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A Case of Adult-onset Type II Citrullinemia Confirmed by Mutation of SLC25A13 (SLC25A13 유전자 돌연변이로 확진된 성인형 제 2형 시트룰린혈증 1례)

  • Jeung, Min Sub;Yang, Aram;Kim, Jinsup;Park, Hyung-Doo;Lee, Heon Ju;Jin, Dong-Kyu;Cho, Sung Yoon
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.16 no.1
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    • pp.34-41
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    • 2016
  • Adult-onset type II citrullinemia (CTLN2) is characterized by episodes of neurologic symptoms associated with hyperammonemia leading to disorientation, irritability, seizures, and coma. CTLN2 is distinct from classical citrullinemia, which is caused by a mutation of the argininosuccinic acid synthetase (ASS) gene. The serum citrulline level is elevated, while the activity of ASS in liver tissue is decreased. CTLN2 is known to have a poor prognosis if the proper treatment is not taken. We reported a female aged 37 years who developed recurrent attacks of altered consciousness, aberrant behavior, and vomiting. We initially suspected the patient had CTLN2 because of the signs of hyperammonemic encephalopathy, such as altered mentality, memory disturbance, and aberrant behaviors provoked by exercise-induced stress and excessive intravenous amino acid administration. Through her peculiar diet preferences and laboratory findings that included hyperammonemia and citrullinemia, we diagnosed the patient as CTLN2, and SLC25A13 sequencing revealed known compound heterozygous mutations (IVS11+1G>A, c.674C> A). Her parents were heterozygous carriers, and we identified that her older sister had the same mutations. The older sister had not experienced any episodes of hyperammonemia, but she had peculiar diet preferences. The patient and her sister have been well with conservative management. When considering the clinical course of CTLN2, it was meaningful that the older sister could be diagnosed early in an asymptomatic period and that preemptive treatment was employed. Through this case, CTLN2 should be considered in adults who present symptoms of hyperammonemic encephalopathy without a definite etiology. Because of its rare incidence and similar clinical features, CTLN2 is frequently misdiagnosed as hepatic encephalopathy, and it shows a poor prognosis due to the lack of early diagnosis and proper treatment. A high-carbohydrate diet, which is usually used to treat other urea cycle defects, can also exaggerate the clinical course of CTLN2, so proper metabolic screening tests and genetic studies should be performed.

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The Study on Musculoskeletal Symptoms and it's Related Factors in Radio-Technologists (방사선사의 근골격계 증상과 유해 요인에 관한 연구)

  • Lee, Hyang-Seob;Han, Man-Seok
    • Journal of radiological science and technology
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    • v.31 no.3
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    • pp.239-247
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    • 2008
  • In order to study the occurrence of symptoms of musculoskeletal disorders of radio-technologists employed at metropolitan general hospitals and the factors that influence such occurrence, standardized questionnaire by NIOSH that was modified and supplemented to be suitable for conditions in Korea was used. Answers collected from 143 radio-technologists in two weeks from June 13, 2007 were analyzed and the results are as follows. Factor that influence symptoms of musculoskeletal disorders by area were analyzed through multiple logistic regression analysis and the results found that in the neck area, risk increased as the burdening work category 2(Korea ministry of labor)(OR=3.94) and burdening work category 9(Korea ministry of labor)(OR=4.72) increased. In the shoulder region, risk increased as burdening work category 2(Korea ministry of labor)(OR=5.36), burdening work category 7(Korea ministry of labor)(OR=3.90), and burdening work category 9 (Korea ministry of labor)(OR=5.76) increased. In the arm/hand/wrist regions, risk increased as burdening work category 2 (Korea ministry of labor) (OR=6.91), and burdening work category 9 (Korea ministry of labor)(OR=3.76) increased. In the lower back region, risk increased as burdening work category 2 (Korea ministry of labor) (OR=3.06), and burdening work category 8 (Korea ministry of labor)(OR=8.14) increased. In the leg/knees/foot regions, risk increased as burdening work category 2 (Korea ministry of labor) (OR=3.63), and burdening work category 9 (Korea ministry of labor)(OR=2.96) increased. Conclusively, in factors that influence musculoskeletal disorder symptoms in radio-technologists, influence of subjective health conditions, total work experience, experience in current division, and burdening work category 2, 7, 8, and 9 (Korea ministry of labor) were most significant. Therefore, for preventive management, in addition to ergonomic and educational intervention for correcting improper posture during work, efforts for break time adjustment and stress reduction is needed, and encouragement and support for regular exercise is needed.

