선천성 기관 협착 환자의 기관성형술 2예

임홍국,이창하,황성욱,이철,김재현,서홍주,정성철 대한흉부외과학회 2005 Journal of Chest Surgery (J Chest Surg) Vol.38 No.8

선천성 기관 협착증은 드문 질환이며, 장분절성 기관 협착은 아주 치명적이다. 신생아나 영아에서 심한 호흡 부전이 발생하고 복합 심기형이 동반되면 수술 교정이 쉽지 않다. 선천성 심기형을 동반한 장분절성 기관 협착으로 인공 호흡기 이탈이 불가능한 2.6 kg 체중의 어린 영아 1예와 신생아 1예에서 기관성형술을 시행하였다. 심실중격결손증 수술 후 미만성 기관 협착이 발견된 어린 영아는 기관 절제술 및 좌측 주 기관지로의 확장 문합술을 시행받았으며, 미만성 근위부 기관 협착과 팔로사징을 동반한 신생아는 활주 기관성형술과 팔로사징 완전 교정술을 동시에 시행받았다. 두 환아 모두 술후 컴퓨터 단층 촬영에서 양호한 결과를 보였으며, 현재 증상 없이 건강한 상태이다. Congenital tracheal stenosis can be a life-threatening disease, especially in cases involving the long-segment of the trachea. When patients are symptomatic immediately after birth or develop an accompanying complex cardiac anomaly, surgical repair can be a considerable challenge. We experienced a tracheoplasty in one early infant weighing 2.6 kg and one neonate who had ventilator dependency from long-segment congenital tracheal stenosis and congenital cardiac anomaly. One early infant, who had diffuse stenosis of distal trachea after ventricular septal defect closure, underwent resection and extended end to end anastomosis. One neonate who had diffuse stenosis of proximal trachea with tetralogy of Fallot (TOF), underwent slide tracheoplasty with total correction for TOF. Postoperative chest computed tomography showed widely patent trachea. Both infants are now well without symptoms.

A case of collision tumor composed of dermatofibroma and congenital melanocytic nevi

( Min Ji Kang ),( Soo Young Lee ),( Young Bok Lee ),( Dong Soo Yu ),( Jin-wou Kim ) 대한피부과학회 2018 대한피부과학회 학술발표대회집 Vol.70 No.1

A cutaneous collision tumor occurs when two or more cutaneous tumors coexist in a single lesion. These tumors usually have misleading clinical and histological presentations, making them a diagnostic challenge. The pathogenesis of coexisting skin tumors remain a matter of speculation. Some authors consider the various combinations to be merely coincidental, whereas others hypothesized that the presence of one tumor may induce epithelial or stromal changes responsible for the development of a second tumor. A 51-year-old female presented with pruritic, solitary, 1cm-sized, blackish protruding nodule with surrounding blackish plaque on the Rt. Knee. She reported a pigmented plaque since birth, with significant growth in the last 25 years. To diagnose malignant melanoma arising in a congenital melanocytic nevi, skin biopsies were performed. Histological examination revealed a compound melanocytic nevus with congenital-like growth pattern and a dermatofibroma, with no signs of malignancy. Staining for CD34 showed negativity. Based on these findings, diagnosis of dermatofibroma arising from congenital melanocytic nevi was made. Wide excision of the lesion was performed after the diagnosis. The patient is under close follow up without any sign of recurrence. Herein, we report a rare case of collision tumor composed of dermatofibroma and congenital melanocytic nevi on the Rt. Knee in a 51-year-old woman.

우측난소임신의 복강경적 치료 중 우연히 발견된 선천성 좌측 난소난관 형성부전 환자

장재연 ( Jae Yeon Jang ),김윤숙 ( Yun Sook Kim ),황인철 ( In Chul Hwang ),한효상 ( Hyo Sang Han ),선우재근 ( Jae Gun Sunwoo ),배동한 ( Dong Han Bae ) 대한산부인과학회 2009 Obstetrics & Gynecology Science Vol.52 No.11

