• Proceedings of the Zoological Society Korea Conference
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• 2003.08a
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• pp.197.2-197
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• 2003

No Abstract, See Full Text

• Investigative Magnetic Resonance Imaging
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• v.16 no.1
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• pp.76-80
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• 2012

Eosinophilic infiltration in the liver is not a rare disease and it is usually presented as multiple, small, ill defined, oval or round, low attenuated lesions on portal phase of computed tomography. We reported case of hepatic eosinophilic infiltration in the liver, as an unusual manifestation of segmental involvement.

• Neonatal Medicine
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• v.18 no.2
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• pp.374-378
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• 2011

Noonan syndrome is an autosomal dominant disorder characterized by typical facial features, congenital heart disease, and short stature. Diagnosis is difficult only with clinical symptoms and it is recently confirmed with gene study. The genotype-phenotype correlations have been reported. We report a newborn with KRAS gene mutation. This is the second report of case with KRAS gene mutation in Korea. So we hope this case will be a help to diagnosis and treatment of Noonan syndrome from birth.

• Journal of Chest Surgery
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• v.33 no.1
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• pp.85-87
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• 2000

Patent ductus arteriosus(PDA) is a common congenital heart disease encountered in premature neonates infants and children. Patent ductus arteriosus was the first surgically managed congenital heart disease,. Classic surgical interruption of patent ducturs arteriosus was partially replaced by a transcatheter endovascular closure, After a 5-7 mm video-assisted thoracoscopic interruption of the patent ductus arteriosus first applied in 1991, this minimally invasive technique came to be used in many centers, Video-assisted thoracoscopic interruption of the patent ductus arteriosus is feasible in low-weight infants whereas transcatheter endovascular closure of the ductus is usually not possible. We experienced successful outcome for the treatment of patent ductus arteriosus with 2 mm video-assisted thoracoscopic titanium clipping, We believed that this technique is a simple safe and rapid method for closure of the patent arteriosus.

• Archives of Plastic Surgery
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• v.32 no.5
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• pp.663-666
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• 2005

Mandible angle ostectomy is the most widely-operated facial contour surgery. We experienced a rare case of necrotizing fasciitis of the lower leg following mandible angle ostectomy. A 20 years old female visited our department 5 days after mandible angle ostectomy. At the time, she was diagnosed as sepsis and on her 2nd admission day, she was diagnosed as necrotizing fasciitis on her left leg. She was treated by fasciotomy and necrotized tissue removal. Necrotizing fasciitis is a rare complication of any kinds of operation but once it develops, it causes fatal results, especially to cosmetic surgeries. Early diagnosis and aggressive operation is known as only treatment for the disease.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.105-109
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• 2021

Tetrasomy 18p is a genetic syndrome caused by an isochromosome consisting of two copies of the short arm of chromosome 18. Clinically, pediatric cases of tetrasomy 18p manifest with global developmental delay, similar to most cases of chromosomal abnormality. In addition, it causes various symptoms including abnormal muscle tone. We report a case of an infant with global developmental delay and remarkable spasticity, the typical phenotype of bilateral spastic cerebral palsy. However, she had a subtle anomaly in her face, and brain magnetic resonance imaging (MRI) findings were inconsistent with her strong upper motor neuron signs. Upon genetic testing, she was determined to have an 18p isochromosome, confirming de novo non-mosaic tetrasomy 18p. Cerebral palsy is a neurological disorder that includes developmental delay caused by a non-progressive lesion in the developing brain. During diagnostic workup in patients with cerebral palsy, genetic testing should be considered when there are minor physical anomalies or equivocal MRI findings.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.64-71
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• 2007

