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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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Detection of Surface Changes by the 6th North Korea Nuclear Test Using High-resolution Satellite Imagery (고해상도 위성영상을 활용한 북한 6차 핵실험 이후 지표변화 관측)

  • Lee, Won-Jin;Sun, Jongsun;Jung, Hyung-Sup;Park, Sun-Cheon;Lee, Duk Kee;Oh, Kwan-Young
    • Korean Journal of Remote Sensing
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    • v.34 no.6_4
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    • pp.1479-1488
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    • 2018
  • On September 3rd 2017, strong artificial seismic signals from North Korea were detected in KMA (Korea Meteorological Administration) seismic network. The location of the epicenter was estimated to be Punggye-ri nuclear test site and it was the most powerful to date. The event was not studied well due to accessibility and geodetic measurements. Therefore, we used remote sensing data to analyze surface changes around Mt. Mantap area. First of all, we tried to detect surface deformation using InSAR method with Advanced Land Observation Satellite-2 (ALOS-2). Even though ALOS-2 data used L-band long wavelength, it was not working well for this particular case because of decorrelation on interferogram. The main reason would be large deformation near the Mt. Mantap area. To overcome this limitation of decorrelation, we applied offset tracking method to measure deformation. However, this method is affected by window kernel size. So we applied various window sizes from 32 to 224 in 16 steps. We could retrieve 2D surface deformation of about 3 m in maximum in the west side of Mt. Mantap. Second, we used Pleiadas-A/B high resolution satellite optical images which were acquired before and after the 6th nuclear test. We detected widespread surface damage around the top of Mt. Mantap such as landslide and suspected collapse area. This phenomenon may be caused by a very strong underground nuclear explosion test. High-resolution satellite images could be used to analyze non-accessible area.

Estimation of the Optimal Periods for Planting and Felling Larix kaempferi Based on the Period of Its Cambial Activity (형성층 활동 기간을 활용한 일본잎갈나무 식재 및 벌채 적기 추정)

  • YOO, Hye-Ji;JU, Jeong-Deuk;PARK, Jun-Hui;SHIN, Chang-Seob;EOM, Chang-Deuk;SEO, Jeong-Wook
    • Journal of the Korean Wood Science and Technology
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    • v.49 no.5
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    • pp.399-415
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    • 2021
  • This study was conducted to suggest the optimal periods for planting and felling Larix kaempferi tree by monitoring its cambial activity period. In addition, the heat summation to induce the cambial activity of Larix kaempferi was investigated. The study sites were at Mt. Worak and Mt. Midong. After selecting 5 trees at Mt. Worak and Mt. Midong, the cambium samples were collected using a mini trephor with 2 mm diameter from April 7 to October 6, 2017 at Mt. Worak, and from April 7 to September 29, 2017 at Mt. Midong. After the collected cambium samples were embedded in PEG2000, transverse thin sections with a thickness of 10 to 15 ㎛ were prepared using a microtome. One Larix kaempferi sample from each site, Mt. Worak and Mt. Midong, in which the accurate monitoring of cambial activity was impossible due to the formation of traumatic resin canal, was excluded from the study. The observation of the initiation date of cambial activity under a light microscopy revealed that 2 specimens from Mt. Worak and 3 from Mt. Midong showed the initiation on April 28. The remaining 2 specimens of Mt. Worak and 1 specimen of Mt. Midong were initiated on May 4, which was a week later than the others. The heat summation that induced the initiation of cambial activity was 196.4-271.8 at Mt. Worak and 204.7-277.3 at Mt. Midong, which was similar. The termination of cambial activity occurred between August 4 and 25 at Mt. Worak, and between August 4 and September 1 at Mt. Midong. Based on the above results, it was found that the optimal planting period for Larix kaempferi in Mt. Worak and Mt. Midong was before April, about a month before the cambium activity, and the felling period was from October when the cambial activity was completely terminated.

