OBJECTIVES: Hemophilia B has been known to result from more than 500 kinds of mutations. And it is difficult to find out a mutation specific for each family. Therefore, linkage analysis of DNA polymorphism within or near the factor IX gene has been frequently used in the clinical practice for molecular genetic diagnosis of hemophilia B. But the ethnic variation makes more difficult to apply useful markers in Caucasian population. To investigate the usefulness of the MseI and HhaI polymorphism in Korean population, we analysed the MseI and HhaI polymorphism. METHODS: Forty-five normal Korean and thirteen parents of the hemophilia B patients, using PCR and restriction enzyme analysis. RESULTS: The heterozygosity rate of MseI polymorphism was 49.7% and that of HhaI polymorphism was 25.5%. CONCLUSION: These data indicated that PCR-based analysis of MseI and HhaI polymorphism of factor IX was useful in molecular genetic diagnosis of hemophilia B in Korean population.
Diagnosis* ; DNA* ; Factor IX* ; Hemophilia A* ; Hemophilia B* ; Humans ; Molecular Biology* ; Parents ; Polymerase Chain Reaction ; Prenatal Diagnosis ; Restriction Mapping

OBJECTIVES: Chromosomal anomalies are common disease entity among genetic diseases. But there are scanty reports about the status of chromosomal abnormalities in Korean. In addition, the comprehensive multi-center study of chromosomal abnormalities in Korean has never been performed. METHODS: We have collected 1,793 cases (394 abortuses; 198 chorionic villi; 1,060 amniotic fluid cells; 141 fetal blood), which showed abnormal karyotype results from twenty three cytogenetic centers in Korea from the year of 1977 to 1999. RESULTS: In abortuses, numerical chromosomal abnormalities was 85%, and structural abnormalities was 13% and the most frequent anomaly was trisomy 16. In chorionic villi, numerical anomaly was 60.0% and structural anomaly was 31.3% and the most frequent karyotype was Down syndrome. In amniotic fluid cells, structural anomaly exceeded the number of numerical anomaly and the most frequent anomaly was Down syndrome. In fetal blood, numerical anomaly was 63.8% and the most frequent karyotype was trisomy 18 (23.4%) CONCLUSIONS: This may be the first comprehensive and multi-center study in Korea. The proportion of the abnormal karyotypes in each specimens was different from each other. Based on this study, the more comprehensive study should be performed to all the Korean population.
Abnormal Karyotype ; Amniotic Fluid ; Chorion* ; Chorionic Villi* ; Chromosome Aberrations ; Cytogenetics ; Down Syndrome ; Female ; Fetal Blood* ; Karyotype ; Korea ; Trisomy

PURPOSE: This study was designed to compare the wound healing effect of silk fibroin, alginate and fibroin/ alginate blend sponge with clinically used Nu gauze in a rat skin defect model. METHODS: Two full thickness excisions were made on the back of Sprague-Dawley rat. The excised wound was covered with either of the silk fibroin(SF), alginate (SA), or fibroin/alginate blend sponge(SF/SA). On the postoperative days of 3, 7, 10 and 14, the wound area was calculated by image analysis software. At the same time, a skin wound tissue was biopsied. RESULTS: Healing time 50% (HT(50)) of SF/SA sponge treated group was dramatically reduced as compared with that of control treatment. We also found that the HT50 of SF/SA sponge was significantly decreased as compared with either those of SF or SA treatment. Furthermore, SF/SA treatment significantly increased the size of epithelialization and collagen deposition as well as the number of PCNA positive cells on epidermal basement membrane as comapred with those of control treatment. CONCLUSION: Our results suggest that the wound healing effect of SF/SA blend sponge is the best among other treatments including SF and SA during the whole wound healing period.
Animals ; Basement Membrane ; Collagen ; Fibroins ; Porifera* ; Proliferating Cell Nuclear Antigen ; Rats ; Rats, Sprague-Dawley ; Silk* ; Skin ; Skin, Artificial* ; Wound Healing ; Wounds and Injuries*

OBJECTIVE: To determine the fetal aneuploidy in fetal blood cells from cordocentesis. METHODS: We analyzed their karyotype and performed fluorescence in situ hybridization(FISH) for chromosome 18, 21, X, and Y in 14 cases of fetal blood cells from cordocentesis at Department of Obstetrics & Gynecology, College of Medicine, Seoul National University and Hamchoon Women's Clinic. RESULTS: In all cases we obtained the consistent results in both methods and were able to rapidly detect aneuploidy in uncultured fetal blood cells using FISH before karyotyping with culture for 48 hr. The averages for accuracy of FISH were from 84.6 % to 93.9%. CONCLUSION: In this study we suggest that the rapid detection in uncultured fetal blood using FISH is possible and that this diagnostic method will be clinically useful when rapid result would be demanded.
Aneuploidy* ; Chromosomes, Human, Pair 18 ; Cordocentesis ; Fetal Blood* ; Fluorescence* ; Gynecology ; In Situ Hybridization* ; Karyotype ; Karyotyping ; Obstetrics ; Seoul

