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A Case Report of Novel Mutation in GNPTAB in Two Siblings with Mucolipidosis Type III Alpha/beta (GNPTAB 유전자에서 새로운 돌연변이가 확인된 뮤코지방증 III형 남매)

  • Kim, Min-Sun;Park, Esther;Song, Ari;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.3
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    • pp.99-106
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    • 2018
  • Mucolipidosis type III (pseudo-Hurler polydystrophy) is a mucolipids degrading disorder caused by a mutation in the GNPTAB gene and is inherited by autosomal recessive. It is diagnosed by examining highly concentrated mucolipids in blood and the diagnosis can be confirmed by genetic testing. Mucolipidosis type III is a rare and progressive metabolic disorder. Its initial signs and symptoms usually occur around 3 years of age. Clinical manifestations of the disease include slow growth, joint stiffness, arthralgia, skeletal abnormalities, heart valve abnormalities, recurrent respiratory infection, distinctive facial features, and mild intellectual disability. Here, we are presenting two siblings of mucolipidosis type III, a 4-year-old female and a 2 years and 7 months old male with features of delayed growth and coarse face. The diagnosis was confirmed by [c.2715+1G>A(p.Glu906Leufs*4), c.2544del(p.Glu849Lysfs*22)] mutation in targeted gene panel sequencing. In this case, c.2544del is a heterozygote newly identified mutation in mucolipidosis type III and was not found in the control group including the genome aggregation database. And it is interpreted as a pathogenic variant considering the association with phenotype. Here, we report a Korean mucolipidosis type III patients with novel mutations in GNPTAB gene who have been treated since early childhood. Owing to recent development of molecular genetic techniques, it was possible to make early diagnosis and treatment with pamidronate was initiated appropriately in case 1. In addition to these supportive therapies, efforts must be made to develop fundamental treatment for patients with early diagnosis of mucolipidosis.

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Development and Validation of an Analytical Method for Fungicide Sedaxane Determination in Agricultural Products using LC-MS/MS (LC-MS/MS를 이용한 농산물 중 살균제 Sedaxane의 잔류시험법 개발 및 검증)

  • Cho, Sung Min;Do, Jung-Ah;Park, Shin-Min;Lee, Han Sol;Park, Ji-Su;Shin, Hye-Sun;Jang, Dong Eun;Choi, Young-Nae;Jung, Yong-hyun;Lee, Kangbong
    • Journal of Food Hygiene and Safety
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    • v.34 no.1
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    • pp.30-39
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    • 2019
  • An analytical method was developed for the determination of sedaxane in agricultural products using liquid chromatograph-tandem mass spectrometry (LC-MS/MS). The samples were extracted with acetonitrile and partitioned with dichloromethane to remove the interference, and then purified by using silica SPE cartridges to clean up. The analytes were quantified and confirmed by using LC-MS/MS in positive ion mode using multiple reaction monitoring (MRM). The matrix-matched calibration curves were linear over the calibration ranges ($0.001-0.25{\mu}g/mL$) into a blank extract with $r^2$>0.99. For validation, recovery tests were carried out at three different concentration levels (LOQ, 10LOQ, and 50LOQ, n=5) with five replicates performed at each level. The recoveries were ranged between 74.5 to 100.8% with relative standard deviations (RSDs) of less than 12.1% for all analytes. All values were consistent with the criteria ranges requested in the Codex guidelines (CAC/GL 40, 2003) and Food Safety Evaluation Department guidelines (2016). The proposed analytical method was accurate, effective and sensitive for sedaxane determination in agricultural commodities.

