Prenatal chromosome analysis of amniotic cells at 18 weeks of gestation showed a male fetus to carry a large 15p+ derivative chromosome inherited from his mother. Extra genetic material on the short arm of chromosome IS was silver-negative with Ag-NOR (nucleolus organizer regions) stain, but stained darkly with C-banding method like the distal heterochromatic segment of the Y long arm. Fluorescence in situ hybridization (FISH) using two DNA probes (DYZ1 and D15Zl) showed a red fluorescent signal on 15p+ In addition to a green chromosome 15 centromere signal, confirming 15p to be from the distal Yq heterochromatin.
Arm ; Centromere ; Chromosomes, Human, Pair 15 ; DNA Probes ; Fetus ; Fluorescence ; Heterochromatin ; Humans ; In Situ Hybridization ; Male ; Mothers ; Pregnancy

BACKGROUND: Hemophilia A is the most common X-linked bleeding disorder with an incidence of 1/5,000 males. Inversions within the factor VIII gene cause almost half of all cases of severe hemophilia A. However, DNA-based diagnosis has previously been carried out only by linkage analysis in Korean hemophilia A families. In this study, we aimed to establish direct inversion detection using a single-tube polymerase chain reaction (PCR) assay. METHODS: We have modified a single-tube PCR assay that combines overlapping PCR with long-distance PCR; performing PCR directly from genomic DNA with four primers P, Q, A, and B that differentiate the wild type, inversion, and the carrier detected the inversion. RESULTS: Segments PQ (12 kb) and AB (10 kb) were produced in hemizygous wild-type males. Males with hemophilia A due to the inversion showed segments PB+AQ (11 kb) along with the 10 kb segment from the nonrecombined extragenic homologue. In 20 (18.7%) patients, an inversion was found. The three segments were readily identifiable and all PCR amplifications achieved uniform reproducible results. CONCLUSIONS: The PCR was successful for the direct detection of factor VIII gene inversions. The method is simple, inexpensive, and more standardized; therefore, it may be the natural starting point for ascertaining mutations in families with severe hemophilia A.
Diagnosis ; DNA ; Factor VIII* ; Hemophilia A ; Hemorrhage ; Humans ; Incidence ; Male ; Polymerase Chain Reaction*

BACKGROUND: Transforming growth factor-beta1 (TGF-beta(1)) is a multifunctional cytokine that is involved in the development of the features of chronic rejection in organ transplantation, namely fibrosis. The severity and frequency of the rejection are dependent on the amount of the TGF-beta(1) production. The level of TGF-beta(1) synthesis varies between individuals and is dependent on varieties of single nucleotide polymorphism (SNP) in the genes encoding TGF-beta(1). The goal of this study was to determine TGF-beta(1) genotypic variations in Koreans primarily related to kidney transplantation since most of the studies dealt with lung transplantation in Caucasoid populations. METHODS: From January to June 1999, samples were collected from 98 patients and donors for kidney trans plantation. The sample were genotyped by polymerase chain reaction using sequence specific primer (PCR-SSP) for six known SNPs in the TGF-beta(1) gene: -988, -800, -509 and codon 10, 25 and 263. All procedures of PCR were performed under the same conditions. RESULTS: Only 3 genotypes of -988/-800/-509, codon 10 and 25 in exon 1 and codon 263 in exon 5, were identified: LL type, CGC/CGC-leucine/leucine (L/L)-arginine/arginine (A/A)-threonine/threonine (T/T); LP type, CGC/CGT-leucine/proline (L/P)-AA-TT; PP type, CGT/CGT-PP-AA-TT. Homozygosity for arginine at codon 25 and threonine at codon 263 were found in 100% of the patients. CONCLUSIONS: Even though it was stated that polymorphisms in the TGF-beta(1) gene, especially at codon 25, were highly related in the production of TGF-beta(1) and also the frequency of graft rejection, as stated in English literature, and 100% of arginine homozygosity at codon 25 showed in this study. Therefore, there might be an another factor influencing the graft rejection and fibrosis other than TGF-beta(1) genotype unless the TGF-beta(1) level of serum has been found to be higher or if there have been more frequent rejections in Koreans. Confirmation of this prediction needs proper comparisons between genotyping, TGF-beta(1) level and chronic rejection in more patients in the near future.
Arginine ; Codon ; Exons ; Fibrosis ; Genotype ; Graft Rejection ; Humans ; Kidney Transplantation* ; Kidney* ; Lung Transplantation ; Organ Transplantation ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Threonine ; Tissue Donors ; Transplants

