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A Case of Hunter Syndrome Diagnosed at 7 Months of Age by Exome Sequencing (엑솜시퀀싱을 통해 생후 7개월에 진단된 헌터증후군)

  • Song, Ari;Lee, Jin Sung;Im, Minji;Park, Hyung Doo;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.18 no.2
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    • pp.62-67
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    • 2018
  • Hunter syndrome, also known as mucopolysaccharidosis Type II (MPS II), is one of the lysosomal storage diseases caused by a lack of the enzyme iduronate 2-sulfatase (I2S). Lack of the I2S enzyme activity leads to accumulation of the glycosaminoglycans (GAG), causing dysfunction of multiple organs and systems. MPS II is an X-linked recessive disease due to mutation of IDS gene located on long arm of the X chromosome (Xq28). To date, more than 350 mutations of IDS gene have been identified in Hunter syndrome. Phenotypes of MPS II are classified as either severe or attenuated depending on the degree of cognitive impairment. Because the phenotype of MPS II is related to the type of mutation, identifying mutations is useful in predicting prognosis. We recently had a case of MPS II diagnosed by exome sequencing in a 7 month old boy with infantile spasm uncontrolled by AED. He was diagnosed with hearing loss at 2 months of age, and he took vigabatrin and prednisolone to control infantile spasms diagnosed at 3 months of age. At 6 months of age, whole exome sequencing was performed to evaluate the infantile spasm and hearing loss in this patient, and the mutation c.851C>T (p.Pro284Leu) inherited from hemizygous mother was revealed. The results of urine Cetylpyridinium Chloride (CPC) precipitation test, which were negative until 8 months of age, were positive from 9 months of age. We report a case of MPS II diagnosed by exome sequencing and treated through enzyme replacement therapy from 9 months after birth.

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Application Effects of Organic Fertilizer Utilizing Livestock Horn Meal as Domestic Organic Resource on the Growth and Crop Yields (국내산 유기자원 우각을 활용한 유기질비료의 작물 생육 및 수량에 미치는 영향)

  • Jang, Jae-Eun;Lim, Gab-June;Lee, Jin-Gu;Yoon, Seuong-Hwan;Hong, Sang Eun;Shin, Ki Hae;Kang, Chang-Sung;Hong, Sun-Seong
    • Journal of the Korea Organic Resources Recycling Association
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    • v.27 no.2
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    • pp.19-30
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    • 2019
  • Objective of this study was to develop an organic fertilizer utilizing domestic livestock horn meal and to investigate the application effect of rice and eggplant. The possibility of utilization of livestock horn meal as an organic resource to replace imported expeller cake fertilizer was examined. In order to select domestic organic resources with high nitrogen content, 8 kinds of organic matter such as chicken manure, fish meal, soybean meal, sesame meal, perilla meal, blood meal, livestock horn meal, and beer sludge were analyzed and organic resources with high nitrogen content were selected. In addition, the conditions for the production of organic fertilizers that can be used in organic agriculture were established by mixing of the rice husk biochar and the rice bran as the supplements with the raw materials for mixing ratios. The content of total nitrogen (T-N) in the livestock horn meal was 12.0 %, which was the next low in 13.5 % blood meal. The content of total nitrogen was 5.9 ~ 7.9 % in fish meal and oil cakes. Total nitrogen content of non-antibiotic chicken manure for organic farming was 3 % and nitrogen content in beer sludge was 3.5 %. Organic fertilizer was produced by using biochar, rice bran as a main ingredient of non-antibiotic chicken manure, livestock horn meal and beer sludge. Compared to nitrogen content (4.0 to 4.2 %) of imported expeller cake fertilizer (ECF), the nitrogen content of organic fertilizer utilizing domestic livestock horn meal is as high as 7.5 %. The developed organic fertilizer is met as Zn 400 mg/kg, Cu 120 mg/kg the quality of organic agricultural materials such as or less. To investigate the effect of fertilizer application on the crops, prototypes of developed organic fertilizer were used for the experiment under selected conditions. As a result of application the developed organic livestock horn meal fertilizer (LHMF) for cultivation of the rice and eggplant, the application quantity of the developed organic LHMF 100 % was decreased by 40 % compared to that of the mixed expeller cake fertilizer (MECF). The application of LHMF, which refers to the application rate corresponding to the nitrogen fertilization recommended by the soil test, was reduced by 40% compared to the application rate of MECF, but the same results were obtained in crop growth and yield. The selection of a new high concentration nitrogen source utilizing domestic organic resources and the development of organic fertilizer is the starting point of the research for substitution of imported ECF using domestic local resources at the present time that the spread of eco-friendly agriculture is becoming increasingly important. If it is expanded in the future, it is expected to contribute to the stable production of eco-friendly agricultural products.

