• Journal of Chest Surgery
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• v.17 no.3
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• pp.389-397
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• 1984

Sixty cases of open heart surgery were performed in the Department of Thoracic and Cardiovascular Surgery of Chonbuk National University Hospital from July, 1983 to June, 1984. The patients were consisted of 40 [66%] congenital anomalies containing 26 [43%] patients of acyanotic group and 4 [23%] of cyanotic group, and 20 [34%] acquired heart diseases which involved one or more cardiac valves. The male patients were 42 and the female 18. In 20 valvular heart diseases, open mitral commissurotomy was done in 5 patients, mitral valvular replacement with tissue valve in 6, mitral valvular replacement with mechanical valve in 5, mitral valvular replacement with tricuspid annuloplasty in 2, mitral annuloplasty in 1, and mitral and aortic valvular replacements with mechanical valves in 1. The most frequency complication was low cardiac output syndrome occurred in 9, and the next was urethral stenosis, ARDS, and postoperative bleeding, etc. The perioperative mortality was 21% in congenital cyanotic heart disease, 12% in congenital acyanotic heart disease, and 5% in acquired heart disease.

• Clinical and Experimental Pediatrics
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• v.53 no.6
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• pp.718-721
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• 2010

Rubinstein-Taybi syndrome (RTS) is a congenital disorder characterized by typical facial features, broad thumbs and toes, with mental retardation. Additionally, tumors, keloids and various congenital anomalies including congenital heart defects have been reported in RTS patients. In about 50% of the patients, mutations in the $CREB$ $binding$ $protein$ ($CREBBP$) have been found, which are understood to be associated with cell growth and proliferation. Here, we describe a typical RTS patient with Arnold-Chiari malformation. A mutation in the CREBBP gene, c.4944_4945insC, was identified by mutational analysis.

• Journal of Veterinary Clinics
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• v.20 no.3
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• pp.423-426
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• 2003

Congenital anomalies occur at low levels in Korean antive cattle. PCR and Serum neutrlizing test against BVD, Akabane virus, Ibaraki virus, Kasba virus were examined. The results were all negative. Gross anatomical analysis was carried aout. Congenital abnormal newborn calf had 2 atropic left hindlimbs, which was nor moved autonomosly. The length of 2 atropic hindlimbs was 72 em and 48cm respectively. Both of them were curved severely at joints. Affected limbs were developed in connective tissue but lack of muscular tissue. In the abdominal region right kidney was normal. But there were two left kidneys which was half size compared with normal kidney. One of them had polycysts. In skeletal region, affected left limb is defective of head of femur and tibia.

• Journal of the korean academy of Pediatric Dentistry
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• v.7 no.1
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• pp.85-93
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• 1980

This study was undertaken in order to observe the prevalence of congenital dental anomalies especially that of oligodontia and supernumerary teeth in 1024 children at age from 4 to 14 years, through history taking, oral examinations, roentgenographic observations of subjects, and statistic analysis was made. The following results were obtained: 1. The prevalence of oligodontia in 1024 children was $6.45{\pm}.8$ percent with a total of 122 teeth absent in sixty-six subjects, excluding 3rd molars, and most of children (86.4%) who have congenitally missing teeth showed abscence of one or two teeth individually. 2. The teeth most frequently absent were the mandibular second premolar, maxillary second premolar, maxillary lateral incisor, mandibular central incisor, and mandibular lateral incisor in order. 3. There was no statistically significant difference found in tooth abscence in the following comparisons; .Male vs Female .Bilateral vs Unilateral .Maxilla vs Mandible .Right vs Left 4. The prevalence of supernumerary teeth in 1024 children was $4.79{\pm}.67$ percent with a total of 59 supernumerary teeth in forty-nine subjects, all of children who have supernumerary teeth showed one or two supernumerary teeth individually. 5. Statistically significant difference was found in supernumerary teeth in the comparison of male vs female, and they were more frequent in male.

• Clinical and Experimental Pediatrics
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• v.58 no.9
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• pp.317-324
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• 2015

Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. Whole exome sequencing has uncovered the genetic basis of KS. Prior to 2013, there was no molecular genetic information about KS in Korean patients. More recently, direct Sanger sequencing and exome sequencing revealed KMT2D variants in 11 Korean patients and a KDM6A variant in one Korean patient. The high detection rate of KMT2D and KDM6A mutations (92.3%) is expected owing to the strict criteria used to establish a clinical diagnosis. Increased awareness and understanding of KS among clinicians is important for diagnosis and management of KS and for primary care of KS patients. Because mutation detection rates rely on the accuracy of the clinical diagnosis and the inclusion or exclusion of atypical cases, recognition of KS will facilitate the identification of novel mutations. A brief review of KS is provided, highlighting the clinical and genetic characteristics of patients with KS.

• Journal of Chest Surgery
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• v.26 no.1
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• pp.36-43
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• 1993

Sixty four children [aged 2 days to 9 years] , 58 with complete transposition of the great arteries, 5 with Taussig-Bing double outlet right ventricle, and 1 with double outlet left ventricle plus left ventricular type single ventricle, have undergone anatomic correction from November 1987 to August 1992. Eleven underwent previous operations: pulmonary artery banding[7], modified Blalock-Taussig shunt[2], coarctoplasty[2], aortic arch reconstruction[1] . Of 58 patients with TGA, Type A coronary arteries of Yacoub were seen in 50[86%]. U-shaped coroanry arterial flaps were transfered to the neoaorta using trap door technique, and neopulmonary arterial tract was constructed using glutaraldehyde fixed autopericardium with Lecompte maneuver. There were 18 hospital deaths [28.1%] with no late mortality. Mean follow-up of 20.4\ulcorner11.9 months were achieved in all survivors. Postoperative cardiac catheterizations were done in 14 cases. Mean pressure gradients of pulmonary and aortic outflow tract were 15.0 $\pm$2.6 and 4.2$\pm$1.4mmHg, mild aortic valve insufficiencies were found in 2, and mean cardiac index was 5.18$\pm$0.19 L/min/M2. We conclude that we should continue anatomic correction for the complex congenital heart anomalies with the malposition of the great arteries because myocardial function seems to be well preserved, though we are still on the learning curve.

