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Clinical Findings of Phenylketonuria Patients in Korea (페닐케톤뇨증의 임상적 고찰)

  • Shin, Ik Soon;Lee, Dong Hwan
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.12 no.1
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    • pp.14-22
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    • 2012
  • Objectives: This study was performed to review clinical manifestations of hyperphenylalaninemia patients in Korean. Methods: 178 cases of hyperphenyalaninemia were diagnosed at department of pediatrics, Soonchunhyang University Hospital from January, 1983 to August. We reviewed DNA analysis, MR imaging, EEG, radiography of the left hand and wrist, bone densitometry (BMD), IQ test of hyperphenyalaninemia patients. Results: Out of 178 cases, 161 cases were diagnosed classic phenylketonuria and 17 cases were diagnosed BH4 deficiency. 122 cases performed DNA analysis. R243Q (10.3%), Y204C (9.9%), and IVS4-1G>A (8.1%) mutations were predominant. 22 cases underwent MR imaging. Varying degrees of symmetrical high signal intensity were noted on T2-weighted sequences in the periventricular deep white matter of 15 cases. 23 cases were performed EEG. 12 cases (52.3%) showed abnormal pattern. EEG abnormalities showed in 11 cases. On lumbar BMD four of 11 cases (36%) showed reduced bone density of more than 1 S.D. in four of 11 cases, bone age was less than chronological age by at least one year. 18 cases were performed IQ test. Mean IQ scores was $84{\pm}21.6$. Among older than 15 years (9 cases), Mean IQ scores was $72{\pm}21.2$. PTPS deficiency was 14 cases, DHPR deficiency was 2 cases, and GTPCH deficiency was 1 case. Conclusion: We confirmed there were varieties of DNA mutations. And MR imaging and EEG were nonspecific in PKU patients. Older children showed lower IQ score. Low phenylalanine diet prevents brain damage in PKU patient. Not only first few years of life but also lifetime, Keeping low phenylalanine diet is important.

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Relationships of Serum Leptin Levels with Bone Metabolism in the Childhood Obesity (소아 비만에서 Leptin과 골대사의 연관성)

  • Kim, Eun Young;Rho, Young il;Yang, Eun Seok;Moon, Kyung Rae;Park, Sang Kee;Park, Yeong Bong;Lee, Young Hwa
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.9 no.2
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    • pp.226-232
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    • 2006
  • Purpose: The aim of this study was to evaluate the influence of leptin on biochemical markers of bone metabolism in childhood obesity. Methods: A total of 50 male children (25 obese and 25 controls) were recruited from the pediatric outpatient clinic at the Chosun University Hospital from November 1st 2005 to May 30th 2006. BMI, body fat percentage, serum leptin, bone-specific alkaline phosphatase (B-ALP), C-terminal propeptide of type 1 collagen (CICP), total deoxypyridinoline crosslinks (total DPD) were measured. The correlations of leptin with BMI, body fat percentage, B-ALP, CICP, total DPD were analyzed by Pearson's correlation. In a multiple stepwise regression analysis, leptin after correction for body weight was evaluated if there was a correlation with biochemical markers of bone formation and resorption respectively. Results: The leptin levels of the obese group were significantly higher than those of the control group (p=0.012). In the obese group, the leptin level was significantly positively correlated with the BMI (r=0.551, p=0.01) and the percentage of body fat (r=0.584, p=0.018). In the obese group, of bone markers, B-ALP (r=-0.613, p=0.026) and CICP (r=-0.583, p=0.037) were negatively correlated with leptin. B-ALP (r=-0.728, p=0.007) and CICP (r=-0.684, p=0.014) were negatively correlated with leptin when corrected for body weight. In the control group, bone markers were not correlated with leptin. In the multiple stepwise regression analyses, there was a negative correlation between the leptin and B-ALP (Y=-39.653X+356.341, p=0.026), CICP (Y=-13.437X+ 116.013, p=0.037) respectively in the obese group. Conclusion: Leptin was a significant factor in the bone formation but not in bone resorption in childhood obesity.

