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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.

Prediction of Acer pictum subsp. mono Distribution using Bioclimatic Predictor Based on SSP Scenario Detailed Data (SSP 시나리오 상세화 자료 기반 생태기후지수를 활용한 고로쇠나무 분포 예측)

  • Kim, Whee-Moon;Kim, Chaeyoung;Cho, Jaepil;Hur, Jina;Song, Wonkyong
    • Ecology and Resilient Infrastructure
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    • v.9 no.3
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    • pp.163-173
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    • 2022
  • Climate change is a key factor that greatly influences changes in the biological seasons and geographical distribution of species. In the ecological field, the BioClimatic predictor (BioClim), which is most related to the physiological characteristics of organisms, is used for vulnerability assessment. However, BioClim values are not provided other than the future period climate average values for each GCM for the Shared Socio-economic Pathways (SSPs) scenario. In this study, BioClim data suitable for domestic conditions was produced using 1 km resolution SSPs scenario detailed data produced by Rural Development Administration, and based on the data, a species distribution model was applied to mainly grow in southern, Gyeongsangbuk-do, Gangwon-do and humid regions. Appropriate habitat distributions were predicted every 30 years for the base years (1981 - 2010) and future years (2011 - 2100) of the Acer pictum subsp. mono. Acer pictum subsp. mono appearance data were collected from a total of 819 points through the national natural environment survey data. In order to improve the performance of the MaxEnt model, the parameters of the model (LQH-1.5) were optimized, and 7 detailed biolicm indices and 5 topographical indices were applied to the MaxEnt model. Drainage, Annual Precipitation (Bio12), and Slope significantly contributed to the distribution of Acer pictum subsp. mono in Korea. As a result of reflecting the growth characteristics that favor moist and fertile soil, the influence of climatic factors was not significant. Accordingly, in the base year, the suitable habitat for a high level of Acer pictum subsp. mono is 3.41% of the area of Korea, and in the near future (2011 - 2040) and far future (2071 - 2100), SSP1-2.6 accounts for 0.01% and 0.02%, gradually decreasing. However, in SSP5-8.5, it was 0.01% and 0.72%, respectively, showing a tendency to decrease in the near future compared to the base year, but to gradually increase toward the far future. This study confirms the future distribution of vegetation that is more easily adapted to climate change, and has significance as a basic study that can be used for future forest restoration of climate change-adapted species.

Spatio-Temporal Variation Characteristics of Primary Productivity and Environmental Factors of Shellfish Mariculture in Jaran Bay, Korea (자란만 패류양식어장의 기초생산력 및 환경인자 변동 특성)

  • Lee, Dae In;Choi, Yong-Hyeon;Hong, SokJin;Kim, Hyung Chul;Lee, Won-Chan
    • Journal of the Korean Society of Marine Environment & Safety
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    • v.28 no.5
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    • pp.721-734
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    • 2022
  • This study analyzed the spatio-temporal variation characteristics of major environmental factors such as primary productivity (PP), chlorophyll a, nutrients, sinking particle matters, and organic contamination and biochemical composition of surface sediment on a monthly basis for approximately 2 years around shellfish mariculture in Jaran Bay, Korea. In addition, PP in Jaran Bay was compared with that in other coastal areas and related policy plans were proposed. The average PP of the study area was high in summer and autumn with 6.43~115.43 mgC m-2 hr-1 range. This was lower than that in Gamak Bay and Masan Bay, whereas higher than that in Garorim Bay and the West Sea. The PP in coastal waters, where many aquaculture farms were distributed, significantly fluctuated. The different size compositions of phytoplanktons constituting chlorophyll a slightly varied by month, and little restriction existed on the productivity of phytoplanktons owing to the depletion of nutrients. Typically, the Redfield ratio was less than 16, indicating that nitrogen was the limiting factor for the growth of phytoplanktons. The biochemical composition of particulate organic matters in the water column showed the highest carbohydrates, but lipids and protein contents were high in surface sediments. The concentration of TOC and AVS of the surface sediments was high at inside of bay, and sometimes, exceeded the environmental criteria of fishing grounds. The organic C:N ratio of sediments ranged from 8.1 to 10.4 on average. PP had the highest correlation with chlorophyll a, nitrogen and protein of particle organic materials. Recently, chlorophyll a, DIN, and DIP of water column trends tended to decrease, however, the contamination of sediments increased. Considering the annual PP of 125.9 gC m-2 yr-1 and mariculture area (oyster) of 4.97 km2, the annual carbon production from phytoplanktons was estimated to be about 625 tons, and the annual total wet weight of shellfish (oyster) was estimated to be about 6,250 tons.

