• Title/Summary/Keyword: 선천성

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The Association of Neonatal Hyperbilirubinemia with UGT1A1 and CYP1A2 Gene Polymorphism in Korean Neonates (한국인의 신생아 황달과 UGT1A1 및 CYP1A2 유전자 다형성과의 연관성)

  • Kang, Hoon;Lim, Jun Ho;Kim, Ji Sook;Kim, Eun Ryoung;Kim, Sung Do;Lee, Hee Jae;Chung, Joo Ho
    • Clinical and Experimental Pediatrics
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    • v.48 no.4
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    • pp.380-386
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    • 2005
  • Purpose : The incidence of nonphysiologic neonatal hyperbilirubinemia is twice as high in East Asians as in whites. Recently, UGT1A1 mutation was found to be a risk factor for neonatal hyperbilirubinemia. In congenitally-jaundiced Gunn rats, which lack expression of UDP-glucuronosyltransferase, alternative pathways can be stimulated by inducers of CYP1A1 and CYP1A2 enzymes. CYP1A2 plays a major role in bilirubin degradation of the alternate pathway. We studied the relationship between UGT1A1 and CYP1A2 gene polymorphism of neonatal hyperbilirubinemia in Koreans. Methods : Seventy-nine Korean full term neonates who had hyperbilirubinemia(serum bilirubin >12 mg/dL) without obvious causes of jaundice, were analyzed for UGT1A1 and CYP1A2 gene polymorphism; the control group was sixty-eight. We detected the polymorphism of Gly71Arg of UGT1A1 gene by direct sequencing and T2698G of CYP1A2 by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) using MboII and direct sequencing. Results : Allele frequency of Gly71Arg mutation in the hyperbilirubinemia group was 32 percent, which was significantly higher than 11 percent in the control group(P<0.0001). Mutant gene frequency of T2698G was 41.8 percent in patients and 32.3 percent in the control group(P=0.015), but allele frequency was 21 percent in patients and 19 percent in the control group, which was not significantly higher(P=0.706). There was no relationship between mutations of two genes(P=0.635). Conclusion : The polymorphism of UGT1A1 gene(Gly71Arg) and CYP1A2 gene(T2698G) was detected in Korean neonatal hyperbilirubinemia. Only polymorphisms of Gly71Arg in UGT1A1 were significantly higher than control group.

Clinical Significance of Electrolyte Imbalance in Pediatric Urinary Tract Infection (요로감염과 동반된 전해질 불균형의 임상적 의의)

  • Cho, Sea-Eun;Choi, Lim;Yim, Hyung-Eun;Yoo, Kee-Hwan;Hong, Young-Sook;Lee, Joo-Won
    • Childhood Kidney Diseases
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    • v.15 no.1
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    • pp.58-65
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    • 2011
  • Purpose: Some hormonal and electrolyte abnormalities have been reported in pediatric patients with urinary tract infection (UTI). This study aimed to investigate the relationships between the imbalance of electrolytes and the severity of infection and associated urologic anomalies in children with febrile UTI. Methods: We retrospectively reviewed 267 patients with febrile UTI who were admitted to Korea University Guro Hospital during the period from January, 2007 until February, 2010. According to the presence of hyponatremia or hyperkalemia, clinical parameters and associated renal anomalies, such as hydronephrosis, cortical defects and vesicoureteral reflux, were compared. Results: 42.7% of all patients had decreased concentration of serum sodium. In patients with decreased concentration of serum sodium, cortical defects were significantly increased compared to normal patients (40.4% vs. 14.4%, P <0.05). White blood cell (WBC) counts ($15,721{\pm}6,553/uL$ vs. $12,885{\pm}5,367/uL$, P <0.05), C-reactive protein (CRP) ($61.8{\pm}56.1$ mg/L, vs. $29.9{\pm}39.8$ mg/L, P <0.05), and erythrocyte sedimentation rate (ESR) ($43.9{\pm}34.3$ mm/hr vs. $27.4{\pm}26.8$ mm/hr, P <0.05) in peripheral blood showed significant increases in the group with decreased concentration of serum sodium. Duration of fever, presence of gastrointestinal symptom, the incidence of hydronephrosis and vesicoureteral reflux did not differ between the two groups. None of the patients had significant hyperkalemia. Conclusion : We suggest that decreased concentration of serum sodium in febrile UTI might be a helpful marker for leukocytosis and increased CRP and ESR in peripheral blood, and acute pyelonephritis.

