Otocephaly is a rare malformations comprising hypoplasia or absence of the mandible (agnathia), ventromedial displacement and often fusion of external ears (synotia or otocephaly), and hypoplasia of the oral cavity (microstomia) and tongue (hypoglassia). This developmental complex represents a malformation of the first and second branchial arches and occurs sometimes with holoprosencephaly. We present the ultrasound detection of otocephaly and holoprosencephaly with cyclopia in a fetus of 27 gestational weeks 6 days. The use of three-dimensional (3-D) ultrasound made additional diagnostic ultrasound tomograms possible, and the volume reconstructions improved the imaging and the understanding of the condition.
Branchial Region ; Diagnosis* ; Ear, External ; Fetus ; Holoprosencephaly ; Mandible ; Mouth ; Tongue ; Ultrasonography

Amorphous silica particles, whose applications are increasing in many biomedical fields, are known to be less toxic than crystalline silica. In this study, the inflammatory effects of amorphous silica nanoparticles were investigated using 30-nm amorphous silica nanoparticles and human peripheral blood mononuclear cells (PBMCs) or purified monocytes. As a result, production of IL-1beta and IL-8 were increased. In addition, the mitochondrial reactive oxygen species (ROS) was detected, which may lead to mitochondrial membrane disruption. Most importantly, inflammasome formation was observed. Therefore, these results provide immunological information about amorphous silica nanoparticles and suggest that amorphous silica nanoparticles can evoke innate immune reactions in human monocytes through production of IL-1beta and IL-8.
Crystallins ; Humans ; Interleukin-8 ; Mitochondrial Membranes ; Monocytes ; Nanoparticles ; Reactive Oxygen Species ; Silicon Dioxide

BACKGROUND: In diagnoses of iron deficiency anemia(IDA) and anemia of chronic disease(ACD), bone marrow examinations, the gold standard, are too invasive. Iron parameters such as serum ferritin, iron, and total iron binding capacity(TIBC), may be altered by perturbations as varied as infection, inflammation, and malignancy. Clinically, IDA may be the initial manifestation of an occult carcinoma of the gastrointestinal tract, thus noninvasive methods with high sensitivity are now required in detecting tissue iron deficiency. In this study, we investigated the diagnostic availability of the soluble transferrin receptor(sTfR) in differential diagnosis of IDA and ACD. SUBJECTS AND METHODS: Thirty eight patients with uncomplicated IDA(ferritin <12.0 microgram/L), 22 patients with uncomplicated anemia of chronic disease(ferritin > or =60.0 microgram/L), 7 patients with combined anemia(IDA+ACD, 12.0 microgram/L< OR = ferritin <60.0 microgram/L), and 20 normal controls were included in the study. The blood levels of sTfR, hemoglobin(Hb), RBC indices, serum ferritin, serum iron, and TIBC were measured and the transferrin saturation was calculated. The sTfR levels were compared with each other group. The correlations between iron parameters and the sTfR levels were investigated in each group. RESULTS: The sTfR receptor levels were significantly higher in uncomplicated IDA patients(56.2+/-19.8 nmol/L) than in normal controls(17.9+/-3.9 nmol/L) and uncomplicated ACD patients(15.3+/-7.5 nmol/L). No difference of the sTfR concentrations was observed between ACD patients and normal controls. In combined group, four of the 7 cases showed higher sTfR values than that of normal controls. Good inverse correlation was observed between Hb and sTfR levels in uncomplicated IDA group. There were no correlations between iron parameters and sTfR levels in the other groups. CONCLUSION: Because the sTfR level was not elevated in ACD and was significantly higher in IDA, blood determination of the sTfR levels may be a useful method in differential diagnosis of IDA and ACD. The sTfR is the most useful marker expressing the functional iron deficiency without being affected by chronic diseases. Because the sTfR levels were inversely correlated with Hb in IDA patients, the combined use of two parameters, ferritin and sTfR which are the indices of storage iron and functional iron respectively, may allow accurate definition of the entire range of body iron status.
Anemia* ; Anemia, Iron-Deficiency* ; Bone Marrow Examination ; Chronic Disease* ; Diagnosis ; Diagnosis, Differential ; Ferritins ; Gastrointestinal Tract ; Humans ; Inflammation ; Iron* ; Receptors, Transferrin* ; Transferrin*