Evaluation of Spatial Dose Rate in Working Environment during Non-Destructive Testing using Radioactive Isotopes (방사성동위원소를 이용한 비파괴 검사 시 작업환경 내 공간선량률 평가)

  • Cho, Yong-In;Kim, Jung-Hoon;Bae, Sang-Il
    • Journal of the Korean Society of Radiology
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    • v.16 no.4
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    • pp.373-379
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    • 2022
  • The radiation source used for non-destructive testing have permeability and cause a scattered radiation through collisions of surrounding materials, which causes changes in the surrounding spatial dose. Therefore, this study attempted to evaluate and analyze the distribution of spatial dose by source in the working environment during the non-destructive test using monte carlo simulation. In this study, Using FLUKA, a simulation code, simulates 60Co, 192Ir, and 75Se source used in non-destructive testing, The reliability of the source term was secured by comparing the calculated dose rate with the data of the Health and Physics Association. After that, a non-destructive test in the radiation safety facility(RT-room) was designed to evaluate the spatial dose according to the distance from the source. As a result of the spatial dose evaluation, 75Se source showed the lowest dose distribution in the frontal position and 60Co source showed a dose rate of about 15 times higher than that of 75Se and about 2 times higher than that of 192Ir. In addition, the spatial dose according to the distance tends to decrease according to the distance inverse square law as the distance from the source increases. Exceptionally, 60Co, 192Ir, and 75Se sources confirmed a slight increase within 2 m of position. Based on the results of this study, it is believed that it will be used as supplementary data for safety management of workers in radiation safety facilities during non-destructive testing using radioactive isotopes.

Water Level and Quality Variations of CO2-rich Groundwater and Its Surrounding Geology in the Chungju Angseong Spa Area, South Korea: Considerations on Its Sustainability (충주 앙성지역 탄산천의 수위/수질 변동과 주변 지질 특성: 탄산천의 지속가능성에 대한 고찰)

  • Moon, Sang-Ho;Kee, Weon-Seo;Ko, Kyung-Seok;Lee, Cholwoo;Choi, Hanna;Koh, Dong-Chan
    • Economic and Environmental Geology
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    • v.55 no.5
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    • pp.477-495
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    • 2022
  • This study examined the sustainability of CO2-rich water by analyzing the water level and water quality change pattern with the amount of its use in Angseong area, Chungju. The origin and supply of CO2 component were discussed in consideration of 87Sr/86Sr ratio, occurrence of CO2-rich fluid inclusions in nearby W-Mo deposits and other surrounding geological characteristics. According to the data from 1986 to 2017, the depth of the water level of CO2-rich water was significantly lowered in the late period (2009-2015) than in the early period (1986-1992) of the development of hot spa wells, and the optimal yields for pumping tests also showed a tendency to gradual decrease. Concentrations of CO2 component also decreased continuously in the later stages compared to the early stages of development, but it has been stable since 2012. It is inferred that the geological environment related to forming W-Mo quartz vein deposits (0.5×1.5×several km) around the study area are largely involved in the origin and supply of CO2 component, and the supply of CO2 component is not infinitely supplied from deep current magma activity. Rather, since it is finitely supplied from a restricted subsurface region formed in the past geological period, it is necessary to efficiently control its use in order to maintain the sustainability of CO2-rich water in the study area.

Studies on the Selection Efficiency for Clear Rice in the wx - carrier technique. (wx-Carrier Technique를 이용한 맑은 쌀의 선발에 관한 연구)

