• Clinical and Experimental Pediatrics
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• v.52 no.10
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• pp.1171-1174
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• 2009

Edwards syndrome, also called trisomy 18, is one of the most common autosomal anomalies. The survival rate of patients with Edwards syndrome is very low and its characteristic findings include cardiac malformations, mental retardation, growth retardation, specific craniofacial anomalies, clenched hands, rocker-bottom feet, and omphalocele. Compared with the classic Edwards syndrome, the symptom of partial duplication of chromosome 18 is relatively mild with a good prognosis. We report the case of a baby with partial duplication 18q11.2-q12. The characteristic phenotype features of Edwards syndrome were observed in the patient. However, the symptom was milder than the typical Edwards syndrome. At present, we can expect better prognosis for this patient.

• Journal of the korean academy of Pediatric Dentistry
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• v.35 no.2
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• pp.319-323
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• 2008

Edward's syndrome is a genetic disorder of 18th chromosomal trisomy. Main clinical features of this syndrome include systemic conditions, such as mental retardation, growth retardation, dyspnea, congenital heart disease, and orthopedic disorders, such as flexion deformity and rocker-bottom feet. The characteristics of fetal abnormality are hydramnios, small placenta, common umbilical artery. Infants with Edward's syndrome have very low survival rate. Almost half of them die during fetal stage. Fifty percent of them survive 2 months, and 5 to 10 percent of them survive about 1 year. A 3-year and 7 month old girl visited our dental hospital for the treatment of dental caries. Considering her systemic disease, low body weight, medical history of cardiac surgery, and difficulty in airway management, dental procedure was performed under general anesthesia. We report this case with review of literatures.

• Journal of Chest Surgery
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• v.12 no.3
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• pp.183-190
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• 1979

A 23-year-old male patient complained dyspnea on exertion and orthopnea since December 1977. On examination, he was tall and slender. There was grade IV/VI to-and-fro murmur on the left sternal border especially on Erb`s point. The liver was descended 2 fingers breadth below right costal margin. There were no signs of Marfan`s syndrome. Echocardiography demonstrated partial closure of aortic valve and dilated aortic root with enlargement of ascending aorta. Left heart cardiac catheterization revealed moderately elevated pulmonary wedge pressure and right ventricular pressure. The left ventricular end diastolic pressure was markedly elevated to 26 mmHg. On aortography, the aortic regurgitation was severe and it was belonged to angiographically Grade IV. The aortic valve was replaced with Carpentier-Edwards valve without excision and replacement of ascending aorta, under the impression of rheumatic valvular heart disease. After closure of aortotomy, blood pressure was transiently elevated and bleeding from the site of inserting air vent needle of ascending aorta was developed. The bleeding was not controlled by any means. On postmortem microscopic study, the histologic changes were strikingly limited to the ascending aorta from the region of the aortic valve ring.

• Clinical and Experimental Pediatrics
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• v.50 no.9
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• pp.875-881
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• 2007

Purpose : Chromosome analysis is important in genetic study and genetic counseling. This study was performed to evaluate the type and incidence of chromosome abnormalities in a single hospital for 25 years. Methods : Chromosome analyses were performed on peripheral blood lymphocytes, obtained from 4,856 patients with suspected chromosomal aberrations, referred to cytogenetic laboratory in Department of Pediatrics, Kyungpook National University Hospital from May 1981 to October 2005. Results : We analyzed 4,567 cases. Children were 3,014 cases (66.0%) and adult were 1,553 cases (34.0 %). The most common purpose of the chromosomal analysis was growth and developmental abnormality in children and infertility in adults. Total chromosomal aberration rate was 16.9% (770/4,567). Among those cases, the numerical abnormalities were 12.2% (558 cases), the structural abnormalities were 4.1% (187 cases), and others were 0.5% (25 cases). The relative frequencies of autosomal abnormalities were 6.4% (294 cases) in Down syndrome; 0.2% (7 cases) in Edwards syndrome; 0.1% (4 cases) in Patau syndrome; 0.2% (10 cases) in other abnormalities, of sex chromosome, 2.9% (131 cases) in Klinefelter syndrome; 2.2% (99 cases) in Turner syndrome; 0.2% (8 cases) in 47, XXX; 0.1% (3 cases) in 47, XYY. Among the structural abnormalities, translocation was 1.8% (84 cases), inversion was 0.8% (37 cases), deletion was 0.4% (17 cases), and insertion was 0.3% (13 cases), in order of frequency. Conclusion : In this study, the type, incidence and distribution of cytogenetic abnormalities by karyotype were reviewed. We hope that our study could be used as a basic information on the diagnosis, treatment and genetic counseling for chromosome abnormalities in Korea.

