Glucose-6-phosphate dehydrogenase(G6PD) deficiency is the most common X- linked inherited disorder and is estimated to affect 400 million people worldwide. But the incidence of this disease is very rare in far-east Asia, especially in Korea. Many drugs and infections cause hemolytic anemia in patients with G6PD deficiency. We experienced a case of G6PD deficiency with chronic hepatitis B. The diagnosis was made by clinical symptoms, laboratory data including serologic test and bone marrow findings. We report a case of G6PD with chronic hepatitis with a brief review of related literatures.
Anemia, Hemolytic ; Asia ; Bone Marrow ; Diagnosis ; Glucose-6-Phosphate* ; Glucosephosphate Dehydrogenase Deficiency ; Hepatitis B ; Hepatitis B, Chronic* ; Hepatitis, Chronic* ; Humans ; Incidence ; Korea ; Serologic Tests

No abstract available.
Down Syndrome*

PURPOSE: The aim of this study is that the prevalence of rotavirus infection was evaluated by each group and clinical features of group A, B and C rotaviruses infections were described respectively to compare one with another. METHODS: Between January 2010 and December 2010, we enrolled a group of children below 10 years of age admitted for management of acute diarrhea at the Catholic University of Korea Bucheon St. Mary's Hospital. A total of 310 stool samples documented to be free of common bacterial pathogens were collected from children with diarrhea. The presence of group A, B or C rotavirus is indicated by amplification of DNA segments of the expected lengths after the first and second PCRs. RESULTS: In a total of 310 stool specimens, 40 (12.9%) specimens were positive for rotaviruses. These included 23 (7.4%) positive for group A, 5 (1.6%) for group B and 12 (3.9%) for group C rotaviruses. Group B rotavirus infected patients had significantly less diarrheas per day (group A: P=0.01, group C: P=0.01) and shorter duration of vomiting days (group A: P=0.03, group C: P=0.03) than those with group A and C rotaviruses infection respectively. All the group B rotaviruses had been isolated in March and October. Group C rotavirus infections were prevalent during late summer and early winter and peaked in October. CONCLUSION: These findings indicate that group B and C rotaviruses are notable causes or the contributing causes of diarrhea among infants and children in Korea.
Child* ; Diarrhea ; DNA ; Gastroenteritis* ; Gyeonggi-do ; Humans ; Infant ; Korea ; Polymerase Chain Reaction ; Prevalence* ; Rotavirus ; Rotavirus Infections ; Vomiting

No abstract available.
Humans ; In Situ Hybridization, Fluorescence* ; Infant, Newborn*

Congenital nasolacrimal duct cyst is an uncommon anomaly of nasolacrimal duct obstruction in the newborn. It is cystic dilation of the lower end of the unperforated nasolacrimal duct with intranasal extension. In such cases, the bluish-gray cyst arises beneath the inferior turbinate on nasal endoscopy. A large nasolacrimal duct cyst can fill the nasal cavity and lead to nasal obstruction. Neonates are obligate nasal breathers at birth and require several weeks to learn to breathe through the mouth. Consequently this nasal obstruction can cause significant respiratory distress. We experienced a case of bilateral nasolacrimal duct cyst presenting as neonatal respiratory distress. Diagnosis was confirmed by nasal endoscopy and CT scan. After endoscopic marsupialization of the cysts , symptom and sign of respiratory distress were rapidly resolved.
Diagnosis ; Endoscopy ; Humans ; Infant, Newborn ; Mouth ; Nasal Cavity ; Nasal Obstruction ; Nasolacrimal Duct* ; Parturition ; Tomography, X-Ray Computed ; Turbinates

