• Title/Summary/Keyword: 선천성 기형

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Syngnathia: Review of literature and a case report (선천성 악골유합증)

  • Lee Jong-Ho;Kim Yong-Hun;Seo Byoung-Moo;Choi Jin-Young;Choung Pill-Hoon;Kim Myung-Jin
    • Korean Journal of Cleft Lip And Palate
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    • v.4 no.1
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    • pp.45-53
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    • 2001
  • Congenital craniofacial disorders represent approximately 20% of all birth defects, One of these disorders is syngnathia, Congenital fusion of the maxilla and mandible is rare and can present in a wide range of severity from single mucosal band(synechiae) to complete bony fusion(syngnathia), Syngnathia, congenital bony fusion of the mandible and maxilla, is even less common than synechiae, with only 25 cases reported in the literature, Most of them have presented as an incomplete, unilateral fusion, We report a case of unilateral bony fusion of the maxilla, mandible, and zygomatic arch, Details of operative management and follow-up data are presented with review of literature.

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Corrective Surgery of Congenital Cardiac Anomalies in the Noonan syndrome - Report of two cases - (Noonan 증후군에 동반된 심기형의 수술적 교정 - 2례 보고 -)

  • 이선희;이주현;심성보;박재길;곽문섭;김세화;오용석;윤호중;정욱성
    • Journal of Chest Surgery
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    • v.34 no.7
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    • pp.552-555
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    • 2001
  • Noonan syndrome is characterized by a Turner-like phenotype and a normal karyotype associated with congenital abnormalities, such as short stature, variable mental retardation, hypertelorism, webbed neck, low posterior hair line, skeletal malformation and congenital cardiovascular defect. Two third of Noonan syndrome have cardiac anormalies, half with pulmonary stenosis. We have experienced two cases of pulmonary stenosis associated with other cardiac anomalies in Noonan syndrome. The first 31-year-old male patient had characteristic appearance of Noonan syndrome with severe infundibular pulmonic stenosis and patent foramen ovate. The second 28-year-old male patient had valvular and subvalvular Pulmonary stenosis with typical Noonan\`s face and stature. Pulmonary valvotomy and hypertrophied muscle bundles in the right ventricular cavity were resected in both cases. Patent foramen ovate was closed directly in the first case. Postoperative follow-up examinations revealed no symptoms and successful outcome.

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3세대에 걸친 60Hz 전자파 노출이 마우스에 미치는 영향

  • 김윤원;이진상;장인애;최영희;강성하;정경천;김윤명;조민기
    • The Magazine of the IEIE
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    • v.28 no.2
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    • pp.90-104
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    • 2001
  • 최근까지 동물 또는 사람이 극저주파 전자기장에 평생 또는 여러 세대에 걸쳐 노출되었을 경우, 나타나는 생체영향에 관한 연구는 거의 없다. 본 연구에서는 마우스에 60Hz 전자파를 1세대부터 3세대까지 지속적으로 노출시켜 나타나는 영향을 실험하였다. 실험동물은 5주령인 BALB/c 마우스를 1주일간 적응시킨 후 사용하였다. 실험군은 5kV/m, 30kV/m, 0.5mT 그리고 1.5mT의 4개군으로 나누었으며, 대조군은 1군으로 실험하였다. 생후 6주부터는 위에서 정해진 양의 전자파를 20-22주간 지속적으로 실험동물에 조사하고 동일조건의 암수 마우스를 교미시켰으며, 임신 후에도 사망 또는 부검시까지 동일한 조건으로 계속 조사하였다. 2세대와 3세대는 임신적부터 사망 또는 부검시까지 동일한 조건으로 계속 조사하였다. 1, 2 그리고 3세대 마우스들은 질병에 의한 사망 직전 또는 생후 46주, 66주 그리고 생후 49주에 부검한 뒤, 혈액학적 및 생화학적 검사 그리고 조직병리학적 검사를 실시하였다. 2세대 태아에서는 조기사망(early fetal death), 성장기사망(late fetal death) 그리고 뇌노출(excencephaly) 및 선천성 심장기형을 포함하는 선천이상이 발견되었는데, 이는 대조군에 비해 2-4배 높았다. 1, 2세대에서는 생식기인 고환(testis)과 난소(ovary)의 무게가 감소하였으나 2세대에서는 아무런 변화를 보이지 않았다. 실험군인 30kV/m, 0.5mT 그리고 1.5mT 전 실험군인 30kV/m, 0.5mT 그리고 1.5mT 전자파에 노출된 1세대와 2세대 마우스에서는 프종(lymphoma), 선암종(adenocarcinoma), 기저상피세포증(basal cell epithelioma), 편평상 피두유종(squamous papilloma) 그리고 선종(adenoma) 등이 발견되었으나, 3세대에서는 발견되지 않았다. 60Hz 전자파는 태아 및 생식기에 영향을 미치고, 또한 종양을 유발할 가능성이 있다. 그러나 3세대는 전자파 환경에 점차 적응을 하는 것으로 보인다. 그러나 몇몇 국제기구에서 정하여 놓은 안전한계치의 전자파가 생체에 장기간 노출되었을 경우에 나타날 수 있는 생체영향을 확인하기 위해서는 많은 연구가 필요하다.

