• Title/Summary/Keyword: birth defects

Search Result 90, Processing Time 0.024 seconds

Development of a portable automatic hearing screener (휴대용 자동청력진단기기 개발)

  • Noh, Hyung-Wook;Lee, Tak-Hyung;Kim, Jong-Wook;Yang, Dong-In;Cha, Eun-Jong;Kim, Deok-Won
    • Proceedings of the IEEK Conference
    • /
    • 2009.05a
    • /
    • pp.129-131
    • /
    • 2009
  • Hearing loss is one of the most common birth defects among infants. Most hearing-impaired children are not diagnosed until one to three years of age, which is too late to treat for normal speech and language development. If a hearing impairment is identified and treated in its early stage, child's speech and language skills could be comparable to his or her normal-hearing peers. In this study, we applied the 'Fsp' method to distinguish between normal and impaired hearing. We have developed a battery-operated portable A - ABR(automated auditory brain stem response) system that automatically detects hearing impairment for neonates or infants in a nursery room, as well as in a sound-proof room. We partially validated the accuracy of the system in five normal-hearing adults.

  • PDF

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

  • Baek, Jin-A
    • Korean Journal of Cleft Lip And Palate
    • /
    • v.11 no.2
    • /
    • pp.65-70
    • /
    • 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.

  • PDF

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
    • /
    • v.43 no.2
    • /
    • pp.133-138
    • /
    • 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
    • /
    • v.50 no.4
    • /
    • pp.242-246
    • /
    • 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
    • /
    • v.1 no.3
    • /
    • pp.163-174
    • /
    • 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.

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

  • Jung, Haeng-Gyu;Kang, Kyung-Hwa;Lee, Yong-Tae
    • Journal of Physiology & Pathology in Korean Medicine
    • /
    • v.21 no.2
    • /
    • pp.561-566
    • /
    • 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.

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

  • Song, Seung Han;Kang, Nak Heon
    • Archives of Plastic Surgery
    • /
    • v.34 no.4
    • /
    • pp.528-530
    • /
    • 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.

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

  • Choi, Hee-Joung;Lee, Tae-ho;Oh, Ki-Won;Kim, Heng-Mi
    • Clinical and Experimental Pediatrics
    • /
    • v.49 no.12
    • /
    • pp.1301-1307
    • /
    • 2006
  • Purpose : Hearing loss is one of the most common birth defects, and early detection and intervention positively impact language/speech and cognitive development. It has been reported that NICU graduates have a high incidence of hearing loss. So we investigated the incidence, risk factors and clinical outcome of hearing loss in NICU graduates. Methods : This study involved neonatal auditory brainstem response (ABR) testing of newborn infants who graduated from the NICU of Kyungpook National University Hospital during a 3-year period (between July 2002 and June 2005) and subsequent follow-up of these infants. Results : ABR evaluations were performed on 474 infants. Of these infants, 64 showed abnormal ABR (13.5 percent). Of 128 ears from these 64 infants, two ears (1.6 percent) and 10 ears (7.8 percent) were classified as severe and profound hearing loss, respectively. The infants with abnormal ABR had higher incidence of prematurity, low birth weight, very low birth weight, neonatal asphyxia, cranio-facial malformation and amikacin treatment over 15 days (P<0.05). In infants with hyperbilirubinemia, the peak level of serum bilirubin, duration of phototherapy and exchange transfusion were not associated with the higher incidence of hearing loss. Follow-up ABR evaluation was performed on 15 infants with abnormal ABR at $8.8{\pm}4.4months$. In follow-up ABR, 80.0% showed improvement or normalization of threshold sensitivity. Conclusion : NICU graduates exhibit high risk for hearing loss. Systemic and effective hearing assessment program is needed for these high risk infants.

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

  • 송명근
    • Journal of Chest Surgery
    • /
    • v.11 no.3
    • /
    • pp.342-347
    • /
    • 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.

  • PDF

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

  • 김형묵
    • Journal of Chest Surgery
    • /
    • v.11 no.3
    • /
    • pp.333-341
    • /
    • 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.

  • PDF