Asymptomatic unilateral absence of a portion of a fallopian tube with or without adjacent ovarian agenesis is a very rare condition. The true incidence is unknown. Two etiologic causes are possible. Asymptomatic segmental torsion of the uterine tube and ovarian pedicle may occur for certain reasons during adulthood, in childhood, or even during the fetal stages. Consequently, torsion may give rise to necrosis and autoamputation. Alternatively, the absence of these organs may be congenital. Ovarian pregnancy is a rare form of ectopic pregnancy occurring in 0.5~1% of all ectopic pregnancies. Moreover, ovarian pregnancy in patient with congenital unilateral tubal and ovarian agenesis has not been reported. But, the presenting symptom is very similar and difficult to distinguish with other forms of ectopic pregnancy. Early detection is important role in preserving fertility to avoid the ablation of functional ovarian tissue. We report a case of congenital unilateral tubal and ovarian agenesis diagnosed during laparoscopic treatment of ovarian pregnancy.

Congenital Smooth Muscle Hamartoma:a Patchy Follicular Variant

Kwon, Soon Baek,Lee, Seok Jong,Kim, Do Won,Jun, Jae Bok Korean Dermatological Association 2000 Annals of Dermatology Vol.12 No.3

선천성 발진성 연모 낭종 1예

이나영,김지숙,최유원,황규광,함정희 대한피부과학회 2004 대한피부과학회지 Vol.42 No.3

An eruptive vellus hair cyst is an uncommon, benign, epithelial tumor with hair differentiation. Clinically, it presents as asymptomatic, flesh-colored to yellowish, follicular papules, 1 to 4 ㎜ in diameter, most commonly on the chest. It is usually sen in children and young adults but may be congenital. Histologically, it shows a middermal cyst lined by squamous epithelium containing keratinous material and vellus hairs. It has a tendency to clear spontaneously but may be persistent. We report a case of congenital eruptive vellus hair cyst in an 11-year-old girl who presented multiple pinhead-sized brown to black papules on her anterior chest since birth. (Korean J Dermatol 2004;42(3):362~363)

선천성 자궁체부 낭종

이승필 ( Seung Pil Lee ),조향정 ( Hyang Jung Jo ) 대한산부인과학회 2005 Obstetrics & Gynecology Science Vol.48 No.3

Cysts of the uterus are classified into two groups, acquired and congenital. The congenital cysts which are thought to arise from Mullerian or Wolffian remnants, are exceedingly rare. The acquired uterine cysts are by far the more common of the two groups

심실중격결손의 형태에 따른 양대혈관.우심실기시증의 수술 및 장기 결과

유송현,박영환,박한기,조범구 대한흉부외과학회 2005 Journal of Chest Surgery (J Chest Surg) Vol.38 No.3

심실대혈관 연결 이상에 대한 변형된 Lecompte 술식의 장기 성적

임홍국,한국남,김웅한,이정렬,김용진,노준량 대한흉부외과학회 2004 Journal of Chest Surgery (J Chest Surg) Vol.37 No.9

