• 대한유전성대사질환학회지
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• 제5권1호
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• pp.94-107
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• 2005

Prenatal diagnosis (PND) such as amniocentesis or chorionic villi sampling has been widely used in order to prevent the birth of babies with defects especially in families with single gene disorderor chromosomal abnormalities. Preimplantation genetic diagnosis (PGD) has already become an alternative to traditional PND. Indications for PGD have expanded beyond those practices in PND (chromosomal abnormalities, single gene defects), such as late-onset diseases with genetic predisposition, and HLA typing for stem cell transplantation to affected sibling. After in vitro fertilization, the biopsied blastomere from the embryo is analyzed for single gene defect or chromosomal abnormality. The unaffected embryos are selected for transfer to the uterine cavity. Therefore, PGD has an advantage over PND as it can avoid the risk of pregnancy termination. In this review, PGD will be introduced and application of PGD in inborn error metabolic disorder will be discussed.

• Molecules and Cells
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• 제38권12호
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• pp.1029-1036
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• 2015

Appropriate vessel development and its coordinated function is essential for proper embryogenesis and homeostasis in the adult. Defects in vessels cause birth defects and are an important etiology of diseases such as cardiovascular disease, tumor and diabetes retinopathy. The accumulative data indicate that ETV2, an ETS transcription factor, performs a potent and indispensable function in mediating vessel development. This review discusses the recent progress of the study of ETV2 with special focus on its regulatory mechanisms and cell fate determining role in developing mouse embryos as well as somatic cells.

• Neonatal Medicine
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• 제28권1호
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• pp.48-52
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• 2021

Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by skin defects involving the epidermis, dermis, subcutaneous tissue, bone, and sometimes dura. It commonly affects the scalp in approximately 70% of cases, but the neck, trunk, and the extremities can also be affected. ACC can occur either as an isolated condition or associated with other anomalies and congenital syndromes, and it can be acquired either genetically or sporadically. Morbidity and mortality are associated with the defects of skull bone, dura, and other multiple anomalies. We herein report the case of a female infant, with a large scalp defect accompanied by a skull defect noted at birth, who developed mental retardation in the preschool years.

• 한국독성학회:학술대회논문집
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• 한국독성학회 2004년도 KSOT/KEMS fall annual meeting
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• pp.19-20
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• 2004

• Clinical and Experimental Pediatrics
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• 제52권4호
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• pp.481-487
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• 2009

목 적 : 본 연구는 단일 기관에서 혈역학적으로 의미 있는 선천성 심기형을 가진 극소 저체중 출생아의 임상경과와 치료성적 및 예후 인자를 알아보고자 하였다. 방 법 : 1994년 11월부터 2007년 12월까지 13년간 삼성서울병원 신생아 집중치료실에 입원하였던 출생 체중 1,500 g 미만의 극소 저체중 출생아 1,098명을 대상으로 의무기록을 후향적으로 조사하였다. 선천성 심기형을 가진 대상아 33명의 임상경과, 합병증, 예후를 조사하였고 이들을 대조군 1,065명과 비교하였다. 결 과 : 총 극소 저체중 출생아 1,098명 중 33명(3%)에서 선천성 심기형이 있었으며, 이들 중 7명(21%)에서 선천기형 및 염색체 이상을 동반하였다. 심기형 종류로는 심실 중격 결손이 21명(64%)으로 가장 많았다. 자궁 내 성장 지연은 심기형군이 대조군에 비해 높았으나(34% vs. 20%), 재태기간, 출생체중, 신생아 호흡 곤란 증후군, 기관지폐 형성 이상, 괴사성 장염, 뇌실내 출혈, 그리고 낭종성 뇌실주위 백질 연화증의 빈도는 심기형군과 대조군 사이에 차이가 없었다. 심장수술은 단순 심기형에서 4명(19%), 복합 심기형에서 9명(75%)에게 시행되었고, 9명(69%)이 다단계 수술을, 10명(77%)은 조기 중재시술을 받았다. 심기형군의 사망률은 대조군에 비해 증가되어 있었고(27% vs. 16%), 특히 염색체 이상 및 다발성 기형을 동반한 경우에만 증가되었고(86% vs. 11%), 그 외 단순, 복합 심기형 여부(19% vs. 42%)와는 상관관계가 없었다. 결 론 : 극소 저체중 출생아에서 발생한 선천성 심기형의 예후는 심기형 자체의 복합성 보다는 동반된 선천 기형 및 염색체 이상이 결정한다.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제38권
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• pp.43.1-43.4
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• 2016

Background: Supernumerary nostril is a congenital anomaly that contains additional nostril with or without accessory cartilage. These rare congenital nasal deformities result from embryological defects. Since 1906, Lindsay (Trans Pathol Soc Lond. 57:329-330, 1906) has published the first research of bilateral supernumerary nostrils, and only 34 cases have been reported so far in the English literature. Case presentation: A 1-year-old female baby was brought to our department group for the treatment of an accessory opening above the left nostril which had been presented since her birth. Medical history was non-specific and her birth was normal. The size of a supernumerary nostril was about 0.2 cm diameter and connected to the left nostril. The right one was normal. Minimal procedure was operated for the anomaly. After 1 year, rhinoplasty was performed for the nostril asymmetry. Conclusions: At 1 year follow-up, the functional and cosmetic result was satisfactory. In this case, it is important that we have early preoperative diagnosis. Also, it is desirable that we should perform a corrective surgery as soon as possible for the patient's psychosocial growth.