Differences in Seed Vigor, Early Growth, and Secondary Compounds in Hulled and Dehulled Barley, Malting Barley, and Naked Oat Collected from Various Areas (맥종별 주산지와 재배한계지 수집종자의 활력, 초기생장 및 이차화합물 차이)

  • Park, Hyung Hwa;Kuk, Yong In
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.66 no.2
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    • pp.171-181
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    • 2021
  • The purposes of this study were to determine how changes in temperature affect germination rates and growth of hulled and dehulled barley, malting barley, and naked oat plants, and to measure chlorophyll content, photosynthetic efficiency, and secondary compounds (total phenol, total flavonoid, and 2,2-diphenyl-1-picrylhydrazyl (DPPH) radical scavenging activity) in plants grown at 13℃ or 25℃). Various types of barley seeds were collected from areas with ideal conditions for barley cultivation, hereinafter referred to as IA, and also from areas where barley cultivation is more difficult due to lower temperatures, hereinafter referred to as LTA. Seeds were tested for seed vigor. While there were significant differences in the electrical conductivity values between seeds collected from certain specific areas, no significant differences were evident between IA and LTA seeds, regardless of the type of barley seed. When plants were grown at 25℃, there were no significant differences in germination rates, plant height, root length and shoot fresh weight between plants originating from IA and LTA. However, there were differences in the measured parameters of some specific seeds. Similarly, under the low temperature condition of 13℃, no differences in the emergence rate, plant height, and shoot fresh weight were evident between plants originating from IA or LTA, regardless of the type of barley. However, there were differences between some specific seeds. One parameter that did vary significantly was the emergence date. Hulled barley and malting barley emerged 5 days after sowing, whereas naked oats emerged 7 days after sowing. There were no differences in the chlorophyll content and photosynthetic efficacy, regardless of the type of barley. There were no significant differences in total phenol, total flavonoid content, and DPPH radical scavenging activity between plants originating from IA and LTA, regardless of the type of barley. However, there were differences between some specific seeds. In particular, for malting barley the total flavonoid content differed in the order of Gangjin > Changwon > Haenam = Jeonju > Naju. The results indicate that crop growth, yield and content of secondary compounds in various types of barley may be affected by climate change.

Quality and Fruit Productivity of the Second Truss Blooming Seedlings Depending on Concentration of Nutrient Solution in Cherry Tomato (양액 농도에 따른 방울토마토 2화방 개화묘의 소질 및 과실 생산성)

  • Lee, Mun Haeng
    • Journal of Bio-Environment Control
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    • v.31 no.3
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    • pp.230-236
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    • 2022
  • This study was carried out to produce two-flowered seedlings, harvest them early in a greenhouse, and extend the harvest period. This study was carried out to effectively produce the second truss blooming seedlings to harvest tomatoes early and extend the harvest period. For production of the second truss blooming seedlings (one stem), the nutrient solution EC was supplied at 1.5, 2.0, 2.5 dS·m-1, and dynamic management (3.0 → 3.5 → 4.5 dS·m-1). The seedling period was 60 days, which was 20-40 days longer than conventional seedlings, and 10 days longer than the first truss blooming seedlings (cube seedlings). The plant height was 78 and 77 cm in EC 2.5 dS·m-1 and dynamic management respectively, which was shorter than EC 1.5 dS·m-1 with 88 cm. As for the EC in the cube before formulation, dynamic management had the highest EC 5.5 dS·m-1, and the cube supplied with EC 1.5 dS·m-1 had the lowest. The production yield by treatment did not a difference among in the second truss blooming seedlings, but the first truss blooming seedlings showed lower productivity than second truss blooming seedlings. The second truss blooming seedling were harvested 35 days after planting on June 4, the first harvest date, and the first truss blooming were harvested in 42 days on June 11th. There was no difference in plant height and root growth due to bending at frequency planting. In the study on the production of the second truss blooming seedlings (two stem), the nutrient solution EC was supplied under 2.0, 2.5, 3.0 dS·m-1, and dynamic management (3.0 → 3.5 → 4.5 dS·m-1). The seedling period was 90 days, which was 40-50 days longer than conventional seedlings and 10 days longer than the first truss blooming seedlings (cube seedlings). Plant height was 80 and 81 cm in EC 2.0 dS·m-1 and 2.5 dS·m-1 respectively, but was the shortest at 73 cm in dynamic management. EC in the medium increased as the seeding period increased in all treatments. The dynamic management was the highest with EC 5.1 dS·m-1. There was no difference in yield among EC treatments in the second truss blooming seedlings, which had a longer seeding period of about 10 days, produced 15% more than the first truss blooming seedlings. In order to shorten the plant height of the second truss blooming seedlings, it is judged that the most efficient method is increasing the concentration of nutrient solution.

