BACKGROUND: The granulocyte-specific antigen NA which exist specifically on neutrophils and eosinophils have its antigenic determinant on Fcgamma receptor III. The alloantibodies and autoantibodies against this antigen are responsible for neonatal alloimmune neutropenia, chronic benign autoimmune neutropenia of infancy and transfusion-related acute lung injury. After discovering of biallelic polymorphism of NA antigen, there have been attempts to replace technically cumbersome serotyping methods by DNA-typing. This study was performed to investigate the genotype frequency of NA antigen In Koreans by DNA typing. METHODS: Using genomic DNA extracted from venous blood of 200 Koreans, genotype of NA antigen system was determined through polymerase chain reaction with sequence-specific primers (PCR-SSP), and the frequency was compared with previous studies. The NA genotypes of seven individuals were compared with their known phenotypes. RESULTS: The genotype frequencies of NA1+NA2-, NA1+NA2+, and NA1-NA2+ were 28.5%, 59.0%, and 12.5% respectively. The gene frequencies calculated from genotype frequencies were 0.58 and 0.42 for NA1 and NA2 respectively. The NA genotypes of seven individuals were correlated precisely with their phenotypes. CONCLUSION: The gene frequency of NA1 in Koreans was higher than that of Caucasian. The genotype frequencies of NA antigen in Koreans were similar to those of the Japanese and Chinese. This study will serve as a basic data for the study of the patients with diseases associated with granulocyte-specific antigens in Koreans.
Acute Lung Injury ; Asian Continental Ancestry Group ; Autoantibodies ; DNA ; DNA Fingerprinting ; Eosinophils ; Gene Frequency ; Genotype* ; Humans ; Isoantibodies ; Neutropenia ; Neutrophils ; Phenotype ; Polymerase Chain Reaction ; Serotyping

No abstract available.
Female ; Germ Cells* ; Neoplasms, Germ Cell and Embryonal* ; Ovary*

We compared the left ventricular ejection fraction by echocardiography with the ejection fraction determined by computerized radionuclide ventriculography in 59 patients who were admitted to the Soon Chun Hyang University Hospotal under the impression of cardiovascular disease from May 1984 to August 1985. The results were as follow : 1) In all patients the ejection fractions by both methods were significantly correlated with each other(r=0.77, P<0.001). 2) In 10 patients with ischemic heart disease the ejection fractions by both methods were not correlated significantly(r=0.42, P>0.10). 3) Except the 10 patients with ischemic heart disease, the ejection fractions by both methods were correlated significantly(r=0.87, P<0.001). 4) In conclusion, though the ejection fraction by the above 2 methods represent the left ventricular function well, the ejection fraction by echocardiography can not represent the left ventricular function precisely in patients in patients with ischemic heart disease because of abnormal left ventricular wall motion and left ventricular function more precisely than that by echocardiography.
Cardiovascular Diseases ; Echocardiography* ; Humans ; Myocardial Ischemia ; Radionuclide Ventriculography* ; Stroke Volume ; Ventricular Function, Left

No abstract available.
Female ; Humans ; Pregnancy ; Pregnancy Trimester, Second*

Neurocutaneous melanosis is a very rare congenital syndrome characterized by the presence of large or multiple congenital melanocytic nevi and benign or malignant melanotic tumors of the central nervous system. We report herein a case of neurocutaneous melanosis with leptomeningeal melanosis and a malignant melanoma of the right temporal lobe in a 46-year old man. The case is exceptional as regards the late onset of symptoms and death. Even without a malignant melanoma, the symptomatic neurocutaneous melanosis has a fatal course. The syndrome is rare but lethal, so the dermatologist should be aware of this syndrome when evaluating the patients with large or numerous congenital melanocytic nevi so as to watch for the usual signs of increased intracranial pressure and to take prompt palliative measures.
Central Nervous System ; Humans ; Intracranial Pressure ; Melanoma ; Melanosis* ; Nevus, Pigmented ; Temporal Lobe

