• Clinical and Experimental Reproductive Medicine
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• v.43 no.2
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• pp.82-89
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• 2016

Objective: The long interspersed elements (LINE-1, L1s) are a group of genetic elements found in large numbers in the human genome that can translate into phenotype by controlling genes. Growing evidence supports the role of epigenetic in polycystic ovary syndrome (PCOS). The purpose of this study is to evaluate the DNA methylation levels in LINE-1 in a tissue-specific manner using cumulus cells from patients with PCOS compared with normal controls. Methods: The study included 19 patients with PCOS and 22 control patients who were undergoing controlled ovarian hyperstimulation. After oocyte retrieval, cumulus cells were extracted. LINE-1 DNA methylation levels were analysed by bisulfite treatment, polymerase chain reaction, and restriction enzyme digestion. The Connection Up- and Down-Regulation Expression Analysis of Microarrays software package was used to compare the gene regulatory functions of intragenic LINE-1. Results: The results showed higher LINE-1 DNA methylation levels in the cumulus cells of mature oocytes in PCOS patients, 79.14 (${\pm}2.66$) vs. 75.40 (${\pm}4.92$); p=0.004, but no difference in the methylation of cumulus cells in immature oocytes between PCOS and control patients, 70.33 (${\pm}4.79$) vs. 67.79 (${\pm}5.17$); p=0.155. However, LINE-1 DNA methylation levels were found to be higher in the cumulus cells of mature oocytes than in those of immature oocytes in both PCOS and control patients. Conclusion: These findings suggest that the epigenetic modification of LINE-1 DNA may play a role in regulating multiple gene expression that affects the pathophysiology and development of mature oocytes in PCOS.

• Journal of Biomedical Engineering Research
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• v.18 no.3
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• pp.233-241
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• 1997

The research on chromosomes is very significant in cytogenetics since genes of the chromosomes control revelation of the inheritance plasma. The human chromosome analysis is widely used to study leukemia, malignancy, radiation hazard, and mutagen dosimetry as well as various congenital anomalies such as Down's, Klinefelter's, Edward's, and Patau's syndrome. The framing and analysis of the chromosome karyogram, which requires specific cytogenetic knowledge is most important in this field. Many researches on automated chromosome karyotype analysis methods have been carried out, some of which produced commercial systems. However, there still remains much room to improve the accuracy of chromosome classification and to reduce the processing time in real clinic environments. In this paper, we proposed a hierarchical artificial neural network(HANN) to classify the chromosome karyotype. We extracted three or four chromosome morphological feature parameters such as centromeric index, relative length ratio, relative area ratio, and chromosome length by preprocessing from ten human chromosome images. The feature parameters of five human chromosome images were used to learn HANN and the rest of them were used to classify the chromosome images. The experiment results show that the chromosome classification error is reduced much more than that of the other researchers using less feature parameters.

• Journal of the korean academy of Pediatric Dentistry
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• v.33 no.3
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• pp.457-468
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• 2006

It is widely known that individuals with mental retardation (MR) and Down's syndrome (DS) often develop early onset periodontal diseases. In this study, the prevalence of periodontopathic bacteria in MR persons and DS patients was compared with normal persons. Plaque index and gingival index were measured. Five periodontopathic bacteria, Actinobacillus actinomycetemcomitans. Porphyromonas gingivalis, Tannerella forsythia, Treponema denticola, Fusobacterium nucleatum were surveyed in subgingival plaque samples by the polymerase chain reaction. Results : 1. Plaque index and gingival index were higher in MR persons group and DS patients group than normal persons group (p<0.05). 2. The prevalence of periodontopathic bacteria in normal persons group were lower than that of MR persons group and DS. Significant differences were observed in the prevalence of P. gingivalis, T. denticola and A. actinomycetemcomitans(P<0.05). 3. Prevalence of P. gingivalis(5.9%) at age 8-10 was lower than other ages in normal persons group, and its prevalence increased with age Prevalence of P. gingivalis, T. denticola and A. actinomycetemcomitans at MR persons group and DS patients group were higher than those of same ages of normal persons group. 4. Plaque index was associated with T. denticola and gingival index was associated with T. denticola and A. actinomycetemcomitans(P<0.05). These results suggested that plaque index, gingival index and prevalence of periodontopathic pathogens, especially P. gingivalis, T. denticola and A actinomycetemcomitans in DS patients group and MR persons group are higher than those of normal persons group.

