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Molecular and Phenotypic Characteristics of Patients with Pseudohypoparathyroidism: Single Center's Experience (가성부갑상선기능저하증 환자의 분자유전학적 및 임상적 특징: 단일기관의 경험)

  • Kim, Min-ji;Yoon, Ju Young;Yoo, Sukdong;Lee, Jun;Cheon, Chong Kun
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.21 no.1
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    • pp.7-14
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    • 2021
  • Purpose: Pseudohypoparathyroidism (PHP) is caused by genetic and epigenetic alteration in the GNAS locus, and characterized by the resistance to multiple hormones and the Albright's hereditary osteodystrophy (AHO) phenotype. This study investigated the phenotypic characteristics and molecular features of PHP. Methods: Eight patients who diagnosed as PHP were enrolled at Pusan National University Children's hospital and clinical features, biochemical and genetic findings were retrospectively reviewed. Results: Of a total of 8 patients, 5 were diagnosed with PHP1a, and 3 were diagnosed with PHP1b. Patients with PHP1a had three different mutations in the GNAS gene, and patients with PHPIb had imprinting defect in differentially methylated regions (DMRs) of the GNAS locus. Two novel GNAS variants were identified in patients with PHP1a, including c.313-2A>T and c.1094G>A. All patients with PHP1a displayed AHO features; short stature (80%), brachydactyly (80%), a round face (80%), obesity (40%), heterotopic ossification (60%), and intellectual disability (60%), whereas only one patient (33.3%) with PHP1b showed AHO feature such as a round face. When phenotypic features between PHP1a and PHP1b patients were compared, patients with PHP1b showed a tendency of higher current height standard deviation scores (SDS) compared to patients with PHP1a, (-3.2±2.1 vs.-1.1±0.8; P=0.06) Conclusions: This study summarizes the phenotypic and genetic features of the PHP patients. Although we found considerable clinical overlap between PHP1a and PHP1b, further long-term follow-up is needed to evaluate the growth and development of children with PHP, as well as the effects of end-organ resistances to endocrine hormones.

Study on Deriving Improvements through Analysis of BF Certification Evaluation Indicators for Parks and Park Facilities (공원 및 공원시설 BF인증 평가지표 분석을 통한 개선방향 도출 연구)

  • Kim, Mi Hye;Koo, Bonhak
    • Journal of the Korean Institute of Landscape Architecture
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    • v.50 no.5
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    • pp.13-29
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    • 2022
  • According to the revision of the Convenience Act for Persons with Disabilities, parks and park facilities where the first park development plan is established after December 4, 2021 are mandatory, and parks must be equipped with convenience facilities for the disabled. Hence, this study aims to derive the improvements of the park evaluation index by analyzing the park certification evaluation index, the building certification evaluation index of park facilities, and the evaluation reports of the current certification status cases. As a research method, first, the certification of parks and park facilities were compared and reviewed with the Park Green Act, and differences in the certification process and certification performance were compared and analyzed. Second, differences and common items were derived by analyzing barrier free (BF)-certification evaluation indicators for parks and buildings. Third, improvement plans were derived after analyzing differences and problems in 4 BF-certified parks and four building certification cases of park facilities in certified parks, focusing on the self-evaluation report and examination results. As a result of analyzing the park and building evaluation indicators, the items for which the evaluation purpose, evaluation method, and evaluation items were commonly applied to 7 access roads for each facility, 5 parking areas for the disabled, 2 guide facilities for information facilities, 14 in 5 categories of sanitation facilities, and 1 for other facilities. In the case of sanitation facilities, there is no case where it was evaluated as a park. If the park does not have an attached toilet, the park is certified as a building. Hence, it would be essential to establish the concept of an attached toilet and discuss the application of the evaluation index on the park sanitation facility. The score of buildings in parks and park facilities was lower than that of the self-evaluation results, and the certification grades of buildings declined in three cases. The items with the highest standard deviation were BF walking continuity for parks and the path to the main entrance among access roads for buildings. As a result of analyzing the park and building evaluation results of 19 common evaluation items except for sanitary facilities, the difference in the grades of the evaluation items for each case site except for one item appeared. Therefore, applying common detailed calculation criteria for items evaluated in common with parks and buildings is needed. Since sanitation facilities have no cases of park certification and are not certified as buildings, it is essential to establish the concept of attached toilets and discuss the application of park sanitation evaluation indicators. It is necessary to develop an evaluation index suitable for the characteristics of the park, such as adjusting the items that are not evaluated in parks and establishing an evaluation index considering the ones of parks. It expects that this study would be used as primary data for improving park certification indicators.

