Leiomyosarcoma of the soft tissue is a well-defined and characteristic entity histologically, but cytomorphological studes are lacking. A correlaive cytological study of 2 cases of leiomyosarcoma is presented. The smears from case 1 were rich in tumor cells and most cells were arranged in large sheets or clusters. The cells showed round to oval nuclei containing fine chromatin and small promiment nucleoli. The smears from case 2 were moderate in cellularity with loose clusters or isolated cells. The characteristic blunt-ended and cigar-shaped nuclei containing coarse chromatin and prominent nucleoli were identified in case 2. Nuclear atypia, prominent nucleoli and high cellularity permit diagnosis of malignancy, although the atypia is generally less pronounced than in the histology. The cytological diagnosis of leiomyosarcoma may be auxiliary in the diagnosis of recurrence or metastasis in the patients with alleged leiomyosarcoma.
Child* ; Chromatin ; Diagnosis ; Dialysis* ; Humans ; Leiomyosarcoma ; Lipoproteins* ; Neoplasm Metastasis ; Recurrence

PURPOSE: To perform and compare differential diagnosis of patients with thyroid-associated myopathy, idiopathic orbital myositis and normal controls based on orbital computed tomography. Orbital fat and extraocular muscle densities were quantified using Hounsfield Unit (HU) and their characteristics were compared and analyzed. METHODS: From February 2005 to January 2013, orbital computed tomography was performed on 90 eyes of 47 thyroid-associated myopathy patients, 18 eyes of 14 idiopathic orbital myositis patients and 280 eyes of 140 normal subjects. The average values of orbital fat and extraocular muscle densities were measured and compared using HU. The density differences between the patients with thyroid-associated myopathy and the normal group were analyzed by age, clinical activity score, ocular protrusion and disease duration. RESULTS: In the thyroid-associated myopathy group, orbital fat and extraocular muscle densities were -87.8 +/- 12.5 HU and 48.7 +/- 7.1 HU, respectively. In the idiopathic orbital myositis group, the orbital fat and extraocular muscle densities were 79.9 +/- 9.9 HU and 49.2 +/- 9.1 HU, respectively. There was a statistically significant lower result of orbital fat in the thyroid-associated myopathy group (p = 0.002), however, the extraocular muscle density did not show a statistically significant difference (p = 0.775). The orbital fat and extraocular muscle densities of the normal group were -79.0 +/- 11.2 HU and 54.3 +/- 6.3 HU, respectively. There were significantly lower results in both orbital fat and extraocular muscle densities in the thyroid-associated myopathy group than normal group (p = 0.000). In active cases and those accompanied by ocular protrusion, there was no significant difference in orbital fat density (p = 0.345 and p = 0.952, respectively), while extraocular muscle density significantly decreased (p = 0.007 and p = 0.003, respectively). CONCLUSIONS: A difference between the orbital fat and extraocular muscle densities in thyroid-associated myopathy and idiopathic orbital myositis could be quantitatively found using HU and orbital computed tomography.
Diagnosis, Differential ; Humans ; Muscles* ; Muscular Diseases* ; Orbit* ; Orbital Myositis*

Non-typhoidal Salmonella (NTS) is an important commensal microorganism. The purpose of this study was to determine the epidemiological relation between NTS isolates from livestock and NTS isolates from human by analyzing antimicrobial susceptibilities and performing molecular typing. We determined the serotypes of 36 human clinical isolates and 64 livestock isolates, performed antimicrobial susceptibility testing against 8 antibiotics, and determined the molecular types of isolated NTS spp. by pulsed field gel electrophoresis (PFGE). In human isolates, S. enteritidis was the most common serotype (17 isolates; 47.2%) and S. typhimurium the second most (8 isolates; 22.2%). In livestock isolates, S. typhimurium was the most common serotype (15 isolates; 23.44%), and S. enteritidis was the second most (14 isolates; 21.88%). Ampicillin and tetracycline resistance were 50% (32/64 isolates) each among broiler-chicken NTS isolates. No human or livestock NTS isolates showed resistance to ciprofloxacin, TMP-SMX, or ceftriaxone. However, 19.4% (7/36) and 46.8% (30/64) of the human and livestock NTS isolates were resistant to nalidixic acid (MIC > or =16 mg/mL), respectively. The presence of the three identical PFGE molecular types from human and broiler-chicken NTS isolates suggests the possibility of transmission from livestock to humans.
Adult ; Animals ; Chickens ; Cluster Analysis ; Drug Resistance, Bacterial ; Female ; Humans ; Korea ; Male ; Nalidixic Acid/pharmacology ; Salmonella Infections/epidemiology/metabolism/*microbiology ; Salmonella Infections, Animal/epidemiology/metabolism/*microbiology ; Salmonella enteritidis/metabolism ; Salmonella typhimurium/*metabolism ; Serotyping

