OBJECTIVE: The conventional methods to determine fetal genetic status, such as amniocentesis or chorionic villi sampling(CVS) have small procedure-related risk of abortion. Recently, several researchers reported that fetal genetic status, such as sex, can be confirmed by fetal nucleated erythrocytes in maternal blood and this method might reduce such risk. Therefore, in this study, we attempted to determine the basic fetal genetic status, sex, with fetal nucleated erythrocytes. METHODS: In twelve pregnant women who undertook amniocentesis or CVS, 20 ml of venous blood was drawn immediately before the procedure and the nucleated erythrocytes were recovered by magnetic activated cell sorting(MACS). After MACS, DNA was extracted from 200 microliter of sample and single nucleated erythrocyte was obtained by additional procedure, immunostaining, and microdissection. After recovery of nucleated erythrocytes by microdissection, nested polymerase chain reaction(PCR) and fluorescent PCR of amelogenin gene were performed to identify the fetal gender. RESULTS: The DNA of enriched erythrocytes after MACS could identify the fetal gender in the 58.3% of the samples by nested PCR. After the recovery of single nucleated erythrocyte by MACS, immunostaining and microdissection, the minute DNA in a single cell could be amplified by primer extension preamplification(PEP), nested PCR, and fluorescent PCR. Fetal genders were correctly identified in 8 out of 12 (66.7 %). CONCLUSION: Through this study, we could conclude that fetal nucleated erythrocytes in maternal blood might be sufficient sample to determine fetal sex. And single cell isolation by microdissection could get the better results than nested PCR after MACS only. However, in spite of the pregnancy of male fetus, female specific bands were obtained after nested PCR of amelogenin in several cells, which might suggest that part of nucleated erythrocytes in maternal blood might be maternal origin. Therefore, to determine fetal genetic condition by nucleated erythrocytes in maternal blood, further improvements of methods to identify the nucleated erythrocytes of fetal origin are needed.
Amelogenin ; Amniocentesis ; Cell Separation ; Chorionic Villi ; Diagnosis* ; DNA ; Erythroblasts* ; Erythrocytes ; Female ; Fetus ; Humans ; Male ; Microdissection ; Polymerase Chain Reaction ; Pregnancy ; Pregnant Women

Prader-Willi syndrome is characterized by infantile hypotonia, mental retardation, hyperhagia, hypogonadism and obesity. Approximately 60% of all PLW syndrome show an interstitial deletion of chromosome 15, 37% have apparently normal chromosome, and 3.6% have a variety of other abnormalities involving chromosome 15. Diabetes mellitus has been considered a component of PLW syndrome and the incidence is about 7%. We experienced a 17-year-old female who revealed mental retardation, hypogonadism, obesity, and non-insulin dependent type DM, compatible with Prader-Willi syndrome.
Adolescent ; Chromosomes, Human, Pair 15 ; Diabetes Mellitus* ; Female ; Humans ; Hypogonadism ; Incidence ; Intellectual Disability ; Muscle Hypotonia ; Obesity ; Prader-Willi Syndrome*

No abstract available.
Nephrotic Syndrome*

No abstract available.
Carcinoma, Basal Cell* ; Nevus*

Hamartoma of the breast is relatively rare benign tumor, which is a well-circumscribed mass mainly composed of fibrous stroma, a(tipose tissue, ducts and acini. Muscular hamartoma of the breast is mainly composed of smooth muscle, and is extremely rare because proper smooth muscle is normaly absent in the breast except in the nipple. We describe a rare case of muscular hamartoma of the breast in a 38-year-old woman. This tumor was located in the upper outer quadrant and a 3 x 2.5 x 2 cm sized, well-demarcated but not encapsulated mass, The mass consisted mainly of irregularly arranged smooth muscle bundles in the fibrous stroma with lobular units and admixed fat cells. The origin of smooth muscle in hamartoma is not well known.
Female ; Humans ; Hamartoma