  • Heu, M.H.;Kim, H.Y.
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.29 no.1
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    • pp.1-10
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    • 1984
  • The main objective of this experiment was to investigate the selection efficiency for clear rice by the application of the wx-carrier technique in rice. Twelve semi-dwarf waxy lines were bred through backcrosses to the two recurrent semi-dwarf parents, IR667 and IR1317, utilizing six different waxy cultivars as waxy donor parent. These waxy lines were crossed to three clear non-waxy varieties, IR24, Suweon 287 and Suweon294. Their F$_3$ seeds were separated into waxy and non-waxy and the clearness of non-waxy grains were counted. The results are summarized as follows: l. Mean clearness per plant for twelve waxy lines ranged from 3.7% to 78.9% at the 35 days after heading. It was higher in the lines which utilized IR 1317 as recurrent parent and it was lower in the lines which utilized IR667 as recurrent parent. Mean clearness per plant for recurrent parent, IRl317 and IR667 were 47.6% and 5.6% respectively. The clear non-waxy parents; Suweon287, IR24 and Suweon294 showed 83.7% 80.5% and 73.5% clearness respectively. 2. Mean clearness of F$_3$ seeds of the crosses between different waxy parents and IR24, Suweon 294 and Suweon 287 ranged 16.7-73.9%, 21.9-42.9% and 10.6-26.9%, respectively. IR24 crosses showed the highest mean clearness. 3. Highly positive correlation was found between the clearness of F$_3$ seeds of Suweon 287 crosses and those of Suweon294. 4. Significant differences were observed in mean clearness of F$_3$ seeds of the crosses between the different waxy lines, which was bred through the same number of backcrosses to the same recurrent parent, and a clear non-waxy parent. Crosses of IR1317 recurrent parent showed higher mean clearness than those of IR667 recurrent parent. 5. In some crosses, clearness was higher in homo-non-waxy than in hetero-non-waxy, but, in other crosses it was higher in hetero-non-waxy. Thus no distinct pattern in the segregation of clearness was observed along the homo-non-waxy or hetero-non-waxy. 6. From the results it was concluded that, the selection efficiency for the clear rice can be improved by choosing the proper waxy parent, as well as proper recurrent parent under the wx-carrier technique.

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Breeding for Improvement of Fatty Acid Composition in Rapeseed XXI. Oil Quality of Fatty Acid Improved Varieties in Cheju Area and Future Production Strategy (유채 지방산조성 개량육종에 관한 연구 제21보 지방산조성 개량품종 보급지역에서의 유질과 금후대책)

  • Lee, Jung-Il;Jung, Dong-Hee;Ryu, Su-Noh
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.39 no.2
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    • pp.165-170
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    • 1994
  • High quality rapeseed cultivars including Nojeokchae, Yeongsanyuchae Halla-yuchae and Tamrayuchae have been released and recommended as a zero erucic acid variety to Cheju farmers for 13 years, where is a major rapeseed production area in korea. However, rapeseeds produced in Cheju island in 1992 and 1993 contained 47.7% and 37.0% of erucic acid respectively resulting in poor quality oil being not adequate for edible oil. It was considered that the zero erucic acid varieties did not have an opportunity to be cultivated in Cheju island by farmers living in the Island. Thus, the new rapeseed varieties without erucic acid should be bred and recommended to the farmers of southern area of Korea as a multiple cropping crop just after rice harvest, and for large scale mechanized and labour-serving rapeseed culture. The change of rapeseed breeding goal would be desirable for fatty acid composition improvement of rapeseed to develop varieties adaptable to southern part of Korea, and to produce rapeseed oil directly used as an edible oil safely.

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Relationship between Planthoppers (Nilaparvata lugens and Sogatella furcifera) and Rice Diseases (멸구류(類)(벼멸구 및 흰등멸구)와 수도병해(水稻病害)의 복합발생피해(複合發生被害)에 관(關)한 연구(硏究))

  • LEE, S.C.;Matias, D.M.;Mew, T.W.;Sorino, J.S.;Heinrichs, E.A.
    • Korean journal of applied entomology
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    • v.24 no.2 s.63
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    • pp.65-70
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    • 1985
  • The locational preference of the brown planthopper (BPH) Nilaparvata lugens ($St{\aa}l$) and the whitebacked plant hopper (WBPH) Sogatella furcifera(Horvath) was studied on rice cultivars IR22 and IR36 as an integral part of subsequent research on insect-fungal pathogen relationships. The BPH was observed to stay consistently on the basal portion while the WBPH showed a general preference for the upper portion regardless of varieties, rice growth stages and insect population density levels. The habitat preference of both species (BPH and WBPH) was found not to be affected by the presence of the other species when both species are present on the same host plant Five rice cultivars with different reactions to BPH biotype 2 were used in the study on BPH-Rhizoctonia solani relationship: IR22 and TN1 (susceptible); Triveni and ASD7 (moderately resistant); and IR42 (resistant). Test plants were inoculated with R. solani (Kuhn) $3{\sim}4$days after insect infestation. Sheath blight disease severity/incidence was significantly higher in the treatment where BPH+R. solani were together than in the treatment with only the pathogen. Symptom expression of the disease in the BPH-pathogen combination was faster and mycelial growth was more profuse inducing the formation of more infection structures. Regardless of varietal reaction to BPH biotype 2, the degree of hopperburn was significantly higher in the combination of the two pests as compared with that of BPH alone. There could be a synergistic relationship between the insect pest and the pathogen indicated by a positive interaction between the two species.

