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Three Cases of Mitochondrial Disorders in the Neonatal Period (신생아기에 진단된 미토콘드리아 질환 3례)

  • Kim, Yoon-Hee;Lee, Young-Mock;Namgung, Ran;Kim, Jeong-Eun;Lee, Soon-Min;Park, Kook-In;Kim, Se-Hoon;Lee, Jin-Sung
    • Neonatal Medicine
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    • v.17 no.2
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    • pp.254-261
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    • 2010
  • Little is known about neonatal mitochondrial disease, though mitochondrial metabolic disorders may often present in the neonatal period because of the high energy requirement of neonate. In newborn period, common presentations are not specific and the disease course may be rapid and fatal. In this study, we report three cases of neonatal mitochondrial disease. The first case was strongly suspected because of sudden seizure and mental change with severe lactic acidosis, and multiorgan failure. Plasma lactate/pyruvate (L/P) ratio was increased to 55.6 with marked lactic aciduria and increased plasma alanin up to 2,237 nmol/mL. In the second patient, a peritoneal dialysis was performed for acute adrenal and renal failure, but metabolic acidosis persisted. Plasma L/P ratio was increased to 23.9, and MRC I (mitochondrial respiratory chain defect) was diagnosed through the enzymatic analysis of the muscles. The third case showed repetitive episode of lactic acidosis during the first two months of life, hypotonia, failure to thrive and feeding difficulties. We found markedly increased cerebrospinal fluid L/P ratio up to 57 though plasma L/P ratio(19.4) was borderline with increased plasma lactate. The lactate peak was prominent in brain magnetic resonance spectroscopy (MRS). MRC II was confirmed through muscle biopsy. Plasma lactate level and lactate peak of brain MRS were normalized after conservative treatment.

Ecological Impact Analysis of a Stream on the Dam Construction Using Species Biotic Index (SBI) as a Tool of Ecosystem Health Assessment

  • An, Kwang-Guk;Kim, Jai-Ku
    • Korean Journal of Ecology and Environment
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    • v.40 no.4
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    • pp.495-502
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    • 2007
  • Species biotic index (SBI), based on a fish assemblage, was applied to a stream assessment using long-term ecological fish data set (1996 to 2001) in Boryong dam area, which is located in the mainstream of Ungchun Stream of Chungnam province, Korea. According to the methods of Hilsenhoff (1988), the scores of tolerance guild assigned 10 classes to each species by its habitat and feeding guild, but modified current 7 criteria to 5 scoring standards due to unclear borderline among species. Relative abundance in the species number of upper stream guilds was only 7% of the total, whereas the abundance in the species number of middle to downstream upper stream guilds was 64%. Mean SBI, based on dataset in Site 1 during 1995-2001 averaged 5.10, which was judged as a "good" condition by the rank criteria of SBI. Before the dam construction, mean SBI in the Site 1 was 4.61, indicating a "good" condition, but after the dam construction, mean SBI was 5.60, indicating a "fair" condition. Trajectory analysis in the Site 1 showed significantly (One-way ANOVA, $F_{6,21}=3.26$, p=0.02) different among years, reflecting the changes of fish composition and population density by the dam construction, whereas Site 2 showed no significant changes ($F_{6,21}=1.00$, P =0.45) difference among years. Mean SBI prior to the dam construction in the Site 3 was 4.52 but after the construction, the value was 6.30, indicating a distinct difference between the pre- and post-dam construction. Trajectory analysis at the Site 3 supported this fact: Values of SBI showed significantly ($F_{6,21}$=14.37, p<0.01) different. Mean SBI was 4.67 in the Site 4, indicating a "good" condition in the health and the health rank was same as the sampling sites 1, 2, and 4. Trajectory in the Site 4 showed no significant ($F_{6,21}=2.35$, p=0.07) difference among the years. Overall, our trajectory analysis indicated that three of four sampling sites (sites 1, 3, 4) showed significant decreases (n=7, p<0.05) and that the proportions of sensitive species declined evidently in the sites 1 and 2 and the tolerant species increased in the dam sites. Our outcomes may be used as a key data for diagnosis of the long-term ecological impact in the future in the watershed.

