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*

No abstract available.
Heart Septal Defects, Atrial* ; Hemodynamics*

No abstract available.
Genioplasty*

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

BACKGROUND: Recently, a great deal of interest has been focused on the use of hydroxyurea and hemin that may augment Hb F levels in patients with hemoglobinopathies and thalassemia, although the molecular mechanism of those chemicals remains unclear. In this study, we examined the effects of hydroxyurea and hemin on human adult peripheral and cord blood erythroid cells grown in a two-phase liquid culture system. METHODS: Four adult peripheral and four cord blood cells were cultured in two-phase liquid culture, and were treated with hydroxyurea or hemin. We counted isolated erythroid cells by acid benzidine and glycophorin A stains. To determine whether transcription factor binding to the promoter is critical, we also examined the promoter region of gamma globin gene both under uninduced and hydroxyurea or hemin induced conditions using gel mobility shift assay and southwestern blot analysis. RESULTS: When added together with erythropoietin, hydroxyurea led to significant increase in the percentage of erythroid cells in cord blood. In contrast, hemin greatly accelerated hemoglobin accumulation in adult erythroid progenitor cells. At -230 and -264 regions of gamma globin gene promoter, different protein binding patterns were observed in uninduced and hydroxyurea or hemin induced conditions between adult and cord blood. CONCLUSIONS: These results suggest that hydroxyurea and hemin may act via alteration in DNA-protein interactions to induce gamma globin gene expression. In addition, we can conclude that different transcription factors may be involved in the gamma globin induction process between the adult and cord blood erythroid cells.
Adult ; Blotting, Southwestern ; Coloring Agents ; Electrophoretic Mobility Shift Assay ; Erythroid Cells ; Erythroid Precursor Cells* ; Erythropoietin ; Fetal Blood ; gamma-Globins* ; Gene Expression ; Glycophorin ; Hemin ; Hemoglobinopathies ; Humans ; Hydroxyurea* ; Promoter Regions, Genetic* ; Protein Binding ; Thalassemia ; Transcription Factors

OBJECTIVE: It was to analyze two failed arterial embolization cases in the treatment for pseudoaneurysm followed by D&C. METHODS: Two failure cases out of eight cases were gained in the transarterial embolization treatment for eight years.(1. 1. 1992 - 12. 31. 1999) To search for the factors of failure, we went through obstetrical history and biopsy. RESULTS: Eight cases of transarterial embolization were performed to the treatment for pseudoaneurysm appeared after undergoing D&C. Six cases were successfully treated without complications. However, laparotomy was done due to the continuous bleeding in the other two cases. According to tissue biopsy, they showed the cervical pregnancy in one case and placenta accreta in the other. CONCLUSION: Transarterial embolization is proved to be more preferable to operate in the treatment of pseudoaneurysm than laparotomy, and transarterial embolization therapy failure rate is higher in case of existing remnant villi than not.
Aneurysm, False* ; Biopsy ; Dilatation and Curettage* ; Female ; Hemorrhage ; Hysterectomy ; Laparotomy ; Placenta Accreta ; Pregnancy

Castleman's disease is characterized by a massive growth of lymphoid tissue. Since first report in 1956, multiple terms have been used to describe Castleman's disease, including lymph nodal harmatoma, angiofollicullar lymph node hyperplasia, benign giant lymphoma and giant lymph node hyperplasia. Castleman's disease is rare and poor by understood and the optimal therapy is unknown. There are two basic pathologic types in Castleman's disease: Hyaline-vascular type and plasma cell type. Hyaline- vascular type tends to be asymptomatic and is more common in the localized form. Here we report a case of hyaline-vascular type Castleman's disease in retroperitoneum and review previous reports.
Giant Lymph Node Hyperplasia* ; Hyperplasia ; Lymph Nodes ; Lymphoid Tissue ; Lymphoma ; Plasma Cells ; Retroperitoneal Neoplasms

Fetal nucleated erythrocytes circulating in maternal blood are a potential source of fetal DNA for noninvasive prenatal genetic diagnosis. However, the estimated ratio of fetal to maternal cells is extremely small. In order to enrich these cells, we performed direct culture using a two-phase liquid system. Mononuclear cells were obtained from maternal blood samples at 8-10(+3) weeks of gestation and cultured in the first phase. After 4-5 days, the nonadherent cells were harvested and recultured with erythropoietin in the second phase for another 3-5 days. We examined cellular morphology, and counted the number of benzidine- positive cells and the percentage of glycophorin A/CD71 positive erythroid cells. We also did Kleihauer-Betke stain for Hb F, polymerase chain reaction (PCR) for SRY/DYZ1, chromosome analysis, and fluorescence in situ hybridization (FISH). The number of total erythroid cells reached about 0.1x10(6)-1.0x10(6)/mL with a purity of 84.0-97.3%. Hb F stain showed total erythroid cells of approximately 0.4x10(4)-9.8x10(4)/mL. Male DNA was detected in one case by PCR. In this case, the XY karyotype was confirmed by FISH and amniocentesis. This approach provides enriched source of fetal cells for further prenatal genetic analysis without complicated separation or sorting procedures.
Cell Culture/methods ; Cell Separation/*methods ; Chromosome Abnormalities/diagnosis ; *Erythroblasts ; Female ; Genetic Screening ; Human ; *In Situ Hybridization, Fluorescence ; Karyotyping ; *Maternal-Fetal Exchange ; Pregnancy ; sPrenatal Diagnosis/*methods

PURPOSE: Proper education of hospice professionals is essential for ensuring quality of end-of-life care. In 2005, 'End-of-life Care Task Force Team' by Ministry of Health and Welfare established '60 hours of hospice education' as basic requirement for hospice professionals. This study is aimed to determine how many of the hospice professionals meet with the criteria and whether there are significant regional variations. METHODS: We analyzed the data from 46 hospice organizations, which submitted the application to the 2008 designation program of Ministry of Health, Welfare, and Family Affairs. Data included details of the educational records of each hospice professionals. RESULTS: Total 673 hospice professionals were included in the analysis. Overall, only 41.5% (279/673) met the requirement. Nurses (46.8%; 177/378) were more likely to meet the requirement than doctors (35.8%; 38/106), social workers (32.0%; 24/75) and clergies (35.1%; 40/114). Hospice professionals of the organizations in metropolitan area received more education than those in small cities or rural area (52.4% vs. 25.0% for doctors, 50.6% vs. 43.9% for nurses, 42.9% vs. 25.5% for social workers). By geographic areas, hospice professionals in southeast regions received less education than other part of Korea (28.1% vs. 43.0~48.8%, respectively). CONCLUSION: Less than half of the Korean hospice professionals has received proper amount of hospice education, and significant regional variations existed. National programs to promote the education of hospice professionals and eliminate its disparities are greatly warranted. Implementation of the 60-hour currirulum for hospice professionals, based on the train-the-trainer model, would be regarded as one potential solution.
Advisory Committees ; Clergy ; Hospices ; Humans ; Korea ; Palliative Care ; Social Workers