PURPOSE: This study aimed to demonstrate the possible pathogenesis of granulopoiesis in patients of Kawasaki disease(KD) using quantitative analysis of G-CSF, GM-CSF and their CSFr. METHODS: The plasma levels of G-CSF, GM-CSF, G-CSFr and GM-CSFr were studied in 14 patients in the acute phase of KD; 13 children with normal peripheral white blood cell counts were used as the normal control group. The plasma concentration of G-CSF, GM-CSF were analyzed by ELISA. The G-CSFr and GM-CSFr on the peripheral granulocytes were analyzed by a quantitative flow cytometric assay and QuantiBRITE, and the quantitative changes of receptors which did not combine with G-CSF and GM-CSF were measured. RESULTS: The total number of leukocytes in KD was similar to normal control group, but the leukocytes increased according to the number of neutrophils. The plasma concentration of G-CSF were decreased similar to normal control group(P=0.133), but that of GM-CSF decreased more than the normal control group(P=0.227). The quantity of G-CSFr, GM-CSFr were revealed to be no less than the normal control(P=0.721, P=0.912). After incubation with excessive G-CSF, the expressed G-CSFr on the neutrophils were decreased in both groups(P=0.554). The quantities of expressions of GM- CSFr on the neutrophil after incubation with the excessive GM-CSF were always increased in both groups(P=0.255). The amount of GM-CSFr of neutrophils are in proportion to total white blood cells (r=0.788, P=0.035), but it wasn't in the case of KD(P=0.644). CONCLUSION: The leukocytosis in KD that mediated by increasing neutrophil was not correlated with the plasma concentrations of G-CSF and GM-CSF, and the amount of expression of G-CSFr and GM-CSFr on granulocyte. It is possible that the reduction of concentration of GM-CSF results by increasing the active GM-CSFr.
Child ; Enzyme-Linked Immunosorbent Assay ; Granulocyte Colony-Stimulating Factor* ; Granulocyte-Macrophage Colony-Stimulating Factor* ; Granulocytes* ; Humans ; Leukocyte Count ; Leukocytes ; Leukocytosis ; Mucocutaneous Lymph Node Syndrome* ; Neutrophils ; Plasma* ; Receptors, Granulocyte Colony-Stimulating Factor ; Receptors, Granulocyte-Macrophage Colony-Stimulating Factor

PURPOSE: Kawasaki disease(KD) is an important acute febrile systemic vasculitis disease. Various cytokines have been studied to evaluate the pathogenesis of vascular injury. Some cytokines have been implicated for vascular injury, but there has been no direct evidence. We compared cytokine profiles of KD with Henoch-Schonlein purpura(HSP), and febrile infections. METHODS: We investigated the serum concentrations of six cytokines and intracellular TNF-alpha and IL-6 levels in T cells and monocytes with acute KD, HSP and infections. We determined serum cytokine concentrations using the cytometric bead array method and detected intracellular TNF-alpha and IL-6 levels using QuantiBRITE and dual color flow cytometry. RESULTS: Serum IFN-gamma concentrations were increased more in KD and infections than in HSP and normal controls. Serum TNF-alpha concentrations were higher in KD and infections than in HSP and normal controls. And TNF-alpha concentrations in KD were lower than in infections. Serum IL-10 concentrations were higher in KD and in infections than in HSP and normal controls. And IL-10 concentrations in KD were higher than in infections. Serum IL-6 concentrations were higher in KD and in infections than in HSP and normal controls. Serum IL-4 and IL-2 concentrations were lower and similar to those of normal controls, respectively. However, intracellular IL-6 levels in T cells were higher in KD than in infections and intracellular IL-6 levels in monocytes were higher in KD than in infections. CONCLUSION: These results suggest that the alterations of various cytokines in KD are related to fever rather than to vasculitis. KD showed higher IL-10 levels in serum and intracellular IL-6 levels in T cell and monocyte than HSP. This reveals that the pathogenesis of KD is different from that of HSP.
Cytokines ; Fever ; Flow Cytometry ; Interferons ; Interleukin-10 ; Interleukin-2 ; Interleukin-4 ; Interleukin-6 ; Monocytes ; Mucocutaneous Lymph Node Syndrome* ; Purpura ; Systemic Vasculitis ; T-Lymphocytes ; Tumor Necrosis Factor-alpha ; Vascular System Injuries ; Vasculitis

