• Journal of Genetic Medicine
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• 제5권2호
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• pp.136-138
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• 2008

Townes-Brocks 증후군은 이형성 귀, 청력 상실, preaxial polydactyly, triphalangeal thumbs, 쇄항, 신기형, 선천성 심질환, 정신 지체 등을 동반하는 다기형의 상염색체 우성 유전질환이다. 그러나 갑상선 기능저하증은 Townes-Brocks 증후군의 흔한 특징은 아니다. 현재까지 갑상선 기능저하증과 동반된 Townes-Brocks 증후군은 3례가 보고된 바 있다. 저자들은 한국에서 최초로 갑상선 기능저하증과 동반된 Townes-Brocks 증후군 1례를 보고한다.

• Clinical and Experimental Pediatrics
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• 제55권3호
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• pp.107-110
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• 2012

Partial trisomy 3p results from either unbalanced translocation or $de$ $novo$ duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4)(p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.

• Journal of Chest Surgery
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• 제32권12호
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• pp.1111-1114
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• 1999

Cor triatriatum is a rare congenital heart disease that is often lethal in children if not correctly identified and properly managed, Characteristically an anomalous membrane divides the left atrium into two chambers one located posterosuperiorly which is connected to the common pulmonary venous trunk and the other anteroinferiorly which is connected to the left atrial appendage and the mitral valve. Eight patients with Cor triatriatum were been seen at our hospital from 1984 to 1999. The clinical presentation diagnostic evaluation and surgical results are outlined in this retrospective review. Resection of the obstructing anomalous atrial membrane was performed using a hypothermic cardiopulmonary bypass in all cases. Right atriotomy was performed in all patients and left atriotomy was performed in a patient who had poor preoperative general conditions and serious cardiac defects(TAPVR & hypoplastic left ventricle) died of low cardiac output during the immediate postoperative period. The postoperative course has been excellent in the remaining. Cor triatriatum is amenable to surgical repair with excellent results when diagnosed early and in those who are not complicated by other complex cardiac anomalies.

• Journal of Chest Surgery
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• 제17권3호
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• pp.371-380
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• 1984

Corrected transposition of the great arteries [C-TGA] is one of the rare congenital heart disease in which there is both a discordant atrioventricular relationship and transposition of the great vessels. With this arrangement, systemic venous blood passes through the right atrium into the morphologic left ventricle and out the pulmonary artery. Pulmonary venous blood returns to the left atrium, flows into the morphologic right ventricle and out the aorta. Thus, in the rare case when no additional cardiac anomaly is present, a hemodynamically normal heart exists. But more often they are symptomatic as a result of one or several of the commonly associated defects. This paper describes 13 patients who underwent repair of one or more cardiac anomalies associated with corrected transposition at SN UH, from June 1976 through June 1984. 1.8 were males and 5 females, with ages ranging from 3 years to 27 years. 2. Segmental anatomy was {S,L,L} in 12, or {I,D,D} in 1. 3.Associated anomalies were ventricular septal defect in 10, pulmonary outflow tract obstruction in 6, tricuspid insufficiency in. 4, atrial septal defect in 3, subaortic stenosis in 1, mitral insufficiency in 1, and patent ductus arteriosus in 1. 4.None had complete heart block preoperatively, and 3 developed complete heart block intraoperatively. But one of them recovered sinus rhythm on the postoperative 7th day spontaneously. 5.There were 3 cases of hospital morality. But there was no morality since Dec. 1980. 6.Patients with single ventricle, hypoplastic ventricle or those who had palliative surgery alone are not included in this review.

• Journal of Chest Surgery
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• 제33권8호
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• pp.630-637
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• 2000

