No abstract available.
Preimplantation Diagnosis*

OBJECTIVE: To determine the life expectancy and causes of death of the children with Down syndrome(DS), longitudinal follow-up study was done for 29 cases of DS who were born at CHA hospital located in Seoul During the period from July 1991 to Dec. 1994. METHODS: 29 cases were divided into groups according to the presence of congenital heart disease (CHD) and leukemia. CHD group was subdivided into DS with complete AVSD(atrioventricular septal defect) and DS without complete AVSD. Survival curves were calculated by kaplan-Meier product limit method. Each group were compared by log rank test. The factors affecting mortality rate were analyzed by Cox's proportional hazard regressional model. RESULTS: There were no statistical differences in mortality rate between groups with CHD(35.3%) and without CHD(33.3%)(p=0.7373). Statistical difference was not observed between CHD subgroups with AVSD and with CHD other than AVSD. There were significant statistical difference in mortality rate between groups with leukemia and without leukemia(p=0.0001). CONCLUSION: The factor affecting mortality rate of DS was the presence of leukemia regardless of presence of CHD in our study cases with DS.
Cause of Death ; Child* ; Down Syndrome* ; Follow-Up Studies ; Heart Defects, Congenital ; Humans ; Kaplan-Meier Estimate ; Leukemia ; Life Expectancy ; Mortality ; Seoul ; Survival Analysis*

The aim of this study was to develop a rapid and safe non-radioactive DIG DNA labeling and detection for Southern blot analysis for fragile X syndrome and Duchenne muscular dystrophy (DMD). Southern blot analysis is accurate test showing expression of the (CGG)n repeat and abnormal methylation pattern of CpG island in hagile X syndrome, and good confirmative secondary test in case of deletion in DMD. But in terms of test rapidity, these conventional radioactive Southern analysis may not be feasible for rapid screening of prenatal samples and at-risk populations to determine their status and to provide genetic counseling to their families. As an alternative radioactive Southern blotting, DIG DNA labeling and detection system does not require handling of radioactive material nor require learning any new technology. The complete procedure of labeling the DNA and hybridization to detection of the first visible signal can be compbsbed witbin 7 days. In addition, hybridization solutions containing labeled DNA can be reused several times after renewed denaturation.
Blotting, Southern ; CpG Islands ; Diagnosis* ; DNA ; Fragile X Syndrome* ; Genetic Counseling ; Humans ; Learning ; Mass Screening ; Methylation ; Muscular Dystrophy, Duchenne

OBJECTIVE: Prenatal diagnosis of congenital heart disease(CHD) has been made by fetal echocardiography and its clinical impact on the outcome of affected cases has been reported. METHODS: A multicenter retrospective study was performed by our study group for the fetal diagnosis of CHD, confirmed postnatally or at second study and/or at autopsy and/or follow up. 274 cases out of 8 centers operating fetal echocardiography in high risk pregnancies were analyzed and their outcome was analyzed according to the presence of associated factors and with respect to the types of the CHD. RESULTS: There were 179 cases of significant CHD, 72 cases of miscellaneous CHD, 23 cases of fetal arrhythmias. Significant CHD consisted of 42 cases of ventricular septal defect(VSD), 17 cases of heterotaxia induding asplenia and polysplenia, 15 cases of complete atrioventricular septal defect(AVSD), 15 cases of coarctation of aorta, 14 cases of hypoplastic left heart syndrome(HLHS), 13 cases of tetralogy of Fallot(TOF), 11 cases of double outlet right ventricle(DORV). These 6 frequent CHDs consisted of 70.9% of significant CHD. The gestational age of the fetuses at diagnosis was 20-41 weeks(83 cases from 5 hospitals: Kangnam and Bundang CHA hospital, Ewha women's university hospital and Samsung medical center). 28.9%(24 out of 83 cases with known gestational age at diagnosis) had been diagnosed before 25 weeks of pregnancy. The most common indication of fetal echocardiography was abnormal obstetric ultrasound findings. Associated extracardiac and chromosomal anomaly was 27.9% and 11.7% respectively. The rate of termination of pregnancy(TOP)/significant CHD was 34.1%. Perinatal mortality was 39.7% induding 61 TOP, 5 fetal death in utero(FDIU), 4 neonatal death and 1 neonatal operative death. The most common factors of TOP were extracardiac and chromosomal anomaly. Five cases of d-transposition of great arteries with intact ventricular septum had been diagnosed prenatally at 3 hospitals, all of them had planned delivery and all survived arterial switch operation in the neonatal period. CONCLUSION: This study represents the impact of fetal echocardiograhpy on the outcome of CHD in Seoul and part of Kyung-Gi area in 1998. The data suggested that significant CHDs could be diagnosed accurately in most hospital But the prenatal detection rates of CHD were relatively low in several hospitil compared to the number of livebirth, probably due to inaccurate prenatal ultrasound screening.
Aortic Coarctation ; Arrhythmias, Cardiac ; Arteries ; Autopsy ; Cardiology* ; Diagnosis ; Echocardiography ; Fetal Death ; Fetus ; Follow-Up Studies ; Gestational Age ; Gyeonggi-do ; Heart ; Heart Defects, Congenital* ; Mass Screening ; Perinatal Mortality ; Pregnancy ; Prenatal Diagnosis* ; Retrospective Studies ; Seoul ; Ultrasonography ; Ventricular Septum

