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

The chest radiographs and angiograms were retrospectively evaluated in 47 patients with pulmonary atresia (PA) and ventricular septal defect (VSD) to determine the characteristic findings of major aortopulmonary collateral arteries (MAPCSs) on the chest radiographs. Of 47 patients, 23 had MAPCAs and 24 had only PDA for blood supply of whole right and left lung. Chest radiographs enabled identification of 16 of 23 patients with MAPCAs. The most common finding of MAPCAs was inappropriately large peripheral pulmonary vasculature (n=16, 69.6%). The other findings were tortuosity of pulmonary vasculature (n=12, 52.2%), focal unevendistribution of pulmonary vasculature (n=12, 52.2%), and two descending pulmonary arteries (n=4, 17.4%). When chest radiographs showed two or more findings of MAPCAs, MAPCAs could be differentiated from PDA with statistical significance (p<0.005). It is concluded that chest radiographs may help to identify MAPCAs before angiography if two-dimensional echo ardiography suggests PA with VSD.
Angiography ; Arteries* ; Heart Septal Defects, Ventricular* ; Humans ; Lung ; Pulmonary Artery ; Pulmonary Atresia* ; Radiography, Thoracic ; Retrospective Studies ; Thorax*

OBJECTIVES: More than half of the elders suffer from chronic sleep disturbances. Moreover, sleep disturbances are more prevalent in patients with depressive disorder than in community dwelling elderly. In this study, we aim to estimate the risk factors of poor sleep quality and its effect on quality of life in patients with late life depression. METHODS: This study included 159 depressive patients aged 65 years or older who completed Pittsburgh Sleep Quality Index (PSQI). A global PSQI score of 5 or greater indicates a poor sleeper. Structural diagnostic interviews were performed using the Korean version of Mini International Neuropsychiatric Interview (MINI). Depression was evaluated by the Korean form of Geriatric Depression Scale (KGDS). Global cognition was assessed by Mini-Mental State Examination in the Korean version of the Consortium to Establish a Registry for Alzheimer's Disease assessment packet. Quality of life was evaluated by the Korean version of Short-Form 36-Item Health Survey (SF-36). RESULTS: The frequencies of poor sleepers were 90.5% in major depressive disorder, 71.8% in minor depressive disorder, 47.1% in subsyndromal depressive disorder, and 73.0% in all types of depressive disorders. Multivariate logistic regression analysis indicated that female [odds ratio (OR) = 2.83, 95% confidence interval (CI) = 1.20-6.67] and higher KGDS score (OR = 1.13, 95% CI = 1.05-1.21) were risk factors of poor sleep quality in patients with late life depression. In the analysis of ANCOVA adjusted for age, gender, education and KGDS score, the mean scores of vitality mental health and mental component summary of SF-36 were lower in poor sleepers than in good sleepers. CONCLUSIONS: Poor sleepers among patients with late life depression are very common and are associated with female and higher KGDS scores. Poor sleep quality causes a significant negative effect on mental health quality. So researchers and clinicians should be more vigilant in the evaluation and treatment of sleep disturbances in patients with late life depression.
Aged* ; Alzheimer Disease ; Cognition ; Depression* ; Depressive Disorder ; Depressive Disorder, Major ; Education ; Female ; Health Surveys ; Humans ; Logistic Models ; Mental Health ; Quality of Life* ; Risk Factors

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

During hemorrhagic shock, liver is susceptible to ischemia and decreased hepatic energy charge results in decreasing arterial ketone body ratio(AKBR). Reperfusion after hemorrhagic shock can greatly amplify the generation of toxic oxygen metabolites. As a result, the fluxes of these highly toxic metabolites can overwhelm the endogenous antioxident defense mechanisms and lead to tissue injury. In order to observe the effect of glutathione(GSH) on the AKBR in hemorrhagic shock, dogs(n=16) were anesthetized with 1% enflurane in 02. We pretreated glutathione (100 mg/kg) intravenously before hemorrhagic shock in glutathione (GSH) group (n=8). Shock was induced with bleeding and mean arterial pressure was maintained 50 mmHg for 30 minutes. Recovery from shock was done with transfusion of preserved blood and maintained for 30 minutes. We measured arterial ketone bodies and ketone body ratio before, during and after shock, and compared them to control group (n=8) which was not pretreated with glutathione. AKBR during and after hemorrhagic shock in GSH group (0.8 and 1.0) were higher than those in control group (0.5 and 0.8). Light microscopic examination of liver biopsy revealed less portal degeneration during and after hemorrhagic shock in GSH group than control group. Pharmacologic modulation of hepatocytic function with glutathione before hemorrhagic shock has shown some beneficial effect with protection of decreased AKBR and histological change during and after hemorrhagic shock.
Animals ; Arterial Pressure ; Biopsy ; Defense Mechanisms ; Dogs* ; Enflurane ; Glutathione* ; Hemorrhage ; Ischemia ; Ketone Bodies ; Liver ; Oxygen ; Reperfusion ; Shock ; Shock, Hemorrhagic*

