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Allogeneic Hematopoietic Stem Cell Transplantation in Juvenile Myelomonocytic Leukemia (연소형 골수단구성 백혈병에서의 동종 조혈 모세포 이식)

  • Yoo, Keon Hee;You, Dong Kil;Lee, Soo Hyun;Sung, Ki Woong;Cho, Eun Joo;Koo, Hong Hoe
    • Clinical and Experimental Pediatrics
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    • v.48 no.2
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    • pp.178-185
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    • 2005
  • Purpose : The purpose of this study was to evaluate the outcome of children with juvenile myelomonocytic leukemia(JMML) treated with allogeneic hematopoietic stem cell transplantation(allo-HSCT). Methods : Eleven JMML patients aged 8-39 months underwent allo-HSCT. The sources of grafts were unrelated donors(n=7), HLA-matched siblings(n=3) and an HLA 1-antigen mismatched familial donor. All patients had received chemotherapy ${\pm}13$-cis-retinoic acid(CRA) before transplant, and CRA was used, posttransplant, in six patients. Results : Only three patients were in complete remission(CR) at the time of transplantation. Initial chimeric status revealed complete donor chimerism(CC) in five patients, mixed chimerism(MC) in five and autologous recovery(AR) in one. One patient with MC having persistent splenomegaly eventually turned to CC and CR after rapid tapering of cyclosporine, combined with daily use of CRA. An AR case relapsed shortly after transplant but was rescued with second, unrelated cord blood transplantation. Ultimately, six patients are alive, event-free, with a median follow-up of 15.5 months posttransplant. All three deaths occurred in patients who failed to achieve CC, leading to disease progression. Conclusion : We suggest that graft-versus-leukemia effect play an important role and CRA a possible role in posttransplant leukemic involution in JMML. In patients whose leukemic burden is still high with MC after transplant, early tapering of immunosuppressants and introduction of CRA might provide a chance of a cure for some patients.

Study on Genetic Evaluation using Genomic Information in Animal Breeding - Simulation Study for Estimation of Marker Effects (가축 유전체정보 활용 종축 유전능력 평가 연구 - 표지인자 효과 추정 모의실험)

  • Cho, Chung-Il;Lee, Deuk-Hwan
    • Journal of Animal Science and Technology
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    • v.53 no.1
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    • pp.1-6
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    • 2011
  • This simulation study was performed to investigate the accuracy of the estimated breeding value by using genomic information (GEBV) by way of Bayesian framework. Genomic information by way of single nucleotide polymorphism (SNP) from a chromosome with length of 100cM were simulated with different marker distance (0.1cM, 0.5cM), heritabilities (0.1, 0.5) and half sibs families (20 heads, 4 heads). For generating the simulated population in which animals were inferred to genomic polymorphism, we assumed that the number of quantitative trait loci (QTL) were equal with the number of no effect markers. The positions of markers and QTLs were located with even and scatter distances, respectively. The accuracies of estimated breeding values by way of indicating correlations between true and estimated breeding values were compared on several cases of marker distances, heritabilities and family sizes. The accuracies of breeding values on animals only having genomic information were 0.87 and 0.81 in marker distances of 0.1cM and 0.5cM, respectively. These accuracies were shown to be influenced by heritabilities (0.87 at $h^2$ =0.10, 0.94 at $h^2$ =0.50). According to half sibs' family size, these accuracies were 0.87 and 0.84 in family size of 20 and 4, respectively. As half sibs family size is high, accuracy of breeding appeared high. Based on the results of this study it is concluded that the amount of marker information, heritability and family size would influence the accuracy of the estimated breeding values in genomic selection methodology for animal breeding.

