia as compared with 65.4% of controls. Awake with erection was less than once a week in 37.8% of controls, while less than once a week in 22.2% and more than once a week in 10.0% of dementia. Maintaining erection was better in controls (92.0%) as compared with dementia (55.0%)(p<0.01). Number of sex partner was one in 75.0% and none in 25.0% of controls, while one in 80.0%, none in 16.0% and more than one in 4.0% of dementia. Pain during with intercourse was less in dementia (22.7%) than controls (73.2%)(p<0.001). Frequency of ejaculation and masturbation, frequency of intercourse, thoughts and dreams of sex, feeling of desire was higher in dementia than controls (p<0.05). In 41.7% of dementia patients, sexual activity cf. sexual desire was less(desired>activity). Satisfaction in sex life (41.7%), partner's satisfaction (31.8%), satisfaction with partner (45.5%) and men's interest in sex decline with age (54.5%) were higher in dementia (p<0.001, respectively). 2) The recognition of sexual problems was higher in healthy elderly (74.1%). Most of sexual dysfunctions except sexual desire disorder (83.3% in controls vs 40.0% in dementia) was higher in demetia, that is, erectile disorder (30.0%), premature ejaculation (20.0%), and orgasmic disorder (10.0%). The duration over 5 years of sexual problems was the most in both (46.7% in controls vs 53.3% in dementia). 3) Problematic sexual behaviors seen among dementia patients were obscene remarks/sexual hallucination (30.8%, respectively), public exposure (15.4%), inappropriate contact/physical contact with others/sexual seduction toward other patients (1.7%, respectively) in that order. Appea-rance time of sexual problems was over 1 year of dementia (50.0%), within 1 year of dementia (32.4%), and with the initiation of dementia (17.6%). The frequency was more than once a week in 60.0% and less than once a week in 40.0% of dementia. Place of sexual misbehavior was one's own room (68.6%), other place (22.9%), toilet (5.7%), activity therapy room (2.9%) in that order. Targets of sexual misbehavior were other patients (40.0%), caregivers (31.4%), medical personnel/others (14.3%, respectively) in that order. For the management of sexual misbehavior, most of the doctors chose non-pharmacological methods (83.9%). CONCLUSION: The sexual activity among Korean elderly with age over 60 was more active in healty controls than dementic patients, while sexual dysfunction except sexual desire disorder was more in dementic patients than healthy controls. Therefore, special interest and proper management was needed toward hypersexuality as well as sexual hypoactivity, and most of all, conceptual changes of doctors and caregivers toward sexual problems in the elderly must be preceded.
Aged* ; Aging ; Caregivers ; Dementia ; Diagnostic and Statistical Manual of Mental Disorders ; Dreams ; Ejaculation ; Hallucinations ; Humans ; Korea* ; Male ; Mass Screening ; Masturbation ; Premature Ejaculation ; Sexual Behavior ; Sexual Dysfunctions, Psychological

PURPOSE: RNase3 is a secretory ribonuclease, which is found in the eosinophilic leukocyte and involved in the innate immune system. Its cytotoxic activity is effective against a wide range of pathogens. We performed a case-control study to examine the relationship between RNase3 polymorphisms and the susceptibility of gastric cancer in Korean people. METHODS: Blood sampling of stomach cancer and healthy persons groups were performed, Taqman in g.-550A>G, polymerase chain reaction-restriction fragment length polymorphism in g.371C>G, and high-resolution melt in g.499C>G were analyzed. The three single nucleotide polymorphisms g.-550A>G, g.371C>G, and g.499C>G in RNase3 and their haplotypes were analyzed. RESULTS: The genotype and allele frequencies of RNase3 g.-550A>G and g.371C>G were not significantly increased in susceptibility of gastric cancer than control group. But, RNase3 CC genotype was associated with a significantly increased susceptibility of gastric cancer than control group (P=0.002). Also, RNase3 CC genotype was more specifically associated with a significantly increased susceptibility of middle and lower gastric cancer than upper gastric cancer (P=0.002). In haplotype of RNase3 SNP g.-550A, g.371G, and g.499C, there was significantly susceptibility of gastric cancer (P=0.004), and more specific influence on middle and lower gastric cancer than upper gastric cancer (P=0.006 vs 0.054). CONCLUSION: RNase3 g.499C>G polymorphism may influence gastric cancers, and have a more specific influence on middle and lower gastric cancer rather than upper gastric cancer. But RNase3 g.-550A>G, g.371C>G polymorphisms need careful interpretation and confirmation in more larger studies.
Case-Control Studies ; Eosinophils ; Gene Frequency ; Genotype ; Haplotypes ; Humans ; Immune System ; Leukocytes ; Polymorphism, Single Nucleotide ; Ribonucleases ; Stomach Neoplasms

Fabry disease is a progressive X-linked disorder of glycosphingolipid metabolism caused by a deficiency of the alpha-galactosidase lysosomal enzyme. The partial or complete deficiency of the lysosomal enzyme leads to an accumulation of neutral glycosphingolipids in the vascular endothelium and visceral tissues throughout the body. In the heart, glycosphingolipids deposition causes progressive left ventricular hypertrophy (LVH). We report a case of Fabry disease which was suspected based upon two-dimensional echocardiographic finding of LVH. A 44-year-old man was admitted to evaluation of aggravated exertional dyspnea of two weeks duration. He had been diagnosed with end-stage renal disease of unknown etiology at age 41 followed by renal transplantation that year. He had been treated with oral immunosuppressive agents. On hospital day two, transthoracic echocardiography revealed concentric LVH. Left ventricular systolic function was preserved but diastolic dysfunction was present. Fabry disease was confirmed by demonstration of a low plasma alpha-galactosidase A (alpha-Gal A) activity. Analysis of genomic DNA showed alpha-Gal A gene mutation. The patient was diagnosed with Fabry disease.
alpha-Galactosidase ; Cardiomyopathies ; DNA ; Dyspnea ; Echocardiography ; Endothelium, Vascular ; Fabry Disease ; Genes, vif ; Glycosphingolipids ; Heart ; Humans ; Hypertrophy, Left Ventricular ; Immunosuppressive Agents ; Kidney Failure, Chronic ; Kidney Transplantation ; Neutral Glycosphingolipids ; Plasma