• Journal of the korean academy of Pediatric Dentistry
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• v.35 no.2
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• pp.319-323
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• 2008

Edward's syndrome is a genetic disorder of 18th chromosomal trisomy. Main clinical features of this syndrome include systemic conditions, such as mental retardation, growth retardation, dyspnea, congenital heart disease, and orthopedic disorders, such as flexion deformity and rocker-bottom feet. The characteristics of fetal abnormality are hydramnios, small placenta, common umbilical artery. Infants with Edward's syndrome have very low survival rate. Almost half of them die during fetal stage. Fifty percent of them survive 2 months, and 5 to 10 percent of them survive about 1 year. A 3-year and 7 month old girl visited our dental hospital for the treatment of dental caries. Considering her systemic disease, low body weight, medical history of cardiac surgery, and difficulty in airway management, dental procedure was performed under general anesthesia. We report this case with review of literatures.

• Reproductive and Developmental Biology
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• v.36 no.1
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• pp.21-26
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• 2012

Suspension culture is a useful tool for culturing embryonic stem (ES) cells in large-scale, but the stability of pluripotency and karyotype has to be maintained $in$ $vitro$ for clinical application. Therefore, we investigated whether the chromosomal abnormality of ES cells was induced in suspension culture or not. The ES cells were cultured in suspension as a form of aggregate with or without mouse embryonic fibroblasts (MEFs), and 0 or 1,000 U/ml leukemia inhibitory factor (LIF) was treated to suspended ES cells. After culturing ES cells in suspension, their karyotype, DNA content, and properties of pluripotency and differentiation were evaluated. As a result, the formation of tetraploid ES cell population was significantly increased in suspension culture in which ES cells were co-cultured with both MEFs and LIF. Tetraploid ES cell population was also generated when ES cells were cultured alone in suspension regardless of the existence of LIF. On the other hand, the formation of tetraploid ES cell population was not detected in LIF-free condition, in which MEFs were included. The origin of tetraploid ES cell population was turned out to be E14 ES cells and not MEFs by microsatellite analysis and the basic properties of them were still maintained despite ploidy-conversion to tetraploidy. Furthermore, we identified the ploidy shift from tetraploidy to near-triploidy as tetraploid ES cells were differentiated spontaneously. From these results, we demonstrated that suspension culture system could induce ploidy-conversion generating tetraploid ES cell population. Moreover, optimization of suspension culture system may make possible mass-production of ES cells.

• Clinical and Experimental Reproductive Medicine
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• v.25 no.2
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• pp.135-140
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• 1998

It was reported that the etiologies of recurrent spontaneous abortion are immunologic factors, endocrinologic problems, anatomical abnormalities, genetic abnormalities, infection, and unexplained factors. Among those etiologic factors, genetic abnormalities occur in about 5% of the couples who experience recurrent spontaneous abortions, and most common parental chromosomal abnormality contributing to recurrent abortion is balanced translocation. The advent of in vitro fertilization (IVF), the development of skills associated with the handling of human embryo, and an explosion of knowledge in molecular biology have opened the possibility of early diagnosis of genetic disease in preimplantation embryos. Therefore preimplantation genetic diagnosis (PGD) is indicated for couples, infertile or not, at risk of transmitting a genetic disease. A case of successful pregnancy and term delivery by PGD using fluorescence in situ hybridization (FISH) technique in patient with recurrent spontaneous abortion due to balanced translocation is presented with brief review of literatures.

• Archives of Plastic Surgery
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• v.34 no.4
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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.

• Journal of Life Science
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• v.28 no.5
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• pp.605-614
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• 2018

Bee pollen has an outer wall which is resistant to both acidic and basic solutions and even the digestive enzymes in the gastrointestinal tract. Therefore, the oral bioavailability of bee pollen is only 10-15%. A previous study reported on wet-grinding technology which increased the extraction of active ingredients from bee pollen by 11 times. This study was designed to investigate the safety of wet-ground bee pollen. First, a single dose of wet-ground bee pollen was tested in both rats and beagle dogs at dosages of 5, 10, and 20 g/kg and 1.5, 3, and 6 g/kg, respectively. In rats, compound-colored stools were found in those administered 10 g/kg or more of wet-ground bee pollen. In beagle dogs, 6 g/kg of wet-ground bee pollen induced diarrhea in one male for four hours. However, no obvious clinical signs were found through the end of the experiment in rats and beagle dogs. In addition, no histological abnormality was found in all animals. The data indicates that a single dose of up to 20 g/kg of wet-ground bee pollen is safe. Next, the genetic toxicity of nano-sized bee pollen was tested. This study employed a bacterial reverse mutation test, a micronucleus assay, and a chromosomal aberration assay. In the micronucleus assay, there was no genetic toxicity up to the dosage of 2 g/kg. There was also no genetic toxicity in the bacterial reverse mutation test and chromosomal aberration assay. This data provides important information in developing nano-sized bee pollen into more advanced functional foods and herbal medicines.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.14 no.1
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• pp.123-127
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• 2003