Backgroud: There are well-known problems in the management of low weight neonates or infants with congenital heart defects. In the past, because of a perceived high risk of operations using cardiopulmonary bypass(CPB) in these patients, there was a tendency for staged palliation without the use of CPB. However, the recent trend has been toward early reparative surgery using CPB, with acceptable mortality and good long-term survival. Therefore we reviewed our results of the operations in infants weighing less than 3kg and considered the technical aspect of conducting the CPB including myocardial protection. Material and Method: Between Jan. 1995 and Jul. 1998, 28 infants weighing less than 3kg underwent open heart surgery for many cardiac anomalies with a mean body weight of 2.7kg(range; 1.9-3.0kg) and a mean age of 41days(range; 4-110days). Preoperative management in the intensive care unit was needed in 20 infants and preoperative ventilator support therapy in 11. Total correction was performed in 23 infants and the palliative procedure in 5. Total circulatory arrest was needed in 11 infants(39%). Result: There were seven hospital deaths(25%) caused by myocardial failure(n=3), surgical failure(n=2), multiorgan failure(n=1), and sudden death(n=1). The median duration of hospital stay and intensive care unit stay were 13days(range; 6-93days) and 6days(range; 2-77days) respectively. The follow-up was achieved in 21 patients and showed three cases of late mortality(15%) and a one-year survival rate of 62%. No neurologic complications such as clinical seizure and intracranial bleeding were noticed immediately after surgery and during follow-up. Conclusion: The early and late mortality rate of open heart surgery in our infants weighing less than 3 kg stood relatively high, but the improved outcomes are expected by means of the delicate conduct of cardiopulmonary bypass including myocardial protection as well as the adequate perioperative management. Also, the longer follow-up for the neurologic development and complications are needed in infants undergoing circulatory arrest and continuous low flow CPB.

• Child Health Nursing Research
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• 제6권1호
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• pp.32-50
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• 2000

A descriptive exploratory design was used in this study to evaluate the effects of sponge bathing on physiological(heart rate, heart period, vagal tone, oxygen saturation, respiration) and behavioral responses in newly born 40 preterm infants from intensive care unit of S University Hospital in Seoul. Data has been collected from October, 1997 to March, 1999. The infants were between 27-33 weeks gestational age at birth, and were free of congenital defects. The subjects entered the protocol when they were medically stable (determined by initiation of feeding and discontinuation of all respiratory support) but still receiving neonatal intensive care. The infants' physiologic parameters were recorded a 10 - minute before, during, and after bathing. Continuous heart rate data were recorded on a notebook computer from the infant's EKG monitor. The data were digitized off-line on software(developed by Lee and Chang in Wavelet program) which detected the peak of the R wave for each heart beat and quantified sequential R-R intervals in msec(i.e. heart periods). Heart period data were edited to remove movement artifact. Heart period data were quantified as : 1) mean heart period; 2) vagal tone. Vagal tone was quantitfied with a noninvasive measure developed by Porges(1985) in Mxedit software. To determine behavioral status, tools were developed by Scafidi et al(1990) were used. Collected data were analyzed with the SPSS program using paried t-test, ANOVA, and Pearson correlation. The result were as follow. 1. The results of the ANOVAs indicated that vagal tone were signifcantly lower during bathing than baseline and post-bathing. There were significant differences in heart period and heart rate levels across the bathing. But the mean oxygen saturations and respirations were no differences. Also, there were no significant differences on behavioral sign, motor activity, behavioral distress, weight changes, morbidity, and hospitalization period. 2. To evaluate the relation between vagal tone and subsequent parameters, the two groups (the high group had 19 subjects and low group had 21subjects) were divided by the mean baseline vagal tone. Vagal tone measured prior to bathing were significantly associated with respiration before bathing, vagal tone during bathing, and the magnitude of change in both vagal tone. But, other subsequent reactivities were no differences in two groups. 3. Correlations were also calculated between vagal tone and the subsequent physiological reactivities from baseline through after- bathing. Correlations were significant between baseline vagal tone and baseline heart rate, between baseline vagal tone and baseline heart period, between baseline vagal tone and oxygen saturation after bathing. In summary, the bathing in this study showed a stressful stimulus on premature infants through there was significance in the physiological parameters. In addition, our study represents the documentation that vagal tone reactivity in response to clearly defined external stimulation provides an index of infant's status.

• 대한영상의학회지
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• 제81권6호
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• pp.1523-1528
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• 2020

부분 폐정맥 환류 이상은 드문 선천성 폐정맥 기형의 한 종류로 진단 시 종종 간과될 수 있다. 대부분의 경우 비 침습적인 영상검사인 심장 초음파, CT 또는 MRI로 진단을 하게 되는데, 2D 모니터를 이용한 영상진단은 삼차원적으로 복잡한 심장의 구조를 이해하는데 제한이 있다. 최근에는 CT와 MRI에서 얻은 의료 영상 데이터를 기반으로 3D 프린팅 기술을 이용하여 심장의 모형을 만드는 기술이 소개되어 점차 이용이 증가되고 있다. 본 증례 보고에서 저자들은 우측 상 폐정맥과 우측 중 폐정맥이 상대정맥으로의 각각 배출되며 우측 중 폐정맥을 통해 양측 심방 간의 연결이 이루어진 환자의 CT 영상 및 3D 프린팅 모델에 대해 보고하고자 한다.

