• 대한소아치과학회지
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• 제28권1호
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• pp.180-184
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• 2001

쇄골두개 이형성증(Cleidocranial Dysplasia)은 autosomal dominant skeletal dysplasia로 쇄골의 부재 두개골 봉합지연 및 치아이상의 특징을 갖는 질환이다. 치아이상 중에 유치열 발달은 정상인데 반해 영구치 맹출 실패가 가장 특징적인 소견이며 다수의 과잉치의 존재, 치아형태이상과 치근형태이상 등이 존재한다. 영구치의 지연 혹은 맹출 부전의 원인으로 (1) 다수의 과잉치 존재, (2) cellular cementum이 없는 기형적 치근형태, (3) 악골의 높은 골밀도, (4) 유치와 골의 비정상적 흡수를 들 수 있으며 저하된 골대사가주원인이며 두번째로 다수의 과잉치의 존재를 들 수 있다. 이의 치료방법은 더 많은 치아 맹출의 환경조성을 위한 교정치료, 외과적 처치 및 보철적 수복이 필요하다. 본 증례는 쇄골두개 이형성증으로 진단받은 7세 10개월 여 환아로 영구치 미맹출을 주소로 본원에 내원하였다. 임상구강 검사에서 유치의 만기잔존, 악궁의 협착, 전치부 반대교합과 다수의 치아우식증이 관찰되었으며 악골의 방사선사진에서 유치의 만기잔존 및 상하악에 다수의 과잉치가 관찰되었고 두부방사선사진에서 미폐쇄된 봉합과 봉간골(wormian bone)이 관찰되었으며 흥부방사선사진에서 쇄골의 부재가 보였다. 이 환아의 성장에 따른 치열 발달을 이해하고 시기에 따른 적절한 치과적 처치에 대해서 본 증례에서 보고하는 바이다.

• 대한치과교정학회지
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• 제50권6호
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• pp.383-390
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• 2020

Objective: To investigate the distribution, side involvement, phenotype, and associated anomalies of Korean patients with craniofacial clefts (CFC). Methods: The samples consisted of 38 CFC patients, who were treated at Seoul National University Dental Hospital during 1998-2018. The Tessier cleft type, sex, side involvement, phenotype, and associated anomalies were investigated using non-parametric statistical analysis. Results: The three most common types were #7 cleft, followed by #0 cleft and #14 cleft. There was no difference between the frequency of male and female. Patients with #0 cleft exhibited nasal deformity, bony defect, and missing teeth in the premaxilla, midline cleft lip, and eye problems. A patient with #3 cleft (unilateral type) exhibited bilateral cleft lip and alveolus. All patients with #4 cleft were the bilateral type, including a combination of #3 and #4 clefts, and had multiple missing teeth. A patient with #5 cleft (unilateral type) had a posterior openbite. In patients with #7 cleft, the unilateral type was more prevalent than the bilateral type (87.0% vs. 13.0%, p < 0.001). Sixteen patients showed hemifacial microsomia (HFM), Goldenhar syndrome, and unilateral cleft lip and palate (UCLP). There was a significant match in the side involvement of #7 cleft and HFM (87.5%, p < 0.01). Patients with #14 cleft had plagiocephaly, UCLP, or hyperterorbitism. A patient with #30 cleft exhibited tongue tie and missing tooth. Conclusions: Due to the diverse associated craniofacial anomalies in patients with CFC, a multidisciplinary approach involving a well-experienced cooperative team is mandatory for these patients.

• 대한수의학회지
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• 제51권1호
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• pp.63-67
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• 2011

Supernumerary ectopic limb(s) (SEL) is a congenital anomaly defined as the presence of accessory limb(s) attached to various body regions. This paper describes a case of SEL with ectopic lung and ectopia cordis in a newborn calf, based on macroscopic, microscopic and radiographic findings. External features of multiple congenital anomalies included an ectopic lung growing over the middle of the backbone and covered with normal haired skin. Ectopia cordis was found in the abdominal cavity and attached to the liver. Two extra abnormal limbs originated separately from within the ectopic lung. Most of the abdominal organs were exposed to the outside through the opened abdominal cavity. Microscopically the ectopic lung tissue had edema in the connective tissue around the bronchus and artery. Changes in other organs included congestion of the renal medulla, infiltration of inflammatory cells (lymphocytes and eosinophils) around the hepatic portal tract, and edema surrounding blood vessels and neurons in the brain. The rudimentary humerus of the forelimb was attached to the thoracic spine, as viewed radiographically. The hindlimb was consisted of an irregularly shaped femur, short tibia and fibula, two tarsal bones, one metatarsal bone, and three phalanges. This is the first description of congenital anomalies involving the SEL, ectopic lung and ectopia cordis in a calf.

• 한국임상수의학회지
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• 제35권3호
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• pp.114-118
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• 2018

A 3-month-old intact male Lakeland terrier was presented with recurring regurgitation after removing cervical esophageal foreign body by endoscopy. Blood and urine analysis, radiography, ultrasonography, fluoroscopic esophagography, computed tomographic angiography (CTA) were performed. In radiography and fluoroscopic esophagography, vascular ring anomaly was considered as the primary cause of megaesophagus, and CTA with gas-inflation of the esophagus was performed. Compressed esophagus, persistent right aortic arch (PRAA), aberrant left subclavian artery (LSA), and a venous structure which was confirmed in surgery to be incomplete type persistent left cranial vena cava (PLCVC) connected with the left side azygos vein were observed. Left deviation of the trachea was also revealed in CT, which implies the compression by left ligamentum arteriosum. Therefore, type 3 PRAA with left ligamentum arteriosum and aberrant LSA, was considered as a prior differential diagnosis. Surgical repair was performed and the clinical signs improved. This report describes CTA characteristics of combination of PRAA with aberrant LSA, incomplete PLCVC and Lt. azygos vein in a dog. Although not every vascular anomaly does induce clinical sign, some types can complicate the surgical procedure, and cause clinical signs. Therefore, thorough evaluation of vascular anomalies in the thorax is important, and CTA is a useful method in identifying multiple vascular anomalies in dogs.

