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전형적 호모시스틴뇨증 환자들의 임상적 특성과 유전자분석 (Clinical Features and Genetic Analysis of Homocystinuria Patients in Korea)

  • 이예나;이정호;이동환
    • 대한유전성대사질환학회지
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    • 제15권2호
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    • pp.78-86
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    • 2015
  • 목적: 호모시스틴뇨증은 cystathionine ${\beta}$-synthase의 결핍으로 유발되는 질환이다. 본원에서 치료받고 있는 총 6명 환자들의 임상양상과 유전자 분석을 시행하였다. 방법: 1992년 1월부터 2015년 3월까지 본원에서 전형적 호모시스틴뇨증으로 진단되어 치료 중인 총 6명의 환자들을 대상으로 후향적으로 임상적, 생화학적, 유전자적 분석을 하였다. 결과: 총 6명의 환자가 본 연구에 포함되었으며 이 중 3명은 영아기에 발견되었고, 나머지 3명은 7세 이후에 진단되었다. 영아기에 진단되어 치료를 받은 환자들은 정상 인지기능을 보였고, 7세 이후에 진단된 환자들은 다양한 정도의 지적 장애가 있었다. 골감소증이 6명 중 2명의 환자에서 발견되었다. 혈전 색전증이나 경련, 수정체 탈구 같은 주요한 합병증은 7세 이후에 진단된 군에만 있었다. 유전자 검사에서 모두 cystathionine ${\beta}$-synthase 유전자의 돌연변이를 확인하였다. 본 연구에 포함된 6명은 현재 메티오닌 제한 식이를 하면서 엽산과 베타인, 비타민 B6, 메틸코발라민을 복용 중이다. 결론: 6명의 전형적 호모시스틴뇨증 환자들을 길게는 23년 동안 추적 관찰하였다. 신생아 대사 이상 검사에서 발견된 환자들은 합병증 없이 성장하고 있으나, 7세 이후에 진단된 환자들은 100% 수정체 탈구가 있었고 각종 합병증이 동반되었다. 따라서 전형적 호모시스틴뇨증의 예후에는 무엇보다 조기 진단이 중요하며 이는 현재 국내에서 시행되는 신생아 대사 이상 검사의 중요성을 설명하는 것이라 하겠다.

부산지역 일부 대학생의 식습관 및 영양소 섭취상태에 관한 연구 (The Comparison in Daily Intake of Nutrients and Dietary Habits of College Students in Busan)

  • 고명수
    • 대한지역사회영양학회지
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    • 제12권3호
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    • pp.259-271
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    • 2007
  • The purpose of this study was to investigate the dietary habits and daily intake of nutrients in college students. This survey was conducted using a self-administered questionaire. The average heights and weights were 173.5 cm and 72.3 kg of male students and 161.8 cm and 57.2 kg of female students. The average of BMI was $24.2kg/m^2$ of male and $21.9kg/m^2$ of female, and the value of male students was higher than the value of female students. The response to the daily meals was 54.6% for '$2{\sim}3$ times/week'. The regularity of mealtime was 41.7% for irregular and the frequency eating after nine was 45.7% for '5-6 times/week', respectively. The repast was 72.2% for 'overeating and little eating' and was a significant difference of male and female students (p<0.05). The eating rate was higher '$10{\sim}20min$'. As for breakfast food eaten, skipping breakfast was 23.6% for 'no/week' and female students were higher than male students (p<0.05). The frequency of snacks was 36.0% for 'nothing' of males students and 34.8% for '3-4 times/week' of female students (p<0.05). The type of snack was a significant difference of males and females students (p<0.01), and was the highest 75.0% for carbonated drinks of males and 37.5% for snacks of females. The eating due to stress solution was a significant difference of male and female students (p<0.01), and was the highest 23.0% for 'frequency' of males and 44.7% for 'sometime' of females. As for food intake of male and female students, the meat intake was 66.7% for 'everything of male and female students. The fish intake was 68.1 % for '1-2times/week'. The milk, milk products, eggs and beans were each 40.3%, 58.3%, 56.9%, 47.2% for '1-2 times/week' (p<0.05). The fat intake was 55.6% for '$1{\sim}2$ times/week'. The average consumption of energy was 58% of male and 67% of female of estimated energy requirement (EER). Their mean ratio of carbohydrate: protein: fat was 57 : 15 : 28 of all subjects. The mean intakes of vitamin C and folic acid were 70% and 51% of males and 62% and 52% of females of recommended intake (RI). The mean intakes of Ca, P, Fe and Na were 71%, 140%, 146% of males and 72%, 122%, 76% of female of RI and 273% of males and 233% of females of adequate intake (AI). Therefore, nutritional education is necessary for college students to establish physicall and mentall optimal health conditions though nutritional intervention.

