BACKGROUND: Recent DNA polymorphism analysis using numerous DNA markers has been used to determine the parental origin of the extra chromosome 21 in Down syndrome. In this study we used seven dinucleotide repeat polymorphisms on chromosome 21 to characterize a case of rea(21q21q) and to know whether it is consistent with an isochromosome or a true Robertsonian translocation. METHODS: Cytogenetic investigation was done by conventional G banding DNA was extracted from whole blood of a proband and her parents and was amplified by PCR using seven sets of (GT)n repeat dinucleotide markers located on the long arm of chromosome 21 After electrophoresis of the PCR product in polyacrylamide gel and silver staining the parental origin and number of DNA copy were determined by visual comparison of the band intensities within and between individuals. RESULTS: Conventional cytogenetics showed that the proband had a 46.XX.re(21q21q) chromosome pattern. Parental chromosome studies were normal, therefore, the rearrangement was a de novo event. All seven DNA markers showed one or two alleles, demonstrating rea(21q21q) to be an isochromosome. For D21S215 and D21S156 markers both parents were heterozygous and the proband inherited one copy of paternal allele and two copies of maternal allele which both parents did not share. This finding was consistent with a maternally derided isochromosome. CONCLUSION: Use of dinucleotide repeat DNA polymorphisms after PCR amplification will be very useful to detect the parental origin of additional chromosome 21 or rearrangement of chromosome 21 in Down syndrome. Besides employing siltier staining of a PCR product we will be able to avoid using of radioisotopes and apply to clinical laboratory diagnosis.
Alleles ; Arm ; Chromosomes, Human, Pair 21 ; Clinical Laboratory Techniques ; Cytogenetics ; Dinucleotide Repeats* ; DNA ; Down Syndrome ; Electrophoresis ; Genetic Markers ; Humans ; Isochromosomes ; Parents ; Polymerase Chain Reaction ; Radioisotopes ; Silver Staining

No abstract available.
Carcinoma, Renal Cell* ; Genes, Tumor Suppressor*

BACKGROUND: The K562 erythroleukemia cell line was used to study the molecular mechanisms regulating lineage commitment of hematopoietic cells. There are numerous similarities between the erythroid or megakaryocytic lineages. In this study, we examined role of the region -269~-240 of gamma-globin gene promoter in fetal hemoglobin expression during either erythroid or megakaryocytic differentiation. METHODS: K562 cells were cultured and treated with differentiation inducers. Hemoglobin content was scored by benzidine staining, and hemoglobin F was stained by acid elution technique. To determine whether transcription factor binding to the gamma-globin gene promoter is critical to lineage determination, DNA-protein interaction of gamma-globin gene promoter was examined under both uninduced and induced conditions of K562 cells using gel mobility shift assay and southwestern blot analysis. RESULTS: Phorbol 12-myristate 13-acetate (PMA) induced a megakaryocytic differentiation, but suppressed erythroid differentiation. On the other hand, hydroxyurea (HU), hemin, n-butanol, and sodium butyrate (NaB) induced the expression of erythroid phenotypes. Parallel to hemoglobinization, increase in gamma-globin mRNA was observed in HU- and hemin-treated K562 cells. Gel mobility shift assay and southwestern blot analysis revealed that binding of a erythroid-specific protein (p120) to the region -269~-240 of gamma-globin gene promoter occurred with treatment of erythroid differentiation inducers and did not occur with treatment of PMA. CONCLUSION: These results suggest that erythroid differentiation inducers may act via DNA- protein interaction at the gamma-globin gene promoter region to induce erythroid differentiation.
1-Butanol ; Blotting, Southwestern ; Butyric Acid ; Cell Line ; Electrophoretic Mobility Shift Assay ; Fetal Hemoglobin ; gamma-Globins* ; Hand ; Hemin ; Hydroxyurea ; K562 Cells ; Leukemia, Erythroblastic, Acute ; Phenotype ; Promoter Regions, Genetic ; RNA, Messenger ; Transcription Factors

