• Clinical and Experimental Pediatrics
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• 제58권7호
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• pp.256-262
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• 2015

Purpose: Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. However, the cardiac anomalies are not well described in the Korean population. We analyzed the cardiac anomalies and clinical features of Kabuki syndrome in a single tertiary center. Methods: A retrospective analysis was conducted for a total of 13 patients with Kabuki syndrome. Results: The median age at diagnosis of was 5.9 years (range, 9 days to 11 years and 8 months). All patients showed the characteristic facial dysmorphisms and congenital anomalies in multiple organs, and the diagnosis was delayed by 5.9 years (range, 9 days to 11 years and 5 months) after the first visit. Noncardiac anomalies were found in 84% of patients, and congenital heart diseases were found in 9 patients (69%). All 9 patients exhibited left-side heart anomalies, including hypoplastic left heart syndrome in 3, coarctation of the aorta in 4, aortic valve stenosis in 1, and mitral valve stenosis in 1. None had right-side heart disease or isolated septal defects. Genetic testing in 10 patients revealed 9 novel MLL2 mutations. All 11 patients who were available for follow-up exhibited developmental delays during the median 4 years (range, 9 days to 11 years 11 months) of follow-up. The leading cause of death was hypoplastic left heart syndrome. Conclusion: Pediatric cardiologist should recognize Kabuki syndrome and the high prevalence of left heart anomalies with Kabuki syndrome. Genetic testing can be helpful for early diagnosis and counseling.

• Journal of Veterinary Science
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• 제22권4호
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• pp.52.1-52.8
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• 2021

Background: The normal vertebral anatomy of Korean raccoon dogs and their variants require research attention as a prerequisite for identifying pathologies and anomalies. Objectives: This retrospective study aimed at describing the vertebral formula and congenital vertebral anomalies in Korean raccoon dogs (Nyctereutes procyonoides koreensis). Methods: Radiographs of 82 raccoon dogs (42 males, 40 females) acquired from May 2013 to June 2020 in the Gangwon Wildlife Medical Rescue Center were reviewed to evaluate the cervical, thoracic, and lumbar vertebrae of the spine. Results: Normal morphology of all vertebrae was observed in 50 of the 82 raccoon dogs, and the vertebral formula was cervical 7, thoracic 13, and lumbar 7. Congenital vertebral anomalies were found in 32 raccoon dogs: transitional vertebrae (TV) in 31 and block vertebrae in 2. Two raccoon dogs had 2 types of vertebral anomalies: one had TV and block vertebra, and the other had 2 types of TV. Twenty-nine raccoon dogs had thoracolumbar TV (TTV) and 3 had lumbosacral TV. TTV was morphologically classified into 4 different types: unilateral extra-rib in 5 raccoon dogs, bilateral extra-ribs in 14, bilateral elongated transverse processes in 4, and an asymmetric mixed formation of extra-rib with elongated transverse process in 6. Conclusions: This study showed that TTV is common in Korean raccoon dogs, and that the vertebral formula is relatively diverse. The bilateral extra-ribs type TTV is the most common variant, which is almost similar to normal rib to be confused the radiographic evaluation.

• Advances in pediatric surgery
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• 제16권2호
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• pp.143-153
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• 2010

Congenital diaphragmatic disease is one of the common major congenital anomalies, and its mortality remained still high despite recent medical advances. The aim of this study is to examine the clinical characteristics of congenital diaphragmatic diseases. A total of 39 patients with congenital diaphragmatic disease that underwent surgery from January, 1997 to December, 2009 at Pusan National University Hospital were included in this study. Medical records were retrospectively reviewed. The male to female ratio was 30:9. Six out of 39 cases died (NS) before surgery, 17 patients had Bochdalek's hernia (BH), 11 patients hiatus hernia (HH), 4 diaphragmatic eventration (DE), and 1 Morgagni hernia (MH). There were no differences in mean birth weight and mean gestational age. NS (83.3 %). BH (35.3 %) was diagnosed more frequently than other diseases in the prenatal period. Three patients (17.6 %) of BH expired due to pulmonary hypoplasia and 1 patient had co-existing congenital heart disease. BH was diagnosed more frequently in the prenatal stage and had a higher motality rate than other conditions. Therefore, BH needs to be concentrated more than other anomalies.

• 한국환경보건학회:학술대회논문집
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• 한국환경보건학회 2003년도 Challenges and Achievements in Environmental Health
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• pp.26-26
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• 2003

During the Viet Nam war, A Luoi located in Thua Thien Hue Province was heavily sprayed herbicides by the Ranch Hand Operation of U.S.A force (549.274 gallons). After 30 years of knocking the operation off, Dioxin has still contaminated on environment and human body in A Luoi valley. The results of the study show that there is an epidemiological relationship between AO/Dioxin exposure and increasing rate of reproductive anomalies and birth defects (the rate of reproductive anomalies including congenital deformities after the war during 10-year and 25-year is higher than that before the war from 1.5 to 4 times). The study found that the highest rate of reproductive anomalies is spontaneous abortion. The average is premature death and congenital deformities, and the lowest rate is dead foetus and hydratidiform mole. The results of the primary assessment suggested that Dioxin transport from environment to human body through the food chain exposed by Dioxin such as fish, chicken, duck. A mitigation plan for residual dioxin contamination from Agent Orange Hervicides is requeste indispensable to inhabitants in Aluoi District.