서울 거주 20대 여성의 아침식사 섭취 빈도에 따른 식습관 및 영양소 섭취상태 조사 (Dietary Habits and Nutritional Status of Young Women according to Breakfast Frequency in Seoul)

  • 김다미;김율리;김경희
    • 대한지역사회영양학회지
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    • 제23권2호
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    • pp.102-115
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    • 2018
  • Objectives: Although breakfast is important to nutrition balance, prevention of overeating, and weight control, people in their 20s (males: 55.1%, females: 49.9%) were reported to have the highest rate of skipping breakfast in 2016 Korea Health Statistics. This study aims to examine dietary habits and nutrient intake depending on breakfast frequency among young women in Seoul. Methods: The subjects were 655 young women in Seoul from August to October 2016, and the survey was performed by using a questionnaire that included general characteristics, dietary habits, and eating behavior. Body composition was determined by bioelectric impedance analysis. Nutritional status was examined by the 24-hour recall method. Results: The participants were classified by breakfast intake frequency; '${\geq}5times/week$ (n=160)', '1-4 times/week (n=327)', and 'breakfast skipping (n=168)'. The 'breakfast skipping' group had lower frequency and regularity of meals. In addition, the 'breakfast skipping' group had a higher frequency of eating-out and late-night meals. There was no difference in total calories between the 'breakfast skipping' group and other groups, but the 'breakfast skipping' group had significantly low carbohydrate and fiber intakes. The participants showed lower intakes of calories, fiber, vitamin A, vitamin C, niacin, folic acid, calcium, potassium, and zinc in comparison with recommended intakes. Especially, the 'breakfast skipping' group had significantly lower fiber, vitamin A, vitamin C, calcium, potassium levels compared to the '${\geq}5times/week$' group. For Mean Adequacy Ratio (MAR), the 'breakfast skipping' group recorded a ratio of 0.60, which was lower than those of other groups. Index of Nutritional Quality (INQ) including fiber, vitamin C, calcium and phosphorus were significantly lower in the breakfast skipper group, compared to the breakfast eater group. Conclusions: The 'breakfast skipping' group showed low regularity of meals and a high frequency of eating-out and late-night meals. The breakfast regular eater group showed high intake of micronutrients and quality of meals was high in general. Skipping breakfast could lower nutrient intake and quality of meals, which requires attention.

대학생의 패스트푸드 이용, 영양지식, 식행동, 영양소 섭취 실태에 관한 연구 (A Study on Fast Food Consumption, Nutritional Knowledge, Food Behavior and Dietary Intake of University Students)