Clinical Evaluation of Patients with Unilateral Non-functioning Kidney on $^{99m}Tc-DMSA$ scan ($^{99m}Tc-DMSA$ 스캔에서 일측성으로 동위원소 섭취가 안되는 환아들에 대한 임상적 고찰)

  • Bae Hyun-Chul;Kim Hyun-Young;Kim Pyung-Kil;Han Sang-Won
    • Childhood Kidney Diseases
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    • v.1 no.1
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    • pp.31-37
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    • 1997
  • The DMSA scan is a useful radiologic study in diagnosis of morphologic and functional diseases of kidney. We evaluated the distribution of sex and age, clinical manifestations, diagnosis, combined diseases, treatment and prognosis of the 61 patients with non-functioning kidney(no isotope uptake or uptake below 5% in DMSA scan) who admitted in our hospital from 1980 to 1995. The proportion of patients under 1 year old age was 46%. Sex ratio was 1.4:1 with male predominance. Most diagnosis of non-functioning kidneys were congenital such as multicystic dysplastic kidney, hydronephrosis due to ureteropelvic junction obstruction, renal agenesis and renal hypoplasia. In order of frequency thirty one percent of them were previously detected on antenatal ultrasonogram. Treatment consisted of operation in 47.5%, mostly nephrectomy and 32.8% of patients were followed up at OPD base without definite treatment. The most common combined diseases was hydronephrosis, in 4patients who had both kidneys inveloved progressed to chronic renal failure, but the prognosis in most cases were good. It is important to evaluate renal diseases in perinatal periods, and we believe that highly sensitive diagnostic study contribute to early treatment plan and thus to good prognosis.

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A study on the validity of reference points for edentulous patient (무치악 환자를 위한 참고점들의 효용성에 대한 연구)

  • Park, Jeong-Jae;Kim, Myung-Joo
    • The Journal of Korean Academy of Prosthodontics
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    • v.53 no.4
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    • pp.310-317
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    • 2015
  • Purpose: The purpose of this study was to evaluate the validity of reference points for edentulous patient by examining the correlation of teeth and face, and intraoral anatomic landmarks. Materials and methods: We examined a facial outline, length, bizygomatic width, nasion - gnathion length, glabella - nasion distance in 270 men and 280 women satisfied with inclusion criteria from Seoul National School of Dentistry. The shape of maxillary central incisor, mesiodistal crown width and length of maxillary 6 incisors, distance from incisive papilla to labial surface of maxillary central incisor, and perpendicular distance from incisive papilla to intercanine line were measured in the stone model. We analyzed the ratio and relevant relation statistically. Results: The probability on having the same shape of face and the relative same shape maxillary incisor was 55.56% and 46.43% for men and women. The facial length proved to be a more valuable measurement in women in the tooth selection. The ratio of bizygomatic width to mesiodistal width of maxillary central incisor, and the ratio of bizygomatic width to width of maxillary 6 incisors were 16.8 : 1 and 3.0 : 1 and were positively correlated with each other. The distance of the canines from the maxillary incisal papilla was $1.33{\pm}1.28mm$. The distance between the center of the incisal papilla and the labial surface of their maxillary central incisor was $9.23{\pm}1.20mm$. Conclusion: It was showed that anatomical reference points in tooth selection and arrangement for edentulous patient are useful and have validity in our limited study.