Comparison of Productivity and Feed Value at Different Harvest Stages and Seeding Methods of Bermudagrass and Bahiagrass Cultivars (Bermudagrass와 Bahiagrass의 품종별 수확시기 및 파종방법에 따른 생산성 및 사료가치 비교)

  • Lee, Wang Shik;Im, Suk Ju;Kim, Bum Jun;Kim, Young Jin;Kim, Dong Hoon;Hwang, Kyung Jun;Kim, Si Hyun;Woo, Jae Hoon;Park, Nam Geon
    • Journal of The Korean Society of Grassland and Forage Science
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    • v.38 no.4
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    • pp.310-319
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    • 2018
  • The southern type grasses announced for the test were the Bermudagrass cultivars (Giant, Cheyenne, Mohawk, Panchero Frio, Common and Tifton 85) and the Bahiagrass cultivars (TifQuik, Tifton 9), and the changes in the productivity and nutrient content were surveyed in Jeju area (450m altitude). The different cultivars were sowed by broadcasting or drill seeding method, and Tifton 85 was transplanted from sprigs. The fresh and dry matter yield showed varying significant differences for different cultivars (p<0.05). The fresh yields of Tifton 85, TifQuik and Tifton 9 were excellent, compared to the other cultivars, and for the dry matter yield, Tifton 85 and Tifton 9 were excellent when compared to the other cultivars. Crude protein content showed significant differences among different cultivars (p<0.05). Cheyenne, Mohawk, Panchero Frio, and Common showed differences in the crude protein content by sowing method and harvest time (p<0.05). The different cultivars showed differences in the crude fiber content (p<0.05), and Tifton 9 registered significantly high content and Mohawk and Tifton 85 showed significant crude fiber content by harvest time (p<0.05). According to these results, the southern type grass cultivars showed big differences in the regenerative capacity against damage from frost, productivity, and nutrient content, so they need to be chosen according to the purposes, and to increase their usage, their evaluation needs to be conducted at various altitudes.

The Spillover Effect of FDI on GDP -Analysis on Myanmar using GARCH and VAR- (외국인 직접투자의 국민소득에 대한 전이효과 -GARCH와 VAR를 이용한 분석-)

  • Yoon, Hyung-Mo
    • International Area Studies Review
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    • v.21 no.4
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    • pp.41-63
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    • 2017
  • FDI can either be absorbed in the production cycle with domestic investment and create an inducement effect or it can remain as an exogenous factor and increase the volatility of GDP. The purpose of this paper is to research these different impacts that FDI could have. For that, the endogenous growth theory was employed. The statistic method used are the panel model for sectoral analysis, and GARCH model and VAR for time series analysis. Myanmar was selected as this paper's research subject because it is one of countries which had a colossal amount of FDI inflow recently. The panel analysis did not confirm the causality between sectoral FDI and sectoral GDP. The reason for this could be in the lack of data, since sectoral data exists yearly only during 2006-2016. Therefore this study conducted the times series analysis. According to the results, during 2006 until 2010, it showed signs of GARCH but the effect of FDI on GDP was nonexistent, which means FDI was not integrated into the domestic production cycle but stayed in residual terms. During 2011 to 2016, FDI seemed to affect the growth of Myanmar's GDP. The estimation confirmed the existence of GARCH and the Granzer causality test confirmed that FDI influenced the GARCH, which signified FDI increased the volatility of GDP. The VAR analysis showed responses of GDP to FDI was small(about 0.0007). This research assumes that FDI can be divided in two parts: one part which can be assimilated in the domestic production cycle and the other where it stays outside of the production cycle. The former creates production inducement effect and the latter only increases the volatility of GDP. According to this study, the latter outweighs the former impact in Myanmar.