BACKGROUND: Target point mutation of DNA topoisomerase, which is the typical mode of quinolone resistance, cannot explain high level resistance to quinolones. Therefore, many authors looked into over expression of efflux pump as the possibility. After quantificating the arcA mRNA, which controls AcrAB- TolC, the authors tried to find out the difference in the expression of arcA mRNA according to MIC of ciprofloxacin. The authors also tried to determine the usefulness of real time PCR, which is more reproducible and takes less time than preexisting immunoblot assay, through quantification of acrA. MATERIAL AND METHODS: Mutations in topoisomerase (GyrA, ParC) of 20 quinolone resistant E. coli isolates were identified by PCR and direct DNA sequencing. AcrA level was measured by real time PCR. GAPDH of E.coli was used as endogenous control. The expression of acrA was confirmed through northern hybridization method, the results obtained by real time PCR were compared. RESULTS: 1) Topoisomerase mutations were found in all quinolone resistant E. coli strains. 2) AcrA expression in fluoroquinolone-resistant E. coli was quantified by using real time PCR. There was no relationship between the ratio of acrA expression to GAPDH and MIC of ciprofloxacin. 3) With Northern hybridization, we compared the band of acrA to that of GAPDH in compactness and area. No difference in the expression according to MIC could be found. 4) The results of AcrA/GAPDH were significantly correlated between the real-time PCR and northern blot (P<0.05, correlation coefficiency 0.98). CONCLUSION: In this study, no relationship between overexpression of AcrA gene and high level fluoroquinolone resistance. Therefore, we assume that mechanism other than AcrAB efflux pump is involved in and contribute to high-level fluoroquinolone resistance. However, the degree of efflux pump expression could be confirmed with real time PCR using acrA mRNA. Therefore, real time PCR could be used in the molecular biologic study on the mechanism of resistance to antibiotics.
Anti-Bacterial Agents ; Blotting, Northern ; Ciprofloxacin ; DNA Topoisomerases, Type I ; Escherichia* ; Fluoroquinolones* ; Point Mutation ; Polymerase Chain Reaction ; Quinolones ; Real-Time Polymerase Chain Reaction* ; RNA, Messenger ; Sequence Analysis, DNA

BACKGROUND: Target point mutation of DNA topoisomerase, which is the typical mode of quinolone resistance, cannot explain high level resistance to quinolones. Therefore, many authors looked into over expression of efflux pump as the possibility. After quantificating the arcA mRNA, which controls AcrAB- TolC, the authors tried to find out the difference in the expression of arcA mRNA according to MIC of ciprofloxacin. The authors also tried to determine the usefulness of real time PCR, which is more reproducible and takes less time than preexisting immunoblot assay, through quantification of acrA. MATERIAL AND METHODS: Mutations in topoisomerase (GyrA, ParC) of 20 quinolone resistant E. coli isolates were identified by PCR and direct DNA sequencing. AcrA level was measured by real time PCR. GAPDH of E.coli was used as endogenous control. The expression of acrA was confirmed through northern hybridization method, the results obtained by real time PCR were compared. RESULTS: 1) Topoisomerase mutations were found in all quinolone resistant E. coli strains. 2) AcrA expression in fluoroquinolone-resistant E. coli was quantified by using real time PCR. There was no relationship between the ratio of acrA expression to GAPDH and MIC of ciprofloxacin. 3) With Northern hybridization, we compared the band of acrA to that of GAPDH in compactness and area. No difference in the expression according to MIC could be found. 4) The results of AcrA/GAPDH were significantly correlated between the real-time PCR and northern blot (P<0.05, correlation coefficiency 0.98). CONCLUSION: In this study, no relationship between overexpression of AcrA gene and high level fluoroquinolone resistance. Therefore, we assume that mechanism other than AcrAB efflux pump is involved in and contribute to high-level fluoroquinolone resistance. However, the degree of efflux pump expression could be confirmed with real time PCR using acrA mRNA. Therefore, real time PCR could be used in the molecular biologic study on the mechanism of resistance to antibiotics.
Anti-Bacterial Agents ; Blotting, Northern ; Ciprofloxacin ; DNA Topoisomerases, Type I ; Escherichia* ; Fluoroquinolones* ; Point Mutation ; Polymerase Chain Reaction ; Quinolones ; Real-Time Polymerase Chain Reaction* ; RNA, Messenger ; Sequence Analysis, DNA

Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members in 3 consecutive generations and describe the detailed ophthalmologic findings for one of these members. As expected, mutational analysis revealed a nonsense mutation (p.Ser122*) in the PAX6 gene. Thus, our findings reiterate the importance of PAX6 mutations in congenital aniridia.
Aniridia* ; Codon, Nonsense ; Family Characteristics ; Genes, Essential ; Humans ; Iris ; WAGR Syndrome ; Wilms Tumor

PURPOSE: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disoder of beta oxidation of fatty acids and characterized by episodic hypoglycemia, vomiting, convulsion, encephalopathy, apnea, and sudden death related to fasting or infection resembling Reye syndrome or sudden infant death syndrome. In acute stage, mortality rate is very high and survivors have significant risk of developmental disability and chronic somatic illness. However, the high mortality and morbidity can be totally prevented by appropriate dietary management on the basis of early and accurate diagnosis. Recently, a single point mutation (A985G) in the MCAD gene has been described that accounts for most of MCAD deficiency. The prevalence of MCAD deficiency shows marked racial differences. And population-based DNA screening for this potentially fatal disorder might be justified in countries with high frequency of the mutation. The prevalence of A985G mutation in the MCAD gene was studied in neonates using Guthrie cards for neonatal screening. METHODS: Dried blood spots on Guthrie cards originally used for neonatal screening programs obtained from 500 live newborn babies born in a private obstetric clinic or Seoul Red Cross Hospital in Seoul during the period from Jan. 1, 1995 to Jul. 31, 1995 were collected. DNA was extracted from the dried blood spots, and a segment of the MCAD gene was amplified from the DNA using polymerase chain reaction technique. The PCR products were electrophoresed on a polyacrylamide gel after treatment of a restriction enzyme, NcoI. And the restriction pattern was analyzed with ethidium bromide staining of the gel. RESULTS: The PCR was successful with all DNAs from Guthrie cards. And the A to G transition at nucleotide position 985 in the MCAD gene was not demonstrated in any of the specimen. Conlusions : 1) The frequency of A985G mutation in the MCAD gene is extremely low in Korean population. 2) The methodology used in this study can be applied to population-based molecular genetic studies for other hereditary diseases.
Acyl-CoA Dehydrogenase* ; Apnea ; Death, Sudden ; Developmental Disabilities ; Diagnosis ; DNA ; Ethidium ; Fasting ; Fatty Acids ; Genetic Diseases, Inborn ; Genetics, Population ; Humans ; Hypoglycemia ; Infant, Newborn* ; Mass Screening ; Molecular Biology ; Mortality ; Neonatal Screening ; Point Mutation ; Polymerase Chain Reaction ; Prevalence* ; Red Cross ; Reye Syndrome ; Seizures ; Seoul ; Sudden Infant Death ; Survivors ; Vomiting