An Analysis of the Trends in Academic Research on Invention Gifted Education (발명영재교육에 관한 학술연구 동향 분석)

  • Lee Minhye;Hillenblink Maximilian Ludwig
    • Journal of the International Relations & Interdisciplinary Education
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    • v.3 no.1
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    • pp.1-28
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    • 2023
  • This study was conducted to examine the quantitative trend of domestic studies in invention gifted education, identify the intrinsic meaning and connection attributes in these research analysis, and provide basic data to explore future development plans. To this end, 97 domestic academic papers were finally selected as "Invention Gifted Education" by the Korea Research and Information Service (RISS), technical statistical analysis was conducted with SPSS on publication year, author composition, researcher's affiliation and location area, and published journal. The trend, which had been on the rise since 2007, confirmed by academic papers on gifted education in invention, peaked at the time of the 3rd comprehensive plan for gifted education and has since declined again. As a result of technical statistical analysis of the author's characteristics, half of the papers were jointly published, followed by a number of independent authors. The papers published alone were identified as belonging to universities, research institutes, elementary schools, and middle schools, and the cooperative papers were many studies cooperated with young researchers and professional researchers, and only one collaborative study was conducted between young researchers. When looking at the regions and journals in which the Invention Gifted Education thesis was published, it was concentrated in some regions or journals, and the deviation was very large. As a result of language network analysis using academic paper keywords, creativity and programs were identified as meaningful keywords that showed top appearance, and the keyword pair with high co-appearance was invention gifted-creativity. The keyword of connection-centeredness at the top served as an intermediary for creativity, problem-solving, development, and company to expand to other research topics, and served as a research topic that could be expanded to various topics. In the case of mediation-centeredness, creativity, programs, and effects showed high mediation-centeredness, indicating that it is an important keyword that plays a role in mediating or mediating other keywords. Through these research results, national policy measures need to be prepared for the development of gifted education, and the need to create an invention ecological culture that can enhance teachers' expertise while increasing social responsibility for gifted education.

Fertigation Techniques Using Fertilizers with Peristaltic Hose Pump for Hydroponics (연동펌프를 이용한 비료염 공급 관비재배기술 연구)

  • Kim, D.E.;Lee, G.I.;Kim, H.H.;Woo, Y.H.;Lee, W.Y.;Kang, I.C.
    • Journal of Practical Agriculture & Fisheries Research
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    • v.17 no.1
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    • pp.57-71
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    • 2015
  • This study was conducted to develop the fertigation system with a peristaltic hose pump and brushless DC motor. The fertigation system was consisted of sensor, main controller, motor control unit, peristaltic pump, water supply pump, control panel, and filter. The peristaltic pump discharges liquid by squeezing the tube with rollers. Rollers attached to the external circumference of the rotor compresses the flexible tube. The fluid is contained within a flexible tube fitted inside a circular pump casing. The developed fertigation system has no mixing tank but instead injects directly a concentrated nutrient solution into a water supply pipe. The revolution speed of the peristaltic pump is controlled by PWM (Pulse width modulation) method. When the revolution speed of the peristaltic pump was 300rpm, the flow rate of the 3.2, 4.8, 6.3mm diameter tube was 202, 530, 857mL/min, respectively. As increasing revolution speed, the flow rate of the peristaltic pump linearly increased. As the inner diameter of a tube larger, a slope of graph is more steep. Flow rate of three roller was more than that of four roller. Flow rate of a norprene tube with good restoring force was more than that of a pharmed tube. As EC sensor probe was installed in direct piping in comparison with bypass piping showed good performance. After starting the system, it took 16~17 seconds to stabilize EC. The maximum value of EC was 1.44~1.7dS/m at a setting value of 1.4dS/m. The developed fertigation system showed ±0.06dS/m deviation from the setting value of EC. In field test, Cucumber plants generally showed good growth. From these findings, this fertigation system can be appropriately suitable for fertigation culture for crops.