OBJECTIVES: The purpose of this research is to help solve adolescent issues involving substance uses, which may become begin to undergo many changes(i. e. practising various roles, thereby leading to independent life styles). More often than not, adolescent drug problems develop into social problems, chiefly behavioral imitations and heavy dependence on medicine. The authors conducted a survey of adolescent substance uses to develop preventive measures against the drug habit prevalent among young people, thereby formulating a policy to deal with problematic community. Funded by a Youth Counselling Center in the city of H. the research was conducted on the following assumptions that there will be:Firstly, a comparison of drug uses by sex and age:Secondly, variance of substance users by family background and peer group:Thirdly, a combination of heavy drinking, smoking and delinquency resulting in the drug habit. METHODS: The survey included a total of 1613 students during 3 days, 12 through 14, July, 1999. The subjects were 833 pupils(51.6%) from 4 middle schools and 780 students(48.4%) from 3 high schools in the city of H with a ratio of 49.5 %(males) and 50.5%(females). RESULTS: 1) Experience of substance use is most referable to drinking(59.4%) and smoking(34.4%) while given to analgesics(33.1%) among medicines, glue(0.7%) among inhalants and philophone(0.4%) among narcotics. 2) High school students found more than double the amount of smoking and drinking as well as uses of hypnotics, stimulants and sedatives by junior high school students. 3) Our resalt showed was significantly noted that non-users had a better relationship with their parents than most users. 4) Smoking and drinking problean could be more easily developing into adolescent substance uses. 5) Alcohol, cigarette, and drug users showed more misconducts than other adolescents. 6) Most adolescents believe that drinking is necessary for making friends(55.0%), while smoking is just for killing time(50.9%). 7) Drinking, smoking, and other substance users were found to develop into more problematic habits. CONCLUSION: The present survey and several others show that adolescent substance uses in Korea are on the rise. Therefore, extensive counter-measures will be necessary followed by nationwide epidemiological survey of the pending issue, with the psychiatrists participating in the campaign.
Adolescent* ; Drinking ; Drug Users ; Financial Management ; Homicide ; Humans ; Hypnotics and Sedatives ; Korea ; Narcotics ; Parents ; Psychiatry ; Smoke ; Smoking ; Social Problems ; Tobacco Products

BACKGROUND/AIMS: As a tumor marker, alpha-etoprotein is widely used. Diagnositic cut-ff value is known as 400 ng/mL in sera. This study is aimed to determine the clinical features of hepatocellular carcinoma (HCC) with reference to serum AFP levels in Korean patients. METHODS: From May 1990 to March 1998, 367 patients diagnosed as HCC, hospitalized and followed-p at Hanyang University Hospital, have been retrospectively analyzed with special reference on serum AFP level at time of diagnosis. The differences in clinical, hematological, and radiological features of HCC, as well as the survival rate in the two groups have been compared. Group 1 (N=182) was defined as an AFP level lower than 400 ng/mL, group 2 (N=185) was defined as an AFP level greater than 400 ng/mL. Comparisons were made by student's t test or chi-quare test. Survival rate was calculated from the time of diagnosis by Kaplan-eier method. Survival curves were also compared using log-ank test. P values less than 0.05 were considered significant. RESULTS: The patients with serum AFP levels above 400 ng/mL showed (1) a lower mean age; (2) a higher level of AST; (3) a higher level of AST/ALT ratio; (4) a high incidence of liver cirrhosis; (5) a high incidence of portal vein thrombosis; (6) a high incidence of positive HBsAg; (7) a low incidence of anti-CV; (8) a low incidence of small HCC but high incidence of large HCC; (9) a high incidence of more advanced TNM stage; (10) a low incidence of single nodular type and high incidence of diffuse type. CONCLUSIONS: Depending on the value of AFP, HCC has some clinical features. In hepatocellular carcinoma, high levels of AFP represent young age, HBV infection more than HCV infection and advanced disease state.
Carcinoma, Hepatocellular* ; Diagnosis ; Hepatitis B Surface Antigens ; Humans ; Incidence ; Liver Cirrhosis ; Retrospective Studies ; Survival Rate ; Venous Thrombosis

Background and Objectives: Histamine has been suggested to play an important role during allergic and inflammatory reactions, affecting allergic rhinitis and chronic rhinosinusitis. CXCL8 is a pro-inflammatory chemokine and a critical factor that causes many airway inflammatory diseases including allergic rhinitis and chronic rhinosinusitis.Materials and Method: Histamine cytotoxicity was measured by MTT assay. Real-time polymerase chain reaction was used to identify histamine type 1 receptor in nasal fibroblasts. The fibroblasts were then treated with histamine with or without a histamine type 1 receptor antagonist and the CXCL8 protein was assessed using an enzyme-linked immunosorbent assay (ELISA). The downstream signaling molecules, including phospholipase C and phospho-p50, were evaluated by western blot and immunofluorescent staining. Results: Histamine had no significant cytotoxic effect until the concentration reached 1,000 μM. Histamine type 1 receptor mRNA was expressed in nasal fibroblasts. CXCL8 protein expression level was significantly increased following histamine stimulation. However, the expression level of CXCL8 decreased when phospholipase C was inhibited by U73122. Histamine increased phospho-p50 expression as seen in western blot results. The BAY11-7082, NF-κB inhibitor significantly reduced CXCL8 production in histamine-stimulated nasal fibroblasts. Conclusion Histamine can induce the production of NF-κB controlled-chemokine CXCL8 by nasal fibroblasts, which supports a role for histamine in upper airway inflammatory diseases.