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Studies on the Varietal Response of Soybeans to Nitrogen Application Level under Different Soil Acidity II. Effect of pH and Nitrogen Application on the Growth and Yield of Soybean Cultivars (대두의 토양산도에 따른 질소반응 연구 II. 토양 및 양액의 산도와 질소시용량에 따른 대두의 생육 및 수량반응)

  • Lee, Hong-Suk;Kwon, Oh-Ha;Ahn, Yong-Tae
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.33 no.2
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    • pp.103-111
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    • 1988
  • This study was carried out with two cultivars under two levels of pH and four levels of nitrogen fertilization in a field and nutri-culture experiments to obtain the information about the effects of pH and nitrogen fertilization on the growth and yield of soybean. Acidic condition suppressed the growth of soybean plants, and thus yield and yield components of soybean decreased under acidic condition. But they increased with increased nitrogen fertilization. Especially, these respones were more remarkable under acidic condition and in the variety Jangbaegkong. Grain yield of soybean were highly correlated with the content of allantoin and total nitrogen of soybean plants in the variety Jangbaegkong, but this was not in the variety Danyeobkong. The content of protein and fat of soybean seeds decreased under acidic condition, and more nitrogen fertilization increased the protein content, but decreased the fat content.

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Lodging Liability and Response to Paclobutrazol Application of High Eating Quality Japonica Rice Varieties (밥맛이 좋은 Japonica 벼 품종들의 도복저항성과 도복경감제 paclobutrazol에 대한 반응)

  • Lee, Eun-Woong;Kwon, Yong-Woong;Soh, Chang-Ho
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.32 no.2
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    • pp.224-233
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    • 1987
  • Most of the japonica rice varieties preferred for high eating quality are liable to lodging even under moderate rate of nitrogen application. This lodging liability has been a critical limit even for proper evaluation of physio-logical characteristics of those varieties exhibitable under higher nitrogen levels. Use of recent inhibitors of gibberellin biosynthesis such as ‘Pac1obutrazol’ may allow us to overcome this barrier. The responses of four high eating quality varieties to nitrogen application to the level of 150kg N per ha were evaluated with and without use of Paclobutrazol in comparison with a non-lodging, improved short japonica, Dongjin and a non-lodging, high yielding indica x japonica Milyang 23. The four were Damageum (the best eating quality in the 1930s), Nongrim 6 (the best in the 1960s), Chuchung (the best since 1970s), Koshihikari (the best in Japan since 1960s). As expected increased application of nitrogen increased plant height, length of the 3rd internode, and lodg-ing liability, being measured as culm breaking load, in all varieties tested and caused actual lodging in the fiel from the 50kg Nfha level in Damageum and Koshihikari and at the level of l50kg Nfha in Nongrim 6. Applica-tion of Pac1obutrazol (0.6%G) 15 days before heading reduced plant height, length of the 3rd internode and lodging liability being measured as culm breaking load in all varieties tested. However, the application of Pac1obutrazol during active tillering stage resulted in decreased culm breaking load in Damageum, Nongrim 6, and Koshihikari in spite of the decreased plant height and culm length as in the other varieties. Maximum yield was obtained with 100kg Nand 30kg Pac1obutrazol at 15 days before heading in Nongrim 6, 150kg N and 30kg Pac1obutrazol at 15 days before heading in Damageum, and 150kg N and 20kg Paclobutrazol at 20 days after transplanting plus 30kg Paclobutrazol at 15 days before heading in the variety Koshinhikari and Chuchung. Under a sensory evaluation of cooked rice, the four high eating quality varieties were not different in rank and Paclobutrazol treated rice was not distinguished from the untreated in eating quality.

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