BACKGROUND: In Korea, more than 20 cases of beta-thalassemia have been reported up to date. To detect -thalassemia. Hemoglobin (Hb) fractions were measured in patients with hypochromic microcytosis, and we analyzed the hematological characteristics of these patients. METHODS: Among 359, 369 CBCs performed at Asan Medical Center, 229 patients (0.064%) showed hypochromic microcytosis with less than 75 fL of mean corpuscular volume (MCV), less than 24 pg of mean corpuscular hemoglobin (MCH), and less than 18% of red cell distribution width (RDW). We analysed Hb fractions using high performance liquid chromatography (VARIANT(TM) Hemoglobin Testing System). Iron, total iron binding capacity (TIBC), ferritin, and reticulocyte counts were measured and medical history was searched on cases with Hb A2 and F fractions more than 3.5% and 2.0%, respectively. RESULTS: Among the 229 patients with hypochromic microcysis, 44 (19.2%) showed an increased level of Hb A2 and/or F fractions. With the exclusion of 28 patients (23 children <2 years old and 5 pregnant women), 16 (7.0%) showed a significantly increased level of Hb A2 and/or F. However, all 16 patients were diagnosed as having iron deficiency anemia based on their iron status and clinical findings. Three patients who had an increased level of Hb F at more than 5% needed a further study and follow-up to rule out the diagnosis of the hereditary persistence of the fetal hemoglobin. CONCLUSIONS: No thalassemia cases were found in the study. Incidence of beta-thalassemia should be very low, less than 1/359, 369 (0.00027%), in South Korea; a larger population should be screened to detect beta-thalassemia.
Anemia, Iron-Deficiency ; beta-Thalassemia* ; Child ; Chromatography, Liquid ; Chungcheongnam-do ; Diagnosis ; Erythrocyte Indices ; Ferritins ; Fetal Hemoglobin ; Follow-Up Studies ; Humans ; Incidence ; Iron ; Korea ; Reticulocyte Count ; Thalassemia

BACKGROUND: Von Willebrand factor (vWf) plays a crucial role in the early phase of hemostasis. Acquired von Willebrand disease (vWD) due to abnormalities of vWf multimers has been reported in patients with myeloproliferative disorders (MPD) who have high platelet counts. We compared the distribution of plasma vWf antigen and large vWf multimers in samples obtained from patients with MPD and reactive thrombocytosis (RT). Furthermore, we tried to find the relationship between the decrease of large vWf multimers in plasma and the bleeding complication. METHODS: Sixteen patients with MPD and twenty-five patients with RT with more than 600x103/microliter of platelets were included in the study. The numbers of platelets and leukocytes, platelet distribution width (PDW), mean platelet volume (MPV), platelet-large cell ratio (P-LCR), vWf : Ag and vWf multimers were measured. RESULTS: The mean values of platelets and leukocytes were 1,091x103/microliter, 82.9x103/ in MPD and 763x103/, 11.4x103/ in RT (P<0.05). Platelet parameters such as MPV,PDW, P-LCR were 11.2 fL, 10.2%, 28.6% in MPD, and 9.6 fL, 9.9%, 19.6% in RT (P<0.05). The levels of vWf : Ag and large vWf multimer were 120.8 U/dL, 13.8% in MPD and 184.3 U/ dL, 20.7% in RT (P<0.05). Large vWf multimers were decreased in 11 MPDs and 2 RTs. Bleeding diathesis appeared only in 2 MPDs with decreased large vWf multimers. Platelet or leukocyte count was inversely correlated with large vWf multimers, but vWf antigen was correlated with large vWf multimer. CONCLUSION: The findings of normal vWf antigen level and decreased percentage of large vWf multimers are more frequent in MPD than in RT, and the measurement of these parameters is useful to differentiate MPD from RT. Bleeding complication in the patients with MPD with decreased large vWf multimers might be prevented by correction of decreased large vWf multimers.
Blood Platelets ; Disease Susceptibility ; Hemorrhage ; Hemostasis ; Humans ; Leukocyte Count ; Leukocytes ; Mean Platelet Volume ; Myeloproliferative Disorders* ; Plasma ; Platelet Count ; Thrombocytosis* ; von Willebrand Diseases ; von Willebrand Factor*

