• Title/Summary/Keyword: 정상가족

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3-methyl-crotonyl-CoA carboxylase deficiency 환자의 임상경과와 분자유전학적 특성

  • Jeong, Chang-U;Kim, Gu-Hwan;Lee, Beom-Hui;Lee, Jin;Choe, Jin-Ho;Yu, Han-Uk
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.11 no.1
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    • pp.106-109
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    • 2011
  • MCG는 3-methylcrotonyl-CoA의 결핍으로 발생하는 선천성 leucine 대사 장애이다. 무증상에서 간질지속증 등의 다양한 임상양상을 보이며 주로 신생아대사이상선별검사에서 의심되어, 소변 유기산 검사를 통해 3- hydroxyisovaleric acid의 증가의 소견이 보인다. 치료는 leucine 제한 식이와 L-carnitine의 복용 등의 식이요법이 있다. 서울아산병원에서 MCG로 확진된 9가계 11명의 환자를 대상으로 임상상과 분자 유전학적 특성을 조사하였다. 9명은 신생아 대사이상검사로 발견되었으며, 나머지 2명은 가족검사를 통해서 진단되었다. 총 2-10세($2.6{\pm}1.96$년)까지의 관찰 기간 동안 모든 환자는 정상 발달을 보였으며, 신경학적 이상이나 대사불균형의 이상소견은 보이지 않았다. 총 18개의 대립유전자 중 17개에서 돌연변이를 발견하였으며, p.D280Y 돌연변이가 66.7%의 대립유전자에서 확인되어, 한국인 MCG에서 흔한 돌연변이임을 알 수 있었다. 또한 p.S342K, p.P459S, p.552S, p.Q496H, p.T556A 등 대부분의 돌연변이가 이전에 보고된 바가 없던 돌연변이로 한국인 MCG환자의 유전학적 특성이 다른 민족과 다름을 시사한다.

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The Study of Serum lipid Profile and Food Behaviors in Healthy Offsprings of Korean NIDDM Patients (인슐린 비의존형 당뇨병의 가족력을 가진 정상 자녀의 혈청 지질 및 식습관에 관한 연구)

  • Kim, U-Gyeong;Jang, Yeong-Ae;Park, Hye-Ja
    • Journal of the Korean Dietetic Association
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    • v.5 no.2
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    • pp.145-152
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    • 1999
  • This study was to investigate the risk factors for the development of diabetes mellitus on healthy offsprings of Korea non-insulin dependent diabetes mellitus(NIDDM) patients. Forty four offsprings who have at least 1 parent with NIDDM and age, sex and body mass index(BMI) matched forty four healthy control subjects were collected for this study. BMI, skinfold thickness, waist/hip circumference ratio(WHR), fasting blood glucose, serum insulin, serum lipid profile, nutrient intakes and food behaviors were measured. There were no significant difference in BMI, WHR, fasting blood glucose, insulin, total cholesterol, triglyceride and daily nutrients intake between offsprings and controls. But skinfold thickness, LDL-cholesterol level and sweety food eating frequency were significantly higher in male offsprings than in male controls. And HDL-cholesterol was significantly lower in male offsprings than in male controls. Although there were no significant difference, offsprings had a overeating habit and ate more confectionery and greasy food than controls.

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Relationship between Dyadic Adjustment and Personality Dimensions in Married Women (기혼 여성의 부부 적응도와 성격 차원간의 연관성)