PURPOSE: We compared the treatment results and toxicity in nasopharyngeal carcinoma (NPC) patients treated with concurrent chemotherapy (CCRT) alone (the CRT arm) or neoadjuvant chemotherapy followed by CCRT (the NCT arm). MATERIALS AND METHODS: A multi-institutional retrospective study was conducted to review NPC patterns of care and treatment outcome. Data of 568 NPC patients treated by CCRT alone or by neoadjuvant chemotherapy followed by CCRT were collected from 15 institutions. Patients in both treatment arms were matched using the propensity score matching method, and the clinical outcomes were analyzed. RESULTS: After matching, 300 patients (150 patients in each group) were selected for analysis. Higher 5-year locoregional failure-free survival was observed in the CRT arm (85% vs. 72%, p=0.014). No significant differences in distant failure-free survival (DFFS), disease-free survival (DFS), and overall survival were observed between groups. In subgroup analysis, the NCT arm showed superior DFFS and DFS in stage IV patients younger than 60 years. No significant difference in compliance and toxicity was observed between groups, except the radiation therapy duration was slightly shorter in the CRT arm (50.0 days vs. 53.9 days, p=0.018). CONCLUSION: This study did not show the superiority of NCT followed by CCRT over CCRT alone. Because NCT could increase the risk of locoregional recurrences, it can only be considered in selected young patients with advanced stage IV disease. The role of NCT remains to be defined and should not be viewed as the standard of care.
Arm ; Chemoradiotherapy ; Compliance ; Disease-Free Survival ; Drug Therapy* ; Humans ; Induction Chemotherapy ; Methods ; Nasopharyngeal Neoplasms ; Propensity Score* ; Radiotherapy ; Recurrence ; Republic of Korea ; Retrospective Studies* ; Standard of Care ; Treatment Outcome

PURPOSE: To evaluate the effectiveness and safety of fentanyl-TTS in the management of radiotherapy induced acute pain and cancer pain treated with radiotherapy. MATERIALS AND METHODS: Our study was open labelled prospective phase IV multi-center study. the study population included patients with more 4 numeric rating scale(NRS) score pain although managed with other analgesics or more than 6 NRS score pain without analgesics. Patients divided into two groups; patients with radiotherapy induced pain (Group A) and patients with cancer pain treated with radiotherapy (Group B). All patients received 25 ug/hr of fentanyl transdermal patch. Primary end point was pain relief; second end points were change in patient quality of life, a degree of satisfaction for patients and clinician, side effects. RESULTS: Between March 2005 and June 2005, 312 patients from 26 participating institutes were registered, but 249 patients completed this study. Total number of patients in each group was 185 in Group A, 64 in Group B. Mean age was 60 years and male to female ratio was 76:24. Severe pain NRS score at 2 weeks after the application of fentanyl was decreased from 7.03 to 4.01, p=0.003. There was a significant improvement in insomnia, social functioning, and quality of life. A degree of satisfaction for patients and clinician was very high. The most common reasons of patients' satisfactions was good pain control. Ninety six patients reported side effect. Nausea was the most common side effect. There was no serious side effect. CONCLUSION: Fentanyl-TTS was effective in both relieving pain with good tolerability and improving the quality of life for patients with radiotherapy induced acute pain and cancer pain treated with radiotherapy. The satisfaction of the patients and doctors was good. There was no major side effect.
Academies and Institutes ; Acute Pain ; Analgesics ; Female ; Fentanyl* ; Humans ; Male ; Nausea ; Prospective Studies ; Quality of Life ; Radiotherapy* ; Sleep Initiation and Maintenance Disorders ; Transdermal Patch*