Cornelia de Lange syndrome is a dysmorphogenic disorder characterized by multiple congenital abnormalities, mental retardation, growth retardation and neurodevelopmental abnormalities. Diagnosis for the Cornelia de Lange syndrome is dependent on the clinical observation because neither definite biological marker nor definite chromosomal abnormality have been investigated. Clinical observation is important for the diagnosis, so we report a case of Corenelia de Lange syndrome with mental retardation and autistic disorder. The patient is a 6-year old girl. Her motor development and language development have been delayed. She could say no meaningful word and understood simple command partially. She showed poor eye contact and poor emotional interaction. Social interaction was impaired and she Showed stereotypic behaviors. Thus we diagnosed her as mental retardation with autistic disorder. She had vesicoureteral reflux, frequent upper respiratory infection and pneumonia. She had experienced febrile convulsions 4 times. She had short stature, confluent eyebrows, long eyelashes, and upturned nose with anteverted nostrils. She also showed low hairline and hypertrichosis in body and extremities. Her finger was short. In this case, we diagnosed Cornelia de Lange syndrome by her characteristic face, hypertrichosis and medical and behavioral problems that were frequently showed in this syndrome.

• Journal of Embryo Transfer
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• v.16 no.2
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• pp.107-115
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• 2001

Development of effective activation protocols is of great importance for improving the success of cloning and subsequent transgenic. Three methods for oocyte activation, including 5$\mu$M ionomycin (5 min) alone, ionomycin + 1.9 mM 6-dimetylaminopurine (DMAP, 3 hrs) and ionomycin + 10 $\mu\textrm{g}$/ml cycloheximide (CHX, 3 hrs) were compared for their effects of pronuclei (PN) formation, development, developmental velocity and ploidy of parthenotes to IVF control in bovine. In group of ionomycin + DMAP, the oocytes having more 3PN were significantly (P<0.05) higher than in groups of ionomycin alone and of ionomycin + CHX (45.5% vs. 0 and 0%, respectively). Activation with the ionomycin alone, ionomycin + DMAP and ionomycin + CHX resulted in cleavage rates of 30, 85.5 and 57.9%, respectively. The blastocysts rate of parthenotes activated by ionomycin + DMAP treatment was significantly higher (12.3%. p<0.05) than those of other treated groups. Chromosome analysis shows that ionomycin + DMAP treatment greatly enhances the incidence of chromosomal abnormality of the parthenotes. From the results, we may conclude that DMAP treatment to the oocytes accelerates developmental velocity resulting in both the higher incidence of chromosome abnormality and of PN formation, and strongly suggest that CHX combined with ionomycin is better than DMAP for the purpose of successful nuclear transplantation. Developmental velocity of parthenotes activated by ionomycin + DMAP treatment was significantly (P<0.05) faster than others.

• Journal of Genetic Medicine
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• v.7 no.2
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• pp.125-132
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• 2010