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Comparative Analysis of Medical Terminology Among Korea, China, and Japan in the Field of Cardiopulmonary Bypass (한.중.일 의학용어 비교 분석 - 심폐바이패스 영역를 중심으로 -)

  • Kim, Won-Gon
    • Journal of Chest Surgery
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    • v.40 no.3 s.272
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    • pp.159-167
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    • 2007
  • Background: Vocabularies originating from Chinese characters constitute an important common factor in the medical terminologies used 3 eastern Asian countries; Korea, China and Japan. This study was performed to comparatively analyze the medical terminologies of these 3 countries in the field of cardiopulmonary bypass (CPB) and; thereby, facilitate further understanding among the 3 medical societies. Material and Method: A total of 129 English terms (core 85 and related 44) in the field of CPB were selected and translated into each country's official terminology, with help from Seoul National University Hospital (Korea), Tokyo Michi Memorial Hospital(Japan), and Yanbian Welfare Hospital and Harbin Children Hospital (China). Dictionaries and CPB textbooks were also cited. In addition to the official terminology used in each country, the frequency of use of English terms in a clinical setting was also analyzed. Result and Conclusion: Among the 129 terms, 28 (21.7%) were identical between the 3 countries, as based on the Chinese characters. 86 terms were identical between only two countries, mostly between Korea and Japan. As a result, the identity rate in CPB terminology between Korea and Japan was 86.8%; whereas, between Korea and China and between Japan and China the rates were both 24.8%. The frequency of use of English terms in clinical practices was much higher in Korea and Japan than in China. Despite some inherent limitations involved in the analysis, this study can be a meaningful foundation in facilitating mutual understanding between the medical societies of these 3 eastern Asian countries.

The Role of GADD45 ${\beta}$ in Acute Myocardial Injury (급성 심근 손상에서 GADD45 ${\beta}$의 역할)

  • Cho, Suk-Ki;Hong, Jong-Myeon;Lee, Hak-Mo;Oh, Byong-Chul;Lee, Jae-Woong;Lee, Jeong-Ryul
    • Journal of Chest Surgery
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    • v.41 no.1
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    • pp.25-33
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    • 2008
  • Background: A critical shortage of donor organs has necessitated an investigation of new strategies to increase the availability of additional organs available for human transplantation. We investigated the amount of apoptosis and expression of GADD45 ${\beta}$ in two groups, a GADD45 ${\beta}$-transfected group and untransfected group. Material and Method: The experimental groups consist of a control group (normal H9C2 cell line) and GADD45 ${\beta}$-transfected group. After injury of the each group, we evaluated the expression of GADD45 ${\beta}$ and the level of apoptosis in each group. Result: There was a significant increase in the expression of GADD45 ${\beta}$ in the GADD45 ${\beta}$-transfected group at 1 hour, 2 hours, and 3 hours after stimuli as compared with the control group. The amount of cardiac myoblast cell line apoptosis was significantly lower in the GADD45 ${\beta}$-transfected group as compared with the control group. The concentration of annex in in the GADD45 ${\beta}$-transfected group was significantly lower than that of the control. group after cell. injury. Conclusion: Transfection of a rat myoblast cell line with the GADD45 ${\beta}$ gene results in. decreased susceptibility to cell injury of human serum.

Simultaneous Determination of Water Soluble Vitamins B Group in Health Functional Foods etc. by HPLC (건강기능식품 등 중 수용성 비타민 B군의 HPLC를 이용한 동시분석법)