Purpose : The purpose of this study was to evaluate the clinical utility of rapid detection of Down syndrome and Edward syndrome by Interphase Fluorescence in Situ Hybridization (FISH) analysis. Methods : Aretrospective study in 309 cases of amniotic fluid samples, analysed by interphase FISH with DNA probes specific to chromosome 18 and 21, was performed. All FISH results w ere compared with conventional cytogenetic karyotypings. Results : The results were considered as informative and they were obtained within 48 hrs. A case of Down syndrome and a case of Edward syndrome were diagnosed by FISH and confirmed by subsequent cytogenetic analysis. In 12 cases with normal FISH results, the cytogenetic analysis showed a case of partial trisomy 22, three cases of sex chromosomal aneuploidy, two cases of mosaicism, two cases of microdeletion, and four cases of structural rearrangement. Conclusion : FISH is a rapid and effective diagnostic method, which can be used as an adjunctive test to cytogenetic analysis, for prenatal identification of chromosome aneuploidies. For the more genome-wide screening with variety of probes, the technique of FISH is both expensive and labor-intensive.

• Journal of Genetic Medicine
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• v.11 no.1
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• pp.16-21
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• 2014

A 31-year-old woman, who was pregnant with twins, underwent chorionic villus sampling because of increased nuchal translucency in one of the fetuses. Cytogenetic analysis showed a normal karyotype in the fetus with increased nuchal translucency. However, the other fetus, with normal nuchal translucency, had a derivative X chromosome (der(X)). For further analysis, fluorescence in situ hybridization (FISH) and additional molecular studies including fragile X analysis were performed. FISH analysis confirmed that the Y chromosome was the origin of extra segment of the der(X). The X-chromosome breakpoint was determined to be at Xq27 by FMR1 CGG repeat analysis, and the Y-chromosome breakpoint was determined to be at Yq11.23 by the Y chromosome microdeletion study. To predict the fetal outcome, the X-inactivation pattern was examined, and it revealed non-random X inactivation of the der(X). To the best of our knowledge, the identification of an unbalanced Xq;Yq translocation at prenatal diagnosis has never been reported. This study was performed to identify precise breakpoints and the X-inactivation pattern as well as to provide the parents with appropriate genetic counseling.

• Reproductive and Developmental Biology
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• v.33 no.4
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• pp.263-271
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• 2009

Cardiovascular diseases (CVDs) are one of the most cause of death around the world and fields of interest for cardiac stem cells. Also, current use of terminally differentiated adult cardiomyocytes for CVDs has limited regenerative capacity therefore any significant cell loss may result in the development of progressive heart failure. Human embryonic stem cells (hESCs) derived from blastocyst-stage embryos spontaneously have ability to differentiate via embryo-like aggregates (endoderm, ectoderm and mesoderm) in vitro into various cell types including cardiomyocyte. However, most effective molecule or optimized condition which can induce cardiac differentiation of hESCs is rarely studied. In this study, we developed both spontaneous and inductive cardiomyocyte-like cells differentiation from hESCs by treatment of induced-factors, 5-azacytidine, BMP-4 and cardiogenol C. On the one hand, spontaneous and inductive cardiomyocyte-like cells showed that cardiac markers are expressed for further analysis by RT-PCR and immunocytochemistry. Interestingly, BMP-4 greatly improved homogeneous population of the cardiomyocyte-like cells from hESCs CHA15 and H09. In conclusion, we verified that spontaneously differentiated cells showed cardiac specific markers which characterize cardiac cells, treated extrinsic factors can manage cellular signals and found that hESCs can undergo differentiation into cardiomyocytes better than spontaneous group. This finding offers an insight into the inductive factor of differentiated cardiomyocytes and provides some helpful information that may offer the potential of cardiomyocytes derived from hESCs using extrinsic factors.

• Clinical and Experimental Reproductive Medicine
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• v.27 no.2
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• pp.179-182
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• 2000

This study was performed to determine whether the $LH{\beta}$-subunit gene missense mutation is present in Korean infertile patients with 46,XX POF women. The variants of $LH{\beta}$ exon 2 (Trp 8Arg; TGG to CGG and Ile15Thr; ATC to ACC) were studied in forty-four 46,XX idiopathic POF and 54 nonpregnant women. The $LH{\beta}$ exon 2 variants were more frequent in POF patients (20.5%) than nonpregnant (16.7%) women (p>0.05). POF patients with the variant was slightly higher than nonpregnant women with the variant.