• Journal of Genetic Medicine
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• 제16권2호
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• pp.71-75
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• 2019

Periventricular nodular heterotopia (PNH) is a malformation of cortical development in which normal neurons inappropriately cluster in periventricular areas. Patients with Mowat-Wilson syndrome (MWS) typically present with facial gestalt, complex neurologic problems (e.g., severe developmental delay with marked speech impairment and epilepsy), and multiple anomalies (e.g., Hirschsprung disease, urogenital anomalies, congenital heart defects, eye anomalies, and agenesis of the corpus callosum [CC]). MWS is mostly caused by haploinsufficiency of the gene encoding zinc-finger E-box-binding homeobox 2 (ZEB2) due to premature stops or large deletions. We present a case report of a 9-year-old girl with PNH, drug-responsive epilepsy, severe intellectual disability, and facial dysmorphisms only in whom we performed whole-exome sequencing and found a de novo heterozygous missense mutation (c.3134A>C; p.His1045Pro) of ZEB2 (NM_014795.3; NP_055610.1). This mild case of MWS caused by a rare novel missense mutation of ZEB2 represents the first report of MWS with isolated PNH.

• 천문학회보
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• 제41권1호
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• pp.45.2-45.2
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• 2016

In this study we investigate 195 spacecraft anomalies from 1998 to 2010 from Satellite News Digest (SND). We classify these data according to types of anomaly : Control, Power, Telemetry etc. We examine the association between these anomaly data and daily peak particle (electron and proton) flux data from GOES as well as their occurrence rates. To determine the association, we use two criteria that electron criterion is >10,000 pfu and proton criterion is >100 pfu. Main results from this study are as flows. First, the number of days satisfying the criteria for electron flux has a peak near a week before the anomaly day and decreases from the peak day to the anomaly day, while that for proton flux has a peak near the anomaly day. Second, we found a similar pattern for the mean daily peak particle (electron and proton) flux as a function of day before the anomaly day. Third, an examination of multiple spacecraft anomaly events, which are likely to occur by severe space weather effects, shows that anomalies mostly occur either when electron fluxes are in the declining stage, or when daily proton peak fluxes are strongly enhanced. This result is very consistent with the above statistical studies. Our results will be discussed in view of the origins of spacecraft anomaly.

• Smart Structures and Systems
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• 제29권1호
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• pp.63-75
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• 2022

The raw data collected by structural health monitoring (SHM) systems may suffer multiple patterns of anomalies, which pose a significant barrier for an automatic and accurate structural condition assessment. Therefore, the detection and classification of these anomalies is an essential pre-processing step for SHM systems. However, the heterogeneous data patterns, scarce anomalous samples and severe class imbalance make data anomaly detection difficult. In this regard, this study proposes a convolutional neural network-based data anomaly detection method. The time and frequency domains data are transferred as images and used as the input of the neural network for training. ResNet18 is adopted as the feature extractor to avoid training with massive labelled data. In addition, the focal loss function is adopted to soften the class imbalance-induced classification bias. The effectiveness of the proposed method is validated using acceleration data collected in a long-span cable-stayed bridge. The proposed approach detects and classifies data anomalies with high accuracy.

• Clinical and Experimental Pediatrics
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• 제57권6호
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• pp.292-296
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• 2014

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac or genital anomalies, moderate to severe mental retardation, and growth retardation. Using fluorescent in situ hybridization (FISH) analysis to map precisely the deletion, we present a case of chromosome 1q44 deletion with craniofacial characteristics, multiple congenital anomalies, and growth and psychomotor retardation. In comparison with other reported cases of 1q43-44 deletion, the subject does not show hydrocephalus, seizure, syn- or polydactyly of hands, and a urogenital anomaly. However, an arachnoid cyst, pinpoint dimple on the midline of the forehead, a right-sided supernumerary nipple and auricular pit, polydactyly of the right foot, adducted thumb, and flexion restriction of the proximal interphalangeal joint with a simian line in both hands were observed additionally.

• Journal of Chest Surgery
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• 제18권1호
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• pp.62-68
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• 1985

10 patients with mitral regurgitation associated with various congenital cardiac anomalies were treated by reconstructive techniques in the Department of Thoracic and Cardiovascular Surgery, Hanyang University Hospital during the period of 2 years from 1982 to 1984. There were mitral valvular cleft in one case, chordae tendineae rupture associated with congenital multiple cardiac-anomalies [VSD, PDA, prolapse of aortic non-coronary cusp through VSD] in one case, elongated chordae tendineae after removal of left atrial myxoma in one case, and mitral annular dilatation associated with VSD in 3 cases, large PDA in 2 cases, aortic regurgitation [bicuspid valve] in one case, and unknown origin in one case. Owing to the various pathology above mentioned, reconstructive surgical approach to mitral incompetence is accordingly complicated and a combination of the following different procedures were properly used case by case, that is, suture of chordae tendineae, shortening of elongated chordae tendineae, closure of VSD, ligation of PDA, aortic valvuloplasty, mitral annuloplasty with mattress suture, etc. All patients were survived and they have been excellent postoperative results.

• Clinical and Experimental Pediatrics
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• 제46권8호
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• pp.831-835
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• 2003

저자들은 특징적인 안면 기형과 발열이 있는 semilobar type의 holoprosencephaly 환아에서 국내에서는 보고된 바 없는 염색체 검사상 21번 염색체 단체성이 동반된 holoprosencephaly 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.