Purpose: Preimplantation genetic diagnosis (PGD), also known as embryo screening, is a pre-pregnancy technique used to identify genetic defects in embryos created through in vitro fertilization. PGD is considered a means of prenatal diagnosis of genetic abnormalities. PGD is used when one or both genetic parents has a known genetic abnormality; testing is performed on an embryo to determine if it also carries the genetic abnormality. The main advantage of PGD is the avoidance of selective pregnancy termination as it imparts a high likelihood that the baby will be free of the disease under consideration. The application of PGD to genetic practices, reproductive medicine, and genetic counseling is becoming the key component of fertility practice because of the need to develop a custom PGD design for each couple. Materials and Methods: In this study, a survey on the contents of genetic counseling in PGD was carried out via direct contact or e-mail with the patients and specialists who had experienced PGD during the three months from February to April 2010. Results: A total of 91 persons including 60 patients, 49 of whom had a chromosomal disorder and 11 of whom had a single gene disorder, and 31 PGD specialists responded to the survey. Analysis of the survey results revealed that all respondents were well aware of the importance of genetic counseling in all steps of PGD including planning, operation, and follow-up. The patient group responded that the possibility of unexpected results (51.7%), genetic risk assessment and recurrence risk (46.7%), the reproduction options (46.7%), the procedure and limitation of PGD (43.3%) and the information of PGD technology (35.0%) should be included as a genetic counseling information. In detail, 51.7% of patients wanted to be counseled for the possibility of unexpected results and the recurrence risk, while 46.7% wanted to know their reproduction options (46.7%). Approximately 96.7% of specialists replied that a non-M.D. genetic counselor is necessary for effective and systematic genetic counseling in PGD because it is difficult for physicians to offer satisfying information to patients due to lack of counseling time and specific knowledge of the disorders. Conclusions: The information from the survey provides important insight into the overall present situation of genetic counseling for PGD in Korea. The survey results demonstrated that there is a general awareness that genetic counseling is essential for PGD, suggesting that appropriate genetic counseling may play a important role in the success of PGD. The establishment of genetic counseling guidelines for PGD may contribute to better planning and management strategies for PGD.

• Clinical and Experimental Pediatrics
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• v.52 no.6
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• pp.655-660
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• 2009

Purpose : To compare birth weight between infants with a single umbilical artery (SUA) and normal infants, investigate the associated anomalies of infants with SUA and isolated SUA (no abnormality of external appearance on birth, except SUA), and determine the prognosis of infants with isolated SUA. Methods : Live-born infants with SUA (n=59) detected by physical examination from among 15,193 live births in seven university hospitals in Korea between January 1, 2004, to August 1, 2007, were reviewed retrospectively, with 236 normal infants serving as the control group. Results : A statistical difference was observed between the groups in birth weight and in vitro fertilization. The incidence of infants with SUA was 0.37%. Congenital malformations were observed in 21 infants with cardiovascular (n=15, 25.4%), gastrointestinal (n=2, 3.4%), genitourinary (n=9, 15.3%), neuromusculoskeletal (n=6, 10.2%), central nervous system (n=1, 1.7%), chromosomal (n=1, 1.7%), and other (n=3, 5.1%) abnormalities. There were 49 (83.1%) infants with isolated SUA in this study population; among them, the associated congenital malformations were cardiovascular (n=6, 12.2%) and genitourinary (n=6, 12.2%) abnormalities. Two infants with cyanotic heart disease were operated and four infants with acyanotic heart disease showed improvements without any treatment. Six infants with genitourinary abnormalities on renal ultrasound had mild hydronephrosis without further consequences. Conclusion : The incidence of structural abnormalities in the cardiovascular and genitourinary systems is high and the genitourinary anomalies associated with isolated SUA have relatively good prognosis.

• Journal of Embryo Transfer
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• v.21 no.3
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• pp.169-175
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• 2006

The objective of this study was carried out to examine the polar body extrusion of in vitro matured porcine follicular oocytes as a non-invasive marker of oocyte quality to know the developmental competence in advance. The porcine oocytes matured for 48 hours were examined the polar body extrusion and some parts were stained. The examined oocytes were matured for additional $16{\sim}18$ hours and activated with 7% ethanol and cultured in $5{\mu}g/ml$ cytochalasin B for 5 hours for diploid formation. The treated oocytes were washed and cultured for 7 days. The polar body extrusion and degeneration rates were varied with $9.9{\sim}52.4%$ and $21.4{\sim}61.8%$ by repetition. The polar body extruded oocytes were shown the polar body chromosome and metaphase II plate by staining. However the non-extruded oocytes were shown expanded nucleus with 39.1%, premature chromosome condensation with 19.6%, metaphase I plate with 10.9 %, metaphase II with 13%, condensed chromatin with 6.5%, and absent nuclear material with 8.7%. The oocytes that were not examined for the polar body extrusion were cleaved 45.0%, and developed to blastocyst stage with 11.3%. In examined oocytes for polar body extrusion,. the polar body extruded oocytes were cleaved 94.2% and developed with 42.5%. This result suggests that discarding of the degenerating oocytes and oocytes that not extruded polar body will be effective for experiments of culturing effect in porcine embryos and embryo biotechnology.