• Korean Journal of Cleft Lip And Palate
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• v.8 no.2
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• pp.81-86
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• 2005

Cleft palate patients with congenital anomalies have an increased risk of airway problems following palatoplasty. Factors that were related included presence of associated congenital anomalies, duration of surgery, age at time of surgery, history of previous airway problem, and excessive pressure exerted on the base of the tongue by Dingman retractor. This report described a complication of post-operative Pneumonia after palatoplasty (Furlow technique), which resulted in a life-threatening acute airway obstruction in an infant with cleft palate. Patient has a history of previous mild airway problems. In addition to this problem, we speculate that Furlow technique involves more extensive surgical dissection than other techniques may increase risk for upper airway obstruction. Awareness of this risk permits identifying those patients prior to surgery so that they can be monitored and managed properly, minimizing the likelihood of major complications or possibility of death.

• Journal of Chest Surgery
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• v.18 no.4
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• pp.605-614
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• 1985

The principal aim of surgery for congenital heart anomalies is the establishment of normal hemodynamic function. Palliative and corrective operations are selected with time to attain this end with minimal risk. In recent years, as operative mortality after primary total correction is lower than the mortality after early palliation and delayed correction, corrective operations in infants have increasingly supplanted palliative ones. Two hundred and eighteen infants below 10 kg with congenital heart anomalies underwent primary surgical intervention at Yonsei Medical Center from March 1979 to June 1985. There were 155 infants with VSD, 35 Infants with TOF, 5 infants with ECD, 4 infants with TGV, 3 infants with DORV, 3 infants with Pulmonary atresia, 3 infants with ASD and PDA, 2 infants with DOLV, and the remainders were Sinus Valsalva rupture, residual mitral regurgitation after total correction of ECD, PAPVR, Cor triatriatum, Truncus arteriosus, and Tricuspid atresia. The overall surgical mortality was 15.1%. In the acyanotic group, 13 infants died among 168 infants, and mortality was 7.7%. But in the cyanotic group, the mortality rate was very high and 20 infants died among 50 infants raising the mortality to 40.0%. These poor surgical results in the cyanotic or complicated group was due to inaccurate diagnosis, improper surgical methods and inadequate post-operative care which should be improved.

• Journal of Yeungnam Medical Science
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• v.38 no.3
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• pp.240-244
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• 2021

Imperforate anus is an anomaly caused by a defect in the development of the hindgut during early pregnancy. It is a relatively common congenital malformation and is more common in males. Although there are cases of a solitary imperforate anus, the condition is more commonly found as a part of a wider spectrum of other congenital anomalies. Although urgent reconstructive anorectal surgery is not necessary, immediate evaluation is important and urgent decompressive surgery may be required. Moreover, as there are often other anomalies that can affect management, prenatal diagnosis can help in optimizing perinatal care and prepare parents through prenatal counseling. In the past, imperforate anus was diagnosed by prenatal ultrasonography based on indirect signs such as bowel dilatation or intraluminal calcified meconium. Currently, it is diagnosed by directly checking the perineum with prenatal ultrasonography. Despite advances in ultrasound technology, accurate prenatal diagnosis is impossible in most cases and imperforate anus is detected after birth. Here, we present two cases of imperforate anus in female fetuses that were not diagnosed prenatally.

• Anatomy and Cell Biology
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• v.56 no.4
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• pp.421-427
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• 2023

Bladder exstrophy is a rare congenital condition of the pelvis, bladder, and lower abdomen that opens the bladder against the abdominal wall, produces aberrant growth, short penis, upward curvature during erection, wide penis, and undescended testes. Exstrophy affects 1/30,000 newborns. The bladder opens against the abdominal wall in bladder exstrophy, a rare genitourinary condition. This study is vital to provide appropriate therapy choices as a basis to improve patient outcomes. This study may explain bladder exstrophy and provide treatment. Epispadias, secretory placenta, cloacal exstrophy, and other embryonic abnormalities comprise the exstrophy-spades complex. The mesenchymal layer does not migrate from the ectoderm and endoderm layers in the first trimester, affecting the cloacal membrane. Embryological problems define the exstrophy-aspidistra complex, which resembles epimedium, classic bladder, cloacal exstrophy, and other diseases. Urogenital ventral body wall anomalies expose the bladder mucosa, causing bladder exstrophy. Genetic mutations in the Hedgehog cascade pathway, Wnt signal, FGF, BMP4, Alx4, Gli3, and ISL1 cause ventral body wall closure and urinary bladder failure. External factors such as high maternal age, smoking moms, and high maternal body mass index have also been associated to bladder exstrophy. Valproic acid increases bladder exstrophy risk; chemicals and pollutants during pregnancy may increase bladder exstrophy risk. Bladder exstrophy has no identified cause despite these risk factors. Exstrophy reconstruction seals the bladder, improves bowel function, reconstructs the vaginal region, and restores urination.