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약체X염색체 증후군과 자폐증과의 연관 (Fragile X Syndrome and it's Association with Autism)

  • 양문봉
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • 제3권1호
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    • pp.147-157
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    • 1992
  • 약체X염색체 증후군은 최근에 발견된 X염색체와 관련된 정신박약의 일종으로서 현재 뇌의 발달과의 연관성에 대해 집중적으로 활발히 연구되고 있는 증후군이다. 인간의 세포내에는 보통 46 개의 염색체가 있으며 그 중에서 성을 구별짓는 염색체는 X와 Y이다. 남성은 X, Y를 소유하고 있으며 여성은 두개의 X를 소유하고 있다. 그러나 많은 연구 결과에 의하면 약체 X염색체중 환자의 경우에 X염색체의 가장자리 부분이 수축되어서 쉽게 갈라지거나 손상입기쉬워서 그 중상을 약체염색체증이라 명명하였다. 특히 남성에게 두드러지게 나타나는데 그 이유는 성을 구별짓는 염색체가 X, Y 이므로 하나의 X염색체가 손상되었을 경우에 이를 보충할 수 없지만 여성 의 경우에는 또다른 X염색체가 보충할 수 있는 가능성이 높으므로 남성이 여성보다 더 많은 분포를 나타낸다. 역사적으로 고찰할 때 어느 한나라에서 집중적으로 연구된 것이 아니고 세계 각국(특히 유럽지역과 호주)의 공동의 노력으로 이와같은 최신 정보와 연구 결과를 탄생시킬 수 있었다. 임상적 신체적 특징으로는 비대 고환과 비대 귓바퀴가 두드러지게 관찰되고 있으며 언어적 특성으로는 표현 언어 능력부족, 인지 능력지체, 제한된 단어 사용, 그리고 의미없는 반향어를 사용한다. 또한 수많은 부적응 행동을 보이기 때문에 자폐증과의 관련 여부에 대한 연구가 활발히 이루어지고 있을 뿐만 아니라 밀접한 연관성을 뒷받침하는 연구 결과들이 계속적으로 속출하고 있다. 치료 방법으로는 실험실 연구 결과에 의해 엽산의 투여가 효과적임이 주목되고 있으며 또한 생화학적 연구가 활발해 짐에 따라 더 많은 치료 방안이 소개될 것이 기대되어 진다. 약체염색체증은 정신박약 중에서 다운씨병 다음으로 많이 분포 되어 있기 때문에 모든 정신 장애아에게 약체X 염색체 검사를 실시하는 것을 이 저널은 크게 추천하고 있다.

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강원 지역 일부 여대생 중 골밀도 정상군과 위험군의 식품섭취빈도법을 이용한 식품과 영양소 섭취 상태 비교 (Evaluation of Food and Nutrient Intake by Food Frequency Questionnaire between Normal and Risk Groups according to the Bone Mineral Density of Female College Students Residing in Gangwon Area)

  • 정혜련;윤선주;김미현
    • 대한지역사회영양학회지
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    • 제15권4호
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    • pp.429-444
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    • 2010
  • The purpose of this study was to examine the relationship between bone density and dietary intake for college women in their twenties. This study was performed on 160 female college students residing in Gangwon-do. It was conducted using ultrasound measurement of calcaneus bone density, anthropometric checkup and food-frequency questionnaires (FFQ) comprising 94 kinds of commonly consumed foods. Subjects were divided into two groups according to the T-score of bone density: a normal group (n = 113 persons, T-score ${\geq}1$) and a risk group (n = 47, T-score < 1.0). The average age of the subjects was 20.17 years and there was no significant difference between the two groups. Body weight and body fat percentage of the normal group were significantly higher than those of the risk group. The mean daily energy intake of the normal group was significantly higher than that of the risk group. Also, protein, fat, vitamin A, niacin, vitamin B6, folate, calcium, phosphorus, sodium, potassium, iron and zinc intake for the normal group were significantly higher than for the risk group. For the intake of the commonly consumed foods (or dishes) listed in FFQ, the mean daily intake amount of loaf bread, rice cake, potatoes, spicy beef soup, cucumber, seasoned spinach perilla leaves, crown daisy, stir-fried mushroom, sea mustard, beef rib, ham, chicken, mackerel, common squid, drink type curd yogurt, oriental melon and chocolate in the normal group was significantly higher than in the risk group. While, the mean daily intake of ramyun (instant noodle) and carbonated beverage by the normal group was significantly lower than that of the risk group. In conclusion, 20 something female college students showed a higher rate (26.9%) of the bone mineral density risk group (osteopenia or osteoporosis). For the risk group, the levels of nutrient and food intake were lower than in the normal group. Therefore, the bone density risk group needs to increase their nutrient intake and diet quality by increasing the intake of various foods. In addition, they should decrease the intake of foods, which are negative for skeletal health such as instant noodles and carbonated beverages.