PURPOSE: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disoder of beta oxidation of fatty acids and characterized by episodic hypoglycemia, vomiting, convulsion, encephalopathy, apnea, and sudden death related to fasting or infection resembling Reye syndrome or sudden infant death syndrome. In acute stage, mortality rate is very high and survivors have significant risk of developmental disability and chronic somatic illness. However, the high mortality and morbidity can be totally prevented by appropriate dietary management on the basis of early and accurate diagnosis. Recently, a single point mutation (A985G) in the MCAD gene has been described that accounts for most of MCAD deficiency. The prevalence of MCAD deficiency shows marked racial differences. And population-based DNA screening for this potentially fatal disorder might be justified in countries with high frequency of the mutation. The prevalence of A985G mutation in the MCAD gene was studied in neonates using Guthrie cards for neonatal screening. METHODS: Dried blood spots on Guthrie cards originally used for neonatal screening programs obtained from 500 live newborn babies born in a private obstetric clinic or Seoul Red Cross Hospital in Seoul during the period from Jan. 1, 1995 to Jul. 31, 1995 were collected. DNA was extracted from the dried blood spots, and a segment of the MCAD gene was amplified from the DNA using polymerase chain reaction technique. The PCR products were electrophoresed on a polyacrylamide gel after treatment of a restriction enzyme, NcoI. And the restriction pattern was analyzed with ethidium bromide staining of the gel. RESULTS: The PCR was successful with all DNAs from Guthrie cards. And the A to G transition at nucleotide position 985 in the MCAD gene was not demonstrated in any of the specimen. Conlusions : 1) The frequency of A985G mutation in the MCAD gene is extremely low in Korean population. 2) The methodology used in this study can be applied to population-based molecular genetic studies for other hereditary diseases.
Acyl-CoA Dehydrogenase* ; Apnea ; Death, Sudden ; Developmental Disabilities ; Diagnosis ; DNA ; Ethidium ; Fasting ; Fatty Acids ; Genetic Diseases, Inborn ; Genetics, Population ; Humans ; Hypoglycemia ; Infant, Newborn* ; Mass Screening ; Molecular Biology ; Mortality ; Neonatal Screening ; Point Mutation ; Polymerase Chain Reaction ; Prevalence* ; Red Cross ; Reye Syndrome ; Seizures ; Seoul ; Sudden Infant Death ; Survivors ; Vomiting

Hepatic veno-occlusive disease (VOD) is characterized by the narrowing or fibrous obliteration of terminal hepatic venules and small sublobular veins. The obliteration of blood flow may lead to tender hepatomegaly, ascites, hepatocellular necrosis, and possibly encephalopathy. Hepatic VOD is a well described complication after allogeneic and autologous stem cell transplantation (SCT) for malignancy. The intergroup rhabdomyosarcoma study (IRS) group has extensively used the combination chemotherapy of vincristine, actinomycin-D, and cyclophosphamide (VAC) for the treatment of rhabdomyosarcoma and hepatic VOD was rarely reported after the administration of VAC chemotherapy. We report a case of severe hepatic VOD which occurred in a 7 year-old boy with stage III rhabdomyosarcoma after VAC chemotherapy according to IRS-IV regimen. He developed persistent thrombocytopenia, tender hepatomegaly, jaundice, weight gain due to ascites and generalized edema, and was treated successfully with N-acetylcysteine, nitrate, green tea polyphenol, glutathione and vitamin E.
Acetylcysteine ; Ascites ; Child ; Cyclophosphamide* ; Drug Therapy ; Drug Therapy, Combination* ; Edema ; Glutathione* ; Hepatic Veno-Occlusive Disease* ; Hepatomegaly ; Humans ; Jaundice ; Male ; Necrosis ; Rhabdomyosarcoma ; Stem Cell Transplantation ; Tea ; Thrombocytopenia ; Veins ; Venules ; Vincristine* ; Vitamin E* ; Vitamins* ; Weight Gain

Rituximab, a chimeric anti-CD20 IgG1 monoclonal antibody, has been used as a rescue therapy for steroid-dependent or refractory nephrotic syndrome. However, the adverse effects of rituximab are yet to be investigated. We report a case of a 9-year-old boy with steroid-dependent nephrotic syndrome who developed Kikuchi-Fujimoto disease after several cycles of rituximab therapy. Kikuchi-Fujimoto disease is a benign, self-limited necrotizing histiocytic lymphadenitis of unknown etiology. In the present case, Kikuchi-Fujimoto disease developed when the peripheral blood B-cell count of the patient was at nadir, and the lesion regressed slowly but spontaneously after recovery of the B-cell count. To our knowledge, although the pathologic diagnosis of Kikuchi-Fujimoto disease was unavailable, this is the first report of Kikuchi-Fujimoto disease with clinical diagnosis as a possible adverse effect of rituximab.
Antibodies, Monoclonal, Murine-Derived ; B-Lymphocytes ; Child ; Histiocytic Necrotizing Lymphadenitis ; Humans ; Immunoglobulin G ; Lymphadenitis ; Nephrotic Syndrome ; Rituximab