Predictive Value of IHC4 Score for Pathological Response to Neoadjuvant Chemotherapy in Hormone Receptor-Positive Breast Cancer

  • Elsamany, Shereef;Elmorsy, Soha;Alzahrani, Abdullah;Rasmy, Ayman;Abozeed, Waleed N;Mohammed, Amrallah A;Sherisher, Mohamed A;Abbas, Mohammed M;Mashhour, Miral
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.17
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    • pp.7975-7979
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    • 2015
  • Purpose: This study aimed to explore the value of IHC4 in predicting pathological response after neoadjuvant chemotherapy in patients with hormonal receptor (HR)-positive breast cancer (BC). Materials and Methods: In this retrospective exploratory study, data for 68 HR-positive BC patients who received neoadjuvant chemotherapy were recorded. IHC4 scores were calculated based on estrogen receptors/progesterone receptors, Ki-67 and HER2 status. Logistic and ordinal regression analyses in addition to likelihood ratio test were used to explore associations of IHC4 scores and other clinico-pathological parameters with pathological complete response (pCR) and pathological stage. Results: Taking the 25th percentile as the cut-off, a lower IHC4 score was associated with an increased probability of pCR (low; 52.9% vs. High; 21.6%, OR=4.1, 95% CI=1.28-13.16, p=0.018) and a lower pathological stage (OR=3.9, 95% CI=1.34-11.33, p=0.012). When the IHC4 score was treated as a continuous variable, a lower score was again associated with an increased probability of pCR (OR=1.010, 95% CI=1.001-1.018, p=0.025) and lower pathological stage (OR=1.009, 95% CI=1.002-1.017, P=0.008). Lower clinical stage was associated with a better pCR rate that was of borderline significance (P=0.056). When clinical stage and IHC4 score were incorporated together in a logistic model, the likelihood ratio test gave a P-value of 0.004 after removal of the IHC4 score and 0.011 after removal of the stage, indicating a more significant predictive value of the IHC4 score for pCR. Conclusions: This study suggests that the IHC4 score can predict pathological response to neoadjuvant chemotherapy in HR-positive BC patients. This finding now needs to be validated in a larger cohort of patients.

Role of a Risk of Malignancy Index in Clinical Approaches to Adnexal Masses

  • Simsek, Hakki Sencer;Tokmak, Aytekin;Ozgu, Emre;Doganay, Melike;Danisman, Nuri;Erkaya, Salim;Gungor, Tayfun
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.18
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    • pp.7793-7797
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    • 2014
  • Objective: The aim of this study was to evaluate predictive role of risk of malignancy index in discriminating between benign and malignant adnexal masses preoperatively. Methods: This retrospective study was conducted with a total of 569 patients with adnexal masses/ovarian cysts managed surgically at our clinic between January 2006 and January 2012. Obtained data from patient files were age, gravidity, parity, menopause status, ultrasound findings and CA125 levels. For all patients ultrasound scans were performed. For the assessment of risk of malignancy index (RMI) Jacobs' model was used. Histopathologic results of all patients were recorded postoperatively. Malignancy status of the surgically removed adnexal mass was the gold standard. Results: Of the total masses, 245 (43.1%) were malignant, 316 (55.5%) were benign and 8 (1.4%) were borderline. The mean age of benign cases was lower than malign cases ($35.2{\pm}10.9$ versus $50.8{\pm}13.4$, p<0.001). Four hundred and five of them (71.2%) were in premenopausal period. Malignant tumors were more frequent in postmenopausal women (81% versus 29%, p<0.001). All ultrasound parameters of RMI were statistically significantly favorable for malignant masses. In our study ROC curve analysis for RMI provided maximum Youden index at level of 163.85. When we based on cutoff level for RMI as 163.85 sensitivity, specificity, PPV, NPV was calculated 74.7%, 96.2%, 94% and 82.6%, respectively. Conclusions: RMI was found to be a significant marker in preoperative evaluation and management of patients with an adnexal mass, and was useful for referring patients to tertiary care centers. Although utilization of RMI provides increased diagnostic accuracy in preoperative evaluation of patient with an adnexal mass, new diagnostic tools with higher sensitivity and specificity are needed to discriminate ovarian cancer from benign masses.