This is a report of clinical study on the 63 patients of symptomatic urinary tract infection who were hospitalized at the Department of Pediatrics in Kangnam General Hospital during the period between the May of 1989 and the September of 1992. The observation results were as follows: 1) The frequency of urinary tract infection (UTI) was the highest in children under the age of one year (66.7%). 35 patients were male, while the other 28 were female. The ratio of male and female patients was 1.25:1. 2) Fever was observed in most of the cases. Systemic nonspecific manifestation was predominant in the infancy and early childhood, whereas local symptom of UTI was predominant in the late childhood. Among the 35 male patients, 32 cases were phimoses. As for the other 3 cases, Phimoses were not identified. 3) E. coli had the most frequency (65.3%), followed by Klebsiella, Enterobacter, Pseudomonas in descending order. 4) In the vitro antimicrobial susceptibility test, Gram negative organisms such as E. coli Klebsiella, Enterobacter were sensitive to cefotaxime, amikacin, and ampicillin/sulbactam. Meanwhile, Gram positive organisms such as Staphylococcus, Enterococcus were sensitive to vancomycin and cephradine. 5) The renal ultrasonography test was performed for 59 patients, 13 cases of whom showed abnormal findings. 6 cases out of the 13 abnormal patients had hydronephrosis. 6) DMSA renal scan was performed for 40 patients within 2 months of an acute pyelonephritic attack. Signs of pyelonephritic change were found in 18 patients. DMSA scan was repeated 4~12 months later in 4 of these patients. This showed renal cortical scarring in all patients. 7) Voiding cystourethrographic findings in 38 patients showed vesicoureteral reflux in 13 patients. 8) We performed urine culture again after 48 hours from the beginning of therapy and 85.5% of the cases became sterile. 9) The recurrent percentage of UTI was 23.8% with the ratio of 1:1.5 between male and female. Most of the patients were clildren under the age of one year. 10) Operations were made on two cases showing the increase of reflux during the follow-up of unilateral Grade ll and Grade 3 reflux, respectively. Operations were also performed on other two cases with bilateral Grade IV reflux. All the cases were good after the operations. In the meantime, as for another two cases having the right reflux of Grade lland the bilateral reflux of Grade lll, the refluxes were able to be reduced by prophylaxis only, in the course of following up.
Amikacin ; Cefotaxime ; Cephradine ; Child* ; Cicatrix ; Enterobacter ; Enterococcus ; Female ; Fever ; Follow-Up Studies ; Hospitals, General ; Humans ; Hydronephrosis ; Infant* ; Klebsiella ; Male ; Pediatrics ; Phimosis ; Pseudomonas ; Staphylococcus ; Succimer ; Ultrasonography ; Urinary Tract Infections* ; Urinary Tract* ; Vancomycin ; Vesico-Ureteral Reflux

OBJECTIVE: To investigate the bone mineral density(BMD) in Korean postmenopausal women. METHODS: We performed the retrospective study for 1,508 postmenopausal women who had menopause after 40 years of age and didn't take any hormonal agent before measuring bone mineral density. Spinal and femur neck BMD were measured using dual energy X-ray absorptiometry(DXA, Lunar Co.). RESULTS: The mean age of the study subjects was 53.7+/-5.7 years and the average BMD of the lumbar spine(L2-L4; L24) and femur neck(FN) were 0.996+/-0.173 g/cm(2) and 0.821+/-0.133 g/cm(2), respectively. Of all subjects, 44.1%(665/1,508) had osteopenia and 14.7%(222/1,508) were already osteoporotic. The prevalence of osteoporosis increased with age; 5.2% in 41-50 years of age, 15.6% in fifties, 32.5% in sixties, and 45.5% in over 70 years of age. There was no significant difference in the age-adjusted BMD between naturally menopausal women(n=828) and surgically menopausal women(n=78). The mean age at menopause of surgically menopausal women was significantly younger than that of naturally menopausal women(47.6+/-3.6 vs 49.2+/-3.5). Duration of menopause, body weight, and height were revealed to be the significant risk factors for osteoporosis. The annual bone loss rates in lumbar spine and femur neck were 1.2% and 1.1% respectively in naturally menopausal women, and 1.5% and 1.2% in surgically menopausal women. CONCLUSIONS: This study established the BMD curve and regression equation in Korean postmenopausal women according to the causes of menopause. There was no significant difference in the mean BMD and the prevalence of osteoporosis between naturally and surgically menopausal women. Duration of menopause, body weight, and height were found to be the risk factors which influence the development of the osteoporosis. So the postmenopausal women who are at increased risks of developing osteoporosis need more active interventions for preventing the osteoporotic fracture.
Body Weight ; Bone Density* ; Bone Diseases, Metabolic ; Female ; Femur ; Femur Neck ; Humans ; Menopause* ; Osteoporosis ; Osteoporotic Fractures ; Prevalence ; Retrospective Studies ; Risk Factors ; Spine