No abstract available.
Cystitis*

Bleeding and thrombocytopenia are important adverse effects of abciximab. The incidence of abciximab-induced acute profound thrombocytopenia (APT) is low. APT is defined as an abrupt drop in platelet count to <20,000/microL that occurred within 24 hours of administration of an abciximab. This is distinct from all other types of drug-induced thrombocytopenia, which requires a period of drug administration to induce sensitization. If APT occurs and is left untreated, it can cause serious hemorrhage and ischemia that may be fatal. In this case, a 45-year-old man with acute myocardial infarction was administered a bolus intravenous injection of abciximab (0.25 mg/kg), followed by a 12-hour continuous infusion (10 microgram/min) during primary coronary angioplasty. We report a case of APT that was recognized at 2 hours after the initiation of abciximab infusion and was corrected without serious complications.
Angioplasty ; Hemorrhage ; Humans ; Incidence ; Injections, Intravenous ; Ischemia ; Middle Aged ; Myocardial Infarction ; Platelet Count ; Thrombocytopenia*

Objectives: . Air pollution is an increasing global concern, and its effect on allergic inflammation has attracted the attention of many researchers. Particulate matter (PM) is a major component of ambient air pollution, and heavy metals are the primary toxic constituents of PM. As previous studies on the impact of air pollutants on allergic inflammation did not adequately mimic real-world atmospheric exposure, we developed an experimental model to investigate the effects of aerosolized air pollutants on nasal epithelial cells and fibroblasts. Methods: . We collected particulate matter 2.5 (PM2.5) samples from ambient 24-hour air samples obtained in Seoul from August 2020 to August 2022, and then conducted component analysis for metallic constituents. Primary nasal epithelial cells and nasal fibroblasts, obtained and cultured from the turbinate tissues of human participants, were treated with PM2.5. The associations of heavy metals identified from the component analysis with cytokine expression were investigated. A three-dimensional (3D)-hybrid culture model, consisting of co-culture of an air-liquid interface and nasal fibroblast spheroids, was constructed to observe the impact of aerosolized air pollutants. Results: . Among the heavy metals, Si was the predominant component of PM2.5, and Zn showed the highest correlation with the concentration of PM2.5 in Seoul. PM2.5, Zn, and Si increased the production of epithelial cell-derived cytokines, and PM2.5 and Zn exhibited similar trends with one another. Exposure of the 3D-hybrid model to aerosolized PM2.5 and Zn resulted in elevated periostin, alpha-smooth muscle actin, and fibronectin expression in fibroblast spheroids, and those without an epithelial barrier exhibited a similar increase in periostin expression. Conclusion . Ambient air pollutants in the form of aerosols increase the expression of allergic inflammatory cytokines in both nasal epithelial cells and fibroblasts. Regulations on air pollution will help reduce the global burden of allergic diseases in the future.

BACKGROUND: Although renal cell carcinoma (RCC) is the most common malignancy originated from kidney in adults, pathogenesis of RCC remains unknown. The purpose of this work is to find tumor suppressor gene in RCC. METHODS: The arbitrarily primed polymerase chain reaction (AP-PCR) has been used to detect somatic genetic alterations in RCC. DNA fingerprints generated by single arbitrary primers were compared between normal and tumor tissues of the same individuals. AP-PCR bands showing decreased intensities in tumor tissue DNA, relative to normal, have been cloned after reamplification with the same arbitrary primer. We have performed Southern blot hybridization and DNA sequencing. RESULTS: For a given primer, at least 5 differences in band patterns between normal and tumor tissues were observed and band C was deleted in tumor tissues of clear cell type RCC. We found this band was split into 3 bands. Because band C2 was consistantly deleted in tumor tissue, we decided to clone and characterize this fragment. Partial DNA sequences of this fragment showed no homology with other genes by BLAST search. Southern blot analysis showed this fragment was deleted in 2 cases of clear cell type and 1 case of mixed cell type RCC. CONCLUSIONS: These results suggest that fragment C2 might be a candidate for novel tumor suppressor gene and loss of this fragment might be necessary for malignant development to clear cell type RCC. Further characterization of this fragment is expected to give us useful informations about RCC tumorigenesis.
Adult ; Base Sequence ; Blotting, Southern ; Carcinogenesis ; Carcinoma, Renal Cell* ; Clone Cells ; DNA ; DNA Fingerprinting ; Genes, Tumor Suppressor* ; Humans ; Kidney ; Polymerase Chain Reaction ; Sequence Analysis, DNA