A Comparison of Discriminating Powers Between 14 Microsatellite markers and 60 SNP Markers Applicable to the Cattle Identification Test (소 동일성 검사에 적용 가능한 14 Microsatellite marker와 60 Single Nucleotide Polymorphism marker 간의 판별 효율성 비교)

  • Lim, Hyun-Tae;Seo, Bo-Yeong;Jung, Eun-Ji;Yoo, Chae-Kyoung;Yoon, Du-Hak;Jeon, Jin-Tae
    • Journal of Animal Science and Technology
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    • v.51 no.5
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    • pp.353-360
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    • 2009
  • When 14 microsatellite (MS) markers were applied in the identifying test for 480 Hanwoo, the discriminating power was estimated as $3.43{\times}10^{-27}$ based on the assumption of a random mating group (PI). This rate is 1,000 times higher than that of 60 single nucleotide polymorphism (SNP) markers. On the other hand, the power of the 60 SNP markers was estimated as $4.69{\times}10^{-20}$ and $8.02{\times}10^{-12}$ on the assumption of a half-sib mating group ($PI_{half-sibs}$) and a full-sib mating group ($PI_{sibs}$), respectively. These powers were 10 times and 10,000 times higher than those of the 14 MS markers. The results indicated that the total number of alleles (MS vs SNP = 146 vs 120) acted as a key factor for the discriminating power in a random mating population, and the total number of markers (MS vs SNP = 14 vs 60) was a dominant influence on the power in half-sib and full-sib populations. In the Hanwoo population, in which it was assumed that the entire population is the enormous half-sib group formed by the absolute genetic contribution of a few nuclear bulls, there will be only a 10 times difference in the discriminating power between the 14 MS markers and the 60 SNP makers. However, the probability of not excluding a candidate parent pair from the parentage of an arbitrary offspring, given that only the genotype of the offspring ($PNE_{pp}$) was 1,000 times higher as shown by the 14 MS markers than that by the 60 SNP markers. The strong points of SNP makers are the stability of the variation (low mutation rate) and automation of high-throughput genotyping. In order to apply these merits for the practical and constant Hanwoo identity test, research and development are required to set a cost-effective platform and produce a homemade apparatus for SNP genotyping.

Genetic Parameters for Milk Production and Somatic Cell Score of First Lactation in Holstein Cattle with Random Regression Test-Day Models (임의회귀 검정일 모형을 이용한 홀스타인 젖소의 1산차 산유형질 및 체세포지수에 대한 유전모수)

  • Lee, D.H.;Jo, J.H.;Han, K.G.
    • Journal of Animal Science and Technology
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    • v.45 no.5
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    • pp.739-748
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    • 2003
  • The objective of this study was to estimate genetic parameters for test-day milk production and somatic cell score using field data collected by dairy herd improvement program in Korea. Random regression animal models were applied to estimate genetic variances for milk production and somatic cell score. Heritabilities for milk yields, fat percentage, protein percentage, solid-not-fat percentage, and somatic cell score from test day records of 5,796 first lactation Holstein cows were estimated by REML algorithm in single trait random regression test-day animal models. For these analyses, Legendre polynomial covariate function was applied to model the fixed effect of age-season, the additive genetic effect and the permanent environment effect as random. Homogeneous residual variance was assumed to be equal throughout lactation. Heritabilities as a function of time were calculated from the estimated curve parameters from univariate analyses. Heritability estimates for milk yields were in range of 0.13 to 0.29 throughout first lactation. Heritability estimates for fat percentage, protein percentage and solid-not-fat percentage were within 0.09 to 0.11, 0.12 to 0.19 and 0.17 to 0.23, respectively. For somatic cell score, heritabilities were within 0.02 to 0.04. Heritabilities for milk productions and somatic cell score were fluctuated by days in milk with comparing 305d milk production.