The influence of the decision making time by using point-of-care creatinine in patients with acute abdomen (급성 복증 환자에서 현장검사 크레아티닌을 이용한 의사결정 시간의 단축)

  • Choi, Younhyuk;Cho, Sunguk;Ahn, Hongjoon;Min, Jinhong;Jeong, Wonjoon;Ryu, Seung;Oh, Segwang;Kim, Seunghwan;You, Yeonho;Lee, Jinwoong;Park, Jungsoo;Yoo, Insool;Cho, Yongchul
    • Journal of The Korean Society of Emergency Medicine
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    • v.29 no.6
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    • pp.663-670
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    • 2018
  • Objective: Radio-contrast abdomino-pelvic computed tomography (APCT) is considered the gold standard diagnostic tool for an acute abdomen in the emergency department. On the other hand, APCT has a risk of contrast-induced nephropathy. Emergency physicians evaluate the creatinine (Cr) level prior to taking a APCT for the above reason but it takes time to evaluation the serum Cr level. This study hypothesized that Cr measured by a point-of-care test (POCT) can shorten the time to making clinically important decisions for patients with an acute abdomen. Methods: This prospective randomized study was conducted between March 2017 and October 2017. The subjects were divided into two groups (Cr measured by laboratory vs. Cr measured by POCT). To analyze the clinical acceptability for creatinine, agreement was demonstrated graphically by Bland-Altman plots. This study compared the time to make a clinically important decision by physicians and the length of stay at the emergency department in both groups. Results: A total of 76 patients were eligible for the study, 38 patients were assigned to each group. There was no statistically significant difference in the time to the first medical examination (P=0.222) and emergency department stay time (P=0.802). On the other hand, the time to recognition of the Cr level (P<0.001), time to performing APCT (P<0.001), time to decision making (P<0.001), and time to initiation of treatment (P<0.001) were shortened significantly in the point-of-care creatinine group. Conclusion: In this study, the POCT for creatinine can allow rapid decision making by shortening the time to performing the radio-contrast APCT than the laboratory for patients with an acute abdomen.

Correlation between Corneal Ablation Amount and Intraocular Pressure after Corneal Refractive Surgery (각막굴절교정수술 후 각막절삭량과 안압변화의 상관관계)

  • Jung, Mi-A;Lee, Eun-Hee
    • The Korean Journal of Vision Science
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    • v.20 no.4
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    • pp.543-551
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    • 2018
  • Purpose : The purposes of this study were to evaluate the changes of intraocular pressure according to corneal ablation amount after corneal refractive surgery and the changes of intraocular pressure according to refractive errors before corneal refractive surgery. Methods : The mean age of adults who underwent LASIK corneal refractive surgery were $37.34{\pm}7.42years$, and 108 adults(48 males, 60 females) were participated in this study. Refractive errors, intraocular pressure, and corneal ablation amount were measured using an autorefractor, a noncontact tonometer, and an excimer laser. All test values were considered statistically significant when p<0.05. Results : The mean intraocular pressure before corneal refractive surgery was $15.08{\pm}2.60mmHg$ in males and $14.16{\pm}2.67mmHg$ in females. The decrease of intraocular pressure after corneal refractive surgery were 4.22mmHg in males and 3.61mmHg in females. Spherical equivalent power were $-3.89{\pm}2.17D$ in males and $-4.45{\pm}2.92D$ in females before corneal refractive surgery, and $-0.10{\pm}0.46D$ in males and $-0.04{\pm}0.46D$ in females after corneal refractive surgery. The corneal ablation amount after corneal refractive surgery were statistically significant, with $53.95{\mu}m$ in males and $61.26{\mu}m$ in females. There was significant correlation between corneal ablation amount and decrease of intaocluar pressure(r=0.2299, p<0.001). As the growth of corneal ablation amount in males, the decrease of intraocular pressure was significantly increased. As the growth of refractive error, the amount of decrease in intraocular pressure was also significant. The decrease of intraocualr pressure were $3.04{\pm}2.18mmHg$ in low refractive error, $4.10{\pm}2.16mmHg$ in middle refractive error, and $4.65{\pm}3.29mmHg$ in high refractive error. Conclusion : We found that intraocular pressure decreased after corneal refractive surgery by noncontact tonometer and the change of intraocular pressure which is an important index for glaucoma diagnosis, may affect the judgment of eye disease. We think that a preliminary questionnaire whether corneal refractive surgery is necessary for the measurement of intraocular pressure.