• The Journal of Internal Korean Medicine
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• v.23 no.2
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• pp.280-285
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• 2002

Pruritus is [CHECK DEFN] itchy feeling of one's skin. We often face stroke patients who complain about Pruritus. They occasionally fail to fall asleep or have a secondary infection as a result of scratching. For these reasons, severe Pruritus brings down general condition and interferes with recovery. The causes of Pruritus are distributed to from skin diseases and from internal diseases. Especially among the skin diseases, Xerotic Eczema, which is called Senile Eczema causes the dry skin in the elderly, especially lower limb's extensor part. According to the epidemiology, 20% of the old have Xerotic Eczema. In oriental medicine, Pruritus is called Pungsoyang(風瘙痒), Pungyang(風痒), Yangpung(痒風), Sinyang(身痒). The cause of Pruritus is divided into two. One is endogenous factors and the other is exogenous factors. The former are deficiency of blood(血虛), blood fever(血熱), wind-heat due to internal damage(內傷風熱), damp-heat in the liver and gallbladder(肝膽濕熱), endogenous wind stirring in the liver(肝風內動), deticiency syndrome of the spleen(脾虛), deficiency of Yin of the liver and kidneys(肝腎陰虛) and deficiency of the Penetration and Conception Vessels(衝任不足). The latter are wind-cold due to exogenous affection(外感風寒) and wind-heat due to exogenous affection(外感風寒). We report two stroke patients who complained of severe Pruritus They were diagnosed as having Xerotic Eczema by a dermatologist. We regarded their Pruritus as blood fever(血熱) and wind-heat(風熱) and prescribed Sopung-San to these patients. These patients showed significant improvement.

• Advances in pediatric surgery
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• v.1 no.1
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• pp.68-72
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• 1995

Segmental dilatation of the colon is a very rare disease entity of unknown etiology and may mimic Hirschsprung's disease. It is characterized by dilatation of a segment of the colon of variable length with obstruction due to lack of peristalsis in a normally innervated intestine. Recently authors experienced a case of segmental dilatation of the sigmoid colon in a 6 month-old male, who presented with severe constipation, abdominal distention, and abdominal mass since 2 months of age. Down's syndrome and congenital nystagmus were associated. Barium enema demonstrated focal dilatation of the sigmoid colon, but the rectum and descending colon proximal t o the affected colon were of normal caliber. Rectal suction biopsy with acetylcholinesterase staining was normal and anorectal manometry showed normal rectosphincteric reflex. At operation, there was a massively dilated and hypertrophied sigmoid colon with increased tortuous serosal vessels, measuring 15 cm in length and 10 cm in width. Teniae coli were identifiable in the affected segment. Frozen section biopsies at the proximal, affected, and distal colon showed ganglion cells. Descending loop colostomy was constructed initially and segmental resection and end to end colocolostomy were carried out 3 months later. Final histologic examination showed 1) normal colonic mucosa with ganglion cells, 2) prominent submucosal fibrosis and marked muscular hypertrophy, 3) unremarkable acetylcholinesterase activity and immunohistochemical findings against S-100 protein. On 8 months follow-up, he has been doing well and moves bowels 1-2 times daily.

• Journal of radiological science and technology
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• v.26 no.1
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• pp.63-70
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• 2003

SMAS(Superior Mesenteric Artery Syndrome) is a disease caused by a chronic obstruction of the duodenum(transverse portion), which is hardly detectable. However, it is known that when the superior mesenteric artery and abdominal aorta form a narrow angle, that the transverse portion of the duodenum is pressed down between the superior mesenteric artery and the abdominal aorta, and that this can lead to obstruction of the duodenum. Measuring this angle is a complicated job using conventional angiography, and results often turns out to be inaccurate. In addition, no attempt has been made to determine the value of this angle in Koreans. In this study, we conducted abdominal CT angiography using MIP(maximum intensity projection) on patients with no clinical evidence of SMAS in order to determine the angle at which the superior mesenteric artery branches from the abdominal aorta by using PC based software(Rapidia ver. 1.2) for the image reconstruction. Accordingly, we found that the mean angle between the abdominal aorta and the superior mesenteric artery was $50.05{\pm}15.87^{\circ}$ on average, and that the angle in men($53.64{\pm}16.57^{\circ}$) is higher than in women($46.46{\pm}14.98^{\circ}$). We hope that the angles determined by our study will serve as an important indicator for detecting SMAS.

• Journal of Chest Surgery
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• v.24 no.2
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• pp.123-134
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• 1991