  • Kim, Seon Hee;Kim, Jae-Hyun;Lee, Hwa Jung;Oh, Jae Myoung;Lee, Sung Hye;Bahn, Kyeong Nyeo;Seo, Il Won;Lee, Young Joo;Lee, Jin Hee;Kang, Tae Seok
    • Journal of Food Hygiene and Safety
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    • v.30 no.2
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    • pp.143-149
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    • 2015
  • This study was conducted to simultaneous analysis methods for water soluble vitamins B group (vitamin $B_1$, vitamin $B_2$, nicotinic acid, nicotinamide, vitamin $B_6$) which is used as health functional foods etc. Analytical methods of water-soluble vitamins B group by HPLC were established through instrumental analytical conditions, and the examination of data such as domestic and foreign reliable methods, and papers of journal. HPLC method analyzing water soluble vitamins B group was established using Capcell Pak C18 UG 120 column in 270 nm through test of columns. The validation has been performed on the method to determine linearity, accuracy, limits of quantification (LOQ) and repeatability for water soluble vitamins B group. An excellent linearity ($r^2=0.999$) was observed for vitamin $B_1$, vitamin $B_2$, nicotinic acid, nicotinamide, vitamin $B_6$ in the concentration range ($0.1{\sim}2{\mu}g/mL$). Observed recovery of vitamin $B_1$ was found to be between 100 and 103%, vitamin $B^2$ was found to be between 104 and 112%, nicotinic acid was found to be between 82 and 85%, nicotinamide was found to be between 121 and 124% and vitamin $B_6$ was found to be between 95 and 104%. LOQ of vitamin $B_1$ was found to be $0.04{\mu}g/mL$, vitamin $B_2$ was found to be $0.05{\mu}g/mL$, nicotinic acid was found to be $0.15{\mu}g/mL$, nicotinamide was found to be $0.08{\mu}g/mL$ and vitamin $B_6$ was found to be $0.63{\mu}g/mL$. Repeatability precision for vitamin $B_1$ was found to be 0.4%, vitamin $B_2$ was found to be 0.4%, nicotinic acid was found to be 0.5%, nicotinamide was found to be 0.7% and vitamin $B_6$ was found to be 0.4% relative standard deviation (RSD). Also, verify the accuracy of the simultaneous analysis methods, we monitored the labeled contents of the health functional foods and children's preferred foods.

The Future Prospect of the Studies on the Objectification of Sasang Constitution (사상체질진단(四象體質診斷)의 객관화(客觀化) 연구(硏究)에 대한 현황(現況) 및 전망(展望))

  • Song, Il-byung
    • Journal of Sasang Constitutional Medicine
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    • v.10 no.1
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    • pp.1-11
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    • 1998
  • Constitution means to combine the function into the body. It also includes the genetic factor and the environmental factor. Sasang Constitutional Medicine has the organized and unique ideas of the theory and the practice. So it is widly used in korea. But It has a problem to be popular. That's the objectification of Sasang constitution. There are so many studies to classify Sasang constitution analytic and objectively. I try to classify the studies to identify Sasang constitution objectively and check the problems. 1. The morphologic studies of Sasang Constitution are dividied into the figure and the face-speech through the morphologics and the phonetics. We need to standardize and make a simple method through computer software. 2. The study of the mind is used by the questionnaire about the telent, the character, and the greed each constitution. Recently QSCC II computer software is made and is used at many clinics in Korea. We need to recheck children and Taeyangin. 3. The symptom and the disease are subjective. So the study of them is usually used by some diagnostic equipments. But these have to be revaluated on the view of Oriental Medicine and Sasang Constitutional Medicine and try to study the objectification of Sasang constitution. And then we must try to objectify Sasang constitutional disease. 4. Disease and symptoms have to be studied much more about the mechanism and the relation. The study of medicine was done the way of the homeopathy using EAV. But that had some problems. So it should depend on the new science.

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A Study on the Actual Conditions of Denture Prosthodontics used by the Elderly Aged 65 or Older in Seoul (시술장소에 따른 65세 이상 노인의 의치보철 실태 조사연구)

  • Jung, Jung-Ock
    • Journal of dental hygiene science
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    • v.7 no.3
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    • pp.113-119
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    • 2007
  • This study attempts to find factors contributing to the use pattern of prosthetics by investigating the current condition of prosthetics for the aged of over 65 years old by place of practice. Among those of over 65 years old who live in Gangnam-gu, Seocho-gu, Seongbuk-gu, and Gwanak-gu of Seoul and use the apartment senior's center, those having prosthetics were selected as subjects of this study, and this study was conducted in forms of interview and record. Findings of this study are summarized as follows: First, in regard of the state of prosthetics and relevant symptoms in the mouth according to the place of prosthetics practice, there was significant difference in the questions except the medical benefit of prosthetics between unlicensed facilities and dental clinics and hospitals. Second, regarding difference in satisfaction according to the place of prosthetics practice, dental clinics and hospitals showed a higher level of aesthetic satisfaction than unlicensed facilities. For difference in satisfaction at pronunciation, chewing, pain, a sense of foreign body, and holding power, dental clinics and hospitals showed a higher level than unlicensed facilities, Third, after factor analysis on the perception factors of unlicensed treatment and dental treatment, unlicensed facilities showed the highest level of reliability, and then convenience, word of mouth, and modernity in order. Dental clinics and hospitals also showed the highest level of reliability, however, and then convenience, modernity, and word of mouth in order. Fourth, as a consequence of analyzing the factors to influence the use pattern of prosthetics, regarding residential pattern, there were higher possibilities to use dental clinics and hospitals when the subjects lived together with their children and in Gangnam, and the more were the number of pyeong for the residence, pocket money, medical expense, and property in their name, compared to unlicensed facilities. In conclusion, economic factors appear to be the most important factors in selecting facilities for denture prosthodontics. Therefore, it is important to ensure the denture prosthodontics for the elderly are reimbursable so that they can enjoy a healthier life.

