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A Case of Late-onset Episodic Myopathic Form with Intermittent Rhabdomyolysis of Very-long-chain acyl-coenzyme A Dehydrogenase (VLCAD) Deficiency Diagnosed by Multigene Panel Sequencing (유전자패널 시퀀싱으로 진단된 성인형 very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) 결핍증 증례)

  • Sohn, Young Bae;Ahn, Sunhyun;Jang, Ja-Hyun;Lee, Sae-Mi
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.19 no.1
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    • pp.20-25
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    • 2019
  • Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (OMIM#201475) is an autosomal recessively inherited metabolic disorder of mitochondrial long-chain fatty acid oxidation. The clinical features of VLCAD deficiency is classified by three clinical forms according to the severity. Here, we report a case of later-onset episodic myopathic form of VLCAD deficiency whose diagnosis was confirmed by plasma acylcarnitine analysis and" multigene panel multigene panel sequencing. A 34-year old female patient visited genetics clinic for genetic evaluation for history of recurrent myopathy with intermittent rhabdomyolysis. She suffered first episode of rhabdomyolysis with acute renal failure requiring hemodialysis at twelve years old. After then, she suffered several times of recurrent rhabdomyolysis provoked by prolonged exercise or fasting. Physical and neurologic exam was normal. Serum AST/ALT and creatinine kinase (CK) levels were mildly elevated. However, according to her previous medical records, her AST/ALT, CK were highly elevated when she had rhabdomyolysis. In suspicion of fatty acid oxidation disorder, multigene panel sequencing and plasma acylcarnitine analysis were performed in non-fasting, asymptomatic condition for the differential diagnosis. Plasma acylcarnitine analysis revealed elevated levels of C14:1 ($1.453{\mu}mol/L$; reference, 0.044-0.285), and C14:2 ($0.323{\mu}mol/L$; 0.032-0.301) and upper normal level of C14 ($0.841{\mu}mol/L$; 0.065 -0.920). Two heterozygous mutation in ACADVL were detected by multigene panel sequencing and confirmed by Sanger sequencing: c.[1202G>A(;) 1349G>A] (p.[(Ser 401Asn)(;)(Arg450His)]). Diagnosis of VLCAD deficiency was confirmed and frequent meal with low-fat diet was educated for preventing acute metabolic derangement. Fatty acid oxidation disorders have diagnostic challenges due to their intermittent clinical and laboratorial presentations, especially in milder late-onset forms. We suggest that multigene panel sequencing could be a useful diagnostic tool for the genetically and clinically heterogeneous fatty acid oxidation disorders.

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Agrifood consumer competency index and food consumption behaviors based on the 2019 Consumption Behaviors Survey for Food (농식품 소비자역량지수와 식품소비행태에 관한 연구: 2019년 식품소비행태조사자료를 이용하여)

  • Kim, Eun-kyung;Kwon, Yong-seok;Lee, Da Eun;Jang, Hee Jin;Park, Young Hee
    • Journal of Nutrition and Health
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    • v.54 no.2
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    • pp.199-210
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    • 2021
  • Purpose: This study investigated the food consumption behaviors in Korean adults, according to the agrifood consumer competency index (ACCI). Methods: Data obtained from the 2019 Consumption Behaviors Survey for Food were analyzed. A total of 6,176 adults (2,783 males, 3,393 females) aged ≥ 19 years, were included in the study. Based on the score of agrifood consumer competency index, the subjects were classified into three groups. The dietary habits, eating-out and food-delivery/take-out behaviors, opinion of food labeling, and concerns for domestic products were compared among the 3 groups. Results: The ACCI scores of the male and female subjects were 63.6 and 64.8, respectively. Subjects of both genders in the highest tertile of the ACCI were more likely to have a higher education level and higher health concerns, as compared to subjects in the lowest tertile (p < 0.05). Male subjects having highest tertile of the ACCI reported significantly more exercise and alcohol consumption, as compared to subjects in the lowest tertile (p < 0.05). A higher score of the ACCI also portrayed a higher satisfaction in own diet and greater checking of the food label. Moreover, subjects with a higher score of the ACCI showed greater satisfaction and reliability in the food label, as well as increased concerns for domestic agrifoods, local foods, and eco-friendly foods. Subjects in the lowest tertile of the ACCI acquired their dietary information from acquaintances, whereas subjects in the highest tertile of the ACCI learnt the information from food labels themselves. Conclusion: These results are indicative of the food consumption and behaviors of Korean adults according to their ACCI scores, and provide basic data that will be useful for implementing an effective food policy.