국내 베트남 결혼이민여성과 한국인 배우자의 식이섭취 및 식습관에 대한 상관관계 (Dietary Intakes and Eating Behaviors of Vietnamese Female Immigrants to Korea through Marriage and Korean Spouses and Correlations of Their Diets)

  • 김선혜;김화영;유지은;정혜원;황지윤
    • 대한지역사회영양학회지
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    • 제14권1호
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    • pp.22-30
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    • 2009
  • This study aimed to examine nutritional status and similarities of diets between Vietnamese female immigrants and Korean spouses and dietary changes of Vietnamese females after immigration. Subjects were 608 couples visiting 13 medical centers for the Cohort of Intermarried Women in Korea from November 2006 to November 2007. Anthropometric and biochemical measurements were obtained and dietary intakes were assessed using one-day 24-hour recall. Sixty-eight percent of wives answered there have been changes in their diets and consumptions of meats, fish, dairy products, vegetables, and fruits increased after immigration. Energy intakes of wives and spouses were 1491.7 kcal and 1788.8 kcal, respectively, showing most couples (80.1%) consumed less than the Korean estimated energy requirements. More than half of the couples were below the Korean estimated average requirements of zinc, vitamin $B_2$, and folate. The correlation coefficients between couples ranged 0.15-0.38 for unadjusted, 0.22-0.35 for per 1000 kcal, and 0.21-0.40 for energy-adjusted, respectively. The proportions of couples in the same quartiles of each nutrient intake and in the same answers of each question of Mini Dietary Assessment were about 30% across nutrients and around 50% across questions. The length of residence is related to similarities of nutrient intakes between couples: similarities decreased after 3 years of residence in Korea. In conclusion, nutritional intakes of inter-married couples were inadequate although wives reported that their dietary intakes increased after immigration. Inadequate nutrient intakes of wives were partly explained by similar diets between couples because these wives without enough adjustment to Korean culture were more likely to follow what their spouses ate. Findings from this study may be helpful to improve the nutritional status of inter-married couples and make policies and programs for them. A follow-up study should identify factors affecting inadequate nutritional status of intermarried couples and similarities of their diets.

전북 일부 지역 과체중 및 비만 중년 여성 대상 보건소 영양교육 효과 -개인별 하루필요에너지 및 식품군 단위수 교육을 중심으로- (Effects of Nutrition Education at a Community Health Center on Overweight and Obese Middle-aged Women in Jeonbuk Area-Focused on Personalized Daily Energy Requirement and Food Exchange Units)

  • 김세연;김숙배
    • 대한지역사회영양학회지
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    • 제22권4호
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    • pp.307-322
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    • 2017
  • Objectives: This study examined the effects of nutrition education focused on personalized daily energy requirement and food units using Food Exchange System on anthropometric, biochemical characteristics, nutrition knowledge, dietary attitude and nutrient intakes for overweight and obese in a public health center. Methods: The subjects were 60 overweight/obese women based on BMI (educated 30 vs. non-educated 30, 50~64 years). Educated group was provided individual and/or group lessons (40 min/lesson/week, 5 week), 'Introduction: obese & health', '6 nutrients and 6 food groups', 'My obesity & daily needed energy', 'Meal planning for personalized daily energy and food units using Food Exchange Systems', and 'Smart food choices'. After education, we examined the differences in anthropometric/biochemical characteristics, nutrition knowledge, dietary attitude and nutrient intakes between educated group and non-educated group. Results: After nutrition education, in the educated group, there were improvements on anthropometric/biochemical characteristics, nutrition knowledge, dietary attitude and nutrient intakes in the educated group compared to the non-educated group. We observed a decrease in the mean weight, total cholesterol (TC) and the incidence of overweight/obesity and hypercholesterolemia and an increase in the mean lean body mass. The scores of nutrition knowledge, 'Function of carbohydrate, protein, vitamin, mineral' and 'Food Sources of fat, vitamin, mineral' were increased. The scores of dietary attitudes, 'Taking a joyful meal, a leisurely meal, a balanced meal, a meal with sufficient vegetables, a meal with diversity, a meal with spicy foods, a meal with overeating' were increased. The intakes of energy, carbohydrate, fat, protein, vitamin A, thiamin, Zn and cholesterol were decreased. The scores of INQ, protein, vitamin A, vitamin C, thiamin, riboflavin, vitamin B6, folate, Ca, P, Fe, Zn were increased. Conclusions: The nutrition education focused on personalized daily energy requirement and food exchange unit using Food Exchange System for overweight and obese may improve food behavior, dietary intakes and symptoms of overweight and obese, even in a community health center.

