PURPOSE: This prospective pilot study is a part of the Korean NIH's effort to characterize con- genital anomalies and genetic disorders in Korea and to establish a National Genetic Database. METHODS: This population-based study was conducted at all hospitals that deliver in the province of Suwon; a total of 39 hospitals from May 1, 1997 to April 30, 1999 for a two-year period. All outcome of pregnancies, including liveborn, stillborn, and TOP over 20wks gestation were subjects of this study for the presence of major congenital anomalies. Delivery records of each hospital and pediatric records of one tertiary hospital were collected and analyzed. RESULTS: The total number of pregnancy was 30,319 yielding 30,653 deliveries, including 269 still-born and 27 TOPs. The overall incidence of congenital anomalies was 1.2Yo(366 cases among 30,653 deliveries) with 0.5Yo from primary hospital, 1.4Yo of general hospital deliveries and 4.5Yo of tertiary hospital deliveries. The incidences of selective major congenital anomalies per 1,000 deliveries were 0.82 for Down syndrome, 1.79 for cleft lip with or without cleft palate, and 0.39 for open neural tube defect. CONCLUSION: This pilot study represented the first community-based population data on congenital anomalies in Korea, differing from previous studies based on selective population of relative high-risk population from tertiary hospital delivery. Search for congenital anomalies among cohort by reviewing pediatric records yielded 38Yo of total anomalies, indicating the importance of combining both delivery and pediatrics records in generating accurate data for the incidence of congenital anomalies. (J Korean Pediatr Soc 2000;43:738-745)
Cleft Lip ; Cleft Palate ; Cohort Studies ; Congenital Abnormalities* ; Databases, Genetic ; Down Syndrome ; Epidemiologic Studies* ; Gyeonggi-do ; Hospitals, General ; Incidence ; Korea ; Neural Tube Defects ; Parturition* ; Pediatrics ; Pilot Projects* ; Pregnancy ; Prospective Studies* ; Tertiary Care Centers

No abstract available.
Adenocarcinoma* ; Female* ; Humans ; Urethra*

The intensive care unit(ICU) of our hospital is a 12 bed multidisciplinary ICU which is under the auspices of the Department of Anesthesiology. The ICU is essentially a respiratory ICU in which all hospital patients requiring ventilatory support are cared for. The patient population encompasses all causes of respiratory failure, medical and surgical. Another source of referral (surgical and medical) is a large group of critically ill patients with multiorgan failure, especially due to traums. Our experience of intensive care therapy began in the recovery room starting in 1959. Since that time the size and facilities of the ICU have been enlarged. We analyzed 4,514ICU patients admitted between Mar. 1980 and Feb. 1984, to obtain better guidance and management in the ICU. The results of patients was 4,514; 874 patients in 1980, 832 patients in 1981, 895 patients in 1982, 862 patients in 1983 and 1,051 patients in 1984. The ratio of male to female patients was nearly 2:1/ 2) Total Total admission time in the ICU was 17.473 days. The average patient stay was 3.9 days. The number of patients staying in the ICU more than 9 days increased from 54 cases(6%) in 1980 to 101 cases(10%) in 1984. 3) The forty year age group outrumbered the order age group and was 20.5%. The mortality rate of the pre-teen age group was the hightest(19.7%) and the overall mortality was 14.2%(640 cases) during these 5 years. 4) The number of patients admitted to the ICU from the Department of Neurosurgery was 1,218(27%) being the highest among all departments. Oct of 232 patients who died, the Department of Neurosurgery had the highest mortality rate, 19.1%. From the above results, it can be seen that the number of patients admitted to the ICU. the mortality rate and the patients staying more than 9 days in the ICU has increased annually it is claimed that more facilities allowing for monitoring and support, special qualified staffs and a co-ordinated organization will reduce the mortality rate, particularly in the pre-teen age group.
Anesthesiology ; Critical Illness ; Female ; Gangwon-do* ; Humans ; Intensive Care Units* ; Critical Care* ; Male ; Mortality ; Neurosurgery ; Recovery Room ; Referral and Consultation ; Respiratory Insufficiency