The Design Improvement Plan of Seoul Forest Visitor Centers for Little Children (서울시 유아숲체험장의 공간 개선 방안)

  • Kim, Minjung;Jeong, Wookju
    • Journal of the Korean Institute of Landscape Architecture
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    • v.49 no.6
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    • pp.49-63
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    • 2021
  • The Forest Visitor Centers for Little Children who means preschoolers is an educational facility that achieves holistic growth by experiencing forests, and it should not be completed by installing specific facilities in the forest environment, but should be a space where preschoolers can play freely in the forest environment themselves. This study comprehensively evaluated the current status of Seoul Forest Visitor Centers for Little Children and suggested space improvement measures to enhance the effectiveness of forest experience. Through the theoretical review, seven spatial elements that enhance the effect of forest experience and six areas composing outdoor play areas were derived to prepare an analysis table for current status evaluation, and field survey studies were conducted on 24 centers in Seoul. Through expert interviews, the physical status was examined from the perspective of childhood education and the experiences of the users were summarized. As a result of the study, the Seoul Forest Visitor Center for Little Children is classified into six types according to the location characteristics and spatial structure, and has the characteristics of each type. The effectiveness of forest experience can be enhanced by identifying and revealing the environmental strengths of individual centers. In the case of outdoor experience learning zones, the proportion of exercise play areas was very large. By evenly organizing the forest experience space for each area, it will be possible to provide more diverse experiences to preschoolers. However, the status of uniform facility-oriented cannot be viewed as a fragmentary factor that lowers the effect of forest experience. The key to increasing the effect of forest experience by inducing creative activities is the spatial composition that considers the surrounding natural environment. Facilities should be a medium to help preschoolers' interest move into the forest. This study prepared data to understand the average physical status of the Seoul Forest Visitor Center for Little Children and suggested space improvement measures to increase the effectiveness of forest experience. This can be used as basic data for research to improve the quality level of the Seoul Forest Visitor Center for Little Children about 10 years after the project was implemented.

Clinical and Radiological Outcomes of 'Blocking Kirschner Wire Technique' in Displaced Intra-Articular Calcaneal Fractures via the Extended Sinus Tarsi Approach (전위된 관절 내 종골 골절에서 확장된 족근동 접근법을 통한 Kirschner Wire 강선 지지대 고정술의 임상 및 영상학적 결과)

  • Lee, Jeong-Kil;Kang, Chan;Kim, Sang-Bum;Lee, Gi-Soo;Hwang, Jung-Mo;An, Byung-Kuk
    • Journal of the Korean Orthopaedic Association
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    • v.56 no.3
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    • pp.224-233
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    • 2021
  • Purpose: The purpose of this study was to retrospectively evaluate the effect of 'Blocking Kirschner Wire (K-Wire) Technique', which has been developed to reduce protrusion of the lateral wall, in maintaining the level of reduction through clinical and radiological outcomes. Materials and Methods: Twenty-two patients with displaced intra-articular calcaneal fractures who used the blocking K-wire to maintain reduction (group A) and 44 patients that did not use blocking K-wire and were paired in 1:2 ratio with those Group A patients (group B), between January 2015 and December 2017 were enrolled in the study. All surgical procedures were performed via the extended sinus tarsi approach, and internal fixation using cannulated screws, Steinmann pins and K-wires was performed. American Orthopaedic Foot and Ankle Society (AOFAS) Ankle-Hindfoot scale and postoperative recovery of exercise ability were compared for postoperative clinical outcomes. The radiological results were compared the Böhler angle, Gissane angle, calcaneal height and width, step off of posterior calcaneal joint, and the degree of protrusion of the lateral wall. Moreover, postoperative complications in both groups were compared. Results: There were no significant differences in the clinical outcomes of the two groups (p=0.924, p=0.961). The amount of Böhler angle, Gissane angle, calcaneal height and width, and step off of posterior calcaneal joint from the radiological results was not significantly different between the two groups (p=0.170, p=0.441, p=0.230, p=0.266, and p=0.400). However, the degree of protrusion of the lateral wall was 1.78 mm and 4.95 mm in group A and group B, respectively, and the difference between the two groups was significant (p=0.017). Although sural nerve entrapment and painful exostosis were more frequent in group B, they were occurred in a non-significant manner (p=0.293, p=0.655). Conclusion: Most of the clinical and radiological results as well as the complications were not significantly different between the two groups. However, the degree of protrusion of the calcaneus lateral wall in group A was promising. The 'Blocking K-Wires Technique' established by the authors may be an effective surgical option for maintaining the reduction of the lateral wall protrusion in displaced intraarticular calcaneal fractures.