전라도 농촌장수지역 거주 70대 노인의 건강상태에 영향을 미치는 환경적 요인에 대한 탐색 연구 (Investigation on Influencing Environmental Factors on Health Status of Korean Septuagenarians Dwelling in Longevity Region in Jeonla Province)

  • 곽충실;연미영;이미숙;오세인;박상철
    • 대한지역사회영양학회지
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    • 제19권2호
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    • pp.142-162
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    • 2014
  • Objectives: To evaluate the critical environmental factors on healthy-aging of Korean people, we investigated the significant factors influencing health status of septuagenarians living in rural area of Jeonla province, known to be one of the representative longevity regions in Korea. Methods: We divided subjects into healthy group (36M/25F) or poor-health group (26M/73F) based on self-reported health status, body mass index, a number of prescription, and blood test data. General characteristics, physical measurements, lifestyle, dietary behavior and nutrient intake, physical health and mental health data were statistically compared between the two groups. Results: Average age was not different between healthy group and poor-health group in men and women, respectively. In men, significantly favorable factors to health were observed to be higher education, regular exercise, higher grip strength and walking function, body mass index (${\geq}18.5kg/m^2$), moderate frequency of drinking and eating-out, non-smoking, normal red blood cell (RBC) count, higher serum dehydroepiandrosterone-sulfate (DHEAS) level, good digestive function and appetite, normal hearing function, regular meals, adequate vegetable and fruit intake, diverse food intake, adequate energy and nutrients (protein, vitamin $B_1$, $B_6$, C and E, folate, niacin, P, Zn and K) intake, higher mini-nutrient status assessment (MNA) score and low level of depression. On the other hand, in women, those were literacy, living arrangement, moderate frequency of drinking, healthy teeth, higher grip strength and walking function, bone mineral density, normal RBC and white blood cell (WBC) count, higher DHEAS concentration, higher MNA score, normal cognition and memory function, having snack and adequate fruit intake. Conclusions: These results could be useful to plan effective strategies to increase health-life expectancy of Korean old people living in rural areas.

한국 여성 유방암 경험자의 식사섭취실태 (Dietary Intake Status among Korean Female Breast Cancer Survivors)

  • 박명숙;황은경;문형곤;노동영;이정은
    • 대한지역사회영양학회지
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    • 제19권2호
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    • pp.163-175
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    • 2014
  • Objectives: We aimed to evaluate dietary intake among female breast cancer survivors in a cross-sectional study. Methods: A total of 127 women who had breast cancer surgery at least 6 months before baseline were included. Dietary intake of female breast cancer survivors was assessed through self-reported 3 day-dietary records. To compare dietary intake between breast cancer survivors and general female population without cancer, we selected the 1:4 age matched women from the 2011 Korean National Health and Nutrition Examination Survey (KNHANES). In the KNHANES, participants were asked about their dietary intake using the 24-hour dietary recalls. We also examined whether dietary intake varied by age group, cancer stage, or time since surgery among breast cancer survivors. We used the generalized linear model to compare their dietary intakes. Results: Intakes of total energy, beta-carotene, folate, vitamin C, plant iron and fruits were lower among breast cancer survivors with longer time since surgery compared to those with shorter time (p<0.05). Breast cancer patients with higher stage at diagnosis tended to consume less legumes (p=0.01) than those with lower stage. When we compared dietary intake between breast cancer survivors and the general female population without cancer, breast cancer survivors were more likely to consume most of macro- and micro-nutrients in larger quantity (p<0.05) and adhere to healthier diet characterized by higher intakes of legumes, seed and nuts, vegetables and fishes and shells than the general female population who never had been diagnosed with cancer (p<0.05). Conclusions: Our study results suggested that the intakes of nutrients and foods varied by time since surgery and cancer stage among breast cancer survivors and dietary intakes among breast cancer survivors differed from that in the general population. Further prospective studies are warranted to explore the association between dietary intakes of specific food items and survival among Korean breast cancer survivors.

