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Is the BRCA Germline Mutation a Prognostic Factor in Korean Patients with Early-onset Breast Carcinomas? (한국의 젊은 여성유방암 환자에서 BRCA 배선유전자 돌연변이는 예후인자인가?)

  • Choi Doo Ho;Lee Min Hyuk;Haffty Bruce G.
    • Radiation Oncology Journal
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    • v.21 no.2
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    • pp.149-157
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    • 2003
  • Purpose: The purpose of this study was to determine if there were prognostic differences between BRCA related and BRCA non-related Korean patients with early-onset breast carcinomas. Materials and Methods: Sixty women who had developed breast cancers before the age of 40, and who were treated at the Soonchunhyang University Hospital, were studied independently of their family histories. The age range was 18 to 40 with a median of 34.5 years. Lymphocyte specimens from peripheral blood were studied for the heterozygous mutations of BRCA1 and BRCA2 using direct sequencing methods. Immunohistochemistry was peformed on the paraffin-embedded tissue blocks that were available. Results: Eleven deleterious mutations (18.3%, 6 in BRCA1 and 5 in BRCA2) and 7 missense mutations of unknown significance (11.7%), were found among the 60 patients. More than half of the mutation were novel, and were not reported in the database. Most of the BRCA-associated patients had no history of breast cancer. No treatment related failures were observed in the BRCA carriers, with the exception of one patient that had experienced a new primary tumor of the contralateral breast. The seven year relapse free survival rate were 50 and 79% In the BRCA carrier and BRCA negative patients, respectively. Although the expression of estrogen and progesterone receptors were less common, and histological features more aggressive, in the BRCA associated tumors, the outcome of the patients with BRCA mutations was not poorer than that on the patients without deleterious mutations. Conclusion.: Despite the BRCA mutation carriers having adverse prognostic features, the recurrence rate was relatively lower than that in the BRCA non-carrying Korean patients wi4h early-onset breast carcinomas. In addition, although the prevalence of the BRCA mutation in Korean patients was higher than that in white patients, the penetrance of the cancer seemed to be relatively low in Korean women carrying BRCA mutations. A large population based study of the BRCA mutation, with a long-term follow-up of the study patients will be required to confirm these results.

Pathogens and Prognotic Factors for Early Onset Sepsis in Very Low Birth Weight Infants (극소 저체중 출생아에서 조기 패혈증의 원인균과 예후인자)

  • Kim, Yi-Sun;Kim, Jin-Kyu;Yoo, Hye-Soo;Ahn, So-Yoon;Seo, Hyun-Ju;Choi, Seo-Heui;Park, Soo-Kyung;Jung, Yu-Jin;Kim, Myo-Jing;Jeon, Ga-Won;Koo, Soo-Hyun;Lee, Kyung-Hoon;Chang, Yun-Sil;Park, Won-Soon
    • Neonatal Medicine
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    • v.16 no.2
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    • pp.163-171
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    • 2009
  • Purpose: This study was conducted to determine the incidence, causative pathogens, risk factors and mortality for early onset sepsis in the first three days in very low birth weight infants. Methods: The medical records of 1,124 very low birth weight infants admitted to the neonatal intensive care unit of Samsung Medical Center between November 1994 and December 2008 were retrospectively reviewed. The incidence, causative pathogens, risk factors, and mortality for early onset sepsis in the first 3 days of life in very low birth weight infants were evaluated. Results: Early onset sepsis, as confirmed by positive blood cultures, was present in 17 of 1,124 infants (1.5%). Sixty-four percent of the isolated pathogens were gram-positive bacteria and 35% of the isolated pathogens were gram-negative bacteria. The dominant pathogens of early onset sepsis included Staphylococcus aureus (23.5%), Esherichia coli (23.5%), and Enterococcus (17.6%). Vaginal delivery (adjusted odds ratio [OR], 3.7; 95% confidence interval [CI], 1.3-10.3; P=0.01) was associated with early onset sepsis. The overall mortality (adjusted hazard ratio, 3.0; 95% CI, 1.4-6.5; adjusted P=0.0039) and mortality within 72 hours of life (adjusted hazard ratio, 6.5; 95% CI, 2.2-18.9; adjusted P=0.0005) of infants with early onset sepsis were higher than that of uninfected infants. Conclusion: Early onset sepsis remains an uncommon, but potentially lethal problem among very low birth weight infants. Knowledge of the likely causative organisms and risk factors for early onset sepsis can aid in instituting prompt and appropriate therapy, in order to minimize mortality.