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SON PREFERENCE AND FAMILY BUILDING DURING FERTILITY TRANSITION (IMPLICATIONS ON CHILD SURVIVAL) (출산력 전환기의 남아선호와 출산형태)

  • Kim, Minja -Choe;Kim, Seung-Kwon
    • Korea journal of population studies
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    • v.21 no.1
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    • pp.184-228
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    • 1998
  • This study reviews the relationship between son preference and fertility behavior, and infant and chlid mortality in the context of fertility and mortality decline. In Korea the situation reveals that fertility can decline to a very low level even in the presence of strong son preference, but son preference has certain effects on fertility and childhood mortality. The effect of son preference on fertility increased as the level of fertility declined. Our findings show that son preference causes excess female childhood mortality both directly and indirectly through fertility. Also, in Korea, the analysis reveals that female children suffer excessively high level of mortality and part of the excess mortality is due to parents' behavior on family building related to the effort to secure the birth of a son.

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Platelet count change by vincristine in maintenance phase of acute lymphoblastic leukemia chemotherapy (급성 림프구성 백혈병의 항암 유지요법 중 vincristine과 관련된 혈소판수의 변화)

  • Lee, Sung Moon;Ham, Soon Shik;Jeon, In-sang
    • Clinical and Experimental Pediatrics
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    • v.49 no.2
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    • pp.181-186
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    • 2006
  • Purpose : The hematologic change during the treatment of acute lymphoblastic leukemia(ALL) is critical as a prognostic determinant and a variable to determine the dose of chemotherapeutic agents. It is known that the dose of vincristine used in the maintenance phase of ALL is small enough to increase the count of platelet. To investigate the change of platelet count according to the vincristine administration in maintenance phase of ALL chemotherapy, we performed this study. Methods : Eleven patients eligible under the criteria of Children's Cancer Study Group(CCG)-1882 and who had completed chemotherapy were enrolled in this study. The count of platelets before vincristine administration was compared with those of vincristine administration 1, 2 and 3 weeks after the early and last periods of maintenance phases. The platelet count before vincristine administration was defined as 100 percent and that after vincristine were compared. In addition, we tentatively defined an enhancing effect of vincristine as positive when the relative count was more than 120 percent. Results : Platelet count did not differ according to the early and last periods of maintenance phase. Platelet count at first week after vincristine administration increased more significantly than that before vincristine in early and last periods. There was an enhancing effect in 10(90.9 percent) of 11 patients after 1 week vincristine administration both in the early and last periods of the maintenance phase. Conclusion : Vincristine, used in ALL maintenance phases as a low dose, increased platelet count 1 week after administration. The increased platelet count resumed to the previous level 2-3 weeks later. However, the thrombocytosis observed in the maintenance phase by vincristine was not high enough to induce thrombosis. In addition, vincristine is known to reduce the activity of platelets. Therefore, the risk of thrombosis in the maintenance phase of ALL chemotherapy would be low.