Fossil Saline Groundwater and Their Flushing Out At Gilsan Stream Catchment in the Western Coastal Area of Seocheon, Korea (서천 해안지역 길산천 소유역에서의 고염분 지하수와 씻김 현상)

  • Sang-Ho Moon;Yoon Yeol Yoon;Jin-Yong Lee
    • Economic and Environmental Geology
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    • v.55 no.6
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    • pp.671-687
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    • 2022
  • It has been reported that about 47% of groundwater wells within 10 km from the coastline in the western/southern coastal areas of Korea were affected by seawater. It has been interpreted that the cause of groundwater salinization is seawater intrusion. The Gilsan stream in the Seocheon area was a tidal stream until the Geumgang estuary dam was constructed and operated. Therefore, it is likely that the Gilsan stream catchment was deposited with sediments containing high-saline formation water prior to the use of landfill farmland at this catchment area. The groundwater in this study area showed EC values ranging from 111 to 21,000 µS/cm, and the water quality types were diverse including Ca(or Na)-HCO3, Ca(or Na)-HCO3(Cl), Na-Cl(HCO3), Na-Cl types. It is believed that this diversity of water quality is due to the mixing of seawater and fresh groundwater generated by infiltration of precipitation and surface water through soil and weathered part. In this study, we discussed whether this water quality diversity and the presence of saline groundwater are due to present seawater intrusion or to remnant high-saline pore water in sediments during flushing out process. For this, rain water, surface water, seawater, and groundwater were compared regarding the water quality characteristics, tritium content, oxygen/hydrogen stable isotopic composition, and 87Sr/86Sr ratio. The oxygen/hydrogen stable isotopic compositions indicated that water composition of saline groundwaters with large EC values are composed of a mixture of those of fresh groundwater and surface water. Also, the young groundwater estimated by tritium content has generally higher NO3 content. All these characteristics showed that fresh groundwater and surface water have continued to affect the high-saline groundwater quality in the study area. In addition, considering the deviation pattern in the diagrams of Na/Cl ratio versus Cl content and SAR (sodium adsorption ratio) versus Cl content, in which two end members of fresh surface-ground water and seawater are assumed, it is interpreted that the groundwater in the study area is not experiencing present seawater intrusion, but flush out and retreating from ancient saline formation water.

Feasibility Assessment on the Application of X-ray Computed Tomography on the Characterization of Bentonite under Hydration (벤토나이트 수화반응 특성화를 위한 X선 단층촬영 기술 적용성 평가)

  • Melvin B., Diaz;Gyung Won, Lee;Seohyeon, Yun;Kwang Yeom, Kim;Chang-soo, Lee;Minseop, Kim;Jin-Seop, Kim
    • Tunnel and Underground Space
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    • v.32 no.6
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    • pp.491-501
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    • 2022
  • Bentonite has been proposed as a buffer and backfill material for high-level radioactive waste repository. Under such repository environment conditions, bentonite is subjected to combined thermal, hydrological, mechanical, and chemical processes. This study evaluates the feasibility of applying X-ray CT technology on the characterization of bentonite under hydration conditions using a newly developed testing cell. The cylindrical cell is made of platic material, with a removable cap to place the sample, enabling to apply vertical pressure on the sample and to measure swelling pressure. The hydration test was carried out with a sample made of Gyeonju bentonite, with a dry density of 1.4 g/cm3, and a water content of 20%. The sample had a diameter of 27.5 mm and a height of 34 mm. During the test, water was injected at a constant pressure of 0.207 MPa, and lasted for 7 days. After one day of hydration, bentonite swelled and filled out the space inside the cell. Moreover, CT histograms showed how the hydration process induced an initial increase and later progressive decrease on the density of the sample. Detailed profiles of the mean CT value, CT standard deviation, and CT gradient provided more details on the hydration process of the sample and showed how the bottom and top regions exhibited a decrease on density while the middle region showed an increase, especially during the first two days of hydration. Later, the differences in CT values with respect to the initial state decreased, and were small at the end of testing. The formation and later reduction of cracks was also characterized through CT scanning.