Evaluation of Shelf Life of Non-Pasteurized Egg Yolks, Egg Whites, and Whole Egg Liquid Products in Korea (국내 비살균 전란액, 난백액, 난황액의 유통기한 평가)

  • Kim, Young-Jo;Moon, Hye-Jin;Song, Bo-Ra;Lim, Jong-Soo;Heo, Eun-Jeong;Park, Hyun-Jung;Wee, Sung-Hwan;Moon, Jin-San
    • Journal of Food Hygiene and Safety
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    • v.34 no.1
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    • pp.94-99
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    • 2019
  • The objective of this study is to establish the shelf life of non-pasteurized whole egg, egg yolk and egg white liquid. Each sample was stored for two weeks at $5^{\circ}C$, $10^{\circ}C$, $15^{\circ}C$, and $25^{\circ}C$, and then sensory, microbial, and physicochemical tests were performed periodically. The estimation of shelf life was based on the microbial standards of total viable counts and coliforms. The chemical properties highly correlated with the sensory evaluation were also used. Our results showed that the shelf life was the most influenced by microbial properties. Exceptionally, however, whole egg and white liquid stored at $5^{\circ}C$ and $10^{\circ}C$ with limited bacterial growth were affected by chemical property. The shelf life of the three non-pasteurized liquids was calculated to be less than one day at over $15^{\circ}C$. At $5^{\circ}C$ and $10^{\circ}C$, the shelf life was calculated to be 5 d and 1 d for egg yolk liquid, 5 d and 5 d for egg white, and 7 d and 5 d for whole egg, respectively. Therefore, it is advisable to establish reasonable shelf life in the more specific manner based on consideration of these findings.

Assessment of dietary behaviors among preschoolers in Daejeon: using Nutrition Quotient for Preschoolers (NQ-P) (대전에 거주하는 미취학 아동의 식생활 평가 : 미취학 아동 대상 영양지수 (Nutrition Quotient for Preschoolers, NQ-P)를 이용하여)

  • Lee, Hye-Jin;Kim, Jin Hee;Song, SuJin
    • Journal of Nutrition and Health
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    • v.52 no.2
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    • pp.194-205
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    • 2019
  • Purpose: The aim of this study was to evaluate the dietary behaviors of preschoolers in Daejeon using the Nutrition Quotient for Preschoolers (NQ-P). Methods: The study subjects were recruited from child-care centers and kindergartens located in Daedeok-gu, Daejeon between August and September 2018. A total of 411 preschoolers aged 3 ~ 6 years were included in the data analyses. A questionnaire of NQ-P, which consisted of 14 checklist items on dietary behaviors, was completed by the parents or guardians of the study subjects. The NQ-P scores and its three factors, including "balance", "moderation", and "environment" factors, were calculated according to sex, age, and weight status. Differences in the NQ-P scores and their factors according to sex, age, and weight status were tested using a student's t-test. Results: The mean NQ-P score of the total subjects was $58.5{\pm}9.2$, which was within the medium-low grade. The NQ-P score was $58.5{\pm}9.4$ in boys and $58.6{\pm}9.0$ in girls (p = 0.955). The NQ-P score was similar regardless of the age groups ($57.8{\pm}9.4$ in 3 ~ 4 years vs. $59.2{\pm}9.0$ in 5 ~ 6 years, p = 0.124), whereas subjects aged 5 ~ 6 years showed a significantly higher scores of environment factors than those aged 3 ~ 4 years ($67.9{\pm}16.8$ vs. $61.7{\pm}17.3$). The mean score of the moderation factor was lower in the overweight/obese children compared to the non-overweight/obese children ($46.6{\pm}13.3$ vs. $51.0{\pm}16.2$, p = 0.012). Compared to children aged 3 ~ 4 years, children aged 5 ~ 6 years had higher intakes of vegetable dishes and processed meat. The overweight/obese group showed a higher consumption of processed beverages than the non-overweight/obese group. Conclusion: The current study indicates that the dietary behaviors of preschoolers residing in Daejeon need to be improved. These findings suggest that nutrition education or health interventions targeting young children is necessary for improving their nutritional health status.