Effects of Supplementation of Fat Sources, Ca and Mg on In Vitro Fermentation and the Performance of Finishing Hanwoo Bulls (지방의 공급형태와 Ca 및 Mg의 첨가가 In Vitro 발효 및 비육후기 한우의 성장성적에 미치는 영향)

  • Lee, H.G.;Lee, D.H.;Choi, N.J.;Lee, S.R.;Choi, Y.J.;Maeng, W.J.
    • Journal of Animal Science and Technology
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    • v.46 no.4
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    • pp.613-624
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    • 2004
  • This study was aimed at investigating the effect of fat supplementation with divalent ions such as MgO and $CaCl_2$ on 1) in vitro ruminal fermentation characteristics and insoluble fatty acid formation, and on 2) animal performance in finishing Hanwoo bulls. In in vitro trial, five different types of diets based on supplementation sources of fat and divalent ions, i.e. T=basal diet+4% tallow, T-Ca=T+0.5% $CaCl_2$, T-Mg=TA+0.5% MgO, T-MgCa = T +0.5% $CaCl_2$+0.5% MgO, T-caS =4% Ca salt tallow, were tested. Higher pH values were observed at 6 hr incubation(P<0.01) while higher amount of VFA were produced in diets 4 and 5 at 12 hr incubation(P<0.05). Nutrients(DM, OM, Crude protein and NDF) degradation tended to increase in divalent ions or Ca-salts treated tallow treatments compared with tallow treatment after 12 h. The amount of insoluble fatty acid increased by adding MgO or $CaCl_2$ to tallow or Ca soap tallow during incubation(P<0.05). In in vivo trial, thirty finishing Hanwoo(average BW 460kg) were divided into three groups based on fat sources and divalent ions, i.e. Control(EE 2.40), T-MgCa = control + tallow + $CaCl_2$ + MgO, T-CaS = control + Ca soap tallow (EE 5.30%). After feeding each diet for 80 days, average daily weight gain showed 0.89, 1.02, 1.17kg in diets 1, 2 and 3, respectively. The highest feed efficiency was observed(0.12) in diet 2 group, followed by diet 3 (0.10) and 1 groups(0.08; P < 0.05). In conclusion, the present results could be sununarized that the performance of Hanwoo bulls was improved by tallow with divalent ions without any negative effect on rumen fermentation.

Reflectance and Microhardness Characteristics of Sulfide Minerals from the Sambong Copper Mine (삼봉동광산산(三峰銅鑛山産) 유화광물(硫化鑛物)의 반사도(反射度)와 미경도(微硬度) 특성(特性))

  • Chi, Se Jung
    • Economic and Environmental Geology
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    • v.17 no.2
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    • pp.115-139
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    • 1984
  • The Cu-Pb-Zn-Ag hydrothermal vein-type deposits which comprise the Sambong mine occur within calc-alkaline volcanics of the Cretaceous Gyeongsang Basin. The ore mineralization took place through three distinct stages of quartz (I and II stages) and calcite veins (III stage) which fill the pre-existing fault breccia zones. These stages were separated in time by tectonic fracturing and brecciation events. The reflection variations of one mineral depending on mineralization sequence are considered to be resulted from variation in its chemical composition due to different physico-chemical conditions in the hydrothermal system. The reflection power of sphalerite increases with the content of Fe substituted for Zn. Reflectances of the sphalerite grain are lower on (111) than on (100) surface. The spectral profiles depend on the internal reflection color. Sphalerite, showing green, yellow and reddish brown internal reflection, have the highest reflection power at $544m{\mu}$ (green), $593m{\mu}$ (yellow) and $615m{\mu}$ (red) wavelength, respectively. Chalcopyrite is recognized as biaxial negative from the reflectivity data of randomly oriented grains measured at the most sensitivity at $544m{\mu}$. The microindentation hardness against the Fe content (wt. %) for the sphalerite increases to 8.05% Fe and then decreases toward 9.5% Fe content. Vickers hardness of the sphalerite is considerably higher on surface of (100) than on (111). The relationship between Vickers hardness and crystal orientation of the galena was determined to be $VHN_{(111)}$ > $VHN_{(210)}$ > $VHN_{(100)}$. The softer sulfides have the wider variation of the diagonal length in the indentation. Diagonal length in the indentation is pyrite

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Mineralogical Studies of the Tourmaline for Medicinal Applications by Production Localities (본초 광물로서의 활용을 위한 산지별 전기석의 광물학적 연구)