Study on nutrition, dietary and health status of middle-aged Korean men according to sedentary hours: based on the 2019 Korea National Health and Nutrition Examination Survey (중장년 한국 남성의 좌식 시간에 따른 영양, 식이 및 건강행태 연구: 국민건강영양조사 제8기 1차년도(2019년) 자료를 이용하여)

  • Jeong, Dajeong;Lee, Jeehyun;Yoon, Eunju
    • Journal of Nutrition and Health
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    • v.55 no.3
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    • pp.359-375
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    • 2022
  • Purpose: Adult Korean men belonging to the main economically active population are known to have long sedentary hours. This study was undertaken to determine the difference and relevance of sedentary hours on the nutrition, diet, and health status of adult men, and to suggest how to prevent health risk factors. Methods: Subjects (n = 1,068) were classified into 4 groups based on their sedentary hours, ranging from the first quartile (Q1) having the least hours spent sitting, to the fourth quartile (Q4) spending the longest hours. Results: Subjects belonging to Q4 had the lowest average age, the largest waist circumference, and the highest level of education. Among those engaged in economic activities, the ratio of white-collar workers was significantly higher in Q4. Accordingly, the rate of not doing high-intensity or moderate-intensity physical activity while working was also the highest in Q4. A significant difference was obtained in the drinking frequency between groups, but this was found to be associated with the average working hours rather than sedentary hours. The proportion of not doing aerobic exercise was higher with longer sitting hours. The highest diagnosis of diabetes (8.8%) was obtained in the Q4 group. Among the factors related to cardiovascular disease, only low density lipoprotein-cholesterol showed a significant difference, with Q4 being significantly higher than Q1. Considering energy and nutrient intake, vitamin B1 and calcium intake were the lowest in the group with the longest sitting hours, as well as the least consumption of vitamin C than the recommended estimated average requirement. Conclusion: The results of this study suggest that the health and nutritional status of Korean adult men are affected by sedentary hours. This should be recognized as a health risk factor and guidelines need to be developed for sedentary lifestyle management.

Development and Assessment of a Non-face-to-face Obesity-Management Program During the Pandemic (팬데믹 시기 비대면 비만관리 프로그램의 개발 및 평가)

  • Park, Eun Jin;Hwang, Tae-Yoon;Lee, Jung Jeung;Kim, Keonyeop
    • Journal of agricultural medicine and community health
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    • v.47 no.3
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    • pp.166-180
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    • 2022
  • Objective: This study evaluated the effects of a non-face-to-face obesity management program, implemented during the pandemic. Methods: The non-face-to-face obesity management program used the Intervention mapping protocol (IMP). The program was put into effect over the course of eight weeks, from September 14 to November 13, 2020 in 48 overweight and obese adults, who applied to participate through the Daegu Citizen Health Support Center. Results: IMP was first a needs assessment was conducted; second, goal setting for behavior change was established; third, evidence-based selection of arbitration method and performance strategy was performed; fourth, program design and validation; fifth, the program was run; and sixth, the results were evaluated. The average weight after participation in the program was reduced by 1.2kg, average WC decreased by 3cm, and average BMI decreased by 0.8kg/m2 (p<0.05). The results of the health behavior survey showed a positive improvement in lifestyle factors, including average daily intake calories, fruit intake, and time spent in walking exercise before and after participation in the program. A statistically significant difference was seen (p<0.05). The satisfaction level for program process evaluation was high, at 4.57±0.63 point. Conclusion: The non-face-to-face obesity management program was useful for obesity management for adults in communities, as it enables individual counseling by experts and active participation through self-body measurement and recording without restriction by time and place. However, the program had some restrictions on participation that may relate to the age of the subject, such as skill and comfort in using a mobile app.