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Clinical Outcome of Multicystic Dysplastic Kidney in 46 Children (다낭성 이형성 신 환아 46명의 예후와 관련한 임상적 고찰)

  • Jeong Il-Cheon;Hwang You-Sik;Ahn Sun-Young;Han Sang-Won;Lee Jae-Seung
    • Childhood Kidney Diseases
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    • v.10 no.1
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    • pp.27-32
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    • 2006
  • Purpose : Conservative management of multicystic dysplastic kidney(MCDK) without nephrectomy has recently been advocated. The purpose of this study was to determine the clinical course of conservatively managed MCDK and to find out possible predictive factors for involution of MCDK by ultrasonography(US). Methods : A retrospective analysis was made on 45 patients(26 boys and 20 girls) in whom MCDK was detected and had been traced by US between Dec. 1993 and Aug. 2005 at Severance Hospital. Results : Median follow-up time was 30 months(range 2-102 months). All patients under-went radionuclide scans and voiding eystourethrograms. The serial follow-up US showed complete involution in 11(24%), partial involution in 19(41%), and no interval change or increased in cyst size in 13(28%) patients. Nephrectomy was done in 3 patients(7%) due to relapsing urinary tract infection(UTI) and severe abdominal distension. The mean age of complete involution of MCDK was 37 months(range 12-84 months). Episodes of UTI were present in 17 patients(37%) and additional genitourinary(GU) abnormalities were found in 22 patients(44%). Hypertension and renal insufficiency was complicated in one patient. No child developed malignant tumor. Univariate analysis showed that five variables were associated with complete involution of the MCDK; gender, site, UTI episode, additional GU abnormalities, and renal length on initial US. After adjusting using the Pearson model, the presence of additional GU abnormalities was exclusively associated with complete involution among the 5 variables(P=0.034). Conclusion : In our review of 46 cases of MCDK, non-surgical approach for patients with MCDK was advisable and we could predict poor prognosis when MCDK is associated with other GU anomalies.

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THE PREVALENCE OF DOUBLE TEETH AND CONGENITAL MISSING TEETH IN PRIMARY DENTITION AND THEIR CORRELATION WITH THE PERMANENT DENTITION (유치열의 이중치 및 결손치의 발생빈도와 영구치열과의 상호관계)

  • Yang, Kyu-Ho;Lim, Hye-Jeong;Choi, Nam-Ki;Kim, Seon-Mi
    • Journal of the korean academy of Pediatric Dentistry
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    • v.34 no.3
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    • pp.447-453
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    • 2007
  • The purpose of this study was to investigate the relationship between morphology and number of deciduous teeth and the occurrence of other dental anomalies in their successors, and to evaluate the necessity of early diagnosis of dental anomalies in the primary dentition. Prevalence of double teeth and congenital missing teeth was investigated in 254(134 boys, 120 girls) panoramic radiographic films, taken by 2 to 7-year-old children in Chonnam National University Hospital from 2000 to 2005. And then it was examined that relationship of anomalies of the primary dentition and their successors. Among them 11 children(6 boys, 5 girls) had double teeth or missing teeth. And prevalence of the double teeth was 1.6% and missing teeth was 3.1%. One subject had double teeth in in the mandible and missing teeth in the maxilla. Of the 11 cases of dental anomalies in primary dentition, 7 cases had congenital missing tooth in their successors. This study suggests that the dental anomalies in the primary dentition induced high prevalence of the congenital missing of permanent successors in the permanent dentition.

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Surgical Treatment of Funnel Chest (누두흉에 대한 외과적 치험)

  • 이종호;정승혁;김병열
    • Journal of Chest Surgery
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    • v.32 no.4
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    • pp.399-403
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    • 1999
  • Background: Funnel chest is one of the most common anomaly of chest wall, which is manifested by depression of sternum and costal cartilage. Popular operative methods were Ravitch operation and Wada operation. Material and Method: From 1983 to 1996, 21 cases of funnel chest were corrected surgically in the department of thoracic surgery, National Medical Center. Investigated age and sex distribution, combined anomaly,clinical symptom, degree of correction and complication, postoperative satisfaction. We used 2 different surgical methods, one was Wada & its variants(17 cases), the other was Ravitch and it variants(4 cases). Most of operative indications were cosmetic problems. Result: The pre-operative Welch index was 4.188, but this index decreased to 3.46 after the operations.(p=0.046) The degree of correction was higher in Wada & it variant operation than the modified Ravitch operation.(p=0.54) Their results were satisfactory in 20 patients, while unsatisfactory in 1 patient because of a k-wire fracture. There was no recurrence of chest wall depression or postoperative death during the OPD follow up period. Conclusion: We recommend Wada operation in symmetric and small degree of depressive chest wall deformity in preand post school age.