Normal Korean Femoral Neck Anteversion, Acetabular Anteversion and Combined Anteversion Measured with Computed Tomography (컴퓨터 단층 촬영으로 계측한 정상 한국 성인에서의 대퇴 경부 전경사, 비구 전경사 및 합산 전경사)

  • Kim, Bum-Soo;Kim, Seong-Tae;Wi, Seung Myung;Choi, Won Rak;Kim, Dong Suk
    • Journal of the Korean Orthopaedic Association
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    • v.54 no.3
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    • pp.261-268
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    • 2019
  • Purpose: The authors measured the anteversion of the femoral neck and acetabulum and the sum of the two values in normal Korean people by computed tomography. The authors examined the normal range of the values to analyze the difference in sex and sides as well as the relationship between the femoral neck and acetabular anteversion. Materials and Methods: The authors measured the anteversion of the femoral neck and acetabulum in 118 normal Korean adult males and 114 females aged between 21 and 49 on both the right and left sides by computed tomography and calculated the sum of anteversion. The authors analyzed the mean and standard deviation, and investigated the sex differences and side differences, as well as the relationship between the acetabular anteversion and femoral neck anteversion statistically. Results: The anteversion of the acetabulum in males was 15.3°±6.1° on the right side and 15.3°±6.6° on the left side. The anteversion of the femoral neck in males was 5.3°±7.6° on the right side and 1.5°±9.2° on the left side according to the Hernandez et al. method. The anteversion of acetabulum in females was 16.8°±5.4° on the right side and 16.3°±5.8° on the left side. The anteversion of femoral neck in females was 10.3°±8.2° on the right side and 7.9°±8.2° on the left side according to Hernandez et al. method. No difference in acetabular anteversion, and a significant difference in the femoral neck anteversion on both the right and left sides were observed between males and females. No difference of acetabular anteversion was observed between the right and left sides, but a significant difference in femoral neck anteversion was noted between the right and left sides measured by either the Hernandez et al. method or Weiner et al. method. The Pearson coefficient revealed no correlation between the femoral neck anteversion and acetabular anteversion. Conclusion: No difference in the acetabular anteversion was observed, but there was a significant difference in femoral neck anteversion between males and females. A significant difference in femoral neck anteversion was observed between the right and left sides. No correlation was noted between the anteversion of the femoral neck and acetabulum.

Descriptive Study for Sonographic Morphology of the 1st Facet of Subscapularis Footprint (견갑하건 부착부의 제1부착면에 대한 초음파 소견의 기술적 연구)

  • Sohn, Hoon-Sang;Wi, Chan Kuk;Shon, Min Soo
    • Journal of the Korean Orthopaedic Association
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    • v.54 no.4
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    • pp.343-352
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    • 2019
  • Purpose: The purpose of this study was to document the sonographic morphology of the subscapularis footprint, particularly the 1st facet, of the non-pathologic subscapularis tendon and footprint, and analyze the correlation between the size of the 1st facet and the demographic variables. Materials and Methods: Between March 2015 and December 2017, retrospectively data analysis was performed for the ultrasound (US) scans of 115 consecutive shoulder (mean age 53.4 years, range 23-74 years) with non-pathologic subscapularis tendon and footprint. The sonographic findings of the 1st facet of the subscapularis footprint was a very unique, flat, broad, and plane angle in the upward direction, which were distinguished from the other facets. On US, the transverse (medio-lateral) and longitudinal (superior-inferior) length of the 1st facet on axis of the humerus shaft were recorded. The demographic variables, including age, site, body height, weight, body mass index (BMI), and arm length, were reviewed. Results: On US, the mean transverse length of the 1st facet was 12.75 mm (range 10.54-14.50 mm, standard deviation [SD] 0.712) and the mean longitudinal length was 12.22 mm (range 9.20-13.30 mm, SD 0.888). The transverse and longitudinal length of the size of the 1st facet were significantly greater in males than in females (p<0.001, p=0.001). Of the demographic data (body height, weight, BMI, arm length) that showed a significant positive linear correlation, the correlation with body height (transverse r=0.749, p<0.001; longitudinal r=0.642, p<0.001) showed the strongest relationship, and the correlation with the BMI was weakly related. The relationships between the size of the 1st facet to site/age were not statistically significant or appeared to have no linear correlation. Conclusion: The structural and morphologic features of the 1st facet of the subscapularis footprint on the US were identified. This will provide anatomic knowledge of an US examination for subscapularis tendon pathology.