• Journal of Chest Surgery
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• 제21권4호
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• pp.641-648
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• 1988

Between April 9, 1986 and September 2, 1987, 134 patients underwent open heart surgery with hypothermic cardiopulmonary bypass and cold blood cardioplegia. There were 65 patients[48.5%] of acyanotic congenital cardiac anomalies, 19 patients[14.2%] of cyanotic congenital cardiac anomalies, and 50 patients[37.3%] of acquired heart diseases, which included 49 valvular diseases and 1 myxoma. In 84 congenital cardiac anomalies, 44 patients were male and 40 patients were female ranged in age from 2 years to 57 years. In 50 acquired heart diseases, 18 patients were male and 32 patients were female ranged in age from 10 years to 65 years. The common congenital defects operated were VSD in acyanotic cardiac patients, and Tetralogy of Fallot in cyanotic cardiac patients. Among 50 acquired heart diseases, 49 patient underwent operation for cardiac valvular lesions. 33 patients had mitral valve replacement and 7 patients had aortic valve replacement. 1 patient underwent aortic valvuloplasty and 8 patients had double valve replacement. The operative mortality rate was 3.1%[2 out of 65 patients] in acyanotic cardiac patients, 5.3%[1 out of 17 patients] in cyanotic cardiac patients, and 12.0%[6 out of 50 patients] in acquired cardiac patients, with overall mortality rate of 6.7%[9 out of 134 patients].

• Korean Journal of Radiology
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• 제2권3호
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• pp.121-131
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• 2001

Echocardiography and catheterization angiography suffer certain limitations in the evaluation of congenital heart diseases in adults, though these are overcome by MRI, in which a wide field-of view, unlimited multiplanar imaging capability and three-dimensional contrast-enhanced MR angiography techniques are used. In adults, recently introduced fast imaging techniques provide cardiac MR images of sufficient quality and with less artifacts. Ventricular volume, ejection fraction, and vascular flow measurements, including pressure gradients and pulmonary-to-systemic flow ratio, can be calculated or obtained using fast cine MRI, phase-contrast MR flow-velocity mapping, and semiautomatic analysis software. MRI is superior to echocardiography in diagnosing partial anomalous pulmonary venous connection, unroofed coronary sinus, anomalies of the pulmonary arteries, aorta and systemic veins, complex heart diseases, and postsurgical sequelae. Biventricular function is reliably evaluated with cine MRI after repair of tetralogy of Fallot, and Senning's and Mustard's operations. MRI has an important and growing role in the morphologic and functional assessment of congenital heart diseases in adolescents and adults.

• Journal of Chest Surgery
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• 제18권4호
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• pp.700-710
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• 1985

Three hundred and sixty seven cases of open heart surgery were done in the Department of Thoracic and Cardiovascular Surgery, Pusan National University Hospital from July, 1981 to October, 1985. 1. The age distribution of congenital heart disease patients was 3 to 41 years old and mean age was 12.7 years and of acquired heart disease was 9 to 57 years old and mean age was 30.9 years. 2. There were 281 cases [64.9%] of acyanotic congenital heart anomalies, 43 cases [11.7%] of cyanotic anomalies and 86 cases [23.4%] of acquired heart disease. 3. For myocardial protection, Bretschneider and potassium glucose solution had been used as cardioplegic solution but recently GIK solution is being used as secondary cardioplegic method by infusing repeatedly every 30 to 40 minutes time interval with excellent results. 4. The overall mortality was 8.2%. And the mortality rate in each disease entity is 2.5% in congenital acyanotic cases, 32.6% in congenital cyanotic cases and 11.6% in acquired valvular disease.

• Journal of Korean Dental Science
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• 제3권1호
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• pp.17-24
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• 2010

Objective : To investigate the prevalence of dental anomalies and to determine the associations between dental anomalies in permanent teeth Materials and methods : The samples were 1,240 patients (760 females and 480 males, mean age=15.1 years) who visited the Samsung Medical Center. Dental anomalies were diagnosed using pre-treatment dental casts, radiographs, clinical examinations, and medical/dental histories. Prevalence and association were investigated according to gender and sidedness. The Chi-square test was performed for statistical analysis. Results : The most common missing tooth was the lower lateral incisor, followed by the lower and upper second premolars. This particular dental anomaly is characteristic of the East Asian population (prevalence of congenital missing tooth=12.3%). The upper anterior area was the most frequently affected area (prevalence of supernumerary tooth was 1.5%). The presence of a supernumerary tooth was more prevalent in males than in females (p<.05, odds ratio=3.2). The most frequently affected tooth was the upper canine (prevalence of impacted tooth=4.3%). Unilateral impaction of the upper canine occurred significantly more often compared to bilateral impaction (p<.001). The prevalence of peg lateralis was 2.7%. The presence of congenital missing tooth was closely associated with peg lateralis (p<.01). If children aged 7~8 years have peg lateralis, the rest of the teeth should be checked for congenital absences. Conclusion : The early detection of dental anomalies and understanding of their associations help clinicians determine the appropriate treatment timing and methods of dealing with these anomalies.