Evaluation of Biomass and Feed Value of Forage Wheat in Central Region at the Paddy by Cultivars (중부지역 논 재배 사료용 밀의 품종별 생산성 및 사료가치 평가)

  • Cho, Hyun Min;Shin, Myeong Na;Shim, Kang Bo;Han, Areum;Jeon, Weon Tai
    • Journal of The Korean Society of Grassland and Forage Science
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    • v.42 no.2
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    • pp.79-88
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    • 2022
  • This study was conducted to evaluate the productivity of whole crop silage wheat utilizing the paddy fields during a couple of years from 2019 to 2021 in Suwon, Korea. This investigation was used the two maturity types of wheat cultivar 'Cheongwoo' (early) and 'Taeu' (late). The heading date of 2nd year (Oct. 2020 to May. 2021) cultivation was delayed about 11 to 13 days by more than 1st year (Oct. 2019 to May. 2020). The growth characteristics were shown that the plant height was increased in 2nd cultivation, while the number of culms and the panicle part ratio were decreased. Moreover, the nutritive value of 'Cheongwoo' and 'Taeu' were also decreased in 2nd cultivation. These changes have thought to a difference of the precipitation by cultivation years. Because, the precipitation during the period from the end of winter dormancy to the harvesting stage in 2nd (337 mm) cultivation was more about twice than 1st (169.3 mm) cultivation. However, the dry matter yield of 'Cheongwoo' was not shown a statistical difference by cultivation years, while 'Taeu' was shown to decrease tendency. The total dry matter yield regardless of the cultivation years were higher in 'Cheongwoo' than 'Taeu', and especially 'Cheongwoo' was more 3 tons per hectare (15.3 t/ha) than 'Taeu' (12.6 t/ha) at 2nd cultivation (p<0.01). The trend of dry weight in 'Cheongwoo', early mature type, showed a relatively high ratio of dry matter (p<0.05) was considered that due to a high panicle ratio by a fast heading and an adequate weight of panicles by a sufficient maturing. In conclusion, selecting the early maturity cultivars could achieve a higher and more stable total dry matter yield considering the cropping system in the central region. Furthermore, it also has the advantage of being able to double-cropping system with forage rice, which has considered the maximum whole-crop forage production year-round. These results suggest that the 'Cheongwoo' be optimum cultivar to produce the year-round forage on paddy fields in the central region.

Musculoskeletal Injuries by Weapons in Korean Soldiers: Four-Year Follow-Up (총기 및 폭발물에 의한 군인의 근골격계 손상: 최근 4년간 분석)

