• Korean Journal of Bronchoesophagology
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• v.3 no.2
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• pp.338-342
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• 1997

Thyroglossal duct cysts are the most common anomaly in thyroid development. Generally, duct cysts are benign, but 1 per cent of cases may be malignant. Tumors of the thyroglossal duct are very rare and are usually papillary thyroid carcinomas. In most cases the diagnosis is only established after excison of a clinically benign thyroglossal duct cysts. The etiology of such tumors is unclear, but do novo origin and spread from a primary thyroid gland tumor has been suggested. We reported a case of papillary carcinoma arising in a thyroglossal duct cyst treated successfully with surgical excision in 37-year-old-female.

• ETRI Journal
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• v.46 no.3
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• pp.526-537
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• 2024

Monitoring fetal growth in utero is crucial to anomaly diagnosis. However, current computer-vision models struggle to accurately assess the key metrics (i.e., head circumference and occipitofrontal and biparietal diameters) from ultrasound images, largely owing to a lack of training data. Mitigation usually entails image augmentation (e.g., flipping, rotating, scaling, and translating). Nevertheless, the accuracy of our task remains insufficient. Hence, we offer a U-Net fetal head measurement tool that leverages a hybrid Dice and binary cross-entropy loss to compute the similarity between actual and predicted segmented regions. Ellipse-fitted two-dimensional ultrasound images acquired from the HC18 dataset are input, and their lower feature layers are reused for efficiency. During regression, a novel region of interest pooling layer extracts elliptical feature maps, and during segmentation, feature pyramids fuse field-layer data with a new scale attention method to reduce noise. Performance is measured by Dice similarity, mean pixel accuracy, and mean intersection-over-union, giving 97.90%, 99.18%, and 97.81% scores, respectively, which match or outperform the best U-Net models.

• Anatomy and Cell Biology
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• v.56 no.4
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• pp.584-587
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• 2023

Polymelia is an extremely rare congenital anomaly where an individual is born with an abnormally developed extra or supernumerary limb which is generally shrunken and functionless. A case of thoracomelia (a type of polymelia) was observed macroscopically and confirmed radiologically in 1.5 years old boy born in Nepal with an abnormal supernumerary upper limb attached to his back in the thoracic region. The limb was successfully amputated, and the boy had a favorable outcome after surgical treatment, without any adverse effects or impairment. Understanding the embryogenesis of thoracomelia is essential for unraveling the complex mechanisms underlying this condition and potentially aiding in early diagnosis and intervention. This case report and review aims to shed light on the intricate processes governing forelimb formation and their perturbations leading to thoracomelia.

• Journal of Yeungnam Medical Science
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• v.15 no.1
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• pp.67-74
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• 1998

Successful management of duodenal obstruction in newborn infant implies not only satisfactory nutrition but also achievement of normal growth. To aid early diagnosis and management, we evaluated the diagnostic methods, operative interventions and clinical characteristics of thirty-nine infants with congenital duodenal obstructions. In the 11-year period from July 1986 through June 1997, thirty-nine patients with congenital duodenal obstruction (23 males and 16 females) were treated and reviewed at the Department of Pediatric Surgery, Yeungnam University Hospital. The ratio of male to female was 1.4:1, and 29 cases(74.1%) among total 39 patients were newborn. There were 5 premature patients and 16 patients of small for gestational age. The most common causes of the congenital duodenal obstruction was malrotation (26 cases, 66.7%) and followed by annular pancreas (9 cases, 23.1 %), type 1 atresia (3 cases, 7.7%) and wind-sock anomaly (1 case, 2.6%). Common symptoms were vomiting, abdominal distention, jaundice. Plain abdominal X-ray study combined with upper gastrointestinal series was the most commonly used diagnostic method. The operative procedures were performed by same pediatric surgeon utilizing Ladd's procedure in 26, duodenoduodenostomy in 8, duodenojejunostomy in 4, excision of wind-sock membrane in 1. A total of 15 associated congenital anomalies were found in 9 patients. Postoperative complications occurred in 13(33.3%). Overall mortality was 2.6%(1/39). Bilious vomiting and plain abdominal radiologic study were most useful for the diagnosis of congenital duodenal obstruction. Early diagnosis and operative intervention were important to prevent complications such as sepsis and peritonitis.

• Journal of Genetic Medicine
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• v.14 no.1
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• pp.43-47
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• 2017

Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects. This genetic disorder is caused by partial duplication of chromosome 22, mostly as a result of a supernumerary isodicentric marker chromosome idic(22)(q11.2). Various congenital abnormalities and extreme phenotypic variability in CES patients have been reported, which have made prenatal diagnosis of CES difficult. We report the first case diagnosed with CES prenatally by multiplex ligation-dependent probe amplification in a woman who was referred to our hospital, for a fetus presenting with heart anomaly.

• Journal of the korean academy of Pediatric Dentistry
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• v.30 no.3
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• pp.510-514
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• 2003

The Axenfeld-Rieger syndrome is a rare autosomal dominant disorder characterized by dental and ocular abnormalities. The essential ocular features include partial or complete bilateral hypoplasia of the iris stroma, abnormalities of the angle structures with congenital iris adhesions, and anterior displacement of Schwalbe's corpuscles. Common oral findings are hypodontia(especially in anterior maxillary segment), microdontia, misshaped teeth, delayed eruption of the teeth. Additionally, other systemic symptoms can be seen and early detection by the pedodontist through dental diagnosis should prevent visual impairment.

