• 제목/요약/키워드: birth defects

검색결과 89건 처리시간 0.022초

구순구개열 발생의 분자유전학 연구를 위한 유전자 표적/적중 생쥐모델의 이용 (Gene Targeting Mouse Genetic Models for Cleft Lip and Palate)

  • 백진아
    • 대한구순구개열학회지
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    • 제11권2호
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    • pp.65-70
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    • 2008
  • Cleft lip and/or palate are common birth defects in humans and the causes including multiple genetic and environmental factors are complex. Combinations of genetic, biochemical, and embryological approaches in the laboratory mice are used to investigate the molecular mechanisms underlying normal craniofacial development and the congenital craniofacial malformations including cleft lip and/or palate. Both forward and reverse genetic approaches are used. The forward genetic approach involves identification of causative genes and molecular pathways disrupted by uncharacterized mutations that cause craniofacial malformations including cleft lip and/or cleft palate. The reverse genetic approach involves generation and analyses of mice carrying null or conditional mutations using the Cre-loxP mediated gene targeting techniques.

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Reproductive outcomes of retransferring retained embryos in blastocyst transfer cycles

  • Yi, Hyun Jeong;Koo, Hwa Seon;Cha, Sun Hwa;Kim, Hye Ok;Park, Chan Woo;Song, In Ok
    • Clinical and Experimental Reproductive Medicine
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    • 제43권2호
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    • pp.133-138
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    • 2016
  • Objective: To determine the incidence of embryo retention (ER) in the transfer catheter following embryo transfer (ET) in blastocyst transfer and investigate whether retransferring retained embryos has an impact on reproductive outcomes in patients undergoing in vitro fertilization-ET. Methods: We retrospectively analyzed the records of 1,131 blastocyst transfers, which comprised 223 single blastocyst transfer (SBT) and 908 double blastocyst transfer (DBT) cycles. Each SBT and DBT group was classified depending on whether ET was performed without retained embryos in the catheter during the first attempt (without-ER group) or whether any retained embryos were found following ET (ER group) for the purpose of comparing reproductive outcomes in a homogenous population. Results: The overall incidence of finding retained embryos was 2.8% (32/1,131). There were no retained embryos in SBT cycles. In DBT cycles, implantation rates (30.0% vs. 26.6%), positive ${\beta}-hCG$ rates (57.2% vs. 56.2%), clinical pregnancy rates (45.3% vs. 46.9%), and live birth rates (38.9% vs. 43.8%) were not significantly different between the without-ER and ER groups. There were no significant differences in the mean birth weight (g) $2,928.4{\pm}631.8$ vs. $2,948.7{\pm}497.8$ and the mean gestational age at birth ($269.3{\pm}17.2days$ vs. $264.2{\pm}25.7days$). A total of nine cases of congenital birth defects were found in this study population. Eight were observed in the without-ER group and one in the ER group. Conclusion: Our results suggest that retransfer of retained embryos does not have any adverse impact on reproductive outcomes in blastocyst transfer cycles. Furthermore, our results support finding that SBT might be advantageous for decreasing the incidence of retained embryos in catheters.

Neonatal Patent Ductus Arteriosus Ligation Operations Performed by Adult Cardiac Surgeons

  • Chung, Yoon Sang;Cho, Dai Yun;Kang, Hyun;Lee, Na Mi;Hong, Joonhwa
    • Journal of Chest Surgery
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    • 제50권4호
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    • pp.242-246
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    • 2017
  • Background: Patent ductus arteriosus (PDA) ligation is usually performed by congenital cardiac surgeons. However, due to the uneven distribution of congenital cardiac surgeons in South Korea, many institutions depend solely on adult cardiac surgeons for congenital cardiac diseases. We report the outcomes of PDA ligations performed by adult cardiac surgeons at our institution. Methods: The electronic medical records of 852 neonates at Chung-Ang University Hospital, Seoul, South Korea from November 2010 to May 2014 were reviewed to identify patients with PDA. Results: Of the 111 neonates with a diagnosis of PDA, 26 (23%) underwent PDA ligation. PDAs were ligated within 28 days of birth (mean, $14.5{\pm}7.8days$), and the mean gestational age of these patients was $30.3{\pm}4.6weeks$ (range, 26 to 40 weeks) with a mean birth weight of $1,292.5{\pm}703.5g$ (range, 480 to 3,020 g). No residual shunts through the PDA were found on postoperative echocardiography. There was 1 case of 30-day mortality (3.8%) due to pneumonia, and 6 cases of in-hospital mortality (23.1%) after 30 days, which is comparable to results from other centers with congenital cardiac surgery programs. Conclusion: Although our outcomes may not be generalizable to all hospital settings without a congenital cardiac surgery program, in select centers, PDA ligations can be performed safely by adult cardiac surgeons if no congenital cardiac surgery program is available.