BACKGROUND: There were no reports of any other species of Plasmodium except for P. vivax in Korea and the diagnosis of malaria has been made using microscopic examination of Giemsa-stained thick and thin blood films. This method is labor-intensive, time consuming and requires microscopic expertise. Therefore, the alternative techniques, rapid immunocapture assays, have been sought for use in the Korean Military. We performed an evaluation of the OptiMAL test to assess its sensitivity and treatment monitoring of Plasmodium vivax malaria. METHODS: We collected 77 whole blood in EDTA from 55 patients who were presented and diagnosed for P. vivax by microscopy of blood smears (thick and thin) at the Capital Armed Forces General Hospital (CAFGH) between May and October 2000. The OptiMAL test was performed according to the manufacturer's instructions on all samples. RESULTS: Compared with the blood film, the OptiMAL test identified 51 cases (83.6%) among 61 microscopy positive cases. Six cases were misinterpreted as Plasmodium falciparum. The diagnostic sensitivity of the OptiMAL test was 93.4% on 61 samples and 96.7% on 30 samples at a parasitemia level of more than 2,000/L parasites regardless of Plasmodium species. The discrepancy rate between the microscopy and the OptiMAL test is 38.1% in the samples from 21 patients at 2 or 3 days after treatment. CONCLUSIONS: Our data demonstrated that the OptiMAL test has limits and is not yet satisfactory to replace the conventional microscopy. However, regardless of the Plasmodium species the sensitivity of the OptiMAL test is relatively high and is comparable to that of microscopy in detecting malaria at the parasitemia level of more than 2,000/L parasites. It is an easy, rapid and useful tool in a field like the military.
Arm ; Diagnosis* ; Edetic Acid ; Hospitals, General ; Humans ; Korea ; Malaria ; Malaria, Vivax* ; Microscopy ; Military Personnel ; Parasitemia ; Parasites ; Plasmodium falciparum ; Plasmodium vivax* ; Plasmodium*

High-protein anti-D reagents prepared from pools of human serum have been used for routine RhD typing but, low-protein, saline reactive anti-D reagents formulated predominantly with monoclonal antibodies are in current use. Because some of the high-protein reagents contain macromolecular additives that may cause red cells coated with immunoglobulin to aggregate spontaneously, antisera with these additives may produce a false-positive reaction. A four-day old male was admitted due to severe jaundice. Initially, the RhD type of the newborn using a high-protein reagent was D-positive and then, using two low-protein reagents, it was D-negative. The blood type of the mother was B, CDe, and that of the newborn was B, CcdEe. The direct antiglobulin test on the newborn's RBC was positive. Anti-E and anti-c were identified in the mother's serum and anti-E only was identified in the newborn's serum. The newborn was treated with phototherapy for 10 days and discharged as recovered. We present a case of hemolytic disease of the D negative newborn, which showed a discrepancy between high protein anti-D and low protein anti-D. With a review of literature, the newborn was possibly misinterpreted as D positive.
Antibodies, Monoclonal ; Coombs Test ; Humans ; Immune Sera ; Immunoglobulins ; Indicators and Reagents ; Infant, Newborn* ; Jaundice ; Male ; Mothers ; Phototherapy

BACKGROUND: The serum des-gamma-carboxy prothrombin (PIVKA-II) is a tumor marker complementary to alpha-fetoprotein (AFP) for diagnosing primary hepatocellular carcinoma (HCC). A combination assay of the tumor markers was found to be useful for early diagnosis of HCC. So we investigated the clinical relevance of the measurement of serum PIVKA-II and AFP levels in patients with HCC. METHODS: The serum PIVKA-II levels were measured in 64 cases of HCC, 16 cases of cirrhosis, 32 cases of chronic hepatitis, and 23 healthy controls with a revised PIVKA-II ELISA Kit (Eisai, Tokyo, Japan), with the simultaneous determination of the serum AFP value using the AFP immunoassay kit (Elecsys, Roche, Germany). RESULTS: The positive rates of PIVKA-II and the AFP value in HCC were 53.1% and 68.8%, respectively, and were significantly higher than 17.6% and 29.4% in liver cirrhosis, and 3.1% and 0% in chronic hepatitis. No signficant correlation between the two tumor markers was found. The correlation between PIVKA-II levels and the size of tumor in HCC was found. No relation of the clinical characteristics to positive rates of PIVKA-II and AFP was found. The sensitivity, specificity and accuracy of PIVKA-II were 53.1%, 94.4% and 73.8%, and those of AFP were 68.8%, 93.1% and 80.9%, respectively. The sensitivity and accuracy in the combination assay for detection of HCC were higher than those in each assay, especially in HCC with the diameter of the tumor mass at less than 3 cm. CONCLUSIONS: It was demonstrated that the combination assay of PIVKA-II and AFP could increase the diagnostic value for HCC and could be useful in early diagnosis of HCC.
alpha-Fetoproteins* ; Carcinoma, Hepatocellular* ; Early Diagnosis ; Enzyme-Linked Immunosorbent Assay ; Fibrosis ; Hepatitis, Chronic ; Humans ; Immunoassay ; Liver Cirrhosis ; Prothrombin ; Sensitivity and Specificity ; Biomarkers, Tumor