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De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence (De novo interstitial direct duplication 8(p21.3p23.1)을 보인 Pierre Robin sequence 1예)

  • Lee, Soon Min;Park, Min Soo;Park, Kook In;Namgung, Ran;Lee, Chul;Lee, Jin Seong;Lee, Kyung A;Choi, Jong-Rak
    • Clinical and Experimental Pediatrics
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    • v.52 no.5
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    • pp.603-606
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    • 2009
  • The Pierre Robin sequence (PRS) is the nonrandom association of micrognathia, cleft palate, and glossoptosis, leading to respiratory and feeding difficulties that appear neurogenic rather than mechanical in causation. Genetic determinants are thought to underlie this functional and morphological entity, based on the existence of Mendelian syndromes with PRS. Here, we demonstrate the association of PRS with trisomy 8p due to duplication of a segment as the karyotype 46,XX,dup(8)(p21.3p23.1) and confirm the additional materials as chromosome 8 via whole chromosome paint probes. Our observation supports the hypothesis regarding a genetic basis for nonsyndromic PRS, strengthens the possible genetic association with isolated cleft palate, and provides a candidate PRS locus in chromosomal region 8(p21.3p23.1).

Surgical Management of Multiple Coronary Artery Aneurysms - A case report - (다발성 관상동맥류의 수술적 치료 - 1예 보고 -)

  • Kim, Chang-Young;Park, Kyung-Taek;Kim, Yeon-Soo;Ryoo, Ji-Yoon;Chang, Woo-Ik
    • Journal of Chest Surgery
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    • v.41 no.1
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    • pp.106-109
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    • 2008
  • Multiple coronary aneurysms are rare in adults. The cause may be atherosclerosis, congenital malformations, post-traumatic or post-syphilitic vascular lesions, connective tissue diseases like Marfan and Ehler-Danlos syndromes or Kawasaki disease, all of which cause weakening of the media. Surgical intervention is indicated to prevent rupture, embolization or compression symptoms. The successful management of multiple coronary artery. aneurysms, associated with previous rupture and arrhythmia, originating from proximal potions of ramus intermedius and left circumflex artery are reported.

Bilateral Persistent Sciatic Arteries Complicated with Aneurysmal Dilatation and Thrombotic Occlusion: A Case Report (동맥류와 혈전성 폐색이 동반된 양측 잔류좌골동맥: 증례 보고)

  • Seo Jin Jang;Yoonhee Han;Jae Hyun Kwon
    • Journal of the Korean Society of Radiology
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    • v.81 no.6
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    • pp.1517-1522
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    • 2020
  • Persistent sciatic artery (PSA), a rare congenital vascular anomaly, increases susceptibility to aneurysms and accounts for 40-61% of the cases. Here, we describe a case of PSA in a 70-yearold man with a history of alcoholic liver cirrhosis. Bilateral complete PSAs were detected incidentally on computed tomography angiography during evaluation for spontaneous intramuscular bleeding in the thigh due to cirrhosis-related coagulopathy. Selective angiography of the left PSA revealed aneurysmal dilatation and thrombotic occlusion of the PSA, which was partially removed with aspiration thrombectomy. Intramuscular bleeding was succesfully managed with empirical embolization of the deep femoral artery.

Clinical Applications of Neuroimaging with Susceptibility Weighted Imaging: Review Article (SWI의 신경영상분야의 임상적 이용)

  • Roh, Keuntak;Kang, Hyunkoo;Kim, Injoong
    • Investigative Magnetic Resonance Imaging
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    • v.18 no.4
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    • pp.290-302
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    • 2014
  • Purpose : Susceptibility-weighted magnetic resonance (MR) sequence is three-dimensional (3D), spoiled gradient-echo pulse sequences that provide a high sensitivity for the detection of blood degradation products, calcifications, and iron deposits. This pictorial review is aimed at illustrating and discussing its main clinical applications. Materials and Methods: SWI is based on high-resolution, 3D, fully velocity-compensated gradient-echo sequences using both magnitude and phase images. To enhance the visibility of the venous structures, the magnitude images are multiplied with a phase mask generated from the filtered phase data, which are displayed at best after post-processing of the 3D dataset with the minimal intensity projection algorithm. A total of 200 patients underwent MR examinations that included SWI on a 3 tesla MR imager were enrolled. Results: SWI is very useful in detecting multiple brain disorders. Among the 200 patients, 80 showed developmental venous anomaly, 22 showed cavernous malformation, 12 showed calcifications in various conditions, 21 showed cerebrovascular accident with susceptibility vessel sign or microbleeds, 52 showed brain tumors, 2 showed diffuse axonal injury, 3 showed arteriovenous malformation, 5 showed dural arteriovenous fistula, 1 showed moyamoya disease, and 2 showed Parkinson's disease. Conclusion: SWI is useful in detecting occult low flow vascular lesions, calcification and microbleed and characterising diverse brain disorders.