Bone Density and Related Factors of Vegetarian and Non-vegetarian University Students in Seoul Area (서울지역 채식.비채식 대학생의 골밀도에 미치는 영향요인에 관한 연구)

  • Chung, Nam-Yong;Choi, Soon-Nam
    • Journal of the Korean Society of Food Culture
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    • v.21 no.1
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    • pp.86-98
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    • 2006
  • This study was conducted to investigate factors affecting bone density of food and nutrition vegetarian and non-vegetarian university students in Seoul area. Data for food habits, dietary and health-related behaviors were obtained by self administered questionnaires. BQI(bone quality index) of the subjects was measured by an Quantitative Ultrasound (QUS). The results are summarized as follows: The average height, weight, BMI and osteopenia percentage of the vegetarian and non-vegetarian male and female student were 172.61cm, 62.42kg, 20.98 and 24.2%; 175.38cm, 72.52kg, 23.71 and 16.7%; 160.47cm, 55.76kg, 21.66 and 55.9%; 161.77cm, 56.34kg, 21.53 and 37.6%, respectively. The BQI of the subjects were 101.73 and 107.43 in male student group, and 84.15, 89.64 in female student group, respectively. The BQI, Z-score value of bone density was significantly different in female group. Weight and BMI were positively related with BQI in male and female group. BQI was positively affected by nutrition supplement and negatively affected by seafood in vegetarian male student group. In vegetarian female student group, amount of meal was positively related with BQI and meal regularity was negatively related BQI. The result of this study revealed that the desirable food habits, dietary behaviors and health-related lifestyles may have a beneficial effect on bone density. They should have practically and systematically organized nutritional education on optimum body weight, good eating habits, weight bearing exercise and intakes of good quality nutrient for higher bone density level.

A Cross-Sectional Study on Fatigue and Self-Reported Physical Symptoms of Vinylhouse Farmers (비닐하우스 농작업자의 피로도와 주관적 신체증상에 관한 연구)

  • Lim, Gyung-Soon;Kim, Chung-Nam
    • Journal of agricultural medicine and community health
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    • v.28 no.2
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    • pp.15-29
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    • 2003
  • Objectives: This study was done to find out fatigue and self-reported physical symptoms of Vinylhouse farmers. The results of this study could be used as a basic data to develop health promotion program for Vinylhouse farmers who are suffering from fatigue and physical symptoms. Methods: The 166 respondents, who were working in Vinylhouse and were living in a remoted area where the primary health post located, were participated in this study. Thirty: 30 items of self-reported fatigue scale was used to evaluate the farmers fatigue level which made by Japanese industrial and hygenic association(1988). Twenty four: 24 items of index used by researcher for self-reported physical symptoms was from Lee In Bae's(1999) modified Index which was originated from Cornell Medical Index(1949). Another questionnaires used in this study were developed by researcher through related documents. Results: The results of this study were as follows; Fatigue scores were high in accordance with women(t=-2.212, p<0.05), worse recognized health state(F=20.610, p<.001), lack of sleeping hours(F=3.937, p<0.05), eat irregularly(t=-3.883, p<0.001), don't take a bath after application of chemical(t=-2.950, p<0.01), working time per a day(F=5.633, p<0.01) & working time per a day in Vinylhouse(F=5.247, p<0.01) were long. Subjective physical symptoms were high in accordance with women(t=-3.176, p<0.01), worse recognized health state(F=35.335, p<0.001), and low education(F=3.467, p<0.05). eat irregularly(t=-3.384, p<0.01), alcohol drinking(t=-2.389, p<0.05). When farmers don't take a bath after application of chemical show high(t=-3.188, p<0.01). As a result, the factors affecting to Vinylhouse worker's health were irregular diet habit, scarce exercise, lack of proper rest, symptoms oriented from Vinylhouse work in contaminated environment with high temperature and humidity. Conclusions: Based on this study, health promotion program is necessary for Vinylhouse workers. Also, the development of continuously practical strategy of healthy life style including exercise and comprehensive health promotion program considered the country's social and cultural background are needed.