  • Jie, Yan;Kim, Seon-ok;Park, Hee Yul;Park, Maeng-Eon
    • Economic and Environmental Geology
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    • v.51 no.4
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    • pp.345-358
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    • 2018
  • In this study, we have performed electron probe micro analyzer (EPMA), X-ray differaction (XRD), inductively coupled plasma spectroscopy (ICP), Fourier transform Raman spectroscopy (FT-Raman), far-infrared (FIR), nuclear magnetic resonance (NMR), and pH-DO Analyses for characterizing medicinal mineralogy aspect of the black tourmaline (Shantung, china), black and pink tourmaline (Minas Geraris, Brazil), black touemaline (Daeyu mine, Korea). In addition, heating effects of the tourmaline sauna as well as the effects of tourmaline powder-added soap on skin troubles have been investigated. It has been revealed that chemical composition of the tourmaline is either high in Fe-, Al-, B-rich types. Ratio of the K-Ca, Na-K, and Fe-B reflects the component change property of solid solution. $CaO/CaO+Na_2O$ and MgO/FeO+MgO ratio show high positive correlation. When tourmaline reacts with distilled water, extended reaction time DO values approximately decrease and it stabilizes at DO = 10. Otherwise, pH values increase until 6 hours and it stabilizes at pH = 8 after 24 hours. Distilled water changes to alkaline when it reacts with tourmaline powder and particles. Tourmaline showed lower absorption spectrum strength and transmittance at short wave, where absorption spectrum wavelength and strength were determined by the content of the composition elements and characteristics of crystallography. Increase of the Fe content has been confirmed to be the cause for the reduction of irradiation. For the chemical composition and spectral property of the tourmaline particle samples, it has been found that Si and Fe contents show positive correlation with Far-Infrared irradiation, while Al and Mg contents show negative correlation. For tourmaline powder, it has been confirmed that $^{17}O-NMR$ FWHM (full width at half maximum) decreases when reacts with distilled water. Tourmaline sauna (approximately $100^{\circ}C$) was found to increase $0.5-1.5^{\circ}C$ of body temperature, average of 12 heartbeat, and 10mg Hg of blood pressure. Tourmaline soap had very good aesthetic effect to skin and was confirmed to have above the average improvements to skin troubles (e.g., allergy or atopy).

Effects of Saponin Contained Plant Extracts on Ruminal Fermentation Characteristics and Methane Production (Saponin 함유 식물 추출물의 첨가가 반추위 발효성상과 메탄생성에 미치는 영향)

  • Ok, Ji-Un;Baek, Youl-Chang;Kim, Kyoung-Hoon;Lee, Sang-Cheol;Seol, Yong-Joo;Lee, Kang-Yeon;Choi, Chang-Weon;Jeon, Che-Ok;Lee, Sang-Suk;Lee, Sung-Sil;Oh, Young-Kyoon
    • Journal of Animal Science and Technology
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    • v.53 no.2
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    • pp.147-154
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    • 2011
  • This study was conducted to evaluate the effects of saponin contained plant extracts on in vitro rumen fermentation characteristics and methane production. Ruminal fluid was collected from rumen cannulated Hanwoo steers fed rice straw and concentrate (5:5). Collected rumen fluids, corn starch and buffer including saponin contained plant extracts (ginseng, Ogapi, soapwort, tea plant and yucca; 0.5%/15 ml) were incubated at $39^{\circ}C$ for 24 h. All incubations were repeated five times. Rumen pH in all treatments was lower (p<0.05) compared with that of the control (no addition) during incubation time. The concentration of total VFA in all treatments was higher (p<0.05) than that of the control after 12h incubation. Compared with the control, the concentration of acetate and propionate in all treatments was lower and higher after 6h incubation, respectively. The concentration of $NH_3$-N in all treatments was lower (p<0.05) than that of the control except for Ogapi or yucca extracts supplementation. The number of protozoa in all treatments was significantly (p<0.05) lower than that of the control except for soapwort extract supplementation. The total gas production and methane production in all treatments was higher (p<0.05) and lower (p<0.05) compared with the control, except for ogapi or soapwort extracts supplementation after 12h incubation, respectively. Therefore, reduction in methane production by saponins may could be results from decreased protozoal population without any negative in vitro fermentation.