Operative Treatment of Congenitally Corrected Transposition of the Great Arteries(CCTGA) (교정형 대혈관 전위증의 수술적 치료)

  • 이정렬;조광리;김용진;노준량;서결필
    • Journal of Chest Surgery
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    • v.32 no.7
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    • pp.621-627
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    • 1999
  • Background: Sixty five cases with congenitally corrected transposition of the great arteries (CCTGA) indicated for biventricular repair were operated on between 1984 and september 1998. Comparison between the results of the conventional(classic) connection(LV-PA) and the anatomic repair was done. Material and Method: Retrospective review was carried out based on the medical records of the patients. Operative procedures, complications and the long-term results accoding to the combining anomalies were analysed. Result: Mean age was 5.5$\pm$4.8 years(range, 2 months to 18years). Thirty nine were male and 26 were female. Situs solitus {S,L,L} was in 53 and situs inversus{I,D,D} in 12. There was no left ventricular outflow tract obstruction(LVOTO) in 13(20%) cases. The LVOTO was resulted from pulmonary stenosis(PS) in 26(40%)patients and from pulmonary atresia(PA) in 26(40%) patients. Twenty-five(38.5%) patients had tricuspid valve regurgitation(TR) greater than the mild degree that was present preoperatively. Twenty two patients previously underwent 24 systemic- pulmonary shunts previously. In the 13 patients without LVOTO, 7 simple closure of VSD or ASD, 3 tricuspid valve replacements(TVR), and 3 anatomic corrections(3 double switch operations: 1 Senning+ Rastelli, 1 Senning+REV-type, and 1 Senning+Arterial switch opera tion) were performed. As to the 26 patients with CCTGA+VSD or ASD+LVOTO(PS), 24 classic repairs and 2 double switch operations(1 Senning+Rastelli, 1 Mustard+REV-type) were done. In the 26 cases with CCTGA+VSD+LVOTO(PA), 19 classic repairs(18 Rastelli, 1 REV-type), and 7 double switch operations(7 Senning+Rastelli) were done. The degree of tricuspid regurgitation increased during the follow-up periods from 1.3$\pm$1.4 to 2.2$\pm$1.0 in the classic repair group(p<0.05), but not in the double switch group. Two patients had complete AV block preoperatively, and additional 7(10.8%) had newly developed complete AV block after the operation. Other complications were recurrent LVOTO(10), thromboembolism(4), persistent chest tube drainage over 2 weeks(4), chylothorax(3), bleeding(3), acute renal failure(2), and mediastinitis(2). Mean follow-up was 54$\pm$49 months(0-177 months). Thirteen patients died after the operation(operative mortality rate: 20.0%(13/65)), and there were 3 additional deaths during the follow up period(overall mortality: 24.6%(16/65)). The operative mortality in patients underwent anatomic repair was 33.3%(4/12). The actuarial survival rates at 1, 5, and 10 years were 75.0$\pm$5.6%, 75.0$\pm$5.6%, and 69.2$\pm$7.6%. Common causes of death were low cardiac output syndrome(8) and heart failure from TR(5). Conclusion: Although our study could not demonstrate the superiority of each classic or anatomic repair, we found that the anatomic repair has a merit of preventing the deterioration of tricuspid valve regurgitations. Meticulous selection of the patients and longer follow-up terms are mandatory to establish the selective advantages of both strategies.

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Study on the Evaluation of Renal Function According to Set a Partial Region of Interest in 99mTc-DMSA scan of the Pediatric Patient with a Duplicated Ureter (중복요관을 가진 소아환자의 99mTc-DMSA 검사에서 부분적 관심영역 설정에 따른 신기능 평가에 관한 연구)