No abstract available.
Congenital Hypothyroidism*

BACKGROUND: There are many factors such as diffusion abnormality, V/Q mismatch, intrapulmonary shunt, alveolar hypoventilation and FIO2 in reducing arterial hypoxemia. Intrapulmonary shunting can be due to blood going from the right to the left side of the heart without respiring with alveolar gas(true shunt mechanism) or blood that respires but achieves a PaO2 less than the ideal (shunt effect mechanism). Understanding the portion of true shunt in patients with hypoxemia is very important indicator to analyze the effects of oxygen therapy. Several equations are used for calculation of physiologic shunt. The aim of this study was to calculate and compare shunts derived from four shunt equations; classic physiologic, estimated, modified clinical and simple equations. METHOD: After cardiovascular stability following open heart surgery, 40 patients were mechanically ventilated with an FIO2=1.0. Arterial and mixed blood gases were measured. We calculated and compared shunts by classic physiologic [S/T=(CcO2 CaO2)/(CcO2 CO2)], estimated [S/T=(CcO2 CaO2)/ (3.5 CcO2 CO2)], modified clinical [S/T= AaDO2 0.0031/(AaDO2 0.0031 CcO2 CaO2)], and simple equations [S/T=AaDO2/20]/ RESULTS: Shunts by classic physiologic, estimated, and modified clinical shunt equation were 26.9 8.5%, 25.1 7.1%, and 26.3 8.2%, respectively and did not differ one another significantly. Shunts by simple shunt equations was 18.8 6.2% and significantly lower than those by other 3 equations(P<0.05). CONCLUSIONS: It is reasonable to conclude that in post-open heart patients with stable cardiovascular function and mechanically ventilated with an FIO2=1.0, classic physiologic, estimated, and modified clinical shunt equations show a reliable reflection of the physiologic shunt. But simple equation (AaDO2/20) might be used as a simple estimate.
Anoxia ; Diffusion ; Gases ; Heart ; Humans ; Hypoventilation ; Oxygen ; Thoracic Surgery

BACKGROUND: Left ventricular hypertrophy(LVH) is a powerful indepedent risk factor of ventricular tachycardia and sudden death. Even though it is not clear the mechanism of sudden death in patients with LVH, inhomogenous ventricular repolarization is highly suggested. QT dispersion which reflecting regional inhomogeneity of repolarization is defined as interlead variation in QT intervals of 12 leads ECG. The purpose of this study was to assess whether QT dispersion is associated with LVH in hypertensive patients. METHODS: We assessed 23 untreated hypertensives with echocardiographic LVH and normal left ventricular systolic function. The criteria of 5th Joint National Committee stage I-III was used to define hypertension. Thirty four normotensives was assessed as controls. On a standard 12 lead ECG, the intervals between onset of QRS to end of T wave were measured(QT intervals) and corrected by heart rate(QTc). QT dispersion was calculated by the difference of maximal and minimal QTc. Left ventricular mass(LVM) was calculated from Devereux's formula using the parameters measured by the recommendation of American Society of Echocardiography. LVH was defined by LVM indices over 130 g/m2. RESULTS: LVM indices of hypertensive group were significantly greater than those of controls (162.2+/-39.3 g/m2 vs 84.2+/-16.1 g/m2, p<0.001). Maximal QT and QTc of hypertensive group were significantly prolonged than those of controls(maximal QT=401+/-31 ms vs 380+/-35 ms, p<0.05 ; maximal QTc=432+/-19 ms vs 414+/-17 ms, p<0.001). QT dispersions were significantly greater in hypertensive group than in controls(60.2+/-15.7 ms vs 33.2+/-11.7 ms, p<0.001). In hypertensive group, there was significant association between LVM index and QT dispersion(r=0.492, p=0.017). CONCLUSIONS: Hypertensives with LVH have a prolonged QT and QTc and increased QT dispersion in comparision with controls. QT dispersion in these patients correlates with degree of LVH.
Death, Sudden ; Echocardiography ; Electrocardiography ; Heart ; Humans ; Hypertension ; Hypertrophy, Left Ventricular* ; Joints ; Risk Factors ; Tachycardia, Ventricular

Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondroplasia, characterized by delayed development of the ossification centers and, deformities of the extremities that involve only the epiphysis and result in mild short stature. Mutations in the cartilage oligomeric matrix protein (COMP) gene are most commonly found, and most of the mutations are located in the calmodulin-like repeats and the C-terminal domain. We report a Korean kindred of?12 family members with MED in four generations who were found to have a novel mutation in the COMP gene. A pedigree showed early onset osteoarthritis requiring arthroplasty that was an autosomal dominant inherited trait. Radiological examinations demonstrated the presence of osteochondral defects in the medial femoral condyles, and the knee and hip joints showed variable degrees of precocious degenerative changes. Mutation analysis of the COMP gene in the proband and five other affected family members identified a novel missense mutation, c.1280G>C (p.Gly427Ala) in exon 12, which was not found in three unaffected family members. Direct sequencing of the COMP gene may yield pathogenic mutations in dominantly inherited MED cases, and may provide opportunities of carrier detection among high-risk family members, leading to genetic counseling for early diagnosis and intervention before the onset of complications.
Achondroplasia ; Arthroplasty ; Cartilage ; Congenital Abnormalities ; Early Diagnosis ; Epiphyses ; Exons ; Extracellular Matrix Proteins ; Extremities ; Family Characteristics ; Genetic Counseling ; Glycoproteins ; Hip Joint ; Humans ; Knee ; Mutation, Missense ; Osteoarthritis ; Osteochondrodysplasias ; Pedigree