  • Yang, Hanbual;Hwang, Il-Ung;Song, Daeguen;Moon, Gi Ho;Lee, Na Rae;Kim, Kyoung-Nam
    • Journal of the Korean Orthopaedic Association
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    • v.56 no.3
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    • pp.234-244
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    • 2021
  • Purpose: To date, studies of firearm and explosive injuries in the Korean military have been limited compared to its importance. To overcome this, this study examined the characteristics of musculoskeletal damages in soldiers who have suffered firearm and explosive injuries over the past four years. Materials and Methods: From January 2015 to July 2019, military forces who had suffered musculoskeletal injuries from firearms or explosive substances were included. The medical records and radiographs were reviewed retrospectively, and telephone surveys about Short Musculoskeletal Functional Assessment (SMFA) for this group were conducted. To compare the functional outcomes, statistical analysis was performed using a t-test for the types of weapons, and ANOVA for others. Results: Of the 61 patients treated for firearms and explosives injuries, 30 patients (49.2%) were included after undergoing orthopedic treatment due to musculoskeletal injury. The average age at injury was 26.4 years old (21-52 years old). The number of officers and soldiers was similar. Eleven were injured by gunshot and 19 by an explosive device. Sixteen were treated in the Armed Forces Capital Hospital and 10 at private hospitals. More than half of the 16 patients (53.3%) with a fracture had multiple fractures. The most common injury site was the hand (33.3%), followed by the lower leg (30.0%). There were 14 patients (46.7%) with Gustilo-Anderson classification 3B or higher who required a soft tissue reconstruction. Fifteen patients agreed to join the SMFA survey for the functional outcomes. Between officers and soldiers, officers had better scores in the Bother Index compared to soldiers (p=0.0045). Patients treated in the Armed Forces Capital Hospital had better scores in both the Dysfunction and Bother Index compared to private hospitals (p=0.0008, p=0.0149). Conclusion: This is the first study to analyze of weapons injuries in the Korean military. As a result of the study, the orthopedic burden was high in the treating patients with military weapon injuries. In addition, it is necessary to build a military trauma registry, including firearm and explosive injuries, for trauma treatment evaluation and development of military trauma system.

Machine Learning Based MMS Point Cloud Semantic Segmentation (머신러닝 기반 MMS Point Cloud 의미론적 분할)

  • Bae, Jaegu;Seo, Dongju;Kim, Jinsoo
    • Korean Journal of Remote Sensing
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    • v.38 no.5_3
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    • pp.939-951
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    • 2022
  • The most important factor in designing autonomous driving systems is to recognize the exact location of the vehicle within the surrounding environment. To date, various sensors and navigation systems have been used for autonomous driving systems; however, all have limitations. Therefore, the need for high-definition (HD) maps that provide high-precision infrastructure information for safe and convenient autonomous driving is increasing. HD maps are drawn using three-dimensional point cloud data acquired through a mobile mapping system (MMS). However, this process requires manual work due to the large numbers of points and drawing layers, increasing the cost and effort associated with HD mapping. The objective of this study was to improve the efficiency of HD mapping by segmenting semantic information in an MMS point cloud into six classes: roads, curbs, sidewalks, medians, lanes, and other elements. Segmentation was performed using various machine learning techniques including random forest (RF), support vector machine (SVM), k-nearest neighbor (KNN), and gradient-boosting machine (GBM), and 11 variables including geometry, color, intensity, and other road design features. MMS point cloud data for a 130-m section of a five-lane road near Minam Station in Busan, were used to evaluate the segmentation models; the average F1 scores of the models were 95.43% for RF, 92.1% for SVM, 91.05% for GBM, and 82.63% for KNN. The RF model showed the best segmentation performance, with F1 scores of 99.3%, 95.5%, 94.5%, 93.5%, and 90.1% for roads, sidewalks, curbs, medians, and lanes, respectively. The variable importance results of the RF model showed high mean decrease accuracy and mean decrease gini for XY dist. and Z dist. variables related to road design, respectively. Thus, variables related to road design contributed significantly to the segmentation of semantic information. The results of this study demonstrate the applicability of segmentation of MMS point cloud data based on machine learning, and will help to reduce the cost and effort associated with HD mapping.