Background: The Lecompte procedure for transposition of the great arteries has an advantage because it obviates the need for an extracardiac conduit for the reconstruction of the pulmonary outflow tract. We evaluated the effectiveness and the application of the Lecompte procedure. Material and Method: A retrospective review was conducted of the records of 46 patients who underwent the Lecompte procedure during the past 15 years. Mean age at operation was 29.2±20.3 (range: 3~83) months. The diagnoses involved anomalies of the ventriculoarterial connection with ventricular septal defect and pulmonary outflow tract obstruction, such as transposition of the great arteries, double-outlet right ventricle, and double-outlet left ventricle. Result: Early mortality was 4.4% (2 of 46 patients) and late mortality was 6.8% (3 of 44). The mean follow-up was 11.2±6.9 years. Eighteen patients (43.9% of survivors, n=41) had pulmonary stenosis (pressure gradient above 30 mmHg), the main reason for which was a calcified monocusp valve (n=15, 83.3%). Seventeen of 46 patients (37.0%) underwent reoperation: 15 for pulmonary stenosis, 5 for residual ventricular septal defect, 4 for left ventricular outflow tract obstruction, 3 for pulmonary insufficiency, and 4 for other causes. The cumulative survival rates were 91.3±4.2%, and 87.0±5.8% at 10 and 15 years, respectively. The actuarial probabilities of freedom from reoperation for pulmonary stenosis were 90.6±4.5%, 73.9±7.3%, and 54.0±10.4% at 5, 10, and 15 years, respectively. Conclusion: The Lecompte procedure is an effective treatment modality. Repair in early age is possible with acceptable morbidity and mortality, but recurrent right ventricular outflow tract obstruction caused by degeneration of the monocusp valve is a problem that needs resolution. 배경: 심실대혈관 연결 이상을 교정하기 위한 Lecompte 술식은 폐동맥 협착의 재건을 위해 심장외 도관이 필요없는 장점이 있다. 저자들은 Lecompte 술식의 장기 성적을 분석하여 그 효과와 적용 가능성을 평가하였다. 대상 및 방법: 1988년 7월부터 2004년 4월까지 서울대학교 어린이병원 흉부외과에서는 총 46명의 환아에서 상기 술식을 시행하였다. 평균 연령은 29.2 20.3 (범위: 3∼83)개월이었다. 술 전 진단은 심실중격결손과 폐동맥 협착(또는 폐쇄)을 동반한 완전대혈관 전위가 30명이었고(65.2%), 폐동맥 협착(또는 폐쇄)을 동반한 양대혈관 우심실 기시가 14명(30.4%), 방실중격 결손과 폐동맥 협착을 동반한 완전대혈관 전위가 1명(2.2%), 폐동맥 협착을 동반한 양대혈관 좌심실 기시가 1명(2.2%)에서 있었다. 결과: 대상 환자 중 2명(4.4%)의 조기 사망이 있었으며, 3명(6.8%)의 만기 사망이 있었다. 평균 추적 관찰 기간은 11.2 6.9년이었다. 18명(43.9%)에서 30 mmHg 이상의 우심실 유출로 협착이 있었으며, 그 주된 원인은 15명(83.3%)에서 석회화된 단엽 판막 때문이었다. 17명(37.0%)에서 재수술을 시행하였으며, 재수술을 시행한 원인은 우심실유출로 협착이 15명(32.6%), 잔존 심실 중격 결손이 5명, 좌심실 유출로 협착이 4명, 폐동맥판막 폐쇄부전이 3명, 기타 4명이었다. 누적 생존율은 10년에 91.3 4.2%였으며, 15년에 87.0 5.8%였다. 잔존 우심실 유출로 협착에 대한 재수술 없이 생존할 확률은 5년에 90.6 4.5%였으며, 10년에 73.9 7.3%였으며, 15년에 54.0 10.4%였다. 결론: Lecompte 술식은 폐동맥 협착을 갖는 많은 선천성 심기형에 대한 효과적인 치료 방법이다. 좋은 장기 성적을 보이며, 어린 연령에서도 시행할 수 있으나, 단엽 판막의 퇴행성 변화에 의한 우심실 유출로 협착의 재발이 해결되어야 할 문제이다.

Environmental and Genetic Risk Factors of Congenital Anomalies: an Umbrella Review of Systematic Reviews and Meta-Analyses

Lee Kyung-Shin,Choi Yoon-Jung,Cho Jinwoo,Lee Hyunji,Lee Heejin,Park Soo Jin,Park Joong Shin,Hong Yun-Chul 대한의학회 2021 Journal of Korean medical science Vol.36 No.28

Background: The prevalence of congenital anomalies in newborns in South Korea was 272.9 per 100,000 in 2005, and 314.7 per 100,000 in 2006. In other studies, the prevalence of congenital anomalies in South Korea was equivalent to 286.9 per 10,000 livebirths in 2006, while it was estimated 446.3 per 10,000 births during the period from 2008 to 2014. Several systematic reviews and meta-analyses analyzing the factors contributing to congenital anomalies have been reported, but comprehensive umbrella reviews are lacking. Methods: We searched PubMed, Google Scholar, Cochrane, and EMBASE databases up to July 1, 2019, for systematic reviews and meta-analyses that investigated the effects of environmental and genetic factors on any type of congenital anomalies. We categorized 8 subgroups of congenital anomalies classified according to the 10th revision of the International Statistical Classification of Diseases (ICD-10). Two researchers independently searched the literature, retrieved the data, and evaluated the quality of each study. Results: We reviewed 66 systematic reviews and meta-analyses that investigated the association between non-genetic or genetic risk factors and congenital anomalies. Overall, 269 associations and 128 associations were considered for environmental and genetic risk factors, respectively. Congenital anomalies based on congenital heart diseases, cleft lip and palate, and others were associated with environmental risk factors based on maternal exposure to environmental exposures (air pollution, toxic chemicals), parental smoking, maternal history (infectious diseases during pregnancy, pregestational and gestational diabetes mellitus, and gestational diabetes mellitus), maternal obesity, maternal drug intake, pregnancy through artificial reproductive technologies, and socioeconomic factors. The association of maternal alcohol or coffee consumption with congenital anomalies was not significant, and maternal folic acid supplementation had a preventive effect on congenital heart defects. Genes or genetic loci associated with congenital anomalies included MTHFR, MTRR and MTR, GATA4, NKX2-5, SRD5A2, CFTR, and 1p22 and 20q12 anomalies. Conclusion: This study provides a wide perspective on the distribution of environmental and genetic risk factors of congenital anomalies, thus suggesting future studies and providing health policy implications.