• Journal of Chest Surgery
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• v.35 no.12
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• pp.894-897
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• 2002

Anomalous origin of the right coronary artery from the pulmonary artery is a rare congenital anomaly that has generally been found incidentally during autopsy or surgery. Sudden death may occur without antecedent symptoms in apparently healthy, asymptomatic patients and hence operation is recommended when the lesion is recognized. As opposed to the more frequent anomalous origin of the left coronary artery from the pulmonary artery, only a few children with this anomaly have been reported to have undergone surgical treatment. This report describes a 2-year old patient whose diagnosis was made by echocardiography, confirmed by angiocardiography, and successfully corrected by reimplantation of the anomalous coronary artery into the aorta.

• Journal of Chest Surgery
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• v.18 no.3
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• pp.371-382
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• 1985

Over the past 4 decades after World War II a great deal of data and clinical experiences have been accumulated relating to the diagnosis and surgical treatment of congenital and acquired cardiovascular diseases in Korea. Clinical data on cardiovascular surgical cases performed in all 22 hospitals for open heart surgery in Korea was collected from it`s starting up to December 1984. The first recorded open heart surgery for a young adult atrial septal defect was performed by Young Kyoon Lee, M.D. on August 7, 1959, Seoul National University Hospital, Korea. And, some scattered reports on cardiovascular surgical cases in it`s early period have changed recently the number of hospitals for open heart surgery and clinical cases enormously in total amount of 13, 100 cardiovascular operations performed on 12, 990 cases up to December 1984. Of the total 13, 100 cardiovascular operations, congenital cardiovascular anomaly occupied 70%. Of the congenital cases, 6, 580 operations for acyanotic group [operative mortality 4.5%], and 2, 489 operations for cyanotic group [operative mortality 20%]. The incidence of congenital cardiovascular anomaly in order of frequency was ventricular septal defect [29%], patent ductus arteriosus [26%], Tetralogy of Fallot [22%], atrial septal defect [8, 6%], pulmonary valve stenosis [3.0%], and endocardial cushion defect [1.1%]. Of the 3, 412 valvular heart disease cases, which occupied 85% of total 4, 031 acquired cardiovascular disease, individual incidence was in mitral 2, 565 [63.5%], double valve 451 [11.1%], and simple aortic valve 351 [8.7%]. Total number of valve replaced, mechanical and tissue, was 2, 795, and 1, 884 for mitral, 808 for aortic, and 103 for tricuspid in position. Operative mortality for prosthetic valve replacement in total was 9.8%. Remained acquired cardiovascular cases chronic constrictive pericarditis [7.9%], cardiac tumor [1.9%], coronary artery bypass [1.8%], cardiac trauma [1.2%] and less than 1% of thoracic aortic aneurysm. Overall operative mortality for open and non-open cardiovascular surgical operation was 7.7% [congenital acyanotic group 3.2%, congenital cyanotic group 19.4%, and acquired group 7.8%]. In conclusion, present status of cardiovascular surgery in Korea is stabilized with accumulation of clinical cases and experiences, and the future in the field of cardiovascular surgery is promising, especially in the infant cardiac surgery and aortocoronary bypass surgery, with abrupt increase of specialized cardiac centers, trained specialists, and expanding social health insurance.

• Advances in pediatric surgery
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• v.3 no.2
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• pp.117-125
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• 1997

Seventy neonates with congenital intestinal atresia and stenosis who were treated at pediatric surgical service. Hanyang University Hospital from September 1979 to December 1996 were analyzed retrospectively. The lesion occurred in 27 cases at the duodenum, in 26 cases at the jeiunum, in 13 cases at the ileum and in 2 cases at the pylorus and colon each. There were 10 multiple atresias and 7 apple-peel anomaly cases. The atresia predominated over the stenosis by the ratio of 4 : 1. Male to female ratio was 1.3 : 1. The average gestational age was 38 weeks, and the average birth weight was 2,754 grams. Though 22.9 % were borne prematurely and 34.3 % had low birth weight, 92.3 % of them had a weight appropriate for gestational age. Polyhydramnios(40 %) was more frequently observed in duodenal and jeiunal atresia while microcolon in ileal atresia(58.3 %). Weight loss and electrolyte imbalance occurred more frequently in the duodenal stenosis cases because of delayed diagnosis. Twenty(55.6 %) of 37 jeiunoileal atresia cases had evidence of intrauterine vascular accident : 4 intrauterine intussusception, 3 intrauterine volvulus and 3 strangulated intestine in gastroschisis, and 10 cases of intrauterine peritonitis. There were one or more associated anomalies in 45 patients (64.3 %). Preoperatively proximal loop volvulus developed in 3 cases and proximal loop perforation in 5 cases and one case each of distal loop perforation, duodenal perforation and midgut volvulus occurred in the jeiunoileal atresia. Overall mortality rate was 20 %.

• Journal of the korean academy of Pediatric Dentistry
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• v.44 no.3
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• pp.370-377
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• 2017

Molar-incisor malformation (MIM) is a recently described dental anomaly characterized by root malformation in permanent first molars accompanied sometimes by abnormal root forms in primary second molars or enamel defects in maxillary central incisors. This report presents three cases of MIM along with a review of previous studies. Three patients exhibited abnormal root forms in the permanent first molars, with varying degrees of deformation. Two of the patients experienced medical events at birth. One of the patients was a monozygotic twin, whose twin sister exhibited normal dentition without any significant abnormalities. The present report also reviews recently reported cases of MIM in literature. In the management of MIM-associated clinical issues, consideration of microscopic features and accompanying characteristics might facilitate early diagnosis and comprehensive treatment planning.