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Association of Bone Mineral Density with the Metabolic Syndrome (건강검진 수진자들에서 골밀도와 대사증후군의 연관성)

  • Kang, Yeong-Han;Kam, Shin
    • Journal of radiological science and technology
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    • v.31 no.3
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    • pp.259-266
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    • 2008
  • Objective : The purpose of this study was to examine the relationship between bone mineral density (BMD) and the metabolic syndrome. Method : We conducted a cross-sectional study of 1204 adults(males: 364 females: 840) in a general hospital health promotion center. They were grouped into the normal and lower BMD group according to bone loss(osteopenia, osteoporosis), as determined by duel energy X-ray absorptiometery(DEXA). We analyzed the association between BMD and metabolic syndrome by multiple logistic regression analysis. After adjustment for age, weight, alcohol intake, smoking, regular exercise, regular intake of meals, and menopausal status, odds ratios for the prevalence of the metabolic syndrome by gender were calculated for lower BMD. Results : After adjustment for the effect of potential covariates, the prevalence of metabolic syndrome was associated with bone loss in men(p<0.001). If the odds ratio of normal group is 1.00, then that of the lower BMD group is 3.07(95% CI=1.83-5.16). The prevalence of metabolic alterations fitting the criteria of metabolic syndrome was significantly decreased in High BMI, Low HDL in men and in High BMI in women(p<0.05). Conclusions : This study shows that BMD was associated with metabolic syndrome. Further studies needed to obtain evidence concerning the association between BMD and metabolic syndrome.

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The Correlation of Sonographic Finding of Fatty Liver with Hematologic Examination and Body Fat Percentage (초음파상 지방간과 혈액학적 검사 및 체지방률과의 상관관계)

  • Cheon, Hae-Kyung;Lee, Tae-Yong;Kim, Young-Ran
    • Journal of radiological science and technology
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    • v.32 no.4
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    • pp.437-444
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    • 2009
  • Ultrasonography has been used as a basic examination of a medical check up for prevention and diagnostics of diseases. Even the person who has no particular subjective symptoms can have a variety of diseases. Especially fatty liver is found in many cases. In this study, we tested 3582 persons who are in between the ages of 15 to 81 and observed that 1390 persons had fatty liver while 2192 persons are normal. We classified the grade of fatty liver and compared their life styles with the results of liver function test and BMI. The results are as follows. Ratio of the subjects who had a fatty liver is 38.8%. Male and female ratio was 46.2% and 24.2%. On the correlation among the fatty liver, the body mass index and the body fat%, the average value of body mass index and body fat% were significantly higher in the group of the fatty liver than in those of the normal liver. The influence of the related factor and the correlation on the fatty liver was shown that it was more related with the order of age, body mass index, triglyceride, ALT, body fat%, sex, HDL-Cholesterol, LDL-Cholesterol, and GGT. The result of the ultrasonography carried out for the purpose of regular health check up indicates that even the 38.8% of those who was diagnosed as normal condition could have the fatty liver and have possibility of other diseases. Therefore, if there are any troubles related to liver function and lipid through hematologic examination or when practicing follow-up study with ultrasonography concerning the correlation relation between the body fat% and dietary preference, alcohol consumption and exercise, the ultrasonography is definitely useful for prevention and treatment of diseases.

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The Study on Risk Factors Analysis and Improvement of VDT Syndrome in Nuclear Medicine (핵의학과 Video Display Terminals Syndrome 유해 요인 조사 및 개선에 관한 연구)