선천성 기형에 관한 임상연구

진건(Keon Jin),김종수(Jong Soo Kim),고경심(Kyung Sim Koh),박충학(Choong Hak Park) 대한산부인과학회 2002 Obstetrics & Gynecology Science Vol.45 No.1

The term congenital anomalies here refers to structural defect (congenital malformations, deformations, disruptions and dysplasias), chromosomal abnormalities, inborn errors of metabolism and hereditary disease. The prevalence of major congenital malformation (I.e., defects either incompatible with life or severe enough to interfere with normal living) is about 2% to 3%. In the past, infection was one of the major cause of perinatal morbidity and mortality, but owing to the development of antibiotics and intensive care, congenital anomalies are becoming a major cause of perinatal morbidity and mortality. Perinatal diagnosis of congenital anomalies is becoming more important because appropriate perinatal care may minimize the effect of congenital anomalies. This report was based on the 234 cases of the congenital anomalies among 8,099 newborns delivered at Dankook University Hospital from Mar. 1st, 1995 to Feb. 28th, 2000. The analyzed results were as follows: 1. The overall incidence of the congenital anomalies was 2.9%. The incidence of congenital anomalies in male newborns (141, 60.2%) was statistically significantly higher than that of female (90, 38.5%) and ambiguous (3, 1.3%). 2. The incidence of the congenital anomalies of 21-25 year old maternal age was the lowest among each other age group. The incidence of this group was 1.6%, of less than 20 year old group was 2.7%, of over 35 year old group was 2.9%. But there was no statistically significant difference among each maternal age groups. 3. There was no statistically significant difference in the incidences of congenital anomalies between parity. 4. The incidence of low-birth weight less than 2,500 g in congenital anomalies was 9.2%, which was 5.1 times higher than that of the more than 2,500 g. 5. The incidence of vertex presentation in congenital anomalies (192, 82.1%) was very high compared to breech presentation (42, 17.9%). 6. In the method of deliveries, vaginal deliveries was 131 cases (56.0%) and cesarean section was 103 cases (44.0%). 7. The incidence of the congenital anomalies in stillbirth was 28.4%, which was 13 times higher than that of the live birth. 8. The perinatal mortality rate in congenital anomalies were 93 cases (39.7%) and stillbirths were 62 cases (28.4%). 9. When classified according to the type of congenital anomalies, the rate of the incidence was 13.3% (31 cases) in central nervous system, 9.4% (22 cases) in neck and face anomaly, 6.8% (16 cases) in cardiac anomaly, 1.3% (3 cases)in pulmonary anomaly, 5.5% (13 cases) in gastrointestinal anomaly, 13.7% (32 cases) in genitourinary anomaly, 18.4% (43 cases) in musculoskeletal anomaly, 9.0% (21 cases) in skin and soft tissue anomaly, 14.1% (33 cases) in multiple anomaly and 5.5% (13 cases) in chromosomal anomaly. The most common major congenital anomalies was hydrocephalus (14 cases, 5.9%) and polycystic kidney (14 cases, 5.9%). The rate of perinatal mortality of the congenital anomalies was 38.5%, particularly it was the highest in the CNS anomalies which were 89.7%, the next 50.0% in cardiopulmonary anomalies.