  • Nam-Koong, Hyuk;Oh, Shin Hyun;Kim, Jung Yul;Choi, Yoon Jung;Kim, Jae Sam;Lee, Chang Ho
    • The Korean Journal of Nuclear Medicine Technology
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    • v.17 no.1
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    • pp.43-47
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    • 2013
  • Purpose: A duplicated ureter is congenital renal malformations with ureter in two. Patients with duplicated ureter are in force to $^{99m}Tc-DMSA$ scan at surgery before and after. In existing examination, at produce result after $^{99m}Tc-DMSA$ scan, didn't compare to upper pole and lower pole with malformed kidney and compared to only relative uptake ratio. Therefore, this study will examine about utility of set a partial region of interest and to functional recovery of renal cell through change of upper pole uptake ratio of malformed kidney by setting each partial region of interest in upper pole and lower pole of malformed kidney in $^{99m}Tc-DMSA$ examination in surgery before and after. Materials and Methods: Pediatric patients with malformed kidney of incomplete duplicated ureter, 15 patients were enrolled in this study. Scanning were scan 3 to 4 hours after injection of $^{99m}Tc-DMSA$ 1.5 ~ 1.9 MBq/kg. Region of interest were each set in normal kidney, upper pole and lower pole with malformed kidney. Region of interest were set with same condition and method to images of surgery before and after that radio technologist 1 person, resident of nuclear medicine 1 person and doctor of urology together. Therefore, this study were compared to uptake ratio (A: B: C) that normal kidney (A), lower pole of malformed kidney (B) and upper pole of malformed kidney (C) about uptake ratio changes of malformed kidney in follow-up examination of surgery before and after. Results: When compared to 15 patients, uptake ratios were increased 7 persons and decreased 8 persons. Among increased 7 persons, it were periods of follow-up examination that 2 persons were 14 months, 4 persons were 12 months and 1 person was 8 months after surgery. Among decreased 8 persons, it were periods of follow-up examination that 4 persons were 12 months 3 persons were 6 months and 1 persons were 4 months after surgery. Conclusion: Existing study could not see the exact uptake ratio changes of malformed kidney because using only the overall Left-Right kidney uptake ratios. But a setting partial region of interest was able to see exactly what changes in the uptake of each upper pole and lower pole of malformed kidney. Because recovery of renal parenchymal cells is difficult in an evaluation of short period of time, follow-up examination should be made in long period of time. How to set up partial region of interest be thought that it would be useful.

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20 Years Surgical Experiences for Ebstein's Anomaly (엡스타인 기형의 20년 수술 치험)

  • Lee, Sak;Park, Han-Ki;Lee, Chang-Young;Chang, Byung-Chul;Park, Young-Hwan
    • Journal of Chest Surgery
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    • v.40 no.4 s.273
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    • pp.280-287
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    • 2007
  • Background: We retrospectively evaluated the clinical results of surgically managing patients with Ebstein's anomaly. Material and Method: Between Feb. f 984 and June 2006, 50 patients who underwent surgical treatment for Ebstein's anomaly at Yonsei Cardiovascular Center were retrospectively reviewed. The mean age of the patients was 26.9 years and 19 patients were male, Associated anomalies included atrial septal defect (33), patent ductus arteriosus (2), ventricular septal defect (1), and pulmonary stenosis (4), and 90%, (45/50) of the patients had more than a moderate degree of tricuspid regurgitation. Carpentier type A was present in 6 patients, type B in 26, type C in 14 and type D in 4. Ten patients were associated with WPW syndrome. Conservative surgery was possible in 31 patients (tricuspid annuloplasty, plication of the atrialized RV), Fontan's operation was peformed in 4 patients, tricuspid valve replacement was done in 12 and palliative surgery was done in 2 patients. Thirteen patients were associated with hi-directional cavopulmonary shunt (BCPS: one and a half ventricular repairs): 10 patients with WPW syndrome and 4 patients with atrial fibrillation underwent concomitant ablation. Result: The postoperative median NYHA functional class $(3{\rightarrow}1)$ and the mean cardio-thoracic ratio $(0.65{\rightarrow}0.59)$ were decreased significantly (p<0.001, p=0.014). The mean oxygen saturation $(86.6{\rightarrow}94.1%)$, and median TR grade $(4{\rightarrow}1)$ were also significantly improved (p=0.004, p<0.001). For comparison of BCPS and conservative surgery, the preoperative right ventricular pressure (33.0 vs. 41.3 mmHg), the ICU stay (2.80 vs. 1.89 days), the hospital say (10.6 vs. 16.8 days), and the left ventricular ejection fraction (64.3 vs. 72.8%) were statistically different. Postoperative mortality occurred in 3 patients (6%) due to biventricular failure in 2 patients and sepsis in the other patient. The mean follow up duration was 101.5 months, and one patient died of Fontan failure and 6 patients required reoperation (bioprosthetic degenerative change (2) and Fontan conversion (4)). The overall survival rate at 10 years was 90.2%, the freedom from reoperation rate and rate of cardiac related events were 78.9% and 49.2%, respectively. Conclusion: Surgical management of Ebstein's anomaly can be performed safely, and the associated BCPS may be helpful for high-risk patients. Adequate application of surgical management may increase the long-term survival with a reduced rate of reoperation.