  • Lee, Hyo-Geun;Joe, Sook-Haeng;Kim, Jung-Woong
    • Korean Journal of Psychosomatic Medicine
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    • v.11 no.2
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    • pp.182-195
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    • 2003
  • Background: Marriage is one of the major life events and the primary source of individual happiness and meaning of life. It is not possible to predict who will marry whom and which marriage will be successful. Marital adjustment has significant influences on an individual and relationship functioning and is associated with mental health. Good marital quality may imply good general relationship. There are several factors that correlate with or predict good marital quality. Especially individual personality factors may be a major factor in achieving and maintaining marital stability, satisfaction and happiness. The aim of the present study was to investigate the possible relationship between dyadic adjustment and personality dimensions in urban married women. Methods: Dyadic Adjustment Scale, Eysenck's Personality Questionnaire, Beck Depression Inventory and State-Trait Anxiety Inventory were administered to 215 married women. Data analysis was based on 170 women who provided reliable informations. The descriptive statistics of demographic data and 4 scales were obtained. Then the possible relationships between each data were tested by calculating Pearson's product moment correlations. To test the effects of depression and anxiety on dyadic adjustment, stepwise multiple regression analysis was done. Results: Age and length of marriage were negatively correlated with affectional expression and dyadic cohesion. Educational level was positively correlated with total dyadic adjustment score and dyadic satisfaction. Family income was positively correlated with total dyadic adjustment score, dyadic consensus, dyadic satisfaction and dyadic cohesion. Different family type showed different total dyadic adjustment score, dyadic satisfaction and dyadic cohesion. Psychoticism was negatively correlated with total dyadic adjustment score, dyadic consensus, dyadic satisfaction, affectional expression and dyadic cohesion. Neuroticism was negatively correlated with total dyadic adjustment score, dyadic consensus, dyadic satisfaction and affectional expression. Extraversion and lie were not correlated with any factors. Beck Depression Inventory and State-Trait Anxiety Inventory scores were negatively correlated with total dyadic adjustment score, dyadic consensus, dyadic satisfaction, affectional expression and dyadic cohesion. The result of multiple regression analysis indicated that psychoticism was correlated with dyadic adjustment. Conclusion: These results showed that the demographic factors such as age, length of marriage, educational level, family income and family type were significantly correlated with dyadic adjustment. Psychoticism and neuroticism measured by Eysenck Personality Inventory were significantly correlated with dyadic adjustment. But the correlations with extraversion and lie were not significant. Especially correlation between neuroticism and dyadic adjustment seemed to be mediated by emotional state such as depression and anxiety. These findings suggest that personality factors may be involved in marital relationship and that clinician must consider personality aspect in dealing with marital problems. Future study about differences between control group and psychiatric patient group will be needed.

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Comparison of Eating Habits and Dietary Intake Patterns between People with and without Allergy (알레르기 질환 유무에 따른 식생활 습관과 식품섭취패턴의 비교 연구)

  • Yang, Seung-Hye;Kim, Eun-Jin;Kim, Young-Nam;Seong, Ki-Seung;Kim, Sung-Soo;Han, Chan-Kyu;Lee, Bog-Hieu
    • Journal of Nutrition and Health
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    • v.42 no.6
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    • pp.523-535
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    • 2009
  • The aim of this study was to examine and compare the eating habits and dietary intake patterns of people with or without allergy by the survey during August-September, 2008. The 131 subjects aged 10'-50' (AG = allergy group, n = 62; NG = non-allergy group, n = 69) participated in this study. The questionnaire included general characteristics, dietary habits, and food frequency. Income level tended to be higher in AG than in NG, and AG had more pets and flower pots than NG (p < 0.01). In AG, most affected area of allergy was the skin and the subjects in AG experienced the mixed symptoms and more than 2 types of allergy. Family history of allergy was highly related with allergy of the subjects (AG: 66.1%, NG: 33.9%). Both groups did not exercise regularly, but frequency of alcohol drinking in AG was significantly higher than in NG (p < 0.01). AG skipped meals and had snacking more often than NG (p < 0.05). Most favorite snacks in AG were instant foods, fast foods, cookies, and ice cream (p < 0.05). Therefore, AG tended to consume more allergy-related foods than NG. Highly-consumed allergy-related foods were egg, pork, walnut, onion, tuna, shellfish, and kiwi (p < 0.05). Therefore, nutrition education and guidance is needed to establish good eating habits, food intakes, and life style in people having allergy.