• Journal of Chest Surgery
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• 제34권11호
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• pp.831-842
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• 2001

배경: 심질환 환자는 심장의 구조적 혹은 기능적 결함으로 인하여 혈역학적 변화가 필연적으로 존재하며 그 결과 신체대사에 심각한 영향을 미치므로 수술전부터 산, 염기의 이상이 초래된다. 수술방법에는 필연적으로 비생리적인 체외순환법과 저체온법 및 혈액희석법과 같은 다양한 특수한 기법이 도입된다. 따라서 수술전 이미 존재하는 산 염기의 이상상태에서 체외순환이라는 수술적 침습에 의해 가해지는 shear압박으로 인하여 이미 악화된 상태의 산 염기 변화를 더욱 심하게 만들게 된다. 저자는 청색증을 포함한 소아심질환 환자와 선천성을 포함한 성인 심질환 환자에서 수술전 체외순환중, 수술후의 산, 염기의 치료지침을 얻기 위하여 본 연구를 시도하게 되었다. 대상 및 방법: 1997년 1월부터 1999년 5월가지 체외순환하에 개심술을 시행한 52례를 연구대상으로 하였다, 연구대상은 소아 및 성인 심질환, 선천성 및 후천성 심질환, 그리고 비청색증과 청색증심장병으로 구분하여 수술전, 수술중의 체외순환중, 그리고 수술후 각각 $\alpha$-stat 동맥혈 가스분석 결과를 분석, 비교하여 다음과 같은 결과를 얻었다. 결과: 수술전 산 염기 상태는 모든 심질환 환자들에서 대상성 대사성 산증이 기본적으로 존재하였다. 또한 성인 심질환과 후천성 심질환 환자군에서 저탄산가스 혈증이 존재하였으며, 청색증 심질환 환자군에서만 유일하게 대상성 호흡성 염기증이 있었다. 체외순환중에는 성인 심질환 환자군에서는 염기증만이 발생하였고 후천성 심질환 환자군에서는 정상상태의 산 염기 상태이었다. 반면에 소아심질환 환자군에서는 저 탄산가스 혈증 및 대상성 대사성 산증과 호흡성 염기증이 함께 공존하였다. 선천성과 비청색증 심질환 환자군에서는 각각 비대상성 호흡성 염기증 경향과 비대상성 호흡성 염기증이 발생하였다. 청색증 심질환 환자군에서는 체외순환중에 오히려 대상성 호흡성 산증과 대사성염기증이 발생하였다. 수술후 성인 심질환 환자군에서는 정상 상태의 산 염기 상태로 회복되었으며, 후천성심질환 환자군에서는 단지 표준 bicarbonate가 증가한 것만이 나타났다. 소아, 선천성, 비청색증 및 청색증 심질환 환자군에서는 모두 공통적으로 buffer base가 부족한 것으로 나타났다.

• Journal of Preventive Medicine and Public Health
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• 제27권2호
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• pp.337-365
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• 1994