  • 김경원;신은미;문은혜
    • 대한영양사협회학술지
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    • 제10권1호
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    • pp.13-24
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    • 2004
  • This study was designed to examine fast food consumption, nutritional knowledge, food behavior and dietary intake of university students and to investigate if there were differences in these variables by fast food consumption. The questionnaire was administered to university students in Daejeon. Data(n=269) was analyzed using $x^2$-test and analysis of variance. Subjects were mostly female(62%) and freshmen or sophomores(86%). Based on the frequency of fast food consumption, subjects were categorized into non-users(27.9%), users(<2 times/week, 42%) and frequent users($\geq$2 times/week, 30.1%). Those who used fast foods(n=194) consumed the foods 7.5 times per month, on the average. Subjects scored 15.6 out of 20 on a nutritional knowledge scale, showing the moderate level of knowledge. When examined by fast food use, the nutritional knowledge score was 15.5 for non-users, 16.1 for users, and 15.0 for frequent-users(p<0.05). Only two items, regarding 'fat type(animal, plant) and health' and 'importance of having breakfast', were significantly different by fast food consumption, with user group and non-users scoring higher than frequent-users(p<0.05). Food behaviors, measured by 20 items, were not desirable, with mean scores of 51.5(possible score: 20-100). Subjects showed problems in eating meals regularly, eating a variety of foods, eating breakfast, and consumption of some food groups(vegetables, fruits, and proteins). Fast food non-users showed more desirable food behaviors than users or frequent-users, such as having processed foods (p<0.001) and eating-out less frequently(p<0.01). Dietary intake data showed that some nutrient intakes, including energy, calcium, iron, zinc and folic acid were less than 75% of the RDA. Index of nutritional quality(INQ) was adequate except for calcium and zinc. Compared to non-users or user group, frequent-users of fast foods consumed higher amounts of lipids(p<0.05), and had lower INQ for calcium(p<0.01). This study described the status of fast food consumption, nutritional knowledge, food behavior of university students, and provided some baseline data for planning nutrition education for university students.

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혈액투석 환자에서 당뇨병 유무에 따른 영양상태와 영양섭취량 비교 (A Prospective Study on Nutritional Status and Nutrient Intake of Hemodialysis Patients Based on Coexistence of Diabetes)

  • 오예성;안재영;김미향;최선정;정종철
    • 대한영양사협회학술지
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    • 제23권1호
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    • pp.1-13
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    • 2017
  • It is well known that malnutrition is a predictor of mortality in hemodialysis patients. The number of diabetic nephropathy patients is increasing rapidly. This study aimed to investigate nutritional status and nutrient intake according to the presence of diabetes among hemodialysis patients. The nutritional intake and general characteristics of outpatients at Ajou University Hospital (24 with diabetes and 30 without diabetes) were investigated between July and September 2015. Patients' general data were collected, and nutritional status by Patient-Generated Subjective Global Assessment (PG-SGA) was evaluated. Nutrient intakes were assessed according to 3-day food records. There was no significant difference regarding body weight between the two groups. However, the non-diabetic group showed a better nutritional status by Patient-Generated Subjective Global Assessment (PG-SGA) ($5.2{\pm}4.4$ vs. $8.0{\pm}4.3$ score, non-diabetics vs. diabetics, P<0.05). There was no difference in daily calorie intake ($1,473.9{\pm}370.5$ vs. $1,503.8{\pm}397.5kcal$) and protein intake ($60.3{\pm}19.7$ vs. $65.6{\pm}20.5g$) in those with diabetes. Intakes of vegetables protein, sodium, potassium, vitamin C, folic acid and fiber were significantly higher in the diabetic group compared to those of the non-diabetic group. There was no difference in daily nutrient intake between the hemodialysis weekday and weekend groups. The non-diabetic group had higher calorie and sodium intakes per meal in the hemodialysis weekday group, but the difference was not significant. Based on these results, intervention should be performed to improve nutritional status in consideration of diabetes and dietary patterns.

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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여대생의 골밀도와 식이 및 비식이 요인들 간의 상관성 (Dietary and Non-dietary Factors Related to Bone Mineral Density in Female College Students)

