• Clinical and Experimental Reproductive Medicine
• /
• v.29 no.4
• /
• pp.269-278
• /
• 2002

Objective s: Chromosome aneuploidy is associated with recurrent abortion and congenital anomaly and genetic diseases occur repeatedly in the specific families. Preimplantation genetic diagnosis (PGD) can prevent aneuploidy or genetic disease by selecting normal embryos before implantation and is an alternative to prenatal diagnosis. The aim of this study is to assess the outcome of PGD cycles by using FISH or PCR, and to determine the clinical usefulness and values in patients with risk of chromosomal aneuploidy or genetic disease. Materials and Methods: From 1995 to Apr. 2001, a total of 108 PGD cycles in 65 patients with poor reproductive outcome were analyzed. The indications of PGD were translocation (n=49), inversion (n=2), aneuploidy screening (n=7), Duchenne muscular dystrophy (n=5) and spinal muscular atrophy (n=2). PGD was applied due to the history of recurrent abortion, previous birth of affected child or risk of aneuploidy related to sex chromosome aneuploidy or old age. Blastomere biopsy was performed in 6$\sim$10 cell stage embryo after IVF with ICSI. In the single blastomere, chromosome aneuploidy was diagnosed by using FISH and PCR was performed for the diagnosis of exon deletion in DMD or SMA. Results: The FISH or PCR amplification was successful in 94.3% of biopsied blastomeres. The rate of transferable balanced emb ryos was 24.0% in the chromosome translocation and inversion, 57.1% for the DMD and SMA, and 28.8% for the aneuploidy screening. Overall hCG positive rate per transfer was 17.8% (18/101) and clinical pregnancy rate was 13.9% (14/101) (11 term pregnancy, 3 abortion, and 4 biochemical pregnancy). The clinical pregnancy rate of translocation and inversion was 12.9% (11/85) and abortion rate was 27.3% (3/11). In the DMD and SMA, the clinical pregnancy rate was 33.3% (3/9) and all delivered at term. The PGD results were confirmed by amniocentesis and were correct. When the embryos developed to compaction or morula, the pregnancy rate was higher (32%) than that of the cases without compaction (7.2%, p<0.01). Conclusions: PGD by using FISH or PCR is useful to get n ormal pregnancy by reducing spontaneous abortion associated with chromosome aneuploidy in the patients with structural chromosome aberration or risk of aneuploidy and can prevent genetic disease prior to implantation.

• Child Health Nursing Research
• /
• v.2 no.2
• /
• pp.45-57
• /
• 1996

A serious disease in a family influences the entire family member given the fact that the members closely interact with each other. Especially in terms of pediatric nursing, study on family gains importance as the need to care of families whose children with developmental disabilities and chronic disease This study was done based on The Resiliency Model of Family Adjustment and Adaptation(McCubbin, 1991) is intended to examine the stress of parents whose children suffer from cleft lip or /and cleft palate. It also helps them to cope with the stress and analyze the relationship between the stress and coping This study used Family Inventory of Life Events and Changes (FILE) and Coping Health Inventory for Parents(CHIP) for measuring family stress and coping. The two instruments are revised to fit the social and cultural environment of Korean culture. Data collection was done from April 18, 1996 to May 18, 1996 at 8 University medical centers located in Seoul. Those who answered questionnaires were 84 parents whose children have cleft lip or /and cleft palate. SPSS PC+ was used to analyze the data collotted. Programs used for data analysis were t-test, ANOVA, Pearson correlation coefficient. The study is summarized as follows .1. The average score of family stress is 10.46(percentage of the full score 24.90) and 'finance and business strains'(3.25), and 'intrafamily strains'(2.65) ranked the highest. The average score of family's coping is 1.93, which is close to the answer of' moderately helpful' and they are measured to put their utmost efforts to' intergration and cooperation of family and optimistic definition on the situation'. 2. There is no significant statistical correlation between the family stress and coping. 3. Mothers show more stress than fathers in the parts of 'illness and family care strains' and 'losses'(t〓-2.34, t〓-2.32, p<.05). 4. Fathers show more willingness to cope with the stress than mothers do in the parts of' seeking social support','self-esteem','emotional comfort' 5. Mothers are more stress than fathers in the parts of family stress and its coping with it by usual traits(t〓-2.78, p<.05). Parents with religion are measured to cope more willingly than those who are not 6. Income of a family shows positive correlationship with family coping (r〓.28, p<.05). The study shows that gender difference is significant variable in studying on family stress and coping. Mothers get more stress than fathers, which has much to do with the fact that they are in charge of raising children and keeping houseworks. Accordingly, managing family crisis and its survival can be induced by giving support for the mothers, studying fathers including the rest of the family members and giving nursing care and arbitration ; religious background is also considered to be one of the important factors in family stress , judging from the relationship between family income and family's coping, caring given to suffering children is needed on societal levels. The above considerations bring up the need to have a longitudinal study of children with congenital anomaly including cleft lip or /and cleft palate and their families about family stress and coping. Resiliency programs on family system and their effectiveness and the relationship between the enlarged families with social and cultural values reflecting Korean tradition are also needed to be studied.