Modification of Cutoff Values for HE4, CA125, the Risk of Malignancy Index, and the Risk of Malignancy Algorithm for Ovarian Cancer Detection in Jakarta, Indonesia

  • Winarto, Hariyono;Laihad, Bismarck Joel;Nuranna, Laila
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.5
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    • pp.1949-1953
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    • 2014
  • Background: CA125 and HE4 are used in calculating Risk of Malignancy Algorithm (ROMA); and Risk of Malignancy Index (RMI). However, studies showed that normal levels of CA125, and HE4 differ among ethnicities such as between Asians and Caucasians, thus affecting the accuracy of the RMI score and ROMA in predicting ovarian malignancy. This study aimed to determine whether new or modified cutoff values for Ca125, HE4, the RMI score, and ROMA resulted in a better prediction of malignancy compared with the previous or standard ones. Materials and Methods: Serum level of CA125 and HE4 from 128 patients with diagnosis of ovarian tumor that had been collected before surgery at Cipto Mangunkusumo General Hospital (CMH) in Jakarta from November 2010 until May 2011 were reviewed and analysed. The standard cutoff values of these biomarkers, RMI, and ROMA were modified by using logistic regression model. The modified cutoff values were compared to the standard cutoff values in terms of sensitivity, specificity, and accuracy. Results: The modified cutoff value of CA125, HE4, RMI score and ROMA were 165.2 U/mL, 103.4 pM, 368.7, 28/54. The sensitivity and specificity of the modified cutoff values CA125, HE 4, RMI score and ROMA in differentiating benign from malignant and borderline were 67% and 75,4%; 73.1% and 85.2%; 73.1% and 80.3%; and 77.6% and 86.9%. While the sensitivity and specificity of the standard cutoff value of CA125; HE4; RMI score; and ROMA were 91% and 24.6%; 83.6% and 65%; 80.6% and 65.6%; and 91.0% and 42.6%. The accuracy of modified cutoff values compared with standard cutoff values were: 71.2% vs 59.3%, 78.9% vs 75% vs, 76.5% vs 73.4%, and 82% vs 67.9%. Conclusions: The new or modified cutoff values of Ca125, HE4, RMI score and ROMA resulted in higher accuracy compared to the previous or standard ones, at the cost of reduced sensitivity.

Effect of Hormone Therapy on Long-term Outcomes of Patients with Human Epidermal Growth Factor Receptor 2-and Hormone Receptor-Positive Metastatic Breast Cancer: Real World Experience in China

  • Du, Feng;Yuan, Peng;Wang, Jia-Yu;Ma, Fei;Fan, Ying;Luo, Yang;Xu, Bing-He
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.3
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    • pp.903-907
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    • 2015
  • Background: Among human epidermal growth factor receptor 2 (HER2)-positive breast cancer, more than half are also hormone receptor (HR)-positive. Although HR is a predictive factor for the efficacy of hormone therapy, there are still some uncertainties in regard to the effects on patients with HR-positive and HER2-positive metastatic breast cancers due to the potential resistance to hormone therapy caused by co-expression of HR and HER2. There are no clinical trials directly comparing the efficacy of hormonal therapy with chemotherapy. Materials and Methods: To examine the real-world effect of hormone therapy on patients with HR-positive and HER2-positive metastatic breast cancers, a cross-sectional study of a representative sample of the Chinese population was conducted. The study included 113 patients who received first-line and second-line palliative treatment between 2005 and 2010 in the Cancer Institute and Hospital, Chinese Academy of Medical Science. The effect of hormone therapy on overall survival (OS) was studied. Results: The patients who received hormone therapy (n=51) had better overall survival in contrast to those who received chemotherapy with anti-HER2 therapy (n=62) in first- or second-line treatment. The difference was of borderline statistical significance (51.8m vs 31.9m, p=0.065). In addition, the effect of hormone therapy did not differ significantly with other prognostic factors, including age (${\leq}50$ years or >50 years), disease free survival (${\geq}2$ years or < 2 years) and site of metastasis (visceral or bone/soft tissue). On multivariate analysis, administration of hormone therapy was associated with a trend toward a favorable prognosis (p=0.148, HR=0.693, 95%CI 0.422-1.139). Age more than 50 years was the sole independent harmful prognostic factor (p<0.001, HR=2.797, 95%CI 1.676-4.668). Conclusions: Our data suggest that hormonel therapy may improve outcomes of the patients with ER-positive and HER2-positive metastatic breast cancer.