Total Body Irradiation for Allogeneic Bone Marrow Transplantation in Chronic Myelogenous Leukemia (만성 골수성 백혈병에서 동종 골수 이식을 위한 전신방사선조사)

  • Chung Su Mi;Choi Ihl Bohng;Kang Ki Mun;Kim In Ah;Shinn Kyung Sub;Kim Choon Choo;Kim Dong Jip
    • Radiation Oncology Journal
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    • v.12 no.2
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    • pp.209-217
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    • 1994
  • Between July 1987 and December 1992, we treated 22 patients with chronic myelogenous leukemia; 14 in the chronic phase and 8 with more advanced disease. All were received with allogeneic bone marrow transplantation from HLA-identical sibling donors after a total body irradiation(TBI) cyclophosphamide conditioning regimen. Patients were non-randomly assigned to either 1200 cGy/6fractions/3days (6 patients) or 1320 cGy/8 fractions/4days (16 patients) by dose of TBI. Of the 22 patients, 8 were prepared with cyclophosphamide alone, 14 were conditioned with additional adriamycin or daunorubicin. To prevent graft versus host disease, cyclosporine was given either alone or in conjunction with methotrexate. The actuarial survival and leukemic-free survival at four years were $58.5\%$ and $41.2\%$, respectively, and the relapse rate was $36\%$ among 22 patients. There was a statistically significant difference in survival between the patients in chronic phase and more advanced phase ($76\%\;vs\;33\%$, p=0.05). The relapse rate of patients receiving splenectomy was higher than that of patients receiving splenic irradiation ($50\%\;vs\;0\%$, p=0.04). We conclude that the probability of cure is highest if transplantation is performed while the patients remains in the chronic phase.

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A Study of 'Families' as presented during the Technology-Home Economics Subject in Middle School: Focusing on the 'The Changing Family' of the 2007 Revised Curriculum (중학교 기술.가정 교과서에 나타난 '가족'에 관한 연구 - 2007 개정 교육과정의 '변화하는 가족' 단원을 중심으로 -)

  • Jun, Mi-Kyung
    • Journal of Korean Home Economics Education Association
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    • v.24 no.2
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    • pp.29-49
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    • 2012
  • The purpose of this study is to look at families as presented on the technology-home economics subject of middle school. To do this, I analyzed the 2007 revised curriculum of the technology-home economics subject, 'Changing Families,' in 11 technology-home economics textbooks (8th grade). The findings are as follows. First, family-related chapters are expanded compared with the previous curriculum in the 2007 revised curriculum. In addition, the new version emphasizes understanding and acceptance of change in families to improve the family life of adolescents. Second, in the 11 types of technology-home economics textbooks, the focusing was on the meaning of the family, the family structure, the function of the family, family roles and family values. There were also no major differences in the aspect of development. Third, in the technology-home economics textbooks, the family was defined as the 'basic group of society', 'a group composed by blood relationships, marriage and adoption', 'an affective group' and 'cohabiting group'. At the same time, there were many cases in which the description of the family was overly romanticized. Such a description of the family does not match the individual family experience of an adolescent. Fourth, all of textbooks dealt with the diversity of the family structure, such as single-parent families, remarriages families, and multi-cultural families. However, the structural characteristics and problems with these types of families are excessively emphasized, which can result in students having stereotypical images of specific family types. Fifth, the explanation of the function of the family was similar among textbooks. The importance of intergenerational cooperation and gender equality was also emphasized. However, such a concept is not considered as proper in a modern society. Thus, the description of a family based on the nuclear family should be sublated. In addition, the explanation of families overall should be developed in such a way that adolescents can interpret their own family experience rather than as an enlightening declaration of the family which disregards the dynamic relationships individual families actually experience.