The Clinical Application and Results of Palliative Damus-Kaye-Stansel Procedure (고식적 Damus-Kaye-Stansel 술식의 임상적 적용 및 결과)

  • Lim, Hong-Gook;Kim, Soo-Jin;Kim, Woong-Han;Hwang, Seong-Wook;Lee, Cheul;Shinn, Sung-Ho;Yie, Kil-Soo;Lee, Jae-Woong;Lee, Chang-Ha
    • Journal of Chest Surgery
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    • v.41 no.1
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    • pp.1-11
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    • 2008
  • Background: The Damus-Kaye-Stansel (DKS) procedure is a proximal MPA-ascending aorta anastomosis used to relieve systemic ventricular outflow tract obstructions (SVOTO) and pulmonary hypertension. The purpose of this study was to review the indications and outcomes of the DKS procedure, including the DKS pathway and semilunar valve function. Material and Method: A retrospective review of 28 patients who underwent a DKS procedure between May 1994 and April 2006 was performed. The median age at operation was 5.3 months ($13\;days{\sim}38.1\;months$) and body weight was 5.0 kg ($2.9{\sim}13.5\;kg$). Preoperative pressure gradients were $25.3{\pm}15.7\;mmHg$ ($10{\sim}60\;mmHg$). Eighteen patients underwent a preliminary pulmonary artery banding as an initial palliation. Preoperative main diagnoses were double outlet right ventricle in 9 patients, double inlet left ventricle with ventriculoarterial discordance in 6,. another functional univentricular heart in 5, Criss-cross heart in 4, complete atrioventricular septal defect in 3, and hypoplastic left heart variant in 1. DKS techniques included end-to-side anastomosis with patch augmentation in 14 patients, classical end-to-side anastomosis in 6, Lamberti method (double-barrel) in 3, and others in 5. The bidirectional cavopulmonary shunt and Fontan procedure were concomitantly performed in 6 and 2 patients, respectively. Result: There were 4 hospital deaths (14.3%), and 3 late deaths (12.5%) with a follow-up duration of $62.7{\pm}38.9$ months ($3.3{\sim}128.1$ months). Kaplan-Meier estimated actuarial survival was $71.9%{\pm}9.3%$ at 10 years. Multivariate analysis showed right ventricle type single ventricle (hazard ratio=13.960, p=0.004) and the DKS procedure as initial operation (hazard ratio=6.767, p=0.042) as significant mortality risk factors. Four patients underwent staged biventricular repair and 13 received Fontan completion. No SVOTO was detected after the procedure by either cardiac catheterization or echocardiography except in one patient. There was no semiulnar valve regurgitation (>Gr II) or semilunar valve-related reoperation, but one patient (3.6%) who underwent classical end-to-side anastomosis needed reoperation for pulmonary artery stenosis caused by compression of the enlarged DKS pathway. The freedom from reoperation for the DKS pathway and semilunar valve was 87.5% at 10 years after operation. Conclusion: The DKS procedure can improve the management of SVOTO, and facilitate the selected patients who are high risk for biventricular repair just after birth to undergo successful staged biventricular repair. Preliminary pulmonary artery banding is a safe and effective procedure that improves the likelihood of successful DKS by decreasing pulmonary vascular resistance. The long-term outcome of the DKS procedure for semilunar valve function, DKS pathway, and relief of SVOTO is satisfactory.

A Criticism of the Epistemological Premise of Kant's Transcendental Logic and that of Lacan's Psychoanalytic Logic, and Justification of Structure-Constructivist Epistemology(1) (칸트의 선험적 논리학과 라캉의 정신분석적 논리학의 인식론적 전제에 대한 비판과 구조-구성주의 인식론 정초(I))