Understanding Sensible Design through John Dewey's Transaction (존 듀이의 트랜스액션을 통한 감성디자인 이해)

  • Huh, Jin
    • The Journal of the Korea Contents Association
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    • v.13 no.1
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    • pp.156-163
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    • 2013
  • In the past, the enlargement of perception through media was 'information'. From now on, however, the primary objective of media is to consist not in conveying information but in sharing the values of 'emotion' and 'experience' that are perceived through information. Individual emotional becomes an issue due to the limitations of the ideology of modernism and the pervasiveness of the autonomous perception in the human thinking that started in postmodernism. If we once again talk about a function-focused, sensible approach for the sake of marketing in the current era that has impinged on the limits of mammonism, we must keep in mind that 'emotion,' presently retaken as the originary, human value and the value of new communication, may come to an end any time. Therefore, th current thesis is designed to examine John Dewey's 'transaction' as a method for figuring out the concept of emotion, the perceptional function latent in humans. Dewey's 'transaction,' which is a term that refers to the reciprocal relationships between humans and environment and the accompanying totality of perceptive process, interprets human emotion, user experience and environment as the organic, circular relationships. For such understanding, one must break out of the boundary of the past, dichotomous communication between the subject and the object to expand into the perceptional relations in a wider environment, in order to seek design methods that would help dismantle the borderline that has so far separated the developer from the user, share sensibilities, and express experiences.

Applicability of Thoracolumbar Injury Classification and Severity Score to Criteria of Korean Health Insurance Review and Assessment Service in Treatment Decision of Thoracolumbar Injury

  • Choi, Hyuk Jin;Kim, Hwan Soo;Nam, Kyoung Hyup;Cho, Won Ho;Choi, Byung Kwan;Han, In Ho
    • Journal of Korean Neurosurgical Society
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    • v.57 no.3
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    • pp.174-177
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    • 2015
  • Objective : For improving the drawbacks of previous thoracolumbar spine trauma classification, the Spine Trauma Study Group was developed new classification, Thoracolumbar Injury Classification and Severity Score (TLICS). The simplicity of this scoring system makes it useful clinical application. However, considering criteria of Korean Health Insurance Review and Assessment Service (HIRA), the usefulness of TLICS system is still controversial in the treatment decision of thoracolumbar spine injury. Methods : Total 100 patients, who admitted to our hospital due to acute traumatic thoracolumbar injury, were enrolled. In 45, surgical treatment was performed and surgical treatment was decided following the criteria of HIRA in all patients. With assessing of TLICS score and Denis's classification, the treatment guidelines of TLICS and Denis's classification were applied to the criteria of Korean HIRA. Results : According to the Denis's three-column spine system, numbers of patients with 2 or 3 column injuries were 94. Only 45 of 94 patients (47.9%) with middle column injury fulfilled the criteria of HIRA. According to TLICS system, operation required fractures (score>4) were 31 and all patients except one fulfilled the criteria of HIRA. Conservative treatment required fractures (score<4) were 52 and borderline fracture (score=4) were 17. Conclusion : The TLICS system is very useful system for decision of surgical indication in acute traumatic thoracolumbar injury. However, the decision of treatment in TLICS score 4 should be carefully considered. Furthermore, definite criteria of posterior ligamentous complex (PLC) injury may be necessary because the differentiation of PLC injury between TLICS score 2 and 3 is very difficult.

Habitat Characteristics and Distribution of Cymbidium kanran Native to Jejudo, Korea (제주한란의 자생환경 특성 및 분포에 관한 연구)