Rubella is a viral disease with mild constitutional symptoms and generalized rashes. In childhood, it is an inconsequential illness, but when it occurs during early pregnant period, there are significant risks of heart defects, cataract, mental retardation to the fetus. The series of congenital defects induced by rubella is called 'congenital rubella syndrome'. Many research have been performed to find out more effective prevention program on rubella. The objectives of this study are, first, to calculate the incidence rate of acute rubella infection and congenital rubella syndrome in Korea, second, to evaluate economic efficiency of several rubella vaccination policies and to offer data for the most reasonable decision on vaccination policy. Study populations are 663,312 children of one year-old in 1992. The author has performed cost-benefit analyses according to the three vaccination policies-U.S.A.'s. U.K.'s and Sweden's. In this Study, the author got the incidence rate of acute rubella infection using the catalytic model. In the meantime, the author used 50 per 100,000 live births as the incidence rate of congenital rubella syndrome. The discount rate used in this study was 5 percent per annum. The sensitivity analyses were done with different discount rates (4%, 7%) and different incidence rate of congenital rubella syndrome (10,100 per 100,000 live births) : The study results are as follows: 1. Without vaccination, lifetime expenditures per patient for acute rubella infeciton amount to 14,822 won and the total expenditures to about 3.1 billion won. Meanwhile, lifetime expenditures per patient for congenital rubella syndrome amount to about 91 million won and the total expenditures to about 16.3 billion won without vaccination. 2. The cost of vaccination for a child of one year old was 2,322 won and the total cost for the one year old children was about 1.5 billion won (American style). The cost for vaccination of female children at fifteen was about 339 million won (Birtish style). And the cost of vaccination at one for both sex and female children at fifteen was about 1.9 billion won (Swedish style). 3. The benefit to cost ratios of vaccination of female children at fifteen that is the british mode of rubella vaccination, was 60.0 at the level of 80% population coverage and 48.6 at 100% coverage. It shows much higher benefit to cost ratio than those of the other two vaccination policies. 4. Both net benefits of vaccination at one (American style) and that of vaccinations at one and fifteen (Swedish style) range from about 17.0 billion to 17.8 billion won, those were larger than that of vaccinations of female children at fifteen (Birtish style, about 16.0 billion). 5. In marginal cost-benefit analysis of only additional program of revaccination, the benefit to cost ratios were 3.6 (80% coverage rate) or 0.6 (100% coverage rate). It implies that additional program was less efficient or inefficient. 6. In sensitivity analysis with different discount rates(4% or 7%) and different incidence rates of congenital rubella syndrome (10 or 100 per 100,000 live births), the benefit to cost ratios has fluctuated in wide range. However, all the ratios of vaccination of female children at fifteen were higher than those of the others. Even under the most conservative assumption, the benefit to cost ratios of all the rubella vaccination policies were higher than 3.3. In conclusion, all the rubella vaccination policies found to be cost-effective and particularly the vaccination of female children at fifteen was strongly recommended.

• Clinical and Experimental Pediatrics
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• 제51권8호
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• pp.848-855
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• 2008

목 적 : 서부 경남 지역에서 선천성 심장병 환자의 발생 빈도와 연도별 변화 양상을 조사하고자 한다. 방 법 : 1997년 1월부터 2005년 12월까지 경상대학교 병원에서 심장초음파를 시행하여 선천성 심장병으로 진단 받았던 총 1,185명 중 1997년부터 2004년 사이 출생한 849명(남:여=390:459)을 대상으로 출생 연도별로 발생 빈도를 조사하고, 각 아형으로 분류하여 진단 연령, 연도별 변화 양상을 조사하였다. 또한 2000년부터 2004년까지 서부 경남 지역의 출생자수를 기준으로 조사된 이 지역의 선천성 심장병의 발생 빈도에서 연도별 변화 양상이 있는지 조사하였다. 선천성 심장병의 병형은 비청색증형과 청색증으로 먼저 분류하고, 비청색증형은 다시 단락형과 판막 및 혈관 이상으로 재분류하였다. 결 과 : 1997년부터 2004년까지 8년간 출생한 해를 기준으로 선천성 심장병 환자수는 113명, 128명, 116명, 104명, 129명, 97명, 84명, 78명 이었다. 연도별로 성별과 병형별 발생 빈도의 차이는 없었다. 출생 연도를 기준으로 최초 심장병으로 진단 내려지는 환아들의 평균 연령은 1개월로 동일하게 차이가 없었으나, 청색증형 심장병 환아의 진단받는 연령은 최근 더욱 어려지는 경향을 보였다. 서부 경남 지역의 출생자 수를 알 수 있었던 2000년부터 2004년까지 출생한 대상자수는 총 492명이었다. 이들을 서부 경남 지역의 출생자수를 기준으로 조사된 선천성 심장병의 발생 빈도는 1,000명당 2000년 8.9명, 2001년 12.7명, 2002년 10.9명, 2003년 10.0명, 2004년 9.7명이었다. 결 론 : 1997년부터 2004년까지 8년간 서부 경남지역에서 출생하고 진단받은 선천성 심장병 환자의 발생자 수는 연간 평균 106명이었고, 2002년부터 100명 미만으로 점차 감소하는 경향을 보였다. 그러나 2000년부터 2004년까지 5년간 서부 경남 지역의 출생자수를 기준으로 조사된 선천성 심장병의 선천성 심장병 발생 빈도는 매년 0.89-1.27%로 유사하게 나타나 2002년부터 발생 빈도가 감소한 것은 아님을 알 수 있었다. 이러한 경향은 실제 선천성 심장병 발생 빈도의 변화는 없으나 최근에 뚜렷한 출산율 감소가 새롭게 진단받는 환자 수의 감소에 영향을 미쳤으리라 본다.