  • Kim, Jung-Soo;Kim, Seung-Jeong;Lee, Hong-Jae;Kim, Jin-Eui;Kim, Hyun-Joo;Han, In-Im;Joo, Yung-Soo
    • The Korean Journal of Nuclear Medicine Technology
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    • v.14 no.1
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    • pp.61-66
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    • 2010
  • Purpose: Recently, Department of Nuclear Medicine have an interest in Video Display Terminals (VDT) syndrome including musculoskeletal disorders, ophthalmologic disorders, trouble of electromagnetic waves and stress disorders occur to VDT workers as the growing number of users and rapid pace of service period supply in large amount. This study research on the actual condition for VDT syndrome in Nuclear Medicine, Seoul National University Hospital (SNUH), discover the problem and draw a plan of upcoming improvement. The aim of this study establish awareness about VDT syndrome and is to prevent for it in the long run. Materials and Methods: Department of Nuclear Medicine, SNUH is composed Principle part, Pediatric part and PET center. We estimated risk factors visit in each part directly. Estimation method use "Check list for VDT work" of Wonjin working environment health laboratory and check list is condition of VDT work, condition of work tables, condition of chairs, condition of keyboards, condition of monitors, working position, character of health management and other working environment. Analysis result is verified in Department of Occupational and Environment, Hallym University Sacred Heard Hospital. Results: As a result of analysis, VDT condition of Department of Nuclear Medicine, SNUH is rule good. In case of work tables, recent of things are suitable to users upon the ergonomical planning, but 15% of existing work tables are below the standard value. In case of chairs are suitable, but 5% of theirs lost optimum capacity become superannuated. The keyboards are suitable for 98% of standard value. In case of monitors, angle control of screen is possible of all, but positioning control is impossible for 38%. In case of working position, 10% is fixed positioning for long time and some of the items researched unsuitable things for standard. At health management point, needed capable of improvement. Also, other working condition as lighting, temperature, noise and ventilation, discovered the problem, but is sufficient to advice value. Conclusion: VDT syndrome is occurrences of possibility continuously, come economical expensive about improvement, is inherent in various causes and originate without your knowledge. So, there is need systematic management system. In Nuclear Medicine, VDT syndrome make it better that constant interest and effort as improvement of ergonomical working environment, improvement of working procedure, regular exercise and steady stretching, and can be prevented fairly. This promote physical and mental condition of worker in top form in comfortable working environment, so this is judged by enlargement of operations efficiency and rising of satisfaction ratings of the inside client.

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Review of 2014 Major Medical Decisions (2014년 주요 의료판결 분석)

  • Jeong, Hye Seung;Lee, Dong Pil;Yoo, Hyun Jung;Lee, Jung Sun
    • The Korean Society of Law and Medicine
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    • v.16 no.1
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    • pp.155-190
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    • 2015
  • The court sentenced meaningful decisions related to the medical service in 2014. The court assumed the negligence of medical staff in the accident if being broken while using the medical equipment for not an original purpose at the time of surgery and ruled that the compensation for damage can be recognized in recognition of the causal relationship between the explanation duty violation and side effect's happening when unproven surgery on safety is implemented regarding the duty of explanation, that in the case of cosmetic surgery, the subject on the duty of explanation needs to be expanded compared to the general medical practice and that the duty of explanation cannot be accepted for the range that cannot be expectable. Also, the court has provided the requirement and limitation of self-determination exercise in case of the crash between patient's self-determination and doctor's duty of care and has ruled that as automobile insurance contract is a contract with the insurance company to pay regarding liability for car accidents, treating patients and taking the insurance money is not illegal activity even for the unlicensed hospital violating the medical law while established. The judgment stating the opinion that medical practitioners cannot be punished according to the medical law prohibiting the receiving of rebate in case that medical practitioners did not receive benefit while the medical institution itself gained an unfair economic benefit also stands out. And the court has ruled that even if the medical institution who received a business suspension is closed, the suspension is still effective in case that the same operator opens a new medical institution in the same place, ruled on the requirement to conduct a medical service outside of the medical institution that the doctor opened and ruled that the administrative penalty cannot be conducted prior to the conviction on charge of violating the medical law.