• 한국동물생명공학회지
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• 제34권3호
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• pp.253-258
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• 2019

A female English bulldog was gave birth two neonates by cesarean section on the sixty one days after mating, but both neonates were died soon after birth. The bodies of neonates were diagnosed using radiography, ultrasonography, computed tomography and necropsy immediately after death. Both neonates had caudal regression syndrome, butterfly vertebra, hydrocephalus, umbilical hernia, cleft palate and bow-legged hind-limb. At necropsy, neonates had mild fetal anasarca, cleft lip and the skull was remained non-union. At thoracic cavity, only three ribs and thoracic spines were existed and patent ductus arteriosus was found. At abnormal cavity, the renal ectopia was found with abnormal morphology. In the present case, those English bulldog neonates with multiple congenital malformation syndromes seriously suffered vertebral column anomalies and that may induced by neural tube defects in during embryonic period. To prevent congenital malformation occurring in English bulldog, further in depth studies are needed for the breed specific genetic diversity and for the reason of behind genetic abnormality in these breed.

• Journal of Chest Surgery
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• 제36권10호
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• pp.766-771
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• 2003

저체중 출생아는 선천성 심장 기형의 수술 시 위험요소가 많은 것으로 알려져 있으며, 동맥간은 매우 불량한 자연경과를 갖고 있는 비교적 희귀한 심장기형이다. 제태기간 32주의 생후 13일된, 수술 당시체중 1.5 kg이었던 저체중 조산아에서 우심실 유출로 재건에 무판막 자가심낭도관을 사용하여 동맥간을 성공적으로 완전교정하고 술 후 약 20개월간의 양호한 추적결과를 경험하였기에 보고하는 바이다.

• 여성건강간호학회지
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• 제6권4호
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• pp.549-565
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• 2000

Comprehensive review of the literature was conducted to determine 1) selected risk factors and its impact that affect pregnancy outcome such as smoking, alcohol consumption, and substance abuse 2) these factors can facilitate future strategies for health promotion and prevention for both pregnant women and fetus. Review of literature were extracted from searching MEDLINE(1966 - Oct. 2000). CINAHL (1982 - Oct. 2000) and the domestic literature. The following factors were identified: 1. The effects of risk behaviors on pregnancy. ${\cdot}$Maternal smoking was associated with the occurrence of premature or LBW delivery, fetal growth retardation, extremities defects, heart defects and sudden infant death syndrome. ${\cdot}$Maternal alcohol consumption was associated with spontaneous abortion, premature or LBW delivery, morphologic/neurologic problems, especially fetal alcohol syndrome. ${\cdot}$Heroin was associated with withdrawal after birth in which were born to heroine addicts for gestational age and lung maturation in animal studies. ${\cdot}$Cocaine was associated with spontaneous abortion, abruptio placenta and a poor response to environmental stimuli. ${\cdot}$So far, the effects of caffeine on pregnancy was controversial, but severe caffeine consumption was associated with premature or LBW delivery, spontaneous abortion, still birth and dystocia. 2. Intervention methods and its effects identified were as follows ${\cdot}$Conducted intervention for smoking, alcohol and drug consumption were single or combined. ${\cdot}$Intervention methods were counseling, phone contact, mailing, use of educational videotape, booklet, support person and alternatives such as nicotine patch. ${\cdot}$The interventions increased the rates of smoking cessation during pregnancy and awareness of the risk of drug consumption, and decreased amount of alcohol consumption. ${\cdot}$The intervention outcome found positive effect on birth weight and length. 3. Our recommendations were as follows ${\cdot}$The personal and social cognition should be enhanced through education and the mass media. ${\cdot}$It's necessary to educate and give information of preconceptional care, planned pregnancy and early prenatal care for optimal pregnancy outcome. ${\cdot}$It's necessary to develop comprehensive assessment tool which is reliable and valid on smoking, alcohol consumption and substance abuse to identify supportive or interventional program.

• 한국동물번식학회:학술대회논문집
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• 한국동물번식학회 2003년도 학술발표대회 발표논문초록집
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• pp.18-18
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• 2003

In human, sudden infant death syndrome(SIDS) is synonyms for the sudden, unexpected and unexplained death of an infant. The incidence of SIDS has been estimated to be from 1 to 3%. Cloning has a relatively high rate of late abortion and early postnatal death, particularly when somatic cells are used as donors of nuclei and rates as high as 40 to 70% have been reported. However, the mechanisms for SIDS in cloned animals are not known yet. To date, few reports provide detailed information regarding phenotypic abnormality of cloned pigs. In this study, most of the cloned piglets were alive at term and readily recovered respiration. However, approximately 82% of male cloned piglets (81/22) died within a week after birth. Significant findings from histological examinations showed that 42% of somatic cloned male piglets died earlier than somatic cloned female piglets, most probably due to severe congestion of lung and liver or neutrophilic inflammation in brain, which indicates that unexpected phenotypes can appear as a result of somatic cell cloning. No anatomical defects in cloned female piglets were detected, but three of the piglets had died by diarrhea due to bacterial infection within 15 days after birth. Although most of male cloned piglets can be born normal in terms of gross anatomy, they develop phenotypic anomalies that include leydig cell hypoplasia and growth retardation post-delivery under adverse fetal environment and depigmentation of hair- and skin-color form puberty onset. This may provide a mechanism for development of multiple organ system failure in some cloned piglets. Th birth weights of male cloned pig in comparison with those of female cloned piglets are significantly reduced(0.8 vs 1.4kg) and showed longer gestational day(120 vs 114). In conclusion, brain meningitis and hepatopneumonic congestion are a major risk factor for SIDS and such pregnancy in cloned animals requires close and intensive antenatal monitoring.