A study on solar radiation prediction using medium-range weather forecasts (중기예보를 이용한 태양광 일사량 예측 연구)

  • Sujin Park;Hyojeoung Kim;Sahm Kim
    • The Korean Journal of Applied Statistics
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    • v.36 no.1
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    • pp.49-62
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    • 2023
  • Solar energy, which is rapidly increasing in proportion, is being continuously developed and invested. As the installation of new and renewable energy policy green new deal and home solar panels increases, the supply of solar energy in Korea is gradually expanding, and research on accurate demand prediction of power generation is actively underway. In addition, the importance of solar radiation prediction was identified in that solar radiation prediction is acting as a factor that most influences power generation demand prediction. In addition, this study can confirm the biggest difference in that it attempted to predict solar radiation using medium-term forecast weather data not used in previous studies. In this paper, we combined the multi-linear regression model, KNN, random fores, and SVR model and the clustering technique, K-means, to predict solar radiation by hour, by calculating the probability density function for each cluster. Before using medium-term forecast data, mean absolute error (MAE) and root mean squared error (RMSE) were used as indicators to compare model prediction results. The data were converted into daily data according to the medium-term forecast data format from March 1, 2017 to February 28, 2022. As a result of comparing the predictive performance of the model, the method showed the best performance by predicting daily solar radiation with random forest, classifying dates with similar climate factors, and calculating the probability density function of solar radiation by cluster. In addition, when the prediction results were checked after fitting the model to the medium-term forecast data using this methodology, it was confirmed that the prediction error increased by date. This seems to be due to a prediction error in the mid-term forecast weather data. In future studies, among the weather factors that can be used in the mid-term forecast data, studies that add exogenous variables such as precipitation or apply time series clustering techniques should be conducted.

Policosanol Reduces Blood Cholesterol Levels by Inhibiting Sterol Regulatory Element-binding Proteins-1c and Fatty Acid Synthase (Sterol regulatory element-binding proteins-1c와 지방산 합성효소의 억제를 통한 폴리코사놀의 혈중 콜레스테롤 감소)

  • Min Jung Park;Byeong Min An;Dongjun Lee;Ji Myung Choi;Yung Hyun Choi;Bo Sun Joo
    • Journal of Life Science
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    • v.33 no.4
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    • pp.315-324
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    • 2023
  • The underlying action of policosanol in lowering cholesterol level has not yet been clearly elucidated. Several recent studies have suggested that sterol regulatory element-binding proteins (SREBP)-1c play a role in the regulation of cholesterol synthesis via the fatty acid synthesis pathway. To date, no study has evaluated the effects of policosanol on SREBP-1c-mediated fatty acid synthesis. Therefore, this study aimed to investigate whether the SREBP-1c-mediated fatty acid biosynthetic pathway is associated with the cholesterol-lowering effects of policosanol. Seven-week-old C57BL/6 male mice were randomly divided into 7 groups (n=7 per group) and treated for 8 weeks as follows: 1) normal diet (normal control), 2) high-fat diet (HFD), 3) HFD+ethanol (Pol-0), 4) HFD+policosanol 1 mg/kg (Pol-1), 5) HFD+policosanol 2 mg/kg (Pol-2), 6) HFD+policosanol 4 mg/kg (Pol-4), and 7) HFD+simvastatin 50 ㎍/kg (positive control). Policosanol and simvastatin were administered at the same time every day while maintaining the HFD. Body weight and food intake were measured weekly for 8 weeks. After 8 weeks, serum cholesterol levels were measured, histological analysis was carried out, and the expressions of SREBP-1c and fatty acid synthase (FAS) in the liver tissues were examined. Policosanol reduced body weight and the amount of food intake in a dose-dependent manner. Serum cholesterol levels were significantly lowered in the Pol-1 and Pol-4 groups. The expression of SREBP-1c and FAS was also significantly decreased in the Pol-4 group. These results suggest that the cholesterol-lowering effects of policosanol can occur due to the inhibition of the expression of SREBP-1c and FAS.