PURPOSE: The purpose of this study was to evaluate the relationship between radiation-induced activation of DNA repair genes and radiation induced apoptosis in A431 cell line. MATERALS AND METHODS: Five and 25 Gys of gamma radiation were given to A431 cells by a Cs-137 cell irradiator. Apoptosis was evaluated by flow cytometry using annexin V-fluorescein isothiocyanate and propidium iodide staining. The expression of DNA repair genes was evaluated by both Northern and Western blot analyses. RESULTS: The number of apoptotic cells increased with the increased radiation dose. It increased most significantly at 12 hours after irradiation. Expression of p53, p21, and hRAD50 reached the highest level at 12 hours after 5 Gy irradiation. In response to 25 Gy irradiation, hRAD50 and p21 were expressed maximally at 12 hours, but p53 and GADD45 genes showed the highest expression level after 12 hours. CONCLUSION: Induction of apoptosis and DNA repair by ionizing radiation were closely correlated. The peak time of inducing apoptosis and DNA repair was 12 hours in this study model. hRAD50, a recently discovered DNA repair gene, was also associated with radiation-induced apoptosis.
Apoptosis* ; Blotting, Western ; Cell Line* ; DNA Repair* ; DNA* ; Flow Cytometry ; Gamma Rays ; Humans* ; Propidium ; Radiation, Ionizing

The persistent left superior vena cava (LSVC) is not rare cardiovascular developmental anomaly occurring both in association with congenital heart disease and as an isolated anomaly of no hemodynamic importance. We have studied 73 cases of the LSCV out of 1,060 cases of congenital heart disease catheterized at Yonsei Cardiovascular Center. We conducted the study with a view point of position of the heart and abdominal organs and segmental analysis of the underlying congenital heart disease. We also analysed the associated extracardiac vascular anomalies. The following results were obtained: 1) The incidence of this anomaly among congenital heart disease was 6.9% and 41 cases(56.2%) had cyanosis. 2) We observed 20 cases(27.3%) with the malposition of the heart and 17 cases(23.3%) with malposition of the abdominal organs. The ventricular loops revealed D-loop in 60 cases, L-loop in 7 cases and in the remaining 6 cases, it was uncertain. 3) With a view point of type of LSVC by Lucas & Krabill, type A was in 50 cases(68.5%), type D in 14 cases(19.2%), type B in 5 cases(6.8%) and type C in 4 cases(5.5%). 4) Associated cardiovascular anomalies were as follows: ventricular septal defect; 42 cases(57.5%), atrial septal defect; 33 cases(45.2%), patent ductus arteriosus; 27 cases(36.9%), and tetralogy of Fallot; 18 cases(24.7%). In conclusion, LSVC usually has no hemodynamic importance, but this cardiac anomaly is frequently combined with complex intracardiac anomalies. Therefore, it is important to making accurate diagnosis and successful management for preventing the risk of it.
Catheters ; Classification* ; Cyanosis ; Diagnosis ; Ductus Arteriosus, Patent ; Heart ; Heart Defects, Congenital ; Heart Septal Defects, Atrial ; Heart Septal Defects, Ventricular ; Hemodynamics ; Incidence ; Tetralogy of Fallot ; Vena Cava, Superior*

No abstract available.
Animals ; Cattle* ; Yersinia enterocolitica* ; Yersinia*