Clinical Characteristics of Type 2 Diabetes in Children and Adolescents (소아 및 청소년 2형 당뇨병의 임상적 특징)

  • Lee, Seong Yong;Shin, Choong Ho;Yang, Sei Won
    • Clinical and Experimental Pediatrics
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    • v.45 no.6
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    • pp.754-763
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    • 2002
  • Purpose : The incidence of type 2 diabetes in children and adolescents has been reported to increase recently. The aim of this study is to investigate the clinical features of type 2 diabetes developing during childhood and adolescent period. Methods : The medical records of 33 patients with type 2 diabetes were reviewed. We analysed clinical manifestations, demographic data, and modes and responses of treatment. Results : Age at diagnosis was $13.4{\pm}1.8$ years. Seventy percent of patients revealed pubertal signs at diagnosis. Half of the patients had BMI more than $25kg/m^2$. Seventy-three percent of patients had family history of type 2 diabetes. Acanthosis nigricans were found in 18% of patients. Nineteen(57.6%) patients were diagnosed incidentally by random urine or blood glucose test without any typical diabetic symptom or sign. The modes of therapy to control hyperglycemia were insulin alone(75.8%), oral hypoglycemic agents alone(9.1%), insulin and oral hypoglycemia agents(9.1%), and only diet with exercise(6%). At the time of investigation, 45.5% of patients were not using insulin. The typical diabetic symptoms at diagnosis were more prevalent in patients who required insulin for more than two years than patients who did not(P<0.05). Conclusion : The development of type 2 diabetes in children and adolescents is possibly related to puberty, obesity, family history, and defects in insulin secretion rather than insulin resistance. Many children and adolescents with type 2 diabetes required insulin initially and some of them could discontinue. More than half of the patients were diagnosed as diabetes without any typical symptom or sign, which might be one of the predictive factors of the prolonged insulin requirement.

The Risk Factors for the Development of Hypertension in a Rural Area - An 1-Year Prospective Cohort Study - (농촌 지역 주민들의 고혈압 발생 위험요인 - 1년간 전향성 추적 조사 -)

  • Oh, Hee-Sook;Kam, Sin;Yeh, Min-Hae;Kang, Yun-Sik;Kim, Keon-Yeop;Lee, Young-Sook;Park, Ki-Soo;Son, Jae-Hee;Lee, Sang-Won;Ahn, Moon-Young;Chun, Byung-Yeol
    • Journal of Preventive Medicine and Public Health
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    • v.33 no.2
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    • pp.199-207
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    • 2000
  • Objectives : This study was peformed to identify the risk factors related to the development of hypertension in a rural area. Method : Total of 3,573 subjects in Chung-Song County were interviewed and examined in 1996. The study cohort comprised 2,580 hypertension-free subjects aged above 20. One-year follow up was completed for 1,781 subjects(69.0%) in 1997. General characteristics(age, gender, education level, economic status, marital status), the family history of hypertension, diet, alcohol, smoking, coffee, stress, past history of oral contraceptive and menopausal status in female, height, weight, waist and hip circumference, baseline blood pressure, and serum total cholesterol were considered as risk factors. Results : Multivariate analysis using logistic regression model indicated that age(RH=1.50, 95% CI; 1.15-1.96), the family history of hypertension(RR=2.11, 95% CI; 1.04-4.26), waist-hip ratio(WHR) (RR=2.09, 95%, CI; 1.15-3.79), and baseline systolic blood pressure(130-139/<120mmHg)(RR=3.34, 95% CI; 1.47-7.60) were significant risk factors associated with the development of hypertension above the borderline level in male. In female, age(RR=1.06, 95% CI; 1.03-1.09), change in menopausal status$(no{\rightarrow}yes/no{\rightarrow}no)$ (RR=3.32, 95% CI; 1.01-10.87), baseline systolic blood pressure(120-129/<120mmHg: RR=2.00, 95% CI; 1.02-3.90)(130-139/<120mmHg: RR=2.64, 95% CI; 1.34-5.20) and baseline diastolic blood pressure(85-89/<80mmHg)(RR=4.09, 95% CI; 1.86-8.96) were identified as risk factors. Conclusions : Age and high normal blood pressure were significant risk factors for the development of hypertension above the borderline level. In addition, the family history of hypertension and WHR in men, and the change of menopausal status in women might be significant risk factors in Korea.