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A Cohort Study of Incidence Rate and Causes of School Accidents in a Boys' Middle School in Taegu (남자중학교 학생의 학교사고 발생률과 사고원인에 관한 코호트 연구)

  • Park, Jung-Han;Park, Mi-Wha
    • Journal of Preventive Medicine and Public Health
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    • v.20 no.2 s.22
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    • pp.331-340
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    • 1987
  • To determine the incidence rate of school accidents and its associated factors, a cohort observation was carried out in a boys' high school of a total of 2,324 students for an academic year from March 1986 to February 1987. Data for accidents were collected by the author (school nurse) as students came to the school health station for treatment of accidental injury. Data for school activities were obtained from the diary of academic affairs. A total of 603 students made 1,126 visits to the station for accidental injury during the study period that gave an average 1.9 accidents per student. The average number of visits for accidental injury per day was 5.1 and the incidence rate of accidental injury was 2.2 per 1,000 student days. Each class had about 30 accidents on the average in a year. However there were two classes that had exceptionally high incidence rate of accidents; 54 accidents in one class where 10 athletes were assigned and 58 accidents in the other class where the teacher in charge was On vacation for two months. The highest incidence rate of accident was observed in June (3.4 per 1,000 student days) and the lowest rates were in December and February (1.5 and 0.7 per 1,000 student days, respectively) and there were no appreciable difference by day of week. Accidents were caused by mischief or carelessness of students in 62.2% and by the inappropriate tools and facilities of school in 18.6% . The accidents caused by tools and facilities were mainly due to the antiquated chairs and tables. Referral rate to hospital for severe injury was three times higher in cloudy days and five times higher in rainy days than in clear days. There was almost no accident during the examination period but increased after the examination. Based on these findings, following measures are recommended to prevent school accident: disperse the athletes throughout the classes: should the teacher in charge leave the class for a long period, replace with another teacher who is familiar with the class to keep order; replace or repair the inappropriate tools and facilities; and warn the students for the risk of accident or broadcast music or let the students have light physical exercise to relieve the tension in cloudy or rainy day and after examination.

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Middle School Students' Perception of Body Image and Allowance for Plastic Surgery (중학생의 신체상 지각수준과 성형수술 허용도)

  • Bae, Jin-Ju;Park, Young-Soo
    • The Journal of Korean Society for School & Community Health Education
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    • v.5
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    • pp.25-42
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    • 2004
  • This study set out to investigate the relations between middle school students' perception of body image and their allowance for plastic surgery, to understand their perception of body image and desire for plastic surgery, and provide some data needed to warn against reckless plastic surgery and guide the students effectively. For those purposes, an examination was conducted of the relationships between the individual characteristics and perception levels of body image, the individual characteristics and allowance for plastic surgery, and perception levels of body image and allowance for plastic surgery. The subjects were drawn from sour middle schools located in two regions of Gyeonggi Province. Total 922 boys and girls were surveyed on a questionnaire, which was developed based on the pretest of previous literature, reviewed for appropriateness, and tested for reliability and reasonableness. The body image on the five scale was greater as the perception level was higher. The allowance for plastic surgery was also greater as the scores were more. The findings were as follows: First, the relationships between individual characteristics and perception levels of body image were examined. The third graders showed the highest perception level, being followed by the first and second graders. The girls were more perceptive than the boys, and those who were extrovert were more perceptive than those who were introvert. Those students whose parents earned 2 million won or more a month and who adapted themselves to the environmental changes had a higher perception level. In a word, the girls from the middle class that were well adapted, felt happy, and were extrovert had a higher perception level of body image. Second, the connections between individual characteristics and allowance for plastic surgery were investigated. The third graders were the most admissive of plastic surgery, followed by the second and first graders. That is, the upper graders were more admissive of plastic surgery. In addition, the girls were more admissive than the boys, and those who were extrovert were more than those who were introvert. There were no significant differences according to the monthly income of the parents, grades, adaptability to surroundings, and happiness, which results almost resembled the findings of a study conducted on adults. Third, there were negative correlations found between the perception levels of body image and the allowance for plastic surgery. To elaborate, the higher the perception levels were, the lower the allowance was, and vice versa. As for the items, the subjects showed more allowance for plastic surgery when they scored less in the item of caring about appearance, importance of looking pretty to others, and efforts to improve appearance. When they had a low value of body and easily felt tired, they were highly acceptive of plastic surgery. The allowance for plastic surgery was also great when their perception was much of how healthy they felt, how important they felt about their bodies, how they were satisfied with their current appearances, how they evaluated the appearance of others, how much they were satisfied physically, and how much demanding they were for physical changes. Meanwhile, there were no correlations between the allowance and physical attraction, the degree for one's activities to be hindered, and sickness. In short, the demand for plastic surgery was 41% for the girls and 20.2% for the boys. Just as the study on adults reported, those who had a low or negative perception of body image were more acceptive of plastic surgery. The middle school students were generally positive about their bodies with the lowest perception level at 2.91 and the highest at 3.21. Their individual allowance for plastic surgery was related to their individual body images, which were in turn affected by the mass communication, surrounding environments, and social values. Thus it's necessary for the entire society to try to improve or change the overall perception. Helping measures should be taken so that the students can form right sense of values about their bodies, avoid the obsession with appearance and appearance-based evaluation, and exercise righteous criteria against humans beings and things. In conclusions, the following suggestions were made: they need to develop such questionnaires or tools as can measure the body image of teens and fit the reality. Moreover, body image improvement programs should be more diverse and more applicable to teens. Despite the consistent reports that prove the correlations between body image and plastic surgery, there has been little effort to apply such factors as experience of the life of the disabled, volunteer activities for the disabled and at the hospitals, and others that can induce changes to body image to the body image improvement programs. In the future, comparative research should be carried out on body image and plastic surgery.