A Study on the Actual Condition of the Adult-smoking in a Region (일 지역 성인의 흡연실태)

  • Chong Young-sook
    • Journal of Korean Public Health Nursing
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    • v.13 no.1
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    • pp.97-113
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    • 1999
  • To investigate the actual condition of the adult-smoking in Chinan County. I used self-reporting questionnaires among 923 residents living in nine districts selected at random among the sites of eleven eup-myons from December 28. 1998 to January 6. 1999. collected data and analyized using SPSS. The smoking rate of adults in Chinan County was $36.9\%$. There was a significant difference in smoking rate according to the age. gender, education and job among general characteristics. The smoking rate in group of above 40s was about $40\%$ and that of the male took $55.5\%$ which was higher than that of female and the smoking rate of the people having high-school education was the highest$(46.2\%)$. With regard to the career. the smoking rate of the farmers ranked first$(46.1\%)$. Therefore anti-smoking business for smokers should be focused on above 40 years old, males. people having high school education and farmers. As the result of the survey of smoking habits of 340 people who smoke currently, the average smoking begining age was 21.8 and $81.5\%$ among them was between 16-25 years old. $4.4\%$ was under 15. during around the elementary school. Most motives to smoke were as followed; curiosity or taste$(33.6\%)$, relief of stress $(31.2\%)$, peer presure$(26.5\%)$ And considering the amount of the cigarette which is smoked per day, the case which is less than a pack of cigarettes was highest as $75.5\%$ and the people who smoke over one pack of cigarettes took $24.5\%$. As for the kind of tobacco which is smoked, how to smoke and the desire for the smoking, most case was toxin was moderate$(47.8\%)$ or mild$(46.9\%)$. shallowly$(49.0\%)$ or deeply$(46.3\%)$ and under stress$(33.4\%)$. after meals$(27.8\%)$, during drink$(15.7\%)$ and so on. The highest point marked among the factors of smoking motives was 'the reduce of negative emotion' $(3.27\pm1.00)$. followed by 'uncomfortable habits' $(2.87\pm1.02)$, 'addiction' $(2.84\pm1.06)$. 'habit' $(2.74\pm1.12)$. 'pleasure' $(2.70\pm1.04)$. 'stimulus' $(2.59\pm.90)$, 'sensation-exercise satisfaction' $(2.42\pm.97)$. Smokers smoke to reduce the negative emotions when angry in most common case. depressed. anxious. uncomfortable. lone. ashamed or embarrased. and intend to solve the certain problem. etc. Other motives are uncomfortable habit. addiction. habit. pleasure and the pursuit of stimulus. The level of nicotine dependence of adults m Chinan County was 10.57 which amount to 'high' wholly. As the resulf of the level of nicotine dependence score. the people who are low in the level of nicotine was $33.5\%$. the people who are high was $48.2\%$. very high was $18.4\%$. The approach for anti-smoking for smokers should be conducted differently according to the level of the nicotine. For the people who are in low level of nicotin dependence the prohibition of the smoking should be guided through the approach to foster strong will. for those who are in 'high' by acquiring proper method for the prohibition of smoking. and for those who are 'very high' the anti-smoking should be induced by providing proper program because of the possibility of the suffer from abstinence syndrome. The difference of the level of nicotine with the general characteristics of the objects had not statistically significant difference. The difference of the level of nicotine dependence accompanied by smoking habit had statistically significant difference according to the amount of smoke, the kind of tobacos. smoke inhale habit. In other words, the group of heavy smokers had higher level of the nicotine dependence than that of the light smokers relatively and the group which smoke strong taboaco has higher level of nicotine than that of which smoke mild or moderate. And the group of smokers who smoke deeply has higher level of nicotine than that who smoke shallowly or nonswallow. Aa a result of the analysis of the correlation between smoking motive factors and the level of nicotine, there was the indication that people who smoke for the decrease of the negative emotion. habit, pleasure. stimulus. sensation-exercise satisfaction had high level of the nicotine dependence. As the result of the anti-smoking will of smokers. $65.0\%$ of them had prohibition of smoking will. $29.3\%$ had no will to quit smoke. The most important reason for anti-smoking was health. $67.9\%$ had experience to try to quit smoke and the biggest reason to fail to quit smoking was the lack of the will power to keep anti-smoking. $52.8\%$ of them were advised to stop smoking from their spouses or children. only $2.8\%$ were by medical. The people who have the opinion to need anti-smoking education were $69.6\%$. Therefore when the business for the hygine of the mouth for adult is set. it should be centered on the people who have intention of prohibition of the smoking and help to quit smoking by way of other affirmative counter-program not smoking under stress.

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