• Childhood Kidney Diseases
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• 제3권2호
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• pp.180-186
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• 1999

목적 : 요로감염이 있을 경우 방광요관역류를 포함한 선천성 요로계 이상을 25-55%에서 발견할 수 있다. 이 중 방광요관역류는 8-52%이나 이러한 역류성 병변이 일차성 역류인지,선천성 기형과 동반되는 이차성 역류인지 구별하기 어렵고 역류 자체에 의해 기존의 선천성 병변은 무시되기 쉽다. 이에 저자들은 방광요관역류 여부와 관계없이 선천성 요로계 이상이 요로감염과 동반된 경우에 대하여 성별 연령별 빈도, 선천성 요로계 이상의 종류 및 방광요관역류와의 관련성 여부 등에 대해서 알아보고자 본 연구를 실시하였다. 대상 및 방법 : 1996년 3월부터 1998년 2월까지 삼성서울병원에 요로감염증으로 입원치료받은 환아로 신초음파검사 단독 또는 초음파검사 및 배뇨중 요도조영술검사(voiding cystourethrography)를 모두 시행하여 적어도 한 가지 이상의 방사선학적 검사를 시행하였던 65례를 그 대상으로 하였다. 59례에서 초음파검사를 시행하였고 배뇨중 방광요도조영술은 51례에서, $^{99m}Tc-DMSA$ scan은 45례에서 시행하였다. 결과 : 1) 방광요관역류 여부와 관계없이 선천성 요로계 이상이 요로감염과 동반된 경우는 요로감염환아 65례 중 9례(13.8%)로 남아 7명 여아 2명이었다. 2) 연령별 분포를 보면 1세 미만이 1명, 1-2세 5명, 3-5세 1명, 5세 이상 2명이었다. 3) 선천성 요로계 이상의 종류는 각각 양측이소성신, 방광요관이행부폐쇄, 다낭신, 방광신우이행 부협착, 방광신우이행부폐쇄 및 수신증, 후부요도판막, 방광격막, 요막관잔유물, hutch diverticula 등이었다. 4) 역류 이외의 선천성 요로계 이상 9례 중 배뇨중 방광요도조영술은 8례에서 시행되었고 이 중 4례에서 방광요관역류가 발견되었다. 5) 요배양 검사에서는 E. coli가 3례(33.4%)에서 동정되어 가장 많았다. 결론 : 본 연구는 선천성 요로계 이상을 방광요관역류 여부와 관계없이 고찰한 것으로 13.8%에서 관찰되었다. 연구 대상의 예가 적어서 그 결과를 단정짓기는 어려우나, 다른 요로계 기형도 적지않게 동반되는 것으로 관찰되는바 요로감염증과 연관된 역류 이외의 다른 기형의 중요성도 간과되어서는 안될 것으로 사료된다.

• Journal of Yeungnam Medical Science
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• 제40권3호
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• pp.268-275
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• 2023

Background: With the establishment of international guidelines and changes in insurance policies in Korea, the role of targeted ultrasonography has increased. This study aimed to identify the rates and clinical course of anomalies detected using prenatal targeted ultrasonography. Methods: This study was a retrospective analysis of all pregnancies with targeted ultrasonography performed in a single secondary medical center over 5 years. Results: Fetal anomalies were detected by targeted ultrasonography in 137 of the 8,147 cases (1.7%). The rates of anomalies were significantly higher in female fetuses (2.0% vs. 1.3%). In cases of female fetuses, the rate of anomalies was significantly higher in the advanced maternal age group (2.4% vs. 1.2%). In cases of male fetuses, the rate of anomalies was significantly higher in nulliparous (2.4% vs. 1.5%) and twin (5.7% vs. 1.9%) pregnancies. Pulmonary anomalies were significantly more common in the multiparity group (17.6% vs. 5.8%). Among the 137 cases, 17.5% terminated the pregnancy, 16.8% were diagnosed as normal after birth, and 42.3% were diagnosed with anomalies after birth or required follow-up. Conclusion: Through the first study on the rates and clinical course of anomalies detected by targeted ultrasonography at a single secondary center in Korea, we found that artificial abortions were performed at a high rate, even for relatively mild anomalies or anomalies with good prognosis. We suggest the necessity of a nationwide study to establish clinical guidelines based on actual incidences or prognoses.