여대생의 체지방률에 따른 식이섭취와 혈중지질농도, 철분지표 및 항산화능 (Dietary Intake, Serum Lipids, Iron Index and Antioxidant Status by Percent Body Fat of Young Females)

  • 배현숙
    • 대한지역사회영양학회지
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    • 제13권3호
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    • pp.323-333
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    • 2008
  • The aim of this study was to measure and compare nutrient intake, anthropometric measurements and serum indices by percent body fat as one of the index of obesity degree in female college students. Additionally we attempted to investigate percentile distribution of fat free mass index (FFMI) and fat mass index (FMI) for developing reference values for these two parameters. The subjects were 91 female college students who were classified to 4 groups according to the percentile of percent body fat (Group1: 25 th < percentile of percent body fat, Group 2 : 25 th ${\le}$ percentile of percent body fat < 50 th, Group 3 : 50 th ${\le}$ percentile of percent body fat < 75 th, Group 4 : percentile of percent body fat ${\ge}$ 75 th). The mean percent body fat and body mass index were 28.2%, $20.5 kg/m^2$ respectively. The mean energy intake was 1707 kcal(81% of KDRIs) and vitamin C, folate, Ca and Zn intake were 73.9%, 54.7%, 79.6%, 97.5% of KDRIs respectively. Most nutrient intake (energy, carbohydrate, cholesterol, fatty acid, Ca, Fe) of G4 was lower than that of G1, G2 and G3. Serum HDL-cholesterol concentration was significantly lower in G4 than G1, G2, G3 and it tended to increase as percent body fat decreased. LDL/HDL, A1 of G4 were significantly the highest among the 4 groups and increased as percent body fat increased. The mean fat free mass index and fat mass index were $14.5 kg/m^2$, $6.0 kg/m^2$ respectively. The criteria of sarcopenic obesity which has been defined as under 25 th percentile of FFMI and below 75 th percentile of FMI were shown $12.8 kg/m^2$, $8.2 kg/m^2$ respectively in this study. In conclusion, we should continue to more systematically research on the studies of new obesity measurement which includes FFMI and FMI as one of the variables. And the public education for weight control that emphasizes both the understanding of body composition and the importance of nutrition balance is also required.

만성 폐쇄성 폐질환 환자에서 병기에 따른 영양상태 평가 (Nutritional Status of Chronic Obstructive Pulmonary Disease Patients according to the Severity of Disease)

  • 박영미;윤호일;손정민;조여원
    • Journal of Nutrition and Health
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    • 제41권4호
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    • pp.307-316
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    • 2008
  • The purpose of the study was to investigate nutritional status of chronic obstructive pulmonary disease (COPD) patients and to find out the differences according to the stages of disease. From March to October, 2006, 41 stable male patients of mild to severe COPD patients were recruited from Seoul National University hospital. The patients' of body weight and fat free mass were assessed by bioelectrical impedance analysis. The nutritional status of the patients was also assessed by 3-day recall, index of nutritional quality (INQ), dietary diversity score (DDS), dietary variety score (DVS), food group index pattern and dietary quality index (DQI). The total of 41 patients were classified into three groups, stage I, stage II and stage III groups according to the classification of Global Initiative for Chronic Obstructive Lung Disease (GOLD) standard. The mean age of the patients in each stage were 67.2-66.9 years showing no significant difference. The ratio of $FEV_1$/FVC were $57.5{\pm}7.3$, $46.9{\pm}7.6$ and $38.2{\pm}6.8%$, respectively showing significant differences according to the stages of disease. The fat free mass of the stage II ($48.2{\pm}4.7kg$) and III ($47.3{\pm}4.5kg$) was significantly lower than that of stage I ($53.1{\pm}6.9kg$) patients. There were significant correlation of fat free mass with $FEV_{1}$, and BMI (body mass index) with $FEV_{1}$/FVC ratio (p < 0.05). COPD patients showed the diet-related clinical symptoms of anorexia, dyspnea, dyspepsia, and chewing difficulty. Daily intakes of calorie, K, vitamin $B_2$ and folate of the patients were very low ($83.8{\pm}20.7%$, $58.9{\pm}14.4%$, $70.7{\pm}19.6%$ and $74.4{\pm}10.2%$, respectively) however, they did not significantly different according to the stages of disease. Daily intake of calcium was significantly lower in the stage III patients (p < 0.05). The mean scores of dietary variety score was significantly lower in the stage III patients (p < 0.001). Dietary quality index of the patients were not different among the stages of disease and the scores indicated poor quality of diet. As a summary, we found that body fat free mass, regularity of exercise, frequency of having snacks and dietary variety score were significantly associated with the severity of chronic obstructive pulmonary disease.