  • Lee, Jong Suk
    • Journal of the Korean Society of Environmental Restoration Technology
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    • v.7 no.1
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    • pp.40-49
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    • 2004
  • This work carried out to define the characteristic of Cymbidium kanran habitat at Mt. Halla in Jejudo, Korea from the ecological point of view including geological and topographical features, air and soil temperature, relative humidity, fluctuations of light intensity, habitat vegetation, distribution altitude, area limit, and etc. And another goal of this study consider the conservation counterplan of the cymbidium habitat. Natural distribution areas of the cymbidium were observed more abundantly on the well drained south and east-facing slopes. Soil acidity was ranged from pH 4.1 to 5.3, and electric conductivity was ranged from 176.4 to 299.9 us/cm (average 215.3 us/cm). Base-saturation percentage of the habitat soil was below 50%, bulk density 0.42g/$cm^2$, particle density 2.05g/$cm^2$, humus content 26%, total nitrogen 0.82%, available phosphate 4.2 mg/kg, exchangeable potassium 0.63 Cmol/kg, calcium 0.44 Cmol/kg and magnesium 0.67 Cmol/kg. Annual mean air temperature was $15.4^{\circ}C$, however, air temperature was ranged $11.7{\sim}18.2^{\circ}C$ in spring, $21.2{\sim}23.8^{\circ}C$ in summer, $12.8{\sim}22.0^{\circ}C$ in fall and $5.5{\sim}7.8^{\circ}C$ in winter season. Annual mean soil temperature at depth of 10cm was $13.2^{\circ}C$ And minimum value was recorded $4.7^{\circ}C$ on January, and maximum value $22.5^{\circ}C$ on August. Relative humidity was ranged 90.8~94.7% in summer, 80.8~91.5% in fall and 77.6~84.2% in winter season. Minimum value was 56.5% on December, and maximum value was 100% on July and August. Light intensities were ranged from 400 to 1,800 lux at the greater part of Cymbidium kanran sites in Jejudo. Summer regarded as an lower light intensities was recorded to be range of 500~600 lux; however, autumn and winter were shown higher light regimes ranged from 3,500 to 3,800 lux. Therefore, one must be suprised that the cymbidium grow at the light condition of 6 lux (minimum) or 10,000 lux (maximum). Tree species keeping higher frequency rate and density were Eurya japonica, Camellia japonica, Castanopsis cuspidata, Carpinus laxiflora and Pinus densiflora. Number of trees growing in a 5${\times}$5m quardrat was 35 as an average, and proportion of evergreen versus deciduous was 5:1. Distribution altitude of the orchid habitat was ranged from 120m (low) to 840m (high) from sea level on the south facing slope of Mt. Halla, and was ranged eastern borderline of Gujwaup, Bukjejugun to western boundaries of Jungmundong, Seogwipo city. For the stable conservation of Cymbidium kanran habitat, sunlight regimes must be increased more by means of cutting trees or twigs in the site.

Membranous Nephropathy Associated with Epstein-Barr Virus Infection in a Child (소아에서 엡스타인-바 바이러스 감염과 관련한 막성 신병증 1례)

  • Lee, Eun-Hee;Lim, Dong-Hee;Yim, Hyung-Eun;Yoo, Kee-Hwan;Won, Nam-Hee;Hong, Young-Sook;Lee, Joo-Won
    • Childhood Kidney Diseases
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    • v.12 no.1
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    • pp.88-92
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    • 2008
  • Infection of Epstein-Barr virus(EBV) gives rise to a broad spectrum of clinical manifestations in children. Although renal involvement is rare, diverse renal manifestations are known from hematuria to acute renal failure. Secondary membranous nephropathy(MN) associated with systemic EBV infection is an uncommon renal pathology and only two cases have been reported. We are adding another case of MN associated with EBV infection in a child. An 8-year-old girl was admitted for renal biopsy. She had been followed up for microscopic hematuria and intermittent proteinuria for 5 months. There had been no specific findings in serology and radiology. Tonsil biopsy had been done due to exudative tonsillar hypertrophy and enlarged multiple cervical lymph nodes. And it showed EBV-associated lymphoproliferative findings. Serologic tests for EBV showed positive evidence of recent infection; viral capsid antigen(VCA) IgM was borderline positive, VCA IgG and early antigen IgG were positive, and EB nuclear antigen IgG was negative. In Situ Hybridization of tonsil for EBV mRNA was positive. Because her proteinuria and hematuria were aggravated at that time(protein 3 +, RBC >60/HPF), renal biopsy was done. Renal biopsy showed the findings of MN, characterized by thickened capillary walls with epimembranous spikes on light microscopy and subepithelial, mesangial and subendothelial electron dense deposits on electron microscopy. On immunofluorescence microscopy, IgG, C1q, kappa and lambda chains were positive. After steroid administration, proteinuria and hematuria resolved gradually within 6 months.

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