STUDY ON MUTATION OF P53 AND EXPRESSION OF MDM-2 IN DMBA INDUCED CARCINOMA OF HAMSTER BUCCAL POUCH (DMBA로 유도된 햄스터 협낭암종에서 p53 유전자 변이와 mdm-2 단백의 발현에 관한 연구)

  • Park, Yong-Sun;Kim, Kyung-Wook;Lee, Jae-Hoon;Kim, Chang-Jin
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.27 no.5
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    • pp.373-384
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    • 2001
  • Cellular proliferation is an intricately regulated process mediated by the coordinated interactions of critical growth control genes. Two of these factors in mammalian cells are the p53 and mdm-2 genes. A protein product of the mem-2 oncogene has been recently shown to associate with the protein encoded by the tumor suppressor gene p53. The p53 tumor suppressor protein is stabilized in response to DNA damage and other stress signals and causes the cell to undergo growth arrest or apoptosis, thus preventing the establishment of mutations in future cellular generations. Mutation or loss of p53 is a very common event in tumor progression. It occurs in about 50% of all tumors analysed including of colon, lung, breast and liver. The cellular mdm-2 gene, which has potential transforming activity that can be activated by overexpression, is amplified in a significant percentage of human sarcoma and in other mammalian tumors. Proteins encoded by the mdm-2 gene are able to bind to the p53 protein and, when overexpressed, can inhibit p53's transcriptional activation function, thus mdm-2 can act as a negative regulator of p53 function. Experimental study was performed to observe the relationship between p53 gene mutation and mdm-2 protein expression and apply the results to the clinical activity. 36 golden syrian hamster each weighing $60{\sim}80g$ were used and painted with 0.5% DMBA by 3 times weekly on the right buccal cheek(experimental side) for 6, 8, 10, 12, 14 and 16 weeks. Left buccal cheek(control side) was treated with mineral oil as the same manner to the right side. The hamsters were sacrificed on the 6, 8, 10, 12, 14 & 16 weeks. Normal and tumor tissues from paraffin block were examined for histology and immunohistochemistry observation, and were completely dissected by microdissection and DNA from both tissue were isolated by proteins K/phenol/chloroform extraction. Segments of the hamster p53 exons 5, 6, 7 and 8 were amplified by PCR using the oligonucleotide primers, and then confirmational change was observed by SSCP respectively. The results were as follows : 1. Dysplasia at 6 weeks, carcinoma in situ at 8 weeks and invasive carcinoma from 10 weeks could be observed in experimental groups. 2. p53 mutations were detected in 10 of the 36(28%) and the exons 6(6 of the 10 : 60%) was the most hot spot area among the highy conserved region(exons 5, 6, 7 & 8). 3. Immunohistochemical study confirmed 22 of the 36(61%) of p53 expression involving 10 of p53 mutations. 4. mdm-2 expression of was showed in 3 of the 36(8%) involving 1 of the 22 of p53 expression and 2 of the 14 of p53 non-expression. From the above results, mutation of p53 gene or expression of p53 protein may have the influence of the DMBA induced carcinoma of hamster buccal pouch but the expression of mdm-2 protein may not have relationship with tumorigenesis.

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Noninvasive Prenatal Diagnosis using Cell-Free Fetal DNA in Maternal Plasma: Clinical Applications

  • Yang, Young-Ho;Han, Sung-Hee;Lee, Kyoung-Ryul
    • Journal of Genetic Medicine
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    • v.8 no.1
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    • pp.1-16
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    • 2011
  • Owing to the risk of fetal loss associated with prenatal diagnostic procedures (amniocentesis, chorionic villus sampling), noninvasive prenatal diagnosis (NIPD) is ultimate goal of prenatal diagnosis. The discovery of circulating cell-free fetal DNA (cffDNA) in maternal plasma in 1997 has opened up new probabilities for NIPD by Dr. Lo et al. The last decade has seen great development in NIPD. Fetal sex and fetal RhD status determination by cffDNA analysis is already in clinical use in certain countries. For routine use, this test is limited by the amount of cell-free maternal DNA in blood sample, the lack of universal fetal markers, and appropriate reference materials. To improve the accuracy of detection of fetal specific sequences in maternal plasma, internal positive controls to confirm to presence of fetal DNA should be analyzed. We have developed strategies for noninvasive determination of fetal gender, and fetal RhD genotyping using cffDNA in maternal plasma, using real-time quantitative polymerase chain reaction (RT-PCR) including RASSF1A epigenetic fetal DNA marker (gender-independent) as internal positive controls, which is to be first successful study of this kind in Korea. In our study, accurate detection of fetal gender through gestational age, and fetal RhD genotyping in RhD-negative pregnant women was achieved. In this assay, we show that the assay is sensitive, easy, fast, and reliable. These developments improve the reliability of the applications of circulating fetal DNA when used in clinical practice to manage sex-linked disorders (e.g., hemophilia, Duchenne muscular dystrophy), congenital adrenal hyperplasia (CAH), RhD incompatibility, and the other noninvasive pregnant diagnostic tests on the coming soon. The study was the first successful case in Korea using cffDNA in maternal plasma, which has created a new avenue for clinical applications of NIPD.