• Journal of Chest Surgery
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• v.16 no.4
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• pp.476-484
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• 1983

Ventricular septal defect[VSD] associated with aortic regurgitation[AR] represents 2 to 7.5% of all VSD which is most common congenital heart disease. The aortic valve may by normal in infants with VSD, but the aortic regurgitation may be developed in these patients later. The aortic valve became fibrotic, thickened, deformed and prolapsed, so these late deformities require to be corrected with plication, valvuloplasty or aortic valve replacement [AVR]. There are some controversy between the early repair of VSD alone and the late repair of VSD and aortic valve till now. From December 1971 to August 1983, we had experienced 24 patients of VSD associated with AR which constitute 6.5% of our total patients with VSD. The VSD was subpulmoary [type I] in 14[58.3%], subcristal [type II] in 8[33.3%], atrioventricular canal type[type III] in 1, and combine of type I and II in 1. Patch repair of VSD was made in 15 patients and direct suture of small VSD in 9.14 patients had aortic plication of valvuloplasty and 9 had AVR accompanying VSD repair, and 1 patient had VSD closure alone. The postoperative courses of these patients were uneventful except in some cases. A patient who was undertaken AVR with Starr-Edwards ball valve and VSD closure, died due to left ventricular failure and low cardiac output syndrome. Follow up shows, in 14 patients with aortic plication or valvuloplasty, AR was developed in 9. In 9 AVR, there were two later complications which were paravalvular leakage in one and re-AVR due to subacute bacterial endocarditis in another.

• Journal of Chest Surgery
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• v.10 no.2
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• pp.315-326
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• 1977

From 1958 to October 1977, 294 cases of acquired heart disease were operated. There were 68 cases of pericardium, 3 trauma, 2 foreign body, one cardiac thrombus, 3 atrial myxoma, 2 left atrial and 1 right atrial, 2 Budd-Chiari syndrome, and 214 valvular heart disease. Out of 214 cases of valve operation 73 valves were replaced in 64 patients. Male to female ratio was 1.46: 1. The youngest age was 14 years in male and 18 in female. The oldest was 54 years in male and 52 in female. Fifty-five cases of single valve were replaced, consisting of 47 mitral and 8 aortic valves. There were 9 double valve replacement cases which consist of 7 mitral and aortic and 2 mitral .and tricuspid valves. Six varieties of prosthetic valves, 3 ball and 3 disc types and 3 kinds of xenograft tissue valves were utilized. Beall, BjSrk-Shiley and Starr-Edwards prosthetic valves and Hancock valves were used mainly. For single valve 34. 5% and for double valve replacement 44% mortality were noted. There were 23 operative deaths out of 64 patients, over all mortality rate of 36.9%. Mortality for mitral valve replacement was 29.5%. But in recent 12 consecutive cases one death occurred, showing 8.3% mortality. In earlier days thrombocyte anti-adhesive drug dipyramidole-persantin-aspirin and/or SP 54 were adminstered. But in recent cases after heparinization, coumadin and Persantin were prescribed routinely.

• Journal of Chest Surgery
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• v.18 no.3
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• pp.446-455
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• 1985

A total and consecutive 156 patients have undergone cardiac valve surgery including 13 closed mitral commissurotomy, 13 open mitral commissurotomy, one mitral annuloplasty, 75 mitral valve replacement, one aortic annuloplasty, 24 aortic valve replacement, 3 tricuspid valve replacement, 25 double valve replacement and one triple valve replacement. 155 prosthetic valves were replaced in a period between September 1976 and August 1985. There were 68 males and 88 females with age range from 8 to 69 yrs [mean 36.5 yr]. Out of replaced valves, 61 was tissue valve including 54 Carpentier-Edwards, and 4 was mechanical valves including 74 St. Jude Medical, and the position replaced was 101 valves for mitral, 46 for aortic and 8 for tricuspid. Single valve replacement in 102 cases, double valve replacement in 25 cases [17 for AVR+MVR, and 8 for MVR+TVR], and only one case was noted in the triple valve replacement. Early mortality within 30 days after operation was noted in 11 cases [7%]; 7 after MVR, 2 after DVR, and each one after open mitral commissurotomy and mitral annuloplasty. Cause of death was valve thrombus, cerebral air embolism, low output syndrome, uncontrollable arrhythmia, parapneumonic sepsis, acute cardiac tamponade and left atrial rupture. 7 late deaths were noted during the follow-up period from 1 to 104 months [average 48 month]; three due to valve and left atrial thrombus formation, two due to CVA from overdose of warfarin, and each one due to congestive heart failure and chronic constrictive pericarditis, Anticoagulants after prosthetic valve replacement were maintained with warfarin, dipyridamole and aspirin to the level of around 50% of normal prothrombin time in 79 cases, and Ticlopidine with aspirin in 47 cases to compare the result of each group. There were 11 major thromboembolic episodes including 3 deaths in the warfarin group. Two cases of CVA due to overdose of warfarin was noted in the warfarin group. In the ticlopidine group, there was only one left atrial thrombus confirmed at the time of autopsy. Among the survived 138 cases, nearly all cases[136 cases] were included in NYHA functional class I and II during the follow-up period. In conclusion, surgical treatment of the cardiac valve disease in 156 clinical cases revealed excellent result with acceptable operative risk and late mortality. Prevention of thrombus formation with anti-platelet aggregator Ticlopidine has better result than warfarin group presently with no specific side effect such as bleeding or gastrointestinal trouble.