Study on the Application of Ultrasound Traits as Selection Trait in Hanwoo (한우 선발형질로써 초음파 형질의 활용방안 연구)

  • Choi, Tae Jeong;Choy, Yun Ho;Park, Byoungho;Cho, Kwang Hyun;Alam, M;Kang, Ha Yeon;Lee, Seung Soo;Lee, Jae Gu
    • Journal of agriculture & life science
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    • v.51 no.2
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    • pp.117-126
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    • 2017
  • Hanwoo young bulls are selected based on performance test using the weight at 12 months and pedigree index comprising marbling score. Pedigree index was not based on the progeny tested data but the breeding value of the proven bulls; resulting a lower accuracy. The progeny testing of the young bulls was categorized into testing at farm and at the test station. The farm tested data was difficult to compare with those from test station data. Farm tested bulls had different slaughter ages than those for test station bulls. Therefore, this study had considered a different age at slaughter for respective records on ultrasound traits. Records on body weight at 12 months, ultrasound measures at 12 and 24 months(uIMF, uEMA, uBFT, and uRFT), and carcass traits(CWT, EMA, BFT, and MS) were collected from steers and bulls of Hanwoo national improvement scheme between 2008 and 2013. Fixed effects of batch, test date, test station, personnel for measurement, personnel for judging, and a linear covariate of weight at measurement were fitted in the animal models for ultrasound traits. The ranges of heritability estimates of the ultrasound traits at 12 and 24 months were 0.21-0.43 and 0.32-0.47, respectively. Ultrasound traits at 12 and 24 months between similar carcass traits was genetically correlated at 0.52-0.75 and 0.86-0.89, respectively.

The Clinical Utility of Korean Bayley Scales of Infant and Toddler Development-III - Focusing on using of the US norm - (베일리영유아발달검사 제3판(Bayley-III)의 미국 규준 적용의 문제: 미숙아 집단을 대상으로)

  • Lim, Yoo Jin;Bang, Hee Jeong;Lee, Soonhang
    • Korean journal of psychology:General
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    • v.36 no.1
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    • pp.81-107
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    • 2017
  • The study aims to investigate the clinical utility of Bayley-III using US norm in Korea. A total of 98 preterm infants and 93 term infants were assessed with the K-Bayley-III. The performance pattern of preterm infants was analyzed with mixed design ANOVA which examined the differences of scaled scores and composite scores of Bayley-III between full term- and preterm- infant group and within preterm infants group. Then, We have investigated agreement between classifications of delay made using the BSID-II and Bayley-III. In addition, ROC plots were constructed to identify a Bayley-III cut-off score with optimum diagnostic utility in this sample. The results were as follows. (1) Preterm infants have significantly lower function levels in areas of 5 scaled scores and 3 developmental indexes compared with infants born at term. Significant differences among scores within preterm infant group were also found. (2) Bayley-III had the higher scores of the Mental Development Index and Psychomotor Developmental Index comparing to the scores of K-BSID-II, and had the lower rates of developmental delay. (3) All scales of Bayley-III, Cognitive, Language and Motor scale had the appropriate level of discrimination, but the cut-off composite scores of Bayley-III were adjusted 13~28 points higher than 69 for prediction of delay, as defined by the K-BSID-II. It explains the lower rates of developmental delay using the standard of two standard deviation. This study has provided empirical data to inform that we must careful when interpreting the score for clinical applications, identified the discriminating power, and proposed more appropriate cut-off scores. In addition, discussion about the sampling for making the Korean norm of Bayley-III was provided. It is preferable that infants in Korea should use our own validated norms. The standardization process to get Korean normative data must be performed carefully.

Selection of Rice Varieties for Production of High Quality Rice in Southern Area of Korea (남부 주요 지역별 고품질 쌀 생산을 위한 적정 품종 선발)

  • Seong, Deok-Gyeong;Jin, Young-Min;Kim, Young-Gwang;Joung, Wan-Kyu;Kim, Cheol Soo;Chung, Jung-Sung
    • Journal of agriculture & life science
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    • v.53 no.2
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    • pp.87-95
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    • 2019
  • This study was carried out to select the rice variety for high quality rice according to reducing N application level (7 kg/10 a) in medium altitude and plain of southern Korea. It was cultivated to seven varieties and ten varieties in medium altitude and plain region respectively in this