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Expression Pattern of Kir6.2 in Skeletal Muscle Cells of Patients with Familial Hypokalemic Periodic Paralysis (가족성 저칼륨성 주기성마비 환자의 골격근 세포내 Kir6.2의 발현 및 분포 양상)

  • Kim, Sung-Jo;Yoon, Dong-Ho;Kim, June-Bum
    • Journal of Life Science
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    • v.20 no.3
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    • pp.457-461
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    • 2010
  • Familial hypokalemic periodic paralysis (HOKPP) is an autosomal dominant disorder characterized by reversible flaccid paralysis and intermittent hypokalemia. Although it has been reported that decreased activity in the $K_{ATP}$ channels of the skeletal muscle cell membrane plays a role in the pathogenesis of HOKPP, a clear mechanism has not yet been established. This study aimed to investigate the molecular biological mechanism underlying the decreased activity of $K_{ATP}$ channels in the skeletal muscles of familial HOKPP patients by studying the levels of the $K_{ATP}$ channel subunit Kir6.2. We found that when cells obtained from healthy individuals (normal cells) and HOKPP patients (patient cells) were treated with 4 mM potassium buffer, there was no quantitative change in the KCNJ11 mRNA levels and no difference in the Kir6.2 protein expression in the cytosol and cell membrane. On the other hand, when 1 mM potassium buffer was used, normal cells showed decreased expression of KCNJ11 mRNA as well as decreased expression of Kir6.2 protein in the cell membrane. However, patient cells treated with the same buffer showed no quantitative change in the levels of KCNJ11 mRNA or in the levels of Kir6.2 protein in the cytosol and cell membrane. Thus, in HOKPP patients, the Kir6.2 protein cannot be transported from the cell membrane to the cytosol, leading to closure of the $K_{ATP}$ channels, induction of depolarization, and subsequently, to the paralytic symptoms observed in the patient. Our findings thus provide new insights into the pathogenesis of HOKPP.

The Comparison of Psycho-Social Behavior Characteristics between Girls with Precocious Puberty and Normal Girls (성조숙증 여아와 정상발달 여아의 심리사회적 행동특성 비교)

  • Moon, Woo-Jin;Kwon, Ho-Jang;Hwang, Man-Ki
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.19 no.2
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    • pp.357-369
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    • 2018
  • This study was conducted to provide data pertaining to precocious puberty by comparing the psycho-social behavior of girls with precocious puberty to those with normal development. This study was conducted from 1 June 2016 to 25 February 2017. The subjects were 104 female patients of A group with precocious puberty visiting H Oriental medicine clinic and S clinic in Seoul, and 104 girls in control group A and 104 girls in control group B attending elementary school in gun. The psycho-social behavioral characteristics of girls with precocious puberty and those with normal development were compared among 312 girls matched for gender and age using a t-test, ${\chi}^2test$, and ANOVA. In addition, the factors influencing precocious puberty were analyzed through multinomial logistic regression. The results revealed that the primary influence factors were frequency of meat intake (p<0.01) and eating-out (p<0.05). These were followed by watching TV (p<0.001), hours of using smart phone (p<0.01) and number of private institutes attended (p<0.05). Additionally, emotional and physical indexes were lower in the precocious puberty group than the control group, indicating that they have more pathology.Finally, girls in the precocious puberty group have lower family and friendship indexes than those in the control group, which means they have more pathology. Overall, the results indicate that extensive research on the causes and frequency of precocious puberty is necessary.

