• 건강소식
• /
• v.14 no.6 s.139
• /
• pp.2-5
• /
• 1990

건협 부산지부는 지난해부터 선천성대사이상질환 중 페닐케톤뇨증(PKU)에 대한 검사를 실시해, 관련 의료기관으로부터 좋은 반응을 불러 일으키고 있다. 지난해 2월부터 검사의 필요성에 대한 계몽작업을 시작해 지금까지 가검물수집, 검사, 결과통보까지 성실히 수행해 오고 있는 부산지부는, 지난해의 검사에 대한 평가를 통해 올해에는 선천성 대사이상 질환의 발견율을 증가시키기 위해 검사종목의 확대 등에 대한 계획을 수립, 진행시키고 있다. 부산지역 내 신생아 건강관리에 일익을 담당하고 있는 이 검사사업이 전국적으로 확대되어 정신박약아의 발생을 사전에 예방할 수 있게 되기를 바라면서 부산지부의 검사 실시 과정과 앞으로의 계획을 들어보기로 한다.

• Proceedings of the KOR-BRONCHOESO Conference
• /
• 1991.06a
• /
• pp.31-31
• /
• 1991

후두격막은 1822년 Fleichman이 호흡곤란과 발성장애를 야기한 례를 최초로 보고하였으며 선천성으로나 후천성으로 발생할 수 있다. 선천성후두격막은 태생 10주경의 후두발생장애로 발생한다고 알려져 있으며 성문부위에서 가장 많이 발견되며 후천성후두격막은 감염, 외상, 수술 및 방사선조사 후 발생한다. 저자들은 최근 1례의 선천성후두격막과 4례의 후천성후두격막환자를 치험하였기에 문헌고찰과 함께 보고하는 바이다.

• Journal of Chest Surgery
• /
• v.30 no.8
• /
• pp.833-837
• /
• 1997

Congenital tracheal stenosis is very rare, but it leads to life threatening obstruction in infancy and childhood. Recently, we experienced two cases of congenital tracheal stenosis, involving half of the distal trachea. We adopted slide tracheoplasty procedure Proposed by Peter Goldstraw Tracheoplasty was performed by dividing the stenosis at midpoint, incising the proximal and distal narrow segments vertically on opposite anterior and posterior surfaces, and sliding these together. On case 1, the patient':s now doing well. On case 2, the patient succumbed due to anastomotic disruption at postoperative ay 4.

• 가정의 벗
• /
• v.37 no.2 s.426
• /
• pp.12-13
• /
• 2004

출생아 100명중 1명에게 나타난다고 하는 선천성 심장병, 태아 심장 초음파 검사로 심장병이 있는 태아가 태어나지도 못하는 등 많은 문제를 가지고 있습니다. 그러나 치료 기술이 발전하여 조기 진단과 적절한 치료를 받게 되면 정상 수명까지 살 수 있습니다.

• Journal of Chest Surgery
• /
• v.30 no.2
• /
• pp.231-235
• /
• 1997

Congenital cystic adenomatoid malformation of the lung is a rare pulmonary malformation, Although it is one of the most common congenital anomalies which cause acute respiratory distress in the newborn infants, characterized by marked proliferation of terminal respiratory structures. We have experienced an unusual case of congenital cystic adenomatoid malformation associated with pectus excavatum. The patient was 3-year-old female who suffered from cough and high fever for 20 days, and antibiotic therapy was given in other hospital before transfer to our hospital. The findings on chest X-ray, chest CT, aortogram, and selective bronchial arteriogram showed cystic lesions in the right upper and middle lobe accompanied but severe pectus excavatum. Right bilobectomy for pulmonary lesion and costosternal elevation for pectus excavatum was performed simultaneously with successful result. The postoperative course was uneventful and the patient was discharged on the twentieth postoperative day.

• Journal of The Korean Dental Society of Anesthesiology
• /
• v.7 no.1
• /
• pp.22-26
• /
• 2007

상악과 하악이 선천적으로 붙어서 태어나는 선천성 유합증은 드문 선천성 기형으로 단순히 점막이 붙은 점막유합증에서 악골이 붙은 골유합증까지 다양하게 나타난다. 이중 상악골과 하악골의 골자체가 붙는 골유합증은 아주 드물어서 현재까지 26증례만 보고되고 있는데, 보고된 대부분의 증례는 편측에만 발생하는 불완전형으로 알려져 있다. 7세 된 여아환자가 인디아의 GSR 병원에 입이 벌어지지 않는다는 주소로 내원하였는데 환아의 턱은 완전히 움직이지 않았으며, 2-3 mm 정도 벌어지는 앞니부위에서는 2.5 cm 폭경의 3.0 mm 두께의 단단한 치조점막이 관찰되었다. 전기메스로 전방부의 부착성 섬유밴드를 잘라준 후 즉각적인 개구정도는 16 mm 정도까지 가능하여 구강으로의 기관삽관이 가능하였다. 삽관후 양쪽 후방부 협측점막의 두꺼운 밴드들을 모두 제거하여 개구량을 33 mm까지 증진시킨 후 수술을 종결하였다. 환아의 보호자에게 거즈 블록과 설압자를 이용하여 개구 연습을 능동적으로 시키도록 강조하여 교육하였으며 술후 16개월 경과시까지 특별한 합병증이나 개구량 감소는 관찰되지 않았다. 독립적으로 발생한 선천성 치조점막 유합증 환자에서 비정상적으로 커져있는 과두와 설골이 관찰되었는데, 설-하악 구조의 비정상적인 발육에 기인하여 지속적인 비정상적 운동으로 인한 이차적인 치은과 협점막의 섬유성 부착이 생긴 것으로 추측되었다. 이에 마취과와의 효율적인 협진으로 기관절개술 등의 부가적인 마취방법 없이 효과적으로 치료할 수 있었다.