Folate during reproduction: the Canadian experience with folic acid fortification

  • Lindzon, Gillian;O'Connor, Deborah L.
    • Nutrition Research and Practice
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    • 제1권3호
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    • pp.163-174
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    • 2007
  • Folate has received international attention regarding its role in the risk-reduction of birth defects, specifically neural tube defects (NTDs). In 1998 health officials in Canada, like the United States, mandated the addition of folic acid to white flour and select grain product's to increase the folate intake of reproductive-aged women. Subsequent to this initiative there has been an increase in blood folate concentrations in Canada and a 50% reduction in NTDs. Many countries, including Korea, have not mandated folic acid fortification of their food supply. Reasons vary but often include concern over the masking of vitamin $B_{12}$ deficiency, a belief that folate intakes among womenare adequate, low priority relative to other domestic issues, and the philosophy that individuals have the right not to consume supplemental folic acid if they so choose. Prior to folic acid fortification of the food supply in Canada, the folate intakes of women were low, and their blood folate concentrations while not sufficiently low to produce overt signs of folate deficiency (eg. anemia) were inconsistent with a level known to reduce the risk of an NTD-affected pregnancy. The purpose of this article is to describe the role of folate during the periconceptional period, pregnancy, and during lactation. The rationale for, and history of recommending folic acid-containing supplements during the periconceptional period and pregnancy is described as is folic acid fortification of the food supply. The impact of folic acid fortification in Canada is discussed, and unresolved issues associated with this policy described. While the incidence of NTDs in Canada pre-folic acid fortification were seemingly higherthan that of Korea today, blood folate levels of Korean women are strikingly similar. We will briefly explore these parallels in an attempt to understand whether folic acid fortification of the food supply in Korean might be worth consideration.

소아질환의 형상의학적 치료 (Treatments of Infantile Diseases in Hyungsang Medicine)

  • 정행규;강경화;이용태
    • 동의생리병리학회지
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    • 제21권2호
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    • pp.561-566
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    • 2007
  • After researching on infantile diseases in Hyungsang medicine, the writer got the conclusions as follows. The infants who are excess of the Yang energy need to nourish the Eum- blood. The main causes of the infantile disorders are congenital defect and malfunction of internal organs by nature, as results of these they suffer from mental disorders or being undergrown. And after birth they get ill from internal injury or external affections, mainly epilepsy by retention of undigested food, fever, cough, asthma, nasal obstruction, dermatopathia, and affection by cold, etc. In Hyungsang medicine Dam-body is apt to get ill from deficiency of Eum-blood and bangkwang-body from deficiency of Yang-energy. And infants are hare to be moderate in food, so they become to diseases of the Spleen and stomach, especially infants with Yangmyung type get to epilepsy, cough, skin disorders, and obese for the reasonof overeating. Among main infantile symptoms congenital defects, infantile mental disorders, and convulsive diseases come from congenital defect and malfunciton of internal organs, so it must be treated the symptoms following the reasons. Above all infantile mental disorders are treated not to separate the spirit from the body. And fever, cough and asthma, affection by cold, skin diseases, poor appetite, and obese come from deficiency of Kidney or the deficiency and excess of the Spleen and stomach. In order to prevent from infantile diseases right antenatal training, taking medicine rightly, exercise and eating good habits are needed to give guidance. Seeing through the clinical cases in Hyungsang medicine, we come to know that the infantile mental disorders come out primarily for the reasons of the congenital defect, and the infantile epilepsy come from malfunction of internal organs, and the nasal obstruction and skin diseases come from deficiency of Kidney or the deficiency and excess of the Spleen and stomach.