Twenty eight patients had undergone repair of an isolated complete atrioventricular septal defect between April 1986 and September 1990 in Seoul National University Children`s Hospital. The group comprised 13 male and 15 female patients. They ranged in age from 2 months to 8 years[mean 18.6months] and in weight from 3. 4kg to 23kg[mean 9.0$\pm$4.6kg]. They were analysed as Rastelli type A in 17 patients, Rastelli type B in 2 patients, and Rastelli type C in 9 patients. Seven patients had concomitant Down`s syndrome. All patients had large left-to-right shunt[mean pulmonary to systemic flow ratio 3.5 $\pm$2.2 ranging from 0.68 to 10.0] and high pulmonary systolic pressure[mean 74$\pm$18.8mmHg, ranging from 35 to 110]. In 11 patients, one patch technique was used to close the atrial and ventricular septal defect and 16 patients were undergone by two patch technique. We urgently managed only one patient by pulmonary artery banding whose anatomy was Rastelli type C and severe mitral regurgitation was identified. Postoperative complete A - V block was noted in 3 patients, two of whom were dead in operating room due to combined LVOTO and myocardial failure, and one patient with Rastelli type C was undergone by VVI type permanent pacemaker insertion 1wk later after two patch technique, but we had to manage him by modified Konno operation and total correction due to LVOTO and VSD leakage and severe mitral regurgitation 3 years later. Another two reoperation cases due to severe mitral regurgitation after two patch technique were undergone, one of whom we managed by mitral annuloplasty 3 months later but aggravated mitral regurgitation made us to control him by MVR 3 months later. Another one case of VSD leakage and tricuspid regurgitation was managed by total correction but she died of respiratory insufficiency 14 days later. We experienced pulmonary hypertensive crisis in 3 patients, who were dead in two cases comparing with one control case. So operative mortality is 9/27[33.6%], in one patch group of 3/11[29.2%] comparing with two patch group of 6/16[37.5%]. In summary, causes of death were pump weaning failure, myocardial failure and low cardiac output syndrome and pulmonary hypertensive crisis, resp. failure, complete AV block. Mean follow up period is 15.8$\pm$10.7 months[ranging from 3months to 37 months]

• Journal of the korean academy of Pediatric Dentistry
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• v.8 no.1
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• pp.77-88
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• 1981

The purpose of this study was to make a comprehensive study & evaluation of the oral status of mental retarded children. The auther examined intraorally 486 (male; 311, female;175) mental retarded children. The result was as follows; (General mental retarded children means the children who live in their parent's home, & orphan mental retarded children means the children who live in orphanage.) 1. The dft rate was 31.6% in general mental retarded children (G.m.r.c.) & 20.7% in orphan mental retarded children (O. m. r. c.). The dft index was 3.73 in G.m.r.c. & 2.15 in O.m.r.c. 2. The DMFT rate was 24.6% in female G.m.r.c., 16.7% in male G.m.r.c., 12.7% in female O.m.r.c., 8.4% in male O.m.r.c. The DMFT index was 4.94 in female G.m.r.c., 4.01 in male G.m.r.c., 1.40 in male O.m.r.c., 2.75 in female O.m.r.c. 3. The malocclusion prevalence was 57.3%. the class I malocclusion was 14.2% Class II malocclusion 19.3%, Class III malocclusion 23.5%. The children with Down's syndrome had 60.0% of class III malocclusion prevalence. 4. The dental calculus index was 1.97 in male O.m.r.c., 1.81 in female O.m.r.c., 1.30 in male G.m.r.e., 1.13 in female G.m.r.c. 5. The dental plaque index was 3.06 in female G.m.r.c., 3.00 in male Gm.r.e. 2.70 in male O.m.r,c., 2.32 in female O.m.r.c.

• Journal of KIISE:Software and Applications
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• v.27 no.8
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• pp.815-826
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• 2000

This study is for the segmentation and volume calculation of the white matter and gray matter from brain MRI. In general, the volume of white and gray matter is reduced by contraction of each components in the case of mental retardation which are Alzheimer's disease and Down's syndrome. As results, it is useful for diagnostic and early detection for various mental retardation through the tracing of variation for its volume from the brain MRI. But, until now, it was very difficult to calculate the partial volume of each components existing in some thickness, because MR image was represented by single gray value after scanning by MR scanner. Accordingly, new segmentation algorithm proposed in this paper is to calculate the partial volume of the white and gray matter existing in some thickness through the analysis of the blurred gray value, and is to determine the threshold for segmentation of white and gray matter, and is to calculate the volume of each segmented component. And finally, proposed algorithm was applied the models which was created manually, and then acquired results was compared with that of original model.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.50-54
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• 2018

Jehovah's Witnesses do not accept blood transfusions, because of their particular interpretation of the Old and New Testaments. When people with such religious convictions are in need of medical care, their faith and belief may become an obstacle for proper treatment, and pose legal, ethical, and medical challenges for the health care providers. We report two inherited metabolic disorder cases in South Korea where the infants died whilst under medical care because of parental refusal of blood transfusions for religious reasons. Case 1 had methylmalonic acidemia, Down syndrome and associated congenital cardiac anomalies requiring surgery. Case 2 had anemia and methylmalonic acidemia requiring dialysis to treat hyperammonemia and metabolic acidosis. For effective medical management, they needed life-saving blood transfusions. As a part of alternative treatment, Erythropoietin was administered in both cases. As a result, two babies died from their extremely low hemoglobin and hematocrit. The hemoglobin concentrations below 2.7 g/dL without cardiac problem and 5.4 g/dL with cardiac anomaly complicated by pulmonary hypertension are considered life-threatening hemoglobin threshold. The medical professional must respect and accommodate religious beliefs of the patients who can make informed decisions. However, when parents or legal guardians oppose medical treatment of their babies and incompetent care receivers on cultural and religious grounds, the duty to assist and save persons exposed to serious danger, particularly life-threatening events must come first.