The causes of the chylothorax can be classified to the congenital cases, such as the atresia of thoracic duct and thoracic duct-pleura fistula, and the acquired ones, such as thoracic surgery, trauma, malignant disease, venous thrombosis, infection and so on. We experienced a case of left chylothorax in a 10-year-old girl with a lymphangiomatosis of left thorax extending from axillar to buttock. She first received the two weeks of conservative management, which was unsuccessful to subside the chylothorax. Then she was taken the partial pleurectomy and chemical pleurodesis under the thoracoscopy as a surgical intervention, but this is also insufficient to reduce the chylous effusion. Finally she received 10 times of radiotherapy on left thorax, then the chylothorax is controlled completely.
Buttocks ; Child ; Chylothorax* ; Female ; Fistula ; Humans ; Pleurodesis ; Radiotherapy* ; Thoracic Duct ; Thoracic Surgery ; Thoracoscopy ; Thorax* ; Venous Thrombosis

Objective: We compared the osteoblastogenesis by serially administrating recombinant human bone morphogenetic protein-2 (rhBMP-2) and osteoprotegerin-immunoglobulin Fc segment complex (OPG-Fc). Methods: The MC3T3-E1 preosteoblast cell line was differentiated for 1, 3, and 7 days with a treatment of OPG-Fc in 10~200 ng/mL concentration and the cell viability was evaluated by Cell Counting Kit-8 analysis. The level of differentiation from MC3T3-E1 cells to osteoblasts was determined by alkaline phosphatase activity. The level of runt domain-containing transcription factor 2 (Runx2) and osteopontin (OPN) manifestation, involved in osteoblast differentiation, was examined by real-time polymerase chain reaction and western blotting. Results: During MC3T3-E1 cell differentiation, the differentiation level was high with 1-day treatment using 100 ng/mL OPGFc. The treatment with 50 ng/mL rhBMP-2 for 7 days, followed by 1-day treatment with 100 ng/mL OPG-Fc produced the highest differentiation level, which was approximately 5.3 times that of the control group (p<0.05). The expression of Runx2 mRNA significantly increased, reaching 2.5 times the level of the control group under the condition of 7-day treatment with rhBMP-2 and 1-day treatment with OPG-Fc (p<0.001). The expression of Runx2 protein significantly increased to approximately 5.7 times that of the control group under the condition of 7-day treatment with rhBMP-2, followed by 1-day treatment with OPG-Fc (p<0.01).The expression of OPN protein showed no change from that of the control group under various conditions of rhBMP-2 and OPGFc combinations. Conclusion These results imply that the treating preosteoblasts with rhBMP-2 first and then with OPG-Fc increased osteoblast differentiation efficacy.

There is an evidence for a role of apolipoprotein E (APOE) in atherosclerosis, coronary heart disease and carotid artery stenosis. Morbidity of carotid artery atherosclerosis is higher in persons carrying an epsilon4 allele, but the association of cerebrovascular disease and apoE genotype is controversial. We studied the association between APOE genotype and allele (epsilon2, epsilon3, epsilon4) frequency and stroke. We evaluated APOE genotype in 133 first -ever stroke patients and 111 healthy controls. We also estimated the risk factors of stroke such as hypertension, diabetes and lipid profiles in both groups. APOE genotypes were analyzed by polymerase chain reaction. APOE genotypes and allele distributions were not different in patients and controls. There is also no difference of APOE allele frequencies between ischemic small artery occlusive disease and hypertensive subcortical intracerebral hemorrhage. We concluded that the APOE -epsilon4 allele is not associated with stoke including ischemic and hemorrhagic stroke.
Alleles ; Apolipoproteins E ; Apolipoproteins* ; Arteries ; Atherosclerosis ; Carotid Arteries ; Carotid Stenosis ; Cerebral Hemorrhage ; Coronary Artery Disease ; Gene Frequency ; Genotype ; Heart Diseases ; Humans ; Hypertension ; Polymerase Chain Reaction ; Risk Factors ; Stroke*