BACKGROUND: Some types of human papillomavirus (HPV) play a major role in the pathogenesis of cervical cancer. Several dozens of studies on the association of HPV with cervical neoplasm have been done since the first detection of HPV 16 and 18 directly from cervical cancer patients in 1983. Approximately 90 types of HPV have been identified so far and the number of oncogenic HPV types is still growing. In this study, we examined the occurrence of oncogenic HPV infections in patients with cervical lesions. Method : Two hundred twenty cervical swab specimens were collected during a 3 year period (1996-1999). Processed specimens were tested for HPV type 16 and 18 by polymerase chain reaction. RESULTS: HPV type 16 was detected in the cervical swab specimens as follows: 19 (51.4%) of 37 cervical cancer patients, 19 (30.2%) of 63 high-grade squamous intraepithelial lesions, 5 (9.6%) of 52 low-grade squamous intraepithelial lesion, none in 6 atypical squamous cells of undetermined significance and 3 (4.8%) of 62 normal cervices. Conclusion : The positive rate for HPV type 16 increased according to the degree of cervical malignancy.
Human papillomavirus 16 ; Humans* ; Polymerase Chain Reaction* ; Uterine Cervical Neoplasms

BACKGROUND: Recently malaria infection became one of the most important parasitic diseases in Korea. After the re-emergence of malaria in a young soldier in 1993 near the De-Militarized Zone (DMZ), three to four thousand people have been infected per year in the last few years and the cases of infection have been increasing threefold each year. Microscopic examination of a thick blood smear is a conventional and confirmatory method for diagnosis. However, it requires labor-intensive procedures and its interpretation is quite subjective. Faster and more reliable methods are needed for the diagnosis of malaria. METHODS: We evaluated 155 patients who were diagnosed as malaria. We performed point-of-care rapid diagnostic methods recently introduced: two antibody detection tests manufactured by Korean companies and one antigen (Plasmodium lactate dehydrogenase, pLDH) detection test. The results were compared with those of microscopic examinations of thick blood smears. RESULTS: Sensitivities of two antibody detection assays and one antigen detection assay in acute attacks of malaria were 64.7%, 72.5%, and 96.1%; and, specificities were 88.5%, 89.4%, and 95.1%, respectively. Overall accuracy for all samples were 80.6%, 83.9%, and 95.5%, respectively. CONCLUSIONS: Antibody detection tests for malaria have limitations in sensitivity and accuracy to replace microscopic examination of blood film. Antigen tests detecting pLDH could replace conventional microscopic examinations of blood film, especially in emergency situations in cases that require prompt medication.
Diagnosis* ; Emergencies ; Humans ; Korea* ; L-Lactate Dehydrogenase ; Malaria* ; Military Personnel ; Parasitic Diseases ; Plasmodium

BACKGROUND: The purpose of this study was to evaluate the newly improved third generation enzyme immunoassay kit, LG HCD 3.0TMB (LG Chemical Ltd., Korea) for the detection of antibodies for the hepatitis C virus. METHODS: The 1,068 clinical samples and 3 seroconversion panels were subjected to compare LG HCD 3.0TMB with Ortho HCV 3.0. The discordant clinical samples were confirmed by RT-PCR (Roche Amplicor HCV test) and RIBA (LG HCD confirm, Ortho RIBA HCV 3.0). Reproducibility was estimated using six samples with different anti-HCV levels for each assay. RESULTS: In clinical samples, concordance between LG HCD 3.0TMB and Ortho HCV 3.0 was 98.8% (1,055 of 1,068 tests) in the screening test. After a repeat test of 13 discordant samples, overall concordance was 99.3% (1,061 of 1,068 tests). In the seroconversion panel testing, the LG HCD 3.0TMB detected HCV antibodies earlier than the Ortho HCV 3.0 in one of the three panels. Results of both EIA assays were constant on the reproducibility test. CONCLUSIONS: Based on the good agreement with Ortho HCV 3.0 and superior seroconversion sensitivity, the LG HCD 3.0TMB assay appears to be suitable for detecting HCV antibodies in clinical laboratories.
Antibodies ; Hepacivirus ; Hepatitis C Antibodies* ; Immunoenzyme Techniques ; Mass Screening

BACKGROUND: It is well established that automated blood culture systems require no more than five days of incubation for the detection of the majority of pathogens. It is not clear, however, whether continuous monitoring of blood culture systems also routinely require five days of incubation. This study was conducted to determine the clinical impact of incubating blood cultures for 4 days rather than for 5 days using the BACTEC 9240 blood culture system. METHODS: During the 6-month period from July to November 1998, 22,167 blood cultures were performed. Positive culture sets and the isolates were sorted by times to detection of isolates. Chart reviews were done for isolates detected on day 3 or later to determine whether therapy was changed due to this blood culture result. RESULTS: Of 2,426 isolates (2,319 positive cultures), 2,344 (96.6%) were recovered within 3 days and 52 (2.1%) were recovered on day 4, and 30 (1.2%) on day 5. Chart reviews showed that 21 of the 52 isolates detected on day 4 were considered clinically significant and 10 of those affected the treatment of the patients. On day 5, 5 of the 30 isolates were considered clinically significant and 3 of those affected the treatment. CONCLUSIONS: Four-days rather than a 5-day incubation period reduced culture sensitivity by 1.2% but most of those were clinically irrelevant. These data suggest that the 4-day protocol for the BACTEC 9240 system is adequate for detection of positive blood cultures.
Humans