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A Cases of Crane Breeding(養鶴) at Private Homes(私家) in the Joseon Dynasty Period (조선시대 사가(私家) 정원에서의 양학(養鶴) 사례)

  • Hong, Hyoung-Soon
    • Journal of the Korean Institute of Traditional Landscape Architecture
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    • v.38 no.2
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    • pp.42-59
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    • 2020
  • The purpose of this study is to examine the actual cases of crane breeding at private homes in the Joseon Dynasty period, thereby identifying the universal meaning and characteristics of this act reflected in these cases. This study is likely to help understand the true nature of garden culture during the period. The study' temporal and spatial scope was limited to the Joseon Dynasty and private homes. As references for the study, translated versions of classical literature were selected from the Database of Korean Classics(http://db.itkc.or.kr). To complement for the data, related researchers' translated materials were also used in part. The study's results are summed up as follows: First, Individuals from various social classes including royal families, noblemen, noble families in countryside, and commoners kept cranes at their homes. These crane breeders included those who left a significant mark in the Joseon Dynasty politically and academically as well as 'cheosa(處士)' that refers to scholars living in seclusion without entering the government throughout their lifetime. Second, Crane breeders were spread all over the country. Notably, various cases of crane breeding were found within the Hanyang Wall and its vicinity. Third, The act of crane breeding was highly associated with blood ties and academic lineages such as friendships and teacher-student relations. In this regard, crane breeding was not just a simple taste or appreciation for the arts, but rather reflective of a person's life attitude and orientation. Forth, The consciousness of Confucian origins based on an ancient story of Limpo (林逋) appears to have a large impact on the act of crane breeding. In addition, some cases exhibited the reflection of Taoistic tastes. Fifth, Some individuals tamed cranes for a living. This proves the presence of steady demand for cranes in this period. The present study's limitation is its reliance on translated materials, which hindered research into various cases. Therefore, the future discovery of additional data and the accumulation of their translations will enable the investigation of a wealth of cases.

AGL gene mutation and clinical features in Korean patients with glycogen storage disease type III

  • Ko, Jung-Min;Kim, Gu-Hwan;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.4 no.1
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    • pp.72-79
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    • 2007
  • Purpose : Glycogen storage disease type III (GSD-III) is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme, amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), is responsible for the debranching of the glycogen molecule during catabolism. The disease shows clinical and biochemical heterogeneity, reflecting genotype-phenotype heterogeneity among different patients. In this study, we aim at analyzing mutations of the AGL gene in three unrelated Korean GSD-III patients, and characterizing their clinical and laboratory findings. Methods : We characterized the clinical features of three unrelated Korean GSD-III patients by biochemical, histological and imaging studies. The 35 exons and part of exon-intron boundaries of AGL were analyzed by direct sequencing using genomic DNA extracted from the peripheral leukocytes of patients. Results : Diverse clinical features were observed in these patients including hepatomegaly (all patients), seizures (patient 2), grow th failure (patients 1 and 2), hyperlipidemia (patients 1 and 3), raised transaminase and creatine kinase concentrations (all patients), and mild cardiomyopathy (patient 2). Liver transplantation w as performed in patient 2 due to progressive hepatic fibrosis. A dministration of uncooked corn starch maintained normoglycemia and improved biochemical and growth profiles. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 had c.1510_1511insT (p.Y 504L fsX 10), and patient 3 had c.3416 T >C (p.L 1139P) and c.1735+1 G>T (p.Y 538_R578delfsX 4) mutations. A part from the p.R428K mutation, the 4 other substitutions identified w ere nov el. Conclusion : GSD-III patients display variable phenotypic characteristics resembling those of GSD-Ia. Molecular defects in the AGL gene of Korean GSD-III patients are genetically heterogeneous.