Variation of Oxygen Consumption, Operculum Movement Number and Hemoglobin by Water Temperature Change in Rainbow Trout Oncorhynchus mykiss (수온변화에 따른 무지개송어(Oncorhynchus mykiss)의 산소소비, 아가미 호흡수 및 헤모글로빈 변화)

  • So, Sang-Yeong;Hur, Jun Wook;Lee, Jeong-Yeol
    • Korean Journal of Ichthyology
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    • v.20 no.4
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    • pp.239-247
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    • 2008
  • The objective of this investigation was to examine oxygen consumption (OC) and operculum movement number (OMN) of rainbow trout Oncorhynchus mykiss as a function of changes in water temperature (WT). The WT of the rearing facility was increased from $4^{\circ}C$ to $28^{\circ}C$ stepwise at $1^{\circ}C$ day at each WT (5, 10, 15, 17, 20, 23, 26, and $28^{\circ}C$) then OC and OMN were measured. The OC of the fish increased linearly with WT: O=25.0240 WT+17.5400 in the range of $4{\sim}23^{\circ}C$ However, at 26 and $28^{\circ}C$ the OC declined to around the level at $10^{\circ}C$. The OMN also increased linearly with temperature: OMN=4.4847 WT+59.2150 in the range of $4{\sim}23^{\circ}C$ but at 26 and $28^{\circ}C$ the OMN of the fish dropped slightly. The OC and OMN of the fish showed peak at $23^{\circ}C$ with the lowest values at $4^{\circ}C$. In the range of $4{\sim}23^{\circ}C$, the relationship between OC and OMN of the fish was expressed as a linear equation: OC=0.0923 OMN-308.2100. The OC of fish transferred from $15^{\circ}C$ to certain temperatures without acclimation showed a lower OC at 5 and $10^{\circ}C$ but above $15^{\circ}C$ the OC increased/decreased with temperature. The trout died in temperatures above $28^{\circ}C$ even when acclimated step by step with a $1^{\circ}C$ day increase in WT. In this experiment, a negative physiological changs occurred in the experimental fish at $23^{\circ}C$ suggesting that the optimal physiological temperature range of rainbow trout is $10{\sim}20^{\circ}C$.

A Longitudinal Study of the Effects of Media Use on the Evaluation of the Leading Candidate in the Korean 2007 Presidential Election -An Analysis of the Panel Data with Latent Growth Modeling- (미디어 이용이 후보자 평가에 미치는 영향에 대한 종단연구 -잠재성장모형을 통한 17대선 패널 데이터 분석을 중심으로-)

  • Kim, Joo-Han;Kim, Min-Gyu;Jin, Young-Jae
    • Korean journal of communication and information
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    • v.44
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    • pp.76-107
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    • 2008
  • The present study has explored the effects of media use on the evaluation of the presidential candidate's morality. We hypothesized that the perception of the candidates' morality during the 2007 Korean President Election would be influenced by the amount of the different types of media use. Using a set of panel data, a total of 1,199 citizens (584 females (48.7%), 615 males (51.3%), Mage=42.77, SDage=13.34) were assessed four times from August to December in 2007. The results indicated that (a) the level of TV use for political information, the level of newspaper use for political information, and the level of Internet use for political information increased during the five months; (b) the initial level of political involvement contributed differently to the initial levels of media use; (c) the initial level of political involvement negative influenced the initial level of TV use for political information; (d) the growth of political involvement positively influenced the growth of TV use for political information; (e) the intial level of TV use for political information increased both the initial levels of the perception of candidates' morality and the change of the perception of candidates' morality; (f) the change of TV use for political information negatively affected the perception of candidates' morality; and (g) the initial level of Internet use for political information negatively affected the initial level of the perception of candidates' morality, and the change of Internet use for political information negatively affected the perception of candidates' morality.

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