BACKGROUND: Activated fibrinolysis during cardiopulmonary bypass(CPB) is one of the causes of post CPB coagulopathy. Antifibirinolytics such as tranexamic acid have been administered prophylactically before CPB to decrease postCPB bleeding. However, their routinely application has been challenged as regarding it's thrombotic complication. This study was performed to evaluate the effect of tranexamic acid administered before CPB by thromboelastography. METHODS: 50 open heart surgical patients were randomly selected and devided into two groups, control(N=25) and tranexamic acid group(N=25). In tranexamic acid group. 125mg of tranexamic acid were singly infused before vena caval and aortic cannulation. All of parameters of thromboelastography (TEG) and fibrin degradation products measured before and after CPB were compared between two groups. RESULTS: There were no significant differences in fibrinolytic indexes of TEGs between control group and tranexamic group afte CPB. And there were also no changes in fibrinolysis index between before and after CPB in both groups. The concentration of FDP did not changed after CPB in both groups. CONCLUSIONS: It may be considered that prophylactic administration of tranexamic acid before CPB to reduce post-CPB bleeding would not be recommended routinely.
Catheterization ; Fibrin Fibrinogen Degradation Products ; Fibrinolysis* ; Heart* ; Hemorrhage ; Humans ; Thoracic Surgery* ; Thrombelastography ; Tranexamic Acid*

During orthotopic liver transplantation (OLT), changes of hemodynamic, electrolytes and acid-base balance are frequently occurred. These changes may influence mortality and prognosis during and after surgery. The purpose of this study was to observe and evaluate the changes of hemodynamics and electrolytes occurring in 14 cases canine OLT. After insertion of endotracheal tube, anesthesia was maintained with 1%enflurane and pancuronium bromide. Swan-Ganz catheter(7.5 Fr.) was inserted into right external jugular vein and 20 gauge angiocatheter was also inserted into left femoral artery. Complete hemodynamic variables and electrolytes were measured 30 minutes after skin incision, anhepatic stage, 5 minutes before reperfusion, 5 and 30 minutes after reperfusion. The results were as follows; On reperfusion of grafted liver, 9 cases(64%) showed postreperfusion syndrome. In 9 cases showing Postreperfusion syndrome, cardiac output, systemic vascular resistance, mean pulmonary arterial pressure were decreased and serum potassium concentration was increased on reperfusion, but there were no significant changes in central venous pressure, pulmonary capillary wedge pressure, heart rate, body temperature and serum ionized calcium concentration when comparing with before reperfusion. Decreased mean arterial pressure during reperfusion in postreperfusion syndrome might be speculated through decrease of myocardial contractility and systemic vascular resistance.
Acid-Base Equilibrium ; Anesthesia ; Animals ; Arterial Pressure ; Body Temperature ; Calcium ; Cardiac Output ; Central Venous Pressure ; Dogs ; Electrolytes ; Femoral Artery ; Heart Rate ; Hemodynamics* ; Jugular Veins ; Liver Transplantation* ; Liver* ; Mortality ; Pancuronium ; Potassium ; Prognosis ; Pulmonary Wedge Pressure ; Reperfusion ; Skin ; Transplants ; Vascular Resistance

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

BACKGROUND: Portal triad clamping was first described by Pringle in 1908 as a mean of reducing bleeding from the cut surface of the liver during parenchymal resection. More recently some studies have reported that one period of portal triad clamping could be well tolerated for a longer duration, 60~90 minutes. The liver, generally, is believed to be very sensitive to anoxic damage and susceptible to ischemia and decreased hepatic energy charge results in decreasing arterial ketone body ratio (AKBR) during portal triad clamping. METHODS: In order to observe an adverse effects to liver in 30 minutes and 60 minutes of portal triad clamping on AKBR and histologic changes,rabbits were divided into thirty minutes of portal triad clamping in one group (Group I) and 60 minutes of that in the other group (Group II). RESULTS: During clamping, the mean AKBR of group I and II were 0.39 and 0.44, and decreased significantly compared with the mean AKBR (1.08 and 1.02) before clamping. Five minute after declamping, the mean AKBR of group II (0.49) was lower (P<0.05) than that of group I (0.63), but 30 minutes afterdeclamping, the AKBR of two groups had little difference (group I ; 0.57, group II 0.59, P>0.05). Under light microscopic examination of liver biopsy, there was no visible diffrences between two groups during clamping, 5 minutes and 30 minutes after declamping. CONCLUSIONS: It was concluded that there was no difference in hepatic energy change(AKBR) and histologic change under light microscopy after 30 minutes declamping between two groups.
Biopsy ; Constriction ; Hemorrhage ; Ischemia ; Liver ; Microscopy ; Rabbits*

OBJECTIVES: We investigated the effects of sleep apnea syndrome (SAS) on cognitive functions in patients with REM sleep behavior disorder (RBD). We also studied correlations between sleep variables related with SAS and parameters of cognitive function tests. METHODS: Twenty two RBD patients with SAS and 20 RBD patients without SAS participated in the study. The diagnoses of RBD and SAS were confirmed on polysomnography. All the participants performed neuropsychological tests by the Korean version of the Consortium to Establish a Registry for Alzheimer's disease (CERAD-K) Assessment Packet. RESULTS: There were no differences between two groups in age and sex, education, body mass index, and results of the Beck depression inventory (BDI) and the Epworth sleepiness scale (ESS). No difference was found in any of parameters of the CERAD-K between two groups. The cognitive functions were not correlated with BDI, ESS, or variables related with SAS. CONCLUSION: SAS had no influence on cognitive functions of RBD patients. The result could be explained by negligible effects of SAS on cognitive functions among aged population and no difference in daytime sleepiness between the RBD patients with and without SAS.
Aged ; Alzheimer Disease ; Body Mass Index ; Depression ; Humans ; Neuropsychological Tests ; Phenothiazines ; Polysomnography ; REM Sleep Behavior Disorder ; Sleep Apnea Syndromes ; Sleep, REM