A Study on Hospital Infection Management of Radiological Technologist (방사선사의 병원감염관리에 대한 연구)

  • Jeong, Bong-Jae
    • Journal of the Korean Society of Radiology
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    • v.12 no.6
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    • pp.727-735
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    • 2018
  • Targeting the radiological technologists working in Gyoungsangnam province, this study was performed to obtain the fundamental data to improve the competency and right awareness of the hospital infection management, and to educate infection management of radiological technologists by analyzing the status, awareness, and performance of the hospital infection management. During April 1, 2018 to April 31, 2015, after we sent out a total of 400 questionnaires for the survey to radiological technologists working at the clinic located in Gyoungsangnam province, 320 questionnaires suitable for research were analysis by using SPSS 18.0 statistical analysis software. As the hospital infection management factors, 5 items for hospital infection and 60 items of the awareness and performance for the hospital infection management were used. 60 items of the awareness and performance for the hospital infection management were consisted hand hygiene, personal hygiene and clothing, medical equipment and supplies, cleaning and waste, examination and environment. And as the sociodemographic characteristics, the gender, marriage, age, level of education, working organization, working period, and working department were used. Consequentially, the awareness for the hospital infection management($4.19{\pm}.60$) and the performance($4.22{\pm}.52$) were confirmed as high level. Using these results, the hospital infection management level of the radiological technologists working in Gyoungsangnam province was found to be high in arareness and performance of hospital infection management. There was a significant correlation between the degree of awareness and performance of radiological technologists for hospital infection management. Furthermore, in the multiple regression analysis of cognitive factors on performance, it was found that 66.1% explanatory power had a significant positive influence. In order to improve the awareness of hospital infection management of radiological technologist working in various departments, the infection management education and improvement of hospital work environment are necessary. And also, It is important to participate actively in hospital infection management and preventive education and to play a pivotal role in securing expertise in hospital infection management.

The Effects of a Brief Intervention for Insomnia on Community Dwelling Older Adults (지역 사회 노인을 대상으로 한 불면증 단기 치료 프로그램의 효과)

  • Oh, Eui Sun;Park, Kyung Mee;An, Suk Kyoon;Namkoong, Kee;Shim, Da-hye;Lee, Eun
    • Sleep Medicine and Psychophysiology
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    • v.25 no.2
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    • pp.74-81
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    • 2018
  • Objectives: Insomnia is one of the major concerns in the elderly population. Cognitive behavioral treatment for insomnia is the first line treatment option, but there are some limitations including time and cost burdens and the requirement for sufficient cognitive resources to obtain a proper treatment effect. The Brief intervention for insomnia (BII) is a treatment that focuses on behavioral aspects of insomnia in primary care practices. The purpose of this study was to evaluate the effects of BII in community-dwelling older adults. Methods: A total of 47 older adults with insomnia were enrolled from community centers between May 2016 and January 2018. They participated in the BII program for three weeks. We gathered sleep-related participant information with using the Pittsburgh sleep quality index (PSQI), the Sleep hygiene index, and a sleep diary. Clinical efficacy was evaluated by comparing total sleep time (TST), sleep latency (SL), waking after sleep onset (WASO), and sleep efficiency (SE) before and after the treatment. Results: There was significant improvement in sleep-related features after BII. Global score and sleep quality from the PSQI, freshness, and WASO from the sleep diary showed statistically significant improvement. Conclusion: We found BII showed positive clinical efficacy in community dwelling older adults, especially from the perspective of subjective sleep quality and WASO. This finding implies that BII can be effectively applied for the managment of elderly insomnia patients in a community setting.