PURPOSE: This study was conducted to evaluate epidemiological data of the viral pathogens obtained from stool exams and provide information on the regional prevalence of infectious diarrheal disease west in Gyeonggi Province, Korea. METHODS: We enrolled a cohort of children <10 years of age admitted for treatment of acute diarrhea at Bucheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea. In total, 310 fecal specimens, documented to be free of common bacterial pathogens, were collected from pediatric patients during a 12-month period from January to December 2009 and were tested for the presence of rotavirus, parechovirus, adenovirus, astrovirus, enterovirus, and norovirus using polymerase chain reaction (PCR) and reverse transcription polymerase chain reaction (RT-PCR) assay. RESULTS: The most common virus was parechovirus (16%), followed by adenovirus (15%), astrovirus (14%), rotavirus (13%), and enterovirus (5%). Interestingly, only one of the specimens was positive for norovirus. Single infection cases were detected in 173 (55.8%) of the 310 children, whereas mixed viral infections were detected in 10 (3.2%) of the same children. Viral gastroenteritis generally showed a double peak of incidence. Parechovirus, rotavirus, and adenovirus shared a similar pattern of peak incidence with overall viruses; however, astrovirus infections occurred more frequently in the spring. Eighty-five percent of the confirmed viral gastroenteritis cases developed in under 24 months. CONCLUSION: The results support the importance of parechovirus, adenovirus, astrovirus, and enterovirus as causative agents of diarrhea in children, which may be underestimated by current routine diagnostic testing.
Adenoviridae ; Child ; Child, Hospitalized ; Cohort Studies ; Diagnostic Tests, Routine ; Diarrhea ; Dysentery ; Enterovirus ; Gastroenteritis ; Humans ; Incidence ; Korea ; Norovirus ; Parechovirus ; Polymerase Chain Reaction ; Prevalence ; Reverse Transcription ; Rotavirus ; Viruses

PURPOSE: Antineutrophil cytoplasmic antibody (ANCA) has been identified in various disorders including Wegener's granulomatosis, microscopic polyarteritis and Kawasaki disease. Measuring this antibody has a diagnostic role. It facilitates monitoring disease activity and may also help understand the pathogenesis of the diseases in which it is found. We investigated the correlation between the hematologic findings and ANCA in acute Kawasaki disease and the diagnostic potential of ANCA to predict coronary artery involvement. METHODS: Thirty-eight patients who met the diagnostic criteria for Kawasaki disease were enrolled in this study. We sampled and investigated the hematologic findings and the assay of ANCA before intravenous immunoglobulin treatment and weekly echocardiographs weekly. RESULTS: There was no sexual difference between ANCA positive and negative group. The age in ANCA positive group was significantly lower than in ANCA negative group. Duration of fever before treatment in ANCA positive group were not significantly different from those in ANCA negative group. In ANCA positive group, the mean WBC count and the mean ESRs were higher than in ANCA negative group. There was no relation between ANCA and coronary artery involvement. CONCLUSION: The assays of ANCA in acute Kawasaki disease does not help to predict disease activity and coronary artery involvement.
Antibodies, Antineutrophil Cytoplasmic* ; Coronary Vessels ; Fever ; Humans ; Immunoglobulins ; Mucocutaneous Lymph Node Syndrome* ; Wegener Granulomatosis

A glucose-6-phoshate dehydrogenase variant called G6PD Riley was detected in an Korean boy with nonspherocytic hemolytic anemia. Using polymerase chain reaction based single-strand conformation polymorphism (PCR-SSCP) followed by DNA sequence analysis, we found mutation T to C at nucleotide 1139 in exon 10, resulting in a substitution of 380th amino acid isoleucine to threonine. The patient's mother was confirmed to be a heterozygote.
Anemia, Hemolytic* ; Exons ; Glucose-6-Phosphate* ; Glucosephosphate Dehydrogenase* ; Heterozygote ; Humans ; Isoleucine ; Male ; Mothers ; Oxidoreductases ; Polymerase Chain Reaction ; Sequence Analysis, DNA ; Threonine