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The Application of the Forensic Dental Identification to Unidentified Individual Remains in Korea (신원불명 사망자의 개인식별에서 법치의학적 방법의 활용성에 관한 연구)

  • Park, Hee-Kyung
    • Journal of Oral Medicine and Pain
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    • v.31 no.1
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    • pp.27-36
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    • 2006
  • The cases of unidentified individual remains submitted to Forensic dentistry section in National Institute of Scientific Investigation, Korea were analyzed to study the application of forensic dental identification into individual identification in the period 2002-2005. The identification cases of unidentified remains were 405 out of 493, which accounted about 82% of whole cases. The incidence of submission of skeletons at least including the skull was increased from 58% in 2002 to 80% in 2005. The numbers of cases for the full examinations were 4 times more than that for age estimation in 2005. Twenty-four cases were submitted for skull to photographic superimposition and 15 out of 24 cases were examined, and the other 9 cases were examined by DNA analysis only. The submitted cases for dental comparison were 23 cases, 9 cases were positively identified, 4 cases were possible, 7 cases were excluded, and 3 cases ended up with insufficient evidences. The proportion of positive identification by dental methods was increased gradually from 9% in 2002 to 46% in 2005. Forensic dental identification has become important and useful because the availability of dental records and radiographs has been increasing. Compared to DNA analysis, forensic dental identification has several advantages such as no needs for high cost equipments and low expenses. And the interpretation of results is straightforward and speedy. These advantages are based on using primary their own dental records of the individuals rather than secondary DNA reference samples from family members. The application of the forensic dental identification to unidentified individual remains will be increased because the dental comparison can complement the limitation of DNA analysis and skull to photographic superimposition in many cases. In order to obtain positive identifications of unidentified remains, a close collaboration between the police and forensic scientists is important. The systemic approach including legislation to preserve dental records of unidentified remains and missing persons for the identification of unidentified remains should be needed.

The Political Background of the Installation of the Crown Prince During the Period of King Munjong in the Goryeo Dynasty (고려 문종대 왕태자(王太子) 책봉(冊封)과 태자(太子) 관련 제도(制度) 정비의 의미)

  • Kim, Seon-mi
    • Journal of Korean Historical Folklife
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    • no.45
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    • pp.263-289
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    • 2014
  • King Munjong(文宗), the eleventh King of the Goryeo Dynasty, was the son of King Hyeonjong(顯宗), the eighth king, and the younger stepbrother(異母弟) of King Jeongjong(靖宗), the 10th king. Although King Jeongjong had four sons, he abdicated the throne to King Munjong. King Taejo(太祖) had opened the possibility for sons other than the eldest son to succeed to the throne. When King Jeongjong died, his sons were children under the age of 10 years. In the early period of the Goryeo Dynasty, when kings had young sons, there were precedents of abdicating the throne to their grown-up younger brothers. In addition, King Jeongjong and Munjong had an identical blood background. During the period, Goryeo people also naturally accepted the fact that a former king's younger brother succeeded to the throne. In this background, King Munjong ascended the throne. However, King Munjong did not ascend the throne after identifying state affairs with politic power. Therefore, he needed to increase his authority as the king. Moreover, as the sons of King Jeongjong had grown up, they could stir up trouble in future succession to the throne. Therefore, King Munjong intended to concentrate power on himself and remove trouble in future succession to the throne by selecting his son as successor to the throne. After the installation of Wangtaeja(王太子, the Crown Prince), King Munjong expanded and organized Donggunggwan(東宮官, the establishment of Secretariat of Wangtaeja) and carried out various rituals related to Wangtaeja. The control system for Donggunggwan was completed institutionally in 1068. At this time, the newly organized Donggunggwan was operated as a miniature version of the central government office. In addition, the ritual for the installation of Taeja, which was held in 1054, complied with regulated procedures. After the ritual of the installation, a ceremony to congratulate on Jangheungjeol(長興節, the birthday of Wangtaeja) was held in 1056. In 1064, the wedding ritual of Taeja took place, and the ritual for Taeja regulated in Yeji(禮志) of "Goryeosa(高麗史)" was carried out. In addition, the installation of Wangtaeja was made known overseas, and the Taeja of Goryeo was proclaimed by the Kitan three times. Such various measures played an important role in strengthening the status of Taeja as the man of authority next to the king. Later, Taeja demonstrated his status as the man of authority following the king by participating in state affairs on behalf of King Munjong who was not able to move about freely in his later years.