• The Journal of Korean Academic Society of Nursing Education
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• v.24 no.4
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• pp.463-477
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• 2018

Purpose: This study identifies correlations among information needs and knowledge about prenatal genetic screening and diagnosis (I-PGSD & K-PGSD), and attitude toward terminating pregnancy (ATP) among pregnant women in South Korea. Methods: A descriptive survey was conducted from January 2013 to April 2014 in South Korea. 222 pregnant women responded to three questionnaires developed by the authors. The questionnaire for I-PGSD consisted of 19 questions; 18 questions for K-PGSD; and 10 questions for ATP. Results: Mean scores were $80.46{\pm}11.73$ for I-PGSD; $14.86{\pm}3.74$ for K-PGSD; and $33.71{\pm}6.13$ for ATP. The ATP score was positively correlated with the I-PGSD and K-PGSD scores, but statistically significant with only I-PGSD (p=.006). I-PGSD scores were higher than average on three genetic syndromes (Down, Patau, and Edwards syndrome), on management after the diagnosis of positive fetal aneuploidy, and on test result interpretation after the amniocentesis and level II fetal ultrasonogram. Conclusions: In light of current legal and moral controversy regarding terminating pregnancy and rapidly advancing prenatal genetic testing technology, more prenatal genetic education for nurses and nursing students who teach pregnant women is needed. In addition, more professional counseling services provided by trained nurses are also required.

• Journal of Genetic Medicine
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• v.4 no.2
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• pp.190-195
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• 2007

Purpose : FISH is suggested as a useful tool for rapid detection of specific aneuploidy in uncultured amniocytes abnormality in interphase nucleus. In this study, we are going to share our experience using FISH in prenatal diagnosis and suggest the criteria for the diagnosis of aneuploidy by analyzing the results of FISH test. Methods : From January, 1999 to May, 2006, 8,613 tests in amniotic fluids obtained from 7,893 pregnant women were performed by using FISH for prenatal diagnosis of trisomy 21, trisomy 18 and trisomy 13. The indications of chromosome study were a screen positive for Down syndrome or Edwards syndrome in maternal serum marker screening test and an advanced maternal age (${\geq}35$ years old). Results : We have the 8,502 informative results from 8,613 tests (98.7%) which is submitted our criteria and the sensitivity is 98.2%. Conclusion : FISH on uncultured amniocytes is a rapid, clinically useful tool for prenatal diagnosis, with informative specimens being highly accurate. But the limitation of FISH is both expensive and labor-intensive.

• Journal of Chest Surgery
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• v.29 no.10
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• pp.1102-1110
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• 1996

Between Oct. 1985 and July 1995, 230 patients underwent mitral valve replacement. There were 77 men and 153 women whose mean age was 35.7 years, range 9 to 62 The concomitant operations were 40 aortic valve replacements(17.4%), 25 tricuspid annuloplasties(10.4%), 8 aortic valve replacements & tricuspid annuloplasties(3.5%), 2 tricuspid valve replacements(0.9%) and others, We used 139 mechanical (76 51. Jude medical, 33 CarboMedics, 30 Sorin) and 91 tissue 386 Carpentier-Edwards, 5 lonescu-Shiley) valves. The early postoperative complications occurred in 28 cases. There were 8 low cardiac output syndrome, 5 pleural effusion, 3 significant arrhythmia, 2 cardiac rupture and others. There were 6 early hospital deaths (2.6%) due to low cardiac output syndrome(2), arrhythmia(2) and ventricul r rupture(2). The cuAmulative notal follow-up period was 764. 4 patient-years with a mean of 4).9 months. The long term follow-up information was available for 212 patients(94.6%). There were 21 cases of valve-related complications. Prosthetic valve failure(10), anti-coagulation related bleeding (5), prosthetic valve endocarditis (4), and thromboembolism (2) occurred at rates of 1.3, 0.7, 0.5, and 0.3%Ipt-yr respectively. Late death occurred In 5 cases (0.7%/pt-yr) associated with prosthetic valve endocarditis (2), heart failure (2) and anti-coagulation related bleeding (1). There was no difference in the rate of freedom from prosthetic valve failure between the mechanical and tissue valve group at 6 years (100%), but there was significant difference at 9 years between the tissue (34.4%) and mechanical valve (100%) group (p=0.032). Actuarial survival rates were 98. 8% in tissue valve. 9).7% in mechanical valve group and 96.6% in total patients at 9 years.