Comparative and Feasibility Evaluation of Detection Ability of Relative Dosimeters using CsPbI2Br and CsPbIBr2 Materials in Brachytherapy QA (근접방사선치료 QA에서 CsPbI2Br과 CsPbIBr2를 이용한 상대 선량계들의 검출 능력 비교 및 적용가능성 평가)

  • Seung-Woo Yang;Sung-Kwang Park
    • Journal of the Korean Society of Radiology
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    • v.17 no.3
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    • pp.433-440
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    • 2023
  • High dose rate brachytherapy is a cancer treatment that intensively irradiates radiation to tumors by inserting isotopes with high dose rates into the body. For such a treatment, it is necessary to deliver an accurate dose to the tumor tissue through an accurate treatment plan while delivering only a minimum dose to the normal tissue. Therefore, it is very important to check the location accuracy of the source through accurate Quality Assurance (QA) in clinical practice. However, since the source position is determined using a ruler, automatic radiographer, video monitor, etc. in clinical practice, it yields inaccurate results. In this study, a semiconductor dosimeter using CsPbI2Br and CsPbIBr2 was fabricated. And, in order to analyze whether it is more suitable for the relative QA dosimeter for brachytherapy device among the two materials, the radiation detection ability of each was compared and evaluated. In order to evaluate the radiation detection ability in brachytherapy, the reproducibility and linearity of the two materials were evaluated in 192IR. In the reproducibility evaluation, CsPbI2Br presented a Relative Standard Deviatio(RSD) of 0.98% and CsPbIBr2 presented an RSD of 3.45%. In the linearity evaluation, the coefficient of determination (R2) of CsPbI2Br was presented as 0.9998, and the R2 of CsPbIBr2 was presented as 0.9994. As a result of the evaluation, it was found that CsPbI2Br was more stable in radiation detection while satisfying the evaluation criteria in the dosimeter manufactured in this experiment. Therefore, CsPbI2Br material is suitable for application as a relative dosimeter for radiation detection in brachytherapy devices.

Selection and Validation of an Analytical Method for Trifludimoxazin in Agricultural Products with LC-MS/MS (LC-MS/MS를 이용한 농산물 중 Trifludimoxazin의 시험법 선정 및 검증)

  • Sun Young Gu;Su Jung Lee;So eun Lee;Chae Young Park;Jung Mi Lee;Inju Park;Yun Mi Chung;Gui Hyun Jang;Guiim Moon
    • Journal of Food Hygiene and Safety
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    • v.38 no.3
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    • pp.79-88
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    • 2023
  • Trifludimoxazin is a triazinone herbicide that inhibits the synthesis of protoporphyrinogen oxidase (PPO). The lack of PPO damages the cell membranes, leading to plant cell death. An official analytical method for the safety management of trifludimoxazin is necessary because it is a newly registered herbicide in Korea. Therefore, this study aimed to develop a residual analysis method to detect trifludimoxazin in five representative agricultural products. The EN method was established as the final extraction method by comparing the recovery test and matrix effect with those of the QuEChERS method. Various sorbent agents were used to establish the clean-up method, and no differences were observed among them. MgSO4 and PSA were selected as the final clean-up conditions. We used LC-MS/MS considering the selectivity and sensitivity of the target pesticide and analyzed the samples in the MRM mode. The recovery test results using the established analysis method and inter-laboratory validation showed a valid range of 73.5-100.7%, with a relative standard deviation and coefficient of variation less than 12.6% and 14.5%, respectively. Therefore, the presence of trifludimoxazin can be analyzed using a modified QuEChERS method, which is widely available in Korea to ensure the safety of residual insecticides.