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Relationship between Stress and Eating Habits of Adults in Ulsan (울산지역 성인 남녀의 스트레스와 식습관)

  • Kim, Hye-Kyung;Kim, Jin-Hee
    • Journal of Nutrition and Health
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    • v.42 no.6
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    • pp.536-546
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    • 2009
  • This study was done to investigate the effect of stress on appetite and eating habits, and other health-related behaviors. The subjects of this study consisted of 188 males and 224 females in Ulsan area. The results were as follows: When stressed, 56% (n = 231) of the subjects experienced a change in appetite and of these, 32% (n = 132) experienced an increased appetite. Stress-induced eating may be one factor contributing to the development of obesity. There was a gender-specific response to stress in which women are more likely to use food to deal with stress, whereas men are more likely to use alcohol consumption or smoking. It was found that types of stressors were individual (52.9%), social (50.7%), family relations (34.5%), work demands (34.2%) and physical environment (32.3%). Stress-induced symptoms of the subjects were anxiety (38.3%), headache (36.7%) and neck or shoulder aches (36.2%), and females experienced those symptoms more than males. Those older than 50 years had a higher eating habit score and lower stress score compared with younger subjects. There were significant differences between sex, age, occupation, family type, BMI, exercise, sleeping hours and eating habits or stress level. This study may be helpful in advancing findings in this area to better provide health professionals with appropriate counseling tools to improve the health of all individuals.

The Meaning of Extraordinary Circumstances under the Regulation No 261/2004 of the European Parliament and of the Council (EC 항공여객보상규칙상 특별한 사정의 의미와 판단기준 - 2008년 EU 사법재판소 C-549/07 (Friederike Wallentin-Hermann v Alitalia) 사건을 중심으로 -)

  • Kim, Young-Ju
    • The Korean Journal of Air & Space Law and Policy
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    • v.29 no.2
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    • pp.109-134
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    • 2014
  • Regulation (EC) No 261/2004 of the European Parliament and of the Council of 11 February 2004 establishing common rules on compensation of assistance to passengers in the event of denied boarding and of cancellation or long delay of flights (Regulation No 261/2004) provides extra protection to air passengers in circumstances of denied boarding, cancellation and long-delay. The Regulation intends to provide a high level of protection to air passengers by imposing obligations on air carriers and, at the same time, offering extensive rights to air passengers. If denied boarding, cancellation and long-delay are caused by reasons other than extraordinary circumstances, passengers are entitled for compensation under Article 7 of Regulation No 261/2004. In Wallentin-Hermann v Alitalia-Linee Aeree Italiane SpA(Case C-549/07, [2008] ECR I-11061), the Court did, however, emphasize that this does not mean that it is never possible for technical problems to constitute extraordinary circumstances. It cited specific examples of where: an aircraft manufacturer or competent authority revealed that there was a hidden manufacturing defect on an aircraft which impacts on safety; or damage was caused to an aircraft as a result of an act of sabotage or terrorism. Such events are not inherent in the normal exercise of the activity of the air carrier concerned and is beyond the actual control of that carrier on account of its nature or origin. One further point arising out of the court's decision is worth mentioning. It is not just necessary to satisfy the extraordinary circumstances test for the airline to be excused from paying compensation. It must also show that the circumstances could not have been avoided even if all reasonable measures had been taken. It is clear from the language of the Court's decision that this is a tough test to meet: the airline will have to establish that, even if it had deployed all its resources in terms of staff or equipment and the financial means at its disposal, it would clearly not have been able - unless it had made intolerable sacrifices in the light of the capacities of its undertaking at the relevant time - to prevent the extraordinary circumstances with which it was confronted from leading to the cancellation of the flight.