OBJECTIVE: We used nucleated erythrocytes in maternal blood for prenatal determination of the fetal gender as the preliminary experiment for the screening of fetal genetic status and the BclI DNA polymorphism in an attempt to clarify the origin of erythrocytes in maternal blood. METHODS: In seventeen pregnant women, venous blood was withdrawn and the nucleated erythrocytes were recovered by magnetic activated cell sorting (MACS) and immunostaining. After isolation of nucleated erythrocytes by micromanipulation, we performed nested PCR for amelogenin gene to identify the fetal gender and performed BclI DNA polymorphism to clarify the origin of erythrocytes. RESULTS: We could amplify the minute DNA in a single cell by primer extension preamplification and nested PCR of amelogenin gene in 94 (48.7%) cells and could identify the fetal gender by 58.8%. BclI DNA polymorphism revealed that the several cells, which did not reveal the specific band of Y chromosome in spite of the pregnancy of male fetuses, must be the cells from mother. CONCLUSION: Through this study, we could conclude that several nucleated erythrocytes in maternal blood circulation can originate from mother, therefore we must develop the new method to identify the nucleated erythrocyte of fetal origin. Considering that we must apply for the larger number of pregnant women to screen, the procedure was multi-step and complex. Therefore, we must design the new scheme to utilize the nucleated erythrocytes in maternal blood.
Amelogenin ; Blood Circulation ; DNA ; Erythroblasts ; Erythrocytes ; Female ; Fetus ; Humans ; Male ; Mass Screening ; Micromanipulation ; Mothers ; Polymerase Chain Reaction ; Pregnancy ; Pregnant Women ; Y Chromosome

OBJECTIVE: The cytogenetic analysis for earlier detection of fetal chromosome aneuploidies is performed from chorionic villus using either long-term culture or direct chromosome preparation. To analyze the cause of pregnancy loss, we also attempt the cytogenetic study in product of conception(POC) using chorionic villi or fetal tissue. But the failure of analysis often occurs in direct preparation of villus cells and product of conception(POC). We studied to evaluate the clinical usefulness of FISH in uncultured chorionic villus cells of culture-failed cases. METHODS: According to the patient's indication, we performed FISH for chromosome 18, 21, X and Y in chorionic villi as well as POC and compared FISH results with their chromosomal studies. RESULTS: We found one trisomy 18 and one trisomy 21 in Chorionic Villus Sampling and one trisomy 18 and one monosomy X(45, X) in POC. The averages for accuracy of FISH were 83-91% and all cases are represented consistent results with their chromosomal studies. Among them, we could analyze using FISH only in 5 cases of culture failure including one case of monosomy X in POC. CONCLUSION: We could detect aneuploidy with uncultured chorionic villus cells in case of culture failure, using FISH, it may be the potential method to assist the cytogenetic study.
Aneuploidy ; Chorion* ; Chorionic Villi Sampling ; Chorionic Villi* ; Chromosomes, Human, Pair 18 ; Cytogenetic Analysis ; Cytogenetics ; Down Syndrome ; Female ; Fetus ; Monosomy ; Pregnancy ; Trisomy ; Turner Syndrome

Vitamin C acts as a antioxidants and as free radical scavengers in biological systems. The objective of this study was to examine whether the administration of vitamin C could improve the skin flap survival. Sprague-Dawley rats (n = 40) were divided into 4 groups (n = 10); normal saline, vitamin C 200 mg/day, vitamin C 500 mg/day, vitamin C 1000 mg/day were injected subcutaneously to each group (n = 10). A classic caudally based random flap (2 X 7 cm) was elevated on the dorsum of rats and then sutured to its normal position. On the 3rd, 7th, 14th days postoperatively each animal was evaluated for percentage area of flap survival by paper template technique, thereafter rats were sacrificed and we obtained tissue from the distal ends of the flap. Following is our results. 1) The experimental group treated with vitamin C revealed an increased rate of random pattern skin flap survival compared with the control group (p < 0.005). 2) There was correlation of vitamin C dosage with flap survival rate (Spearman's correlation coefficient = 0.971). 3) The biopsy of the control group showed extensive atrophy and necrosis. However, New capillary proliferation and collagen deposition were noted in the vitamin C 200 mg and 500mg treated group. In the vitamin 1000 mg group, microscopic findings were very alike compared with normal rat skin texture. Finally, we concluded that the Vitamin C supplement increases survival rate of random pattern flap in rat skin flap model, and flap survival is correlated with vitamin C dosage.
Animals ; Antioxidants ; Ascorbic Acid* ; Atrophy ; Biopsy ; Capillaries ; Collagen ; Free Radical Scavengers ; Necrosis ; Rats* ; Rats, Sprague-Dawley ; Skin ; Survival Rate ; Vitamins*