  • Moun, Jean-sou
    • Journal of Korean Philosophical Society
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    • v.137
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    • pp.151-191
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    • 2016
  • Kant and Lacan strongly criticized the epistemological premise of formal logic. However, Lacan was opposed to Kant in terms of subject, object, knowledge and truth. From the viewpoint of Kant's transcendental logic, formal logic does not have the ability to represent the nature of truth. On the other hand, from the viewpoint of Lacan's psychoanalytic logic, Kant's transcendental logic misunderstands or only partially represents the state of things. But I would like to try to criticize the epistemological premise of the two forms of logic. Transcendental logic takes the evident and new function in that it has studied the necessary condition of content rather than the form of thinking which formal logic considers as his object of study. Transcendental logic evidently studies the categories which dominate our way of thinking. Can we say that the 12 categories which Kant provided are sufficient in explaining the necessity of thinking? Lacan's psychoanalytic logics tells us that Kant's categories are only a kind of metaphor related with hypothesis that tries to explain the possibility of synthetical judge a priori. Is Lacan's psychoanalytic logic sufficient in explaining the possibility of science? It is not sufficient in explaining the objectivity and strictness of science, for it depends on metaphor and metonymy which are useful to literature and unconsciousness. I would like to try to synthesize Kant's transcendental and Lacan's psychoanalytic logic in terms of structure-constructivism which combines both formal and dialectical logic, which is consistent with the ideal of human science, and not blinkered science. My conclusion is that Kant's ethical and esthetical theory should be modified though Lacan's psychoanalytic logic, and Lacan's theory of the unconsciousness revised by Kant's transcendental logic.

Reviewing the Concept of Gender Equality and Femininity in Daesoon Thought: Focusing on Meritorious Deeds and Implementing a Practice on the Based on the Resolution of Grievances for Women (대순사상의 남녀평등이념과 여성성 재조명 - 여성해원의 원리로 본 공덕과 실천을 중심으로 -)

  • Park, Min-mi;Hwang, Hee-yeon;Park, Yong-cheol
    • Journal of the Daesoon Academy of Sciences
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    • v.29
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    • pp.209-239
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    • 2017
  • This study focuses on reviewing the concepts, roles, meanings, and values ascribed to females and femininity as observable in Daesoon thought and in Feminist theory. Especially with regards to the process of achieving gender equality through the resolution of grievance for females in Daesoon thought, the study draws positive and desirable roles within this practice by specifically examining good deeds performed by females and practical roles that females play. By doing so, this study finds a way to go from the world of mutual contention to the world of resolving grievances that have arisen due to the oppression of yin and the encouragement of yang. First wave feminism can be summarized as the inclination for equality. In Daesoon thought concerning this and from standpoint of females, the most ideal image of woman is one of a female Perfected Being who is unified with Dao and has thereby achieved perfection of her humanity apart from gender. In the Later World (Hucheon), people can get results based on their hard work regardless of gender. The enlightenment of Dao is such that it is not important to distinguish between males and females. Both of them can be 'unified with dao'. Therefore, despite the similarity, the concepts of equality in first wave feminism and the resolution of grievance for women have differences in terms of their ideal vision of equality. The representative claim in second wave feminism is 'consideration' and, in this context, 'consideration' has pronounced feminine characteristics. In Daesoon thought, this sense of 'consideration' is related to the concept of 'Jamojijeong', a term that refers to motherly affection. However, it is not simply a virtue of females and mothers, but rather the value of 'Yin (pronounced in Sino-Korean as 'Eum')' called 'Eumdeok (hidden virtue)'. Jamojijeong means that people should behave in a modest way and this helps them achieve their aims. It is also closely related with 'femininity' in the sense of Eum. One of processes spreading it socially is to propagate virtue (Podeok) and if harmony is achieved through it, then 'right yin and right yang' emerge as the precondition by which Pyeong Do (Pacification of Tao) can be realized. Furthermore, because the aspect of Pyeong is a cosmic process, it has distinct differences from the social aims of feminism and the worldly aims of other numerous ideologies. In proceeding from the Former World (Seoncheon), an era of mutual contention, to the Later World, an era of mutual beneficence, it is essential to emphasize the connection between 'harmony (Hwa)' and 'propagating virtue' as the starting point from which the perspective of Daesoon thought aiming at the principle of 'Pyeong' and 'Hwa' emerges. Herein one can discover that the realization of Daesoon thought is based on the vitalization of the feminine value of 'Jamojijeong'.