• Journal of Chest Surgery
• /
• v.39 no.2 s.259
• /
• pp.171-175
• /
• 2006

Minimally invasive thoracic surgery has been one of the most important surgical advances recently. Congenital cystic adenomatoid malformation of the lung is a relatively rare anomaly and is clearly associated with various congenital anomalies such as pectus excavatum, cardiac and pulmonary vascular lesions. We have experienced a case that was treated with minimal invasive methods for congenital cystic adenomatoid malformation involving in the right lower lobe and pectus excavatum in a 5-year-old boy. We simultaneously performed thoracoscopic right lower lobectomy and Nuss procedure of pectus excavatum using a substernal steel bar. Therefore, a minimally invasive surgical treatment for this diseases is feasible and cosmetically excellent.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.45 no.4
• /
• pp.514-520
• /
• 2018

Congenital absence of the primary canines is very rare. Congenital absence of primary teeth often causes their successors to not develop at all or affects the eruption of their successors. The purpose of this paper was to report the cases of 2 children with early eruption of the maxillary permanent canines at ages 4 and 6 years, respectively, following congenital absence of their maxillary primary canines, which are not common in earlier studies. Although tooth eruption and shedding exhibit some physiological variation, certain clinical cases are extreme. Premature eruption of the maxillary permanent canines may cause complications in terms of the space available for the eruption of adjacent teeth. Additionally, early eruption of permanent teeth increases the need for more careful oral hygiene. Therefore, the pediatric dentist must be alert to such rare cases.

• Journal of the Korea Convergence Society
• /
• v.10 no.3
• /
• pp.347-354
• /
• 2019

Purpose: The purpose of this study was to determine the relationships among health related quality of life and uncertainty in adult patients with congenital heart diseases. Methods: The subjects were 136 adult congenital heart disease patients at the congenital heart center out-patient clinic of the A General Hospital in S city. Data were analyzed using descriptive statistics, t-test, ANOVA, Pearson's correlation coefficient and multiple regression. Results: There were significant negative correlations of quality of life with general motor function area and uncertainty. Among predictors, gross motor(${\beta}=-.38$) and daily activity (${\beta}=-.21$) had statistically significant influences on uncertainty(F=6.15, p=.018). Conclusion: Nursing interventions to promote gross motor and daily activity might be essential for adult patients with congenital heart disease in order to reduce uncertainty.

• Childhood Kidney Diseases
• /
• v.13 no.1
• /
• pp.84-91
• /
• 2009

We experienced a female neonate with congenital nephrotic syndrome (CNS) associated with congenital diaphragmatic hernia (CDH). Because of the rare combination of two conditions, we report this case with literature review. CDH was found immediately after birth and emergency operation was done for hernia repair. But on the next day, generalized edema and oliguria(0.59 mL/kg/hour) was found and her blood chemistry showed hypoalbuminemia (1.6 g/dL), increased BUN (27.7 mg/dL) and serum creatinine( 1.8 mg/dL) along with heavy proteinuria (4+). We started albumin infusion with a bolus of intravenous furosemide. We suspected the neonate had congenital nephrotic syndrome and her 24hr urine protein was 1,816 mg/day. In spite of immunosuppressive therapy, the nephrotic syndrome and renal failure progressed. We started peritoneal dialysis on the day of life 22 but it was not satisfactory. She was complicated by intracranial hemorrhage and multi-organ failure and expired at 34 days of age. Kidney necropsy was performed which showed diffuse mesangial sclerosis (DMS). Her chromosome study revealed 46, XX and her gene study revealed a heterozygous missense mutation, Arg366His, in Wilms tumor suppressor gene (WT1). This case deserves attention on account of the 4th case of CNS with CDH revealing the Arg366His mutation in the WT1 gene and G the 1st case of early onset renal failure without male pseudohermaphroditism and Wilms tumor with CNS, CDH and the Arg366His mutation in the WT1 gene. So, this report gives support to the hypothesis that Arg366His mutation in the WT1 gene can result in CNS and CDH.