Double fold operation is one of the most common cosmetic operations performed on young adults in Korean. These days, as many women are working outside home, growing number of women who want to have a natural-looking double eyelid choose the method with not only a short recovery time and less discomfort but also definite long lasting double fold. Double fold operation can be classified as incision technique and non incision technique. Although there are various non-incision techniques yielding good result, these techniques still have some problems, such as loosening of double fold with time, cyst formation, conjunctivitis and so on. Incision techniques also have problems such as long recovery time, irreversibility and visible scar. Our technique uses two or three 4-5mm of partial incision and removes the subcutaneous fat, pretarsal muscle, and small part of orbital septum through small incisions. And then we suture the wound skin to skin through levator aponeurosis and upper part of tarsal plate. These procedures prevent the possible problem of loosening of the folds of non-incision method by creating scar- adhesion between wider portion of the dermis and the tarsal plate and allows the application on puffy eyelid without any difficulty and is expectable of short recovery time. A retrospective review of data for 154 patients who underwent the partial-incision blepharoplasty using debulking method from November 2000 through april 2003 is presented. Most results were successful except 3 cases. Two patients complained of weak fold and one patient complained of short fold line. Satisfactory results in most patients prompt us to report this method, and we hope this debulking method complement the existing incision and non-incision method.
Blepharoplasty ; Cicatrix ; Complement System Proteins ; Conjunctivitis ; Dermis ; Eyelids ; Female ; Hope ; Humans ; Orbit ; Retrospective Studies ; Skin ; Subcutaneous Fat ; Sutures ; Wounds and Injuries ; Young Adult

BACKGROUND: Over the past 10 years, monopolar radiofrequency (MRF) technology has been widely used by dermatologists as a valuable modality to effectively tighten and rejuvenate photoaged skin. It also has the benefit of a short recovery time. OBJECTIVE: Using an objective parameter, this study aimed to assess the efficacy and safety of MRF, which is the basic modality of radiofrequency technologies, for treatment of periorbital wrinkles in Korean patients. METHODS: We enrolled 70 middle-aged female patients with periorbital wrinkles for this study. Each patient underwent triple sessions of MRF treatment in the periorbital region, separated by 2-week intervals. Clinical photographs were obtained, and the areas of wrinkles were measured using a Robo Skin Analyzer CS50 (Inforward Inc., Japan) at baseline and 4 weeks after the final treatment session. RESULTS: Significant reduction in the mean area of periorbital wrinkles was detected at 1-month follow-up (80.64±28.96 mm2) compared to baseline (95.08±31.93 mm2). The improvement ratio of the wrinkle area was 15.19%. Pain during procedure seemed to be tolerable without any local anesthesia for all patients. Transient mild erythema was the only side effect reported during the study. CONCLUSION: In conclusion, MRF could still be an attractive modality for Korean patients with periorbital wrinkles if the treatment is conducted repeatedly with sufficient energy and proper intervals.
Anesthesia, Local ; Erythema ; Female ; Follow-Up Studies ; Humans ; Skin

We have undertaken this study to identify the usefulness of two variable dinucleotide tandem repeats within the factor VIII gene for carrier detection and prenatal diagnosis of hemophilia A in the Korean population. We have analyzed these polymorphisms in 50 unrelated Korean mothers of patients with severe hemophilia A, using polymerase chain reaction. The expected heterozygosity rates of the intron 13 and intron 22 dinucleotide repeats were 56% and 40%, respectively. Analysis of the intron 13 and intron 22 dinucleotide repeats revealed heterozygous patterns in 29(58%) and 17(34%) of 50 mothers studied, respectively. The combined overall informativity of the intron 13 and intron 22 dinucleotide repeats was 68%. Using linkage analysis with the intron 13 dinucleotide repeats, we have attempted three cases of carrier detection and two cases of prenatal diagnosis in two families of patients with severe hemophilia A. Two pregnant women were diagnosed as carriers, and the other patients as non-carrier Prenatal diagnosis revealed an unaffected male in one fetus, and an unaffected female in another fetus. This data demonstrated that the analysis of the intron 13 and intron 22 dinucleotide repeats very useful in the carrier detection and prenatal diagnosis of hemophilia A in the Korean population.
Dinucleotide Repeats ; Factor VIII* ; Female ; Fetus ; Hemophilia A* ; Humans ; Introns ; Male ; Microsatellite Repeats ; Mothers ; Polymerase Chain Reaction ; Pregnant Women ; Prenatal Diagnosis* ; Tandem Repeat Sequences*