  • 임지혜;배현숙;이승민;안홍석
    • 대한지역사회영양학회지
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    • 제13권3호
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    • pp.418-425
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    • 2008
  • The purpose of this study was to investigate correlations between bone mineral density (BMD) and dietary and non-dietary factors in female college students. The BMD of the subjects (n = 38) was measured using DEXA (Dual Energy X-ray Absorptiometry) at lumbar spine and three femoral sites including femoral neck, ward's triangle, and femoral trochanter. Three-day 24-hour dietary recall data were collected from each subject to assess consumption levels of nutrients and food groups. The mean (${\pm}SD$) values of age, age of menarche, height, weight, body mass index (BMI), waist-to-hip ratio (WHR), fat mass, and % body fat of the subjects were 21.34 (${\pm}1.73$) years, 13.1 (${\pm}1.2$) years, 161.3 (${\pm}5.0$) cm, 53.7 (${\pm}7.2$) kg, 20.6 (${\pm}2.6$) $kg/m^2$, 0.80 (${\pm}0.04$), 15.4 (${\pm}4.4$) kg, and 28.2 (${\pm}4.7$), respectively. The BMD values of lumbar spine, femoral neck, ward's triangle, and femoral trochanter as T-value were $1.150{\pm}0.13\;g/cm^2$, $0.932{\pm}0.11\;g/cm^2$, $0.850{\pm}0.13\;g/cm^2$, and $0.721{\pm}0.10\;g/cm^2$, respectively. The daily mean energy intake of the subjects was 1660.6 kcal. The intake levels of carbohydrate, calcium, iron, vitamin C, and folic acid were lower than the KDRIs, while those of fat, phosphorus, sodium, vitamin A, and vitamin $B_6$ were higher than the KDRIs. Significantly negative correlation were detected between consumption of fat and oils and the BMD of all sites measured (p < 0.05). Potato and starch intake was negatively correlated to the BMD of femoral neck and word's triangle (p < 0.05). The intake of cereals was found to be negatively correlated to the BMD of ward's triangle (p v 0.05). There was also negative correlation of intake of soybeans and products with the BMD of lumbar spine (p < 0.05). Weight and muscle mass were positively correlated to the BMD of both lumbar spine and femurs (p < 0.01). Significantly positive correlations between BMI, and fat mass and the BMD of lumbar spine were observed (p < 0.001). Additionally fat mass was positively correlated to the BMD of femoral neck. WHR and % body fat were positively correlated to the BMD of lumbar spine (p < 0.05). Negative correlation was found between a serum calcium level and the BMD of femoral neck (p < 0.05). In summary non-dietary factors generally showed significant correlations with the BMD of lumbar spine, while several dietary factors showed significant correlations with the BMD of femurs.

체중조절 영양교육 프로그램이 비만 아동의 식습관, 체중, 지방세포분비 호르몬의 농도에 미치는 영향 (Effect of Nutrition Education for Weight Control on the Dietary Behavior, Anthropometry, Body Composition, and the Serum Levels of Adipocytokines in the Elementary Obese Children)

  • 이현숙;최진선;김화영
    • 한국식생활문화학회지
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    • 제20권3호
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    • pp.323-330
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    • 2005
  • 평균 연령 10.8세인 비만 아동 17명을 대상으로 12주간 영양교육을 중심으로 한 체중조절 프로그램을 실시한 결과 비만도와 BMI에서는 유의적인 변화를 보이지 않았으나 허리둘레 및 엉덩이 둘레가 유의적으로 감소하였고, HDL-콜레스테롤이 유의적으로 증가하였다. 지방 조직 분비 호르몬-resistin, adiponectin, leptin의 수준은 체중조절 프로그램 실시전과 후에 유의적인 차이를 보이지 않았다. Resistin과 leptin의 변화량은 BMI 변화량과 양의 관계를, adiponect의 변화량은 음의 관계를 나타내 체위와의 상관성을 보여주었으나 본 연구만으로 이들 호르몬들과 체위변화와의 상관성을 규명하기에는 부족했다. 또한 체중조절 프로그램 후 열량 외에 무기질과 비타민 등 대부분의 영양소 섭취가 감소하여 체중조절 프로그램을 진행할 때 열량섭취는 줄이면서 미량 영양소의 섭취는 유지할 수 있게 올바른 식품을 선택할 수 있도록 하는 교육이 강화되어야 할 것이다. 본 연구는 비교적 단기간의 체중조절프로그램의 효과를 살펴본 것으로서, 본 연구결과를 토대로 앞으로 영양교육의 내용을 수정하고, 체조성 변화에 대한 연구를 강화하며 좀 더 장기적인 체중조절 프로그램을 수행한다면 아동 비만 치료에 더 좋은 효과를 낼 수 있을 것이라 사료된다. 또한 비만과 체지방분비호르몬의 상관성에 대한 후속연구도 필요한 것으로 본다.