Identification of genes involved in inbreeding depression of reproduction in Langshan chickens

  • Xue, Qian;Li, Guohui;Cao, Yuxia;Yin, Jianmei;Zhu, Yunfen;Zhang, Huiyong;Zhou, Chenghao;Shen, Haiyu;Dou, Xinhong;Su, Yijun;Wang, Kehua;Zou, Jianmin;Han, Wei
    • Animal Bioscience
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    • 제34권6호
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    • pp.975-984
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    • 2021
  • Objective: Inbreeding depression of reproduction is a major concern in the conservation of native chicken genetic resources. Here, based on the successful development of strongly inbred (Sinb) and weakly inbred (Winb) Langshan chickens, we aimed to evaluate inbreeding effects on reproductive traits and identify candidate genes involved in inbreeding depression of reproduction in Langshan chickens. Methods: A two-sample t-test was performed to estimate the differences in phenotypic values of reproductive traits between Sinb and Winb chicken groups. Three healthy chickens with reproductive trait values around the group mean values were selected from each of the groups. Differences in ovarian and hypothalamus transcriptomes between the two groups of chickens were analyzed by RNA sequencing (RNA-Seq). Results: The Sinb chicken group showed an obvious inbreeding depression in reproduction, especially for traits of age at the first egg and egg number at 300 days (p<0.01). Furthermore, 68 and 618 differentially expressed genes (DEGs) were obtained in the hypothalamus and ovary between the two chicken groups, respectively. In the hypothalamus, DEGs were mainly enriched in the pathways related to vitamin metabolism, signal transduction and development of the reproductive system, such as the riboflavin metabolism, Wnt signaling pathway, extracellular matrix-receptor interaction and focal adhesion pathways, including stimulated by retinoic acid 6, serpin family F member 1, secreted frizzled related protein 2, Wnt family member 6, and frizzled class receptor 4 genes. In the ovary, DEGs were significantly enriched in pathways associated with basic metabolism, including amino acid metabolism, oxidative phosphorylation, and glycosaminoglycan degradation. A series of key DEGs involved in folate biosynthesis (gamma-glutamyl hydrolase, guanosine triphosphate cyclohydrolase 1), oocyte meiosis and ovarian function (cytoplasmic polyadenylation element binding protein 1, structural maintenance of chromosomes 1B, and speedy/RINGO cell cycle regulator family member A), spermatogenesis and male fertility (prostaglandin D2 synthase 21 kDa), Mov10 RISC complex RNA helicase like 1, and deuterosome assembly protein 1) were identified, and these may play important roles in inbreeding depression in reproduction. Conclusion: The results improve our understanding of the regulatory mechanisms underlying inbreeding depression in chicken reproduction and provide a theoretical basis for the conservation of species resources.

연령에 따른 성인여성의 골밀도와 식습관 및 영양섭취상태 연구 (A Study on Bone Mineral Density, dietary habits and Nutritional Status of Adult Women in the three age groups)

  • 최미경;김미현
    • 한국식생활문화학회지
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    • 제22권6호
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    • pp.833-840
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    • 2007
  • The purpose of this study was to obtain baseline data of nutritional management for women's bone health according to age. This study was conducted through questionnaire, bone mineral density(BMD) measurement by DEXA and dietary survey by 24hr recalls to 134 adult women. Subjects were divided into three groups: young women group who aged 20-29(n=48), middle aged women group who aged over 30 and were pre-menopause(n=36), postmenopausal women group(n=48). The body fat percent of postmenopausal women group was the highest among the three groups. BMD of lumbar spine(L1-L2) were $0.93\;g/cm^2$ for young women, $0.97\;g/cm^2$ for middle aged women, and $0.88\;g/cm^2$ for postmenopausal women, respectively(p<0.05). BMD of femoral neck(p<0.05), trochanter(p<0.05), and ward's (p<0.001) were significantly decreased as age increasement. Drinking alcohol and skipping meals were significantly higher in young women groups than in the other groups, however frequency of doing regular exercise was significantly lower in young women groups. Young women group consumed the significantly higher amount of cereals(p<0.05), sugar and sweeteners(p<0.001), meats(p<0.01), eggs(p<0.01), milks(p<0.05) and oils(p<0.001) than middle aged and postmenopausal women. Also, energy(p<0.001), animal protein, (p<0.01), plant oil(p<0.001), animal fat(p<0.001), retinol(p<0.001), vitamin E(p<0.01), and cholesterol(p<0.001) intakes of young women were highest among the three groups. However, young women group consumed the significantly lower amount of dietary fiber(p<0.05), vitamin C(p<0.01), folate(p<0.05) and fruits(p<0.01) than the other groups. To summarized the our results, young women who were in still undergoing bone formation activity to develope peak bone mass, had more dietary habit and lifestyle problems than middle aged and postmenopausal women. The results of this study revealed that nutritional management and education for bone health should be emphasized in young women not only aged women.