전전뇌증(Holoprosencephaly)의 증례보고 (A Case Report of Holoprosencephaly)

  • 송승한;강낙헌
    • Archives of Plastic Surgery
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    • 제34권4호
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    • pp.528-530
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    • 2007
  • Purpose: Holoprosencephaly(HPE) is a rare developmental defect due to incomplete cleavages of the prosencephalon during the third week of fetal development. Chromosomal anomalies, genetic syndrome, teratogen, or genetic disorder of non-syndromic HPE are usually accepted as etiology. The consequences of prechordal mesoderm defect are varying degrees of deficit of midline facial development, especially the median nasal process(premaxilla), and incomplete morphogenesis of the forebrain. We experienced a case of lobar HPE with complete cleft lip and palate. Methods: A female newborn infant was born at $38^{+6}$ weeks' gestational age via NSVD. The infant's birth weight was 3.6 kg, height 52 cm, and head circumference 32.5 cm, showing microcephaly, flat nose, median complete cleft lip & palate, and hypotelorism, along with defects of midfacial development including losses of premaxilla, philtrum, nasal septum, and columella. Results: There were no specific findings noted from the head and neck X-ray and tests for endocrine and metabolic disorders, but clinical characteristics of midface and dysgenesis corpus callosum on brain MRI were seen, so that this case was diagnosed with HPE. Conclusion: HPE is divided into three categories of alobar, semilobar, and lobar prosencephaly according to the degree of cerebral hemisphere separation. Assesment of patient's brain abnormality and malformation is essential in determining the extent and benefit of surgical intervention. This case was included in the lobar type HPE which shows relatively good prognosis compared with other types and reconstruction of median complete cleft lip & palate and midfacial defects will be performed.

신생아 집중치료실 퇴원아의 청성뇌간반응(ABR) 결과에 미치는 위험인자 및 경과 (Auditory brainstem response (ABR) results in NICU graduates)

  • 최희정;이태호;오기원;김행미
    • Clinical and Experimental Pediatrics
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    • 제49권12호
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    • pp.1301-1307
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    • 2006
  • 목 적 : 신생아기의 청력 소실은 그 빈도가 높으며 조기 발견 및 조기 치료가 예후를 결정하는데 중요하다. 신생아 집중치료실에 입원했던 신생아들은 일반 신생아에 비해 청력 소실의 빈도가 더 높은 것으로 알려지고 있다. 이에 저자들은 신생아 집중치료실에 입원했던 신생아를 대상으로 청력 소실의 발생 빈도와 위험 인자 및 청력 소실의 양상을 조사하기 위해 이 연구를 시행하였다. 방 법 : 2002년 7월부터 2005년 6월까지 3년간 경북대학교병원 신생아 집중치료실에 입원한 환아를 대상으로 ABR 검사를 시행하여 이들의 청력 소실 정도와 이와 관련된 임상 소견을 조사하고 추적 관찰을 시행하였다. 결 과 : 연구 기간 동안 ABR 검사를 받은 환아는 474명으로 총 입원아의 54.0%였고, 검사를 받은 신생아의 13.5%인 64명이 ABR 검사에 이상 소견을 보였다. 이들 64명의 귀 128례의 청력 소실의 양상은 편측 정상이 37례(28.9%)이고 경증, 중등도, 중증 및 초중증 청력 소실이 각각 43례(33.6%), 36례(28.1%), 2례(1.6%) 및 10례(7.8%)로 중증 이상의 청력 소실 빈도는 9.5%였다. 미숙아, 저출생 체중아 및 극소 저출생 체중아, 신생아 가사, 두부 안면 기형 및 amikacin의 15일 이상 사용이 ABR 비정상군에서 유의하게 많았다(P<0.05). 고빌리루빈혈증 환아에서 최고 빌리루빈 수치, 광선치료의 기간과 교환수혈의 시행 여부 모두 ABR 정상군과 비정상군 사이에 유의한 차이를 보이지 않았다. ABR 비정상군 중 15명에서 생후 $8.8{\pm}4.4$개월에 시행한 추적 ABR 검사는 80.0%에서 호전 혹은 정상화되었다. 결 론 : 신생아 집중치료실에 입원했던 신생아는 청력 소실의 위험이 높으므로 이에 대한 체계적이고 효과적인 청력 평가와 관리가 필요하다.

Ebstein 심기형 수술 1례[Plication 및 삼첨판막 이식예] (Ebstein`S Anomaly: A Case Report of Plication and Tricuspid Valve Replacement)