• Journal of Chest Surgery
• /
• v.38 no.6 s.251
• /
• pp.403-409
• /
• 2005

Pulmonary atresia with intact ventricular septum is morphologically heterogeneous, and the surgical outcome remains suboptimal compared to other complex congenital heart defects. We evaluated the long-term results for repair of pulmonary atresia with intact ventricular septum, Material and Method: Between January 1992 and June 2004, 38 patients underwent repair of pulmonary atresia with intact ventricular septum. The average age was 18 days $(2\~382\;days)$. The average Z-value of the tricuspid annulus diameter was -3.1$(-5.6\~0.8)$. Thirteen $(36\%)$ patients had right ventricle-to-coronary artery fistulas, and $4(11\%)$ patients had right ventricle-dependent coronary circulation. Average follow-up was 55 months $(3\;months\~2.2\;years)$, Result: Twenty-four patients under-went initial right ventricle (RV) decompression and 14 patients underwent systemic-to-pulmonary arterial shunt only. The average size of the tricuspid annulus of the patients who underwent RV decompression was significantly larger than that of the patients who underwent systemic-to-pulmonary arierial shunt only (Z-value -2.2 vs. -4.8, p=0.000). There were $5(13\%)$ early and 1 late deaths. Early deaths occurred in 3 patients who had undergone RV decompression, and in 2 patients who had undergone systemic-to-pulmonary arterial shunt only (p=1.0). Biventricular repair was achieved in $12(32\%)$ patients, single ventricular repair in $8(21\%)$, and one and a half ventricular repair in $4(l1\%)$ patients. Nine $(24\%)$ patients are waiting for the definitive repair. Kaplan-Meier survival at 5 and 8 years was $83.2\%$, respectively. Conclusion: Most of the deaths occurred after the initial palliation. Overall long-term survival was satisfactory. Early mortality should be reduced with careful preoperative evaluation and proper surgical strategy.

• Journal of Chest Surgery
• /
• v.35 no.6
• /
• pp.430-438
• /
• 2002

It is known that low birth weight is a risk factor for poor outcome in cardiac surgery for many cardiac defects. We reviewed our recent surgical experiences on congenital heart defect (other than patent ductus arteriosus) in low birth weight babies. Material and Method: From September 1994 to February 2001, 31 consecutive infants weighing 2500 g or less underwent cardiac surgery with (OHS group n=12) or without cardiopulmonary bypass (CHS group n=19). A retrospective study was carried out to evaluate short-and intermediate-term outcome. Mean gestational age and age at operation were 36.9 weeks(range, 32.3-42weeks) and 32.1days (range, 0-87days) respectively. Mean body weight at birth and operation were 1972g (range, 1100-2500g) and 2105g (range, 1450-2500 g) respectively. There was no difference between the two groups in age and body weight. Defects included ventricular septal defect (VSD) (n=3), VSD with arch anomaly (n=2), total anomalous pulmonary venous return (n=2), transposition of the great arteries (TGA) (n=2), truncus arteriosus (n=2), and univentricular heart with cor triatriatum (n=1) in OHS group, and coarctation of aorta (n=7), tetralogy of Fallot (TOF) (n=3), TOF with pulmonary atresia (n=3), multiple muscular VSDs (n=1), double outlet right ventricle (n=1), pulmonary atresia with intact ventricular septum (n=2), tricuspid atresia (n=1), and TGA with multiple VSD (n=1) in CHS group. 13 patients (41.9%) were intubated pre-operatively. Result: There were 4 early deaths(＜30 days); 1 (8.3%) in OHS group and 3 (15.8%) in non-OHS group. All these early deaths were related to the pulmonary artery banding(PAB). There was no operative mortality in infants undergoing complete repair and palliative operations other than PAB. Delayed sternal closure was required in 3 patients. Prolonged postoperative mechanical ventilation (>7 days) was required in 7 patients(58.3%) in OHS and 7(38.8%) in CHS group. Late mortality occurred in 3 patients, two of which were non-cardiac. A patient in OHS group was documented to have neurologic sequelae. All the survivors except two are in NYHA class 1. Conclusion: Complete repair and palliative operations other than PAB can be performed in low birth weight infants with low operative mortality and an acceptable intermediate-term result. However, about a half of the patients required long-term postoperative mechanical ventilation.