BACKGROUND/AIMS: Nasogastric administration of cola for dissolution of phytobezoar was reported but the mechanism is not well understood. We aimed to evaluate the efficacy of cola ingestion for upper gastrointestinal endoscopy in patients who have had distal gastrectomy. MATERIALS AND METHODS: Patients were enrolled from July 2007 to October 2007 and all previously received subtotal gastrectomy. We conducted a randomized case-control study which the patients were randomly assigned to two groups. Group A had preparation with cola and group B had no preparation. Cola preparation group ingested about 1,500 mL of cola between 7 PM to 10 PM in the evening before the procedure. Two examiners who were blinded to the type of preparation performed the endoscopy. We assessed the degree of food residue and bile reflux by Japanese classification. RESULTS: A total of 70 patients were included. The comparison of clinical and laboratory characteristics between the two groups showed no statistically significant difference. During endoscopy, food residue was less found in group A than B, but without statistically significance (group A=12.1%, group B=21.6%, P=0.087). However, bile reflux was significantly less found in group A than B (group A=36.4%, group B=67.6%, P=0.015). Multivariate analysis, cola preparation significantly reduced food residue (OR, 0.032; P=0.001) and bile reflux (OR, 0.102; P=0.001). CONCLUSIONS: Preparation with cola in the evening before endoscopic examination may provide a good quality of preparation in patient with remnant stomach after distal gastrectomy.
Asian Continental Ancestry Group ; Bile Reflux ; Case-Control Studies* ; Classification ; Cola* ; Eating* ; Endoscopy ; Endoscopy, Gastrointestinal ; Gastrectomy ; Gastric Stump* ; Humans ; Multivariate Analysis

Rapid serodiagnostic methods for Toxoplasma gondii infection in cats are urgently needed for effective control of transmission routes toward human infections. In this work, 4 recombinant T. gondii antigens (SAG1, SAG2, GRA3, and GRA6) were produced and tested for the development of rapid diagnostic test (RDT). The proteins were expressed in Escherichia coli, affinity-purified, and applied onto the nitrocellulose membrane of the test strip. The recombinant SAG1 (rSAG1) showed the strongest antigenic activity and highest specificity among them. We also performed clinical evaluation of the rSAG1-loaded RDT in 182 cat sera (55 household and 127 stray cats). The kit showed 0.88 of kappa value comparing with a commercialized ELISA kit, which indicated a significant correlation between rSAG1-loaded RDT and the ELISA kit. The overall sensitivity and specificity of the RDT were 100% (23/23) and 99.4% (158/159), respectively. The rSAG1-loaded RDT is rapid, easy to use, and highly accurate. Thus, it would be a suitable diagnostic tool for rapid detection of antibodies in T. gondii-infected cats under field conditions.
Animals ; Antigens, Protozoan/*diagnostic use/genetics ; Cat Diseases/*diagnosis ; Cats ; Chromatography, Affinity ; Escherichia coli/genetics ; *Point-of-Care Systems ; Protozoan Proteins/*diagnostic use/genetics ; Recombinant Proteins/diagnostic use/genetics ; Sensitivity and Specificity ; Serologic Tests/methods ; Toxoplasma/genetics ; Toxoplasmosis, Animal/*diagnosis ; Veterinary Medicine/*methods

Four trials of external quality assessment in diagnostic hematology were performed in 2004 with about 440 participating laboratories in Korea. We performed quality assessment for white blood cell count, hemoglobin, red blood cell count, platelet count, white cell differential count, red blood cell morphology and coagulation test. The response rate was more than 96%. The coefficients of variation in hemoglobin and RBC number was stable but variable in platelet number and WBC number according to measuring cell counts. Blood coagulation study was performed twice. Test results show wide variation according to measuring machine and reagents.
Blood Coagulation ; Cell Count ; Equidae* ; Erythrocyte Count ; Erythrocytes ; Hematology* ; Indicators and Reagents ; Korea* ; Leukocyte Count ; Platelet Count