  • 송명근
    • Journal of Chest Surgery
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    • 제11권3호
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    • pp.342-347
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    • 1978
  • A 8 year old male was admitted to the Department of Thoracic Surgery, Korea University Hospital on June 22, 1978. The chief complaints were cyanosis and exertional dyspnea since at birth. EKG shows BVH and dextrocardia, phonocardiogram revealed the accentuation of second heart sound in aortic area. Echocardiogram from the left ventricle to the base of the heart, there is a discontinuity between the ventricular septum and the anterior aortic margin with a large aortic root & aortic overriding. His cardiac catheterization data and cardiac angiogram shows situs inversus totalis, dextrocardia, right aortic arch, large ventricular septal defect etc., and finally diagnosed Truncus Arteriosus. Edwards type IV with retrograde aortogram and selective bronchial angiogram. This is the first operative case reported as Rastelli operation for Truncus Arteriosus type IV in the literatures in Korea. Authors have experienced I case of Truncus Arteriosus, Edward type IV and Rastelli operation with Dacron Arterial Conduit Graft under cardiopulmonary bypass on July 3, 1978. The procedures were as follows; 2] Cardiopulmonary bypass: Origin of bronchial arteries excised from descending aorta bilaterally; defects in aorta closed. 2] Horizontal incision made high in right ventricle. 2] Ventricular septal defect [Kirklin type I+II] closed with Teflon patch. 4] Bifurcated dacron arterial graft with pericardial monocusp sutured to the bilateral pulmonary arteries. [Diameter 9 mm: Length 7 cm]. 5] Proximal end of the conduit graft anastomosed to right ventricle. [Diameter 19 mm: Length 5 cm]..Total perfusion time was 220 min. The result of operation was poor due to anastomotic leakage and increased pulmonary vascular resistance resulting acute right heart failure. The patient was died on the operation table. Literatures were briefly reviewed.

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총동맥간 잔류증 [IV 형]Rastelli 수술 치험 보고 (Rastelli operation in Persistent Truncus Arteriosus, Type IV: A Case Report)

  • 김형묵
    • Journal of Chest Surgery
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    • 제11권3호
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    • pp.333-341
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    • 1978
  • A 8 year old male was admitted to the Department of Thoracic Surgery, Korea University Hospital on June 22, 1978. The chief complaints were cyanosis and exertional dyspnea since at birth. EKG shows BVH and dextrocardia, phonocardiogram revealed the accentuation of second heart sound in aortic area. Echocardiogram from the left ventricle to the base of the heart, there is a discontinuity between the ventricular septum and the anterior aortic margin with a large aortic root & aortic overriding. His cardiac catheterization data and cardiac angiogram shows situs inversus totalis, dextrocardia, right aortic arch, large ventricular septal defect etc., and finally diagnosed Truncus Arteriosus. Edwards type IV with retrograde aortogram and selective bronchial angiogram. This is the first operative case reported as Rastelli operation for Truncus Arteriosus type IV in the literatures in Korea. Authors have experienced I case of Truncus Arteriosus, Edward type IV and Rastelli operation with Dacron Arterial Conduit Graft under cardiopulmonary bypass on July 3, 1978. The procedures were as follows; 2] Cardiopulmonary bypass: Origin of bronchial arteries excised from descending aorta bilaterally; defects in aorta closed. 2] Horizontal incision made high in right ventricle. 2] Ventricular septal defect [Kirklin type I+II] closed with Teflon patch. 4] Bifurcated dacron arterial graft with pericardial monocusp sutured to the bilateral pulmonary arteries. [Diameter 9 mm: Length 7 cm]. 5] Proximal end of the conduit graft anastomosed to right ventricle. [Diameter 19 mm: Length 5 cm]..Total perfusion time was 220 min. The result of operation was poor due to anastomotic leakage and increased pulmonary vascular resistance resulting acute right heart failure. The patient was died on the operation table. Literatures were briefly reviewed.

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Growth Rates of Transgenic Mice Containing Growth Hormone Receptor Gene

  • Kim, H. J;K. Naruse;S. M. Chang;K. S. Im;Lee, S. H.;Park, C. S.;D. I. Jin
    • 한국가축번식학회지
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    • 제27권4호
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    • pp.333-338
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    • 2003
  • Transgenic mice containing GH Receptor (GHR) gene fused to metallothionein promoter were analyzed to evaluate effect of GHR expression on growth in vivo. Three founder mice lines contained copies of GHR transgene and transmitted these genes into F$_1$ and F$_2$ progenies. The mRNA expression of transgene was identified using RT-PCR with GHR genes in tissues. To analyze the effects of transgenes on growth performance, body weights of pups were measured at 4, 10 and 14 weeks after birth. The body weight of transgenic mice was higher compared with that of non-transgenic control mice regardless of sex (P<0.05). Body weights between transgenic and non-transgenic mice were increased with aging. Overall, GHR transgenic mice tended to grow about 10 to 15 % faster than non-transgenic mice without any pathological defects.