Prevalence and Related Factors of Knee Osteoarthritis in Rural Women (농촌여성의 무릎 골관절염 유병률 및 관련요인)

  • Seo, Joong-Hwan;Kang, Pock-Soo;Lee, Kyeong-Soo;Yun, Sung-Ho;Hwang, Tae-Yoon;Park, Jong-Seo
    • Journal of agricultural medicine and community health
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    • v.30 no.2
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    • pp.167-182
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    • 2005
  • Objectives: This study was performed to investigate the prevalence of knee osteoarthritis according to the criteria of diagnosing knee osteoarthritis in rural women and the factors related with this disease. Methods: The data obtained from 200 women older than 40 years of age residing in 5 Ri's in Goryeong-gun. Gyeongsanbuk-do by random cluster sampling from September to October 2002. Knee osteoarthritis was determined positive according to the Kellgren and Lawrence classification and knee pain. Results: Among these subjects, 71.0% showed more than grade 2 in radiologic finding and the rate of knee pain according to the survey was 67.0%. The rate of subjects meeting the criteria of knee osteoarthritis was 54.0%. According to univariate analysis, the prevalence of knee osteoarthritis increased with age and those farming people and people working in household industry was significantly high at 58.9% compared with others. The prevalence of knee osteoarthritis showed a significant relationship with the family history and past history of knee injury and knee surgery(p<0.01), and diabetes mellitus(p<0.05). The score of ADL was significantly different in the subjects with knee osteoarthritis compared with normal group(p<0.05). When the presence of knee osteoarthritis and the period of the life style of seating down on the floor were compared, a significant difference was present between the osteoarthritis group and normal group. As for metabolic factors, the blood sugar level, bone density, and body mass index(BMI) were significantly different in the osteoarthritis group compared with normal group. When multiple logistic regression analysis was performed with the presence of knee osteoarthritis as the dependent variable, the prevalence of knee osteoarthritis was significantly affected by older age, subjects farming or working in household industry, the history of knee injury, the history of surgery, higher blood sugar level, and higher BMI. Conclusions: These subjects need an intervention through self-care programs such as exercise for preventing osteoarthritis, weight control programs, other exercise programs strengthening knee joints, and guidelines when working in vinyl houses.

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An analysis of examination items for secondary Home Economics teaching certification - Focusing on evaluation content elements of Home Economics - (중등 "가정" 교사 임용시험 문항 분석 - 평가 영역별 평가 내용 요소를 기준으로 -)

  • Jung, Sang-Hee;Park, Mi-Jeong;Chae, Jung-Hyun
    • Journal of Korean Home Economics Education Association
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    • v.24 no.2
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    • pp.135-154
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    • 2012
  • The purpose of this study was to investigate the trends of HE exam questions through analyzing the examination items for secondary Home Economics(HE) teaching certification from 2002 to 2011. The results of the study were as follows: First, regarding the analysis on pedagogy of HE course, it accounted for 30.9% of the total questions, and recently, it increased to 35%. Regarding the ratio of questions by each evaluation element, 'practice of teaching and learning methods for HE course'(33.2%) had the highest ratio, and 'essence of the education of HE'(3.2%) had the lowest ratio. Second, regarding the analysis on eating habits, it amounted to 17.5% of the total questions, and recently reached 15%. With regard to the ratio of each evaluation element, 'cooking theory and practice'(26.1%) had the highest ratio, and 'culture of eating habits'(3.7%) had the lowest ratio. Third, regarding the analysis on clothing habits, it accounted 15% of the total questions, and recently reached 12.5%. With regard to the ratio of each evaluation element, 'clothing management'(25.1%) and 'production of clothing and living necessaries'(25.1%) had the highest ratio, and 'selection of clothing and self-expression'(3.0%) had the lowest ratio. Fourth, regarding the analysis on housing life, it accounted for 11% of the total questions, and recently reaches 12.5%. With regard to each evaluation element, 'the understanding of housing life culture'(22.5%) had the highest ratio, and 'the understanding of housing interior design'(10.7%) had the lowest ratio. Fifth, regarding the analysis on daily life as a consumer, it accounted for 12.4%, and recently reaches 12.5%. With regard to the ratio of each evaluation element 'management of domestic resources'(34%) had the highest ratio, and 'planning of entire life and domestic welfare'(0%) had the zero ratio. Sixth, regarding the analysis on family life, it accounted for 13.3% of the total questions, and recently reaches 12.5%. With regard to the ratio of each evaluation element, 'the understanding of family and the changes in family'(23.8%) had the highest ratio, and 'marriage and the development of family'(2%) had the lowest ratio.

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