No abstract available.
Carcinoma, Squamous Cell* ; Liver*

Serological prenatal screening tests are widely used to detect fetal chromosomal abnormalities such as Down and Edward syndromes. Amniocentesis is conducted as a confirmatory test in the screening-positive case. After discovering of presence of fetal cell-free DNA in maternal blood, non-invasive prenatal test (NIPT) coupled with next generation sequencing are performed in abroad. Results of genomics-based NIPT results supplied to Labgenomics laborotory from June, 2013 to August, 2014 were analyzed. Maternal blood samples were collected into specific Cell-Free DNA BCT tube and were transported. The samples were then delivered to Ariosa Diagnostics by FEDEX. Fetal cell-free DNA samples were analyzed using the Harmony test with sequencing of relevant chromosomes and by using the FORTE (fetal-fraction optimized risk of trisomy evaluation) algorism at Ariosa Diagnostics. In all, 149 cases from 28 medical clinics were analyzed. Six subjects were required recollection of samples because of a low fetal DNA fraction in the initially obtained samples. Of these 6 subjects, no sample could be collected from one. Of the remaining 148 cases, 144 had a low risk of trisomy, and 4 had a high risk for Down syndrome, thus providing a positivity percentage of 2.7%. Fetal DNA fraction in the maternal blood samples ranged from 4.2% to 23.7% with a mean value of 12.0%. We have experienced cases with a high risk for Down syndrome with genomics-based NIPT referred to abroad.
Amniocentesis ; Chromosome Aberrations ; DNA ; Down Syndrome ; Prenatal Diagnosis ; Trisomy

BACKGROUNDS: With the recent elucidation of genetic basis of Rh blood group, it is now available the molecular genotyping methods for Rh blood typing. These can be used when serological typing is difficult. This study was conducted to investigate the usefulness of Rh genotyping method for Koreans. METHODS: Genotyping for Rh C/c and E/e was performed in peripheral blood DNA samples from 34 blood donors by polymerase chain reaction using sequence-specific primers (PCR-SSP). The PCR determined genotypes were compared with serologically determined phenotypes. RESULTS: The Rh C/c and E/e genotyping results of 34 blood donors were full concordance with the results of their serologic phenotyping. CONCLUSIONS: Rh genotyping method on the basis of Rh genetic model can be applied to Koreans. This genotyping method would be useful tool in prenatal Rh typing of fetus at risk of hemolytic disease and when serotyping is not available for example massive transfusion. (Korean J Blood Transfusion 10(1): 21-26, 1999)
Blood Donors ; Blood Grouping and Crossmatching ; Blood Transfusion ; DNA ; Fetus ; Genotype ; Humans ; Models, Genetic ; Phenotype ; Polymerase Chain Reaction* ; Serotyping

A 29 year old woman with unresectable leiomyosarcoma of the inferior vena cave extending into the right atrium of the heart was presented. The upper and middle inferior vena cava involved and there were both intrinsic and extrinsic tumor growth components. The diagnosis was made by a combination of radiological studies including ultrasound, CT, inferior vena cavography and arteriography and the diagnosis was confirmed by ultrasound guided rumor biopsy. The clinical and radiological presenting features were reviewed.
Angiography ; Biopsy ; Diagnosis ; Female ; Heart ; Heart Atria ; Humans ; Leiomyosarcoma* ; Ultrasonography ; Vena Cava, Inferior*

A 29 year old woman with unresectable leiomyosarcoma of the inferior vena cave extending into the right atrium of the heart was presented. The upper and middle inferior vena cava involved and there were both intrinsic and extrinsic tumor growth components. The diagnosis was made by a combination of radiological studies including ultrasound, CT, inferior vena cavography and arteriography and the diagnosis was confirmed by ultrasound guided rumor biopsy. The clinical and radiological presenting features were reviewed.
Angiography ; Biopsy ; Diagnosis ; Female ; Heart ; Heart Atria ; Humans ; Leiomyosarcoma* ; Ultrasonography ; Vena Cava, Inferior*