고학력 기혼여성의 취업여부별 영양소 섭취로 본 식사의 질 평가 (Evaluation of Diet Quality according to Nutrient Intake between Highly Educated, Married, Unemployed and Employed Women)

  • 최지현;정영진
    • Journal of Nutrition and Health
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    • 제39권2호
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    • pp.160-170
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    • 2006
  • This study was conducted to provide foundation data for making health care policy for married women by assessing the dietary intake between highly educated married, employed and unemployed women. It is a direct interview, cross-sectional study with 24-hour recall method for one day. In selecting the subjects for this study, married, unemployed women were selected from a certain area (Daedeok Science Town) in Daejeon where there are high rates of highly educated women, and the married, employed women were selected from the teaching profession in order to avoid confounding due to including a variety of jobs. According to the Korean Standard Classification of Occupations, teaching is the representational occupation of highly educated, married women. Then, to prevent confounding due to age, we selected the subjects out of each age group at the same rate through random sampling. Women who had not graduated college, worked only part-time, or had no current spouse were excluded. As a result, 486 highly-educated, married, unemployed (250) and employed (236) women were used for analyzing data. The unemployed women consumed a higher amount of fat, cholesterol, sodium, vitamin C and folic acid while the employed women consumed a higher amount of iron, vitamin $B_l$ and vitamin $B_2$. P/M/S ratio being 1/1.18/1.05 and 1/1.05/0.87, for the unemployed women and the employed women, respectively, unemployed respondents had a higher saturated fat intake than those of employed. It is in excess of the standard ratio (1/1/1) of the Korean RDA. At the same time, in unemployed respondents the percent of energy intake from fat (24.8%, 23.2%) and animal fat (12.4%, 11.4%) were higher than those of employed respondents. The mean daily nutrient intake of calcium, zinc, and iron for both groups of respondents were lower than the Korean RDA. Both groups had phosphorus as the highest nutrient and calcium as the lowest nutrient of INQ (Index of Nutritional Quality) while nutrients with the INQ being less than 1 were calcium and iron. To sum up, the following conclusions can be made: Nutrition education and guidance for reduction of the intake of fat, especially animal fat, are necessary for unemployed women. In addition, highly educated, married, unemployed and employed women should increase the consumption of foods rich in iron and calcium to prevent anemia and osteoporosis, while decreasing the intake of phosphorus to balance proportions of calcium and phosphorus.

인천지역 장기요양시설과 주간보호시설 여성치매노인의 인지기능 및 영양섭취 비교 (Comparison of the Cognitive Function and Nutrient Intakes of Elderly Women with Dementia in a Long-Term Care Facility and a Day-Time Care Facility in Incheon)

  • 배미애;이영휘;김화순;유정순;장경자
    • 한국식생활문화학회지
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    • 제34권4호
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    • pp.389-400
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    • 2019
  • In this study we compared the cognitive function (Mini-Mental State Examination for Dementia Screening: MMSE-DS) and nutrient intake of elderly women with dementia in a long-term care facility (EW-LCF) and a day-time care facility (EW-DCF). This survey was conducted from July 2015 to May 2017 on 73 elderly women with dementia (47 women in LCF and 26 women in DCF) in the city of Incheon. The data obtained from interviews with the subjects and caregivers were analyzed using the SPSS 20.0. The total score of the MMSE-DS and intakes of most nutrients in the EW-LCF were significantly lower compared to the EW-DCF (p<0.05). The nutrient adequacy ratios (NAR) of protein, vitamin A, C, $B_6$, $B_{12}$, thiamin, riboflavin, niacin, folic acid, calcium and phosphorus in the EW-LCF were significantly lower compared to the EW-DCF (p<0.05). However, the indexes of nutritional quality (INQ) of vitamin C, $B_6$, thiamine, niacin, calcium, magnesium, and iron in the EW-LCF were significantly higher compared to the EW-DCF (p<0.05). As a result, the subjects showed an unbalanced and insufficient nutrition intake status regardless of the type of care facility. Most nutrient intakes of the EW-LCF with lower cognitive function were very significantly lower compared to the EW-DCF (p<0.001). Therefore, it is necessary to assess the cognitive function and nutritional status regularly at care facilities for the elderly women suffering with dementia and to provide specialized individual nutritional management.