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Study on the Health-related Behaviors in Residents from Rural Areas (일부 농촌지역 주민의 건강관련 행태에 관한 연구)

  • Won, Dal-Ho;Lim, Hyun-Sul;Bang, Mi-Ran
    • Journal of agricultural medicine and community health
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    • v.28 no.2
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    • pp.31-48
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    • 2003
  • Objectives: This study evaluated the status of Health-related Behavior in residents from rural areas. A self-administered questionnaire was given to 1,754 people (men; 633 persons, women; 1,121 persons) in rural areas aged over 30 years and under 80 years in Buk-myeon, Uljin-gun and Gigye-myeon, Pohang-si, Gyeongsangbuk-do in 2001 and 2002. Methods: The collected data was analyzed using a chi-square test after an age-adjusted and a chi-square trend test. The data was analyzed using a SPSS/win ver. 10.0. Results: The age-adjusted prevalence of the individual unhealthy behavior according to sex was 56.1% in men and 6.8% in women with regard to smoking; 65.4% and 21.6% with regard to drinking; 72.6% and 76.6% with regard to non-exercise on a regular basis; 23.3% and 28.2 with regard to an obese body mass index; 61.5% and 71.1% with regard to non-scaling in the dental service. The rate of alcohol and tobacco consumption increased with increasing age in both men and women (p<0.01). The age-adjusted proportion in the non-screening examination for stomach cancer according to sex was 49.3% in men and 51.4% in women; 64.0% and 70.7% in liver cancer; 88.9% and 87.5% in colon cancer; 58.3% and 59.1% in undergoing a medical health screening. Conclusions: It is essential for health educators to promote Health-related Behavior in residents in rural areas. In addition, it is expected that the health status of residents in rural areas will improve through efforts to encourage them to take more interest in a healthier lifestyle.

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Differences in Farmer's Syndrome between Greenhouse-Melon Farmers and Rice Farmers (시설참외 및 수도작 농작업자의 농부증 비교)

  • Park, Jong-Seop;Oh, Gyung-Jae
    • Journal of agricultural medicine and community health
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    • v.33 no.1
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    • pp.27-36
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    • 2008
  • =Objectives: This study was conducted to evaluate the diferences in Farmer's syndrome between greenhouse-melon farmers and rice farmers. Methods: The study included 160 residents, who lived in rural community. Of those subjects, 73 and 87 from June 1 to July 30, 2006. Respondents were interviewed by means of a structured questionnaire. Results: This study showed that greenhouse-melon farmers had a lower average age, shorter experience of farming, more working hours per day than rice farmers (p<0.05). n farmers was 38.4% respectively, the prevalence in rice farmers was 22.6%. There was statistically significant diference in the prevalence of Farmer's syndrome between greenhouse-melon and rice farmers (p<0.05). The most frequent symptoms among eight symptoms that constitute the Farmer's syndrome were lumbago, shoulder pain and nocturnal urination regardless of type of farming. But greenhouse-melon farmers had higher prevalence of muskuloskeletal symptoms, such as lumbago and shoulder pain, than rice farmers (p<0.05).Conclusions: These results showed that prevalence of Farmer's syndrome was more common in the tools which reduce physical burden and take a rest and exercise periodically during work in the greenhouse-melon farmers.