• Journal of Preventive Medicine and Public Health
• /
• v.30 no.3 s.58
• /
• pp.585-598
• /
• 1997

Background : Although there are growing concerns about the adverse health effect of air pollution, not much evidence on health effect of current air pollution level had been accumulated yet in Korea. This study was designed to evaluate the chronic health effect of ai. pollution using Korean Medical Insurance Corporation (KMIC) data and air quality data. Medical insurance data in Korea have some drawback in accuracy, but they do have some strength especially in their national coverage, in having unified ID system and individual information which enables various data linkage and chronic health effect study. Method : This study utilized the data of Korean Environmental Surveillance System Study (Surveillance Study), which consist of asthma, acute bronchitis, chronic obstructive pulmonary diseases (COPD), cardiovascular diseases (congestive heart failure and ischemic heart disease), all cancers, accidents and congenital anomaly, i. e., mainly potential environmental diseases. We reconstructed a nested case-control study wit5h Surveillance Study data and air pollution data in Korea. Among 1,037,210 insured who completed? questionnaire and physical examination in 1992, disease free (for chronic respiratory disease and cancer) persons, between the age of 35-64 with smoking status information were selected to reconstruct cohort of 564,991 persons. The cohort was followed-up to 1995 (1992-5) and the subjects who had the diseases in Surveillance Study were selected. Finally, the patients, with address information and available air pollution data, left to be 'final subjects' Cases were defined to all lung cancer cases (424) and COPD admission cases (89), while control groups are determined to all other patients than two case groups among 'final subjects'. That is, cases are putative chronic environmental diseases, while controls are mainly acute environmental diseases. for exposure, Air quality data in 73 monitoring sites between 1991 - 1993 were analyzed to surrogate air pollution exposure level of located areas (58 areas). Five major air pollutants data, TSP, $O_3,\;SO_2$, CO, NOx was available and the area means were applied to the residents of the local area. 3-year arithmetic mean value, the counts of days violating both long-term and shot-term standards during the period were used as indices of exposure. Multiple logistic regression model was applied. All analyses were performed adjusting for current and past smoking history, age, gender. Results : Plain arithmetic means of pollutants level did not succeed in revealing any relation to the risk of lung cancer or COPD, while the cumulative counts of non-at-tainment days did. All pollutants indices failed to show significant positive findings with COPD excess. Lung cancer risks were significantly and consistently associated with the increase of $O_3$ and CO exceedance counts (to corrected error level -0.017) and less strongly and consistently with $SO_2$ and TSP. $SO_2$ and TSP showed weaker and less consistent relationship. $O_3$ and CO were estimated to increase the risks of lung cancer by 2.04 and 1.46 respectively, the maximal probable risks, derived from comparing more polluted area (95%) with cleaner area (5%). Conclusions : Although not decisive due to potential misclassication of exposure, these results wert drawn by relatively conservative interpretation, and could be used as an evidence of chronic health effect especially for lung cancer. $O_3$ might be a candidate for promoter of lung cancer, while CO should be considered as surrogated measure of motor vehicle emissions. The control selection in this study could have been less appropriate for COPD, and further evaluation with another setting might be necessary.

• The Korean Journal of Nuclear Medicine Technology
• /
• v.23 no.2
• /
• pp.25-28
• /
• 2019

Purpose In patients with unusual kidney position after $^{99m}Tc-DTPA$ renal dynamic imaging study, the GFR(Glomerular Filtration Rate) values are significantly different according to the depth of the kidney. Thus, we tried to compare the difference of the GFR values between the depth measurement methods and in-vitro test. 30 adult patients who were subjected to renal study. 27 patients were in usual position and 3 patients were in unusual. $555{\pm}37MBq$ of $^{99m}Tc-DTPA$ was administrated to all patients. GE infinia gamma camera was used. GFR values were obtained in-vivo(gates method) and in-vitro(blood). The kidney depth in-vivo was calculated by three methods(tonnensen, manual, taylor). In-vitro, GFR was performed by blood test. Differences in the mean values of GFR and correlation between depth and GFR values were evaluated using the SPSS 12.0 statistical program. The GFR values for 27 patients with kidney in the usual position are as follows(1.tonnensen 2.manual 3.taylor 4.invitro); $69.3{\pm}4.2$, $88.2{\pm}5.6$, $77.8{\pm}4.3$, $82.2{\pm}5.8ml/min$. The three unusual cases are as follows, first(congenital renal anomaly): 66.4, 101.24, 69.07, 94.8 ml/min. second(transplantation kidney): 12.22, 29.99, 19.36, 23.5 ml/min. third(horseshoe kidney): 37.37, 93.54, 35.9, 92.5 ml/min. There was a difference between tonnensen and manual in the usual position of the kidney(p<0.05). There was no significant difference between the other methods. However, there was a significant difference in case of the unusual position of the kidneys. Correlation analysis between both kidney depth and GFR value shows person correlation as follows; Rt kidney: 0.298, Lt kidney: 0.322. When compared with the GFR values in-vitro test, it was useful to calculate the GFR value by measuring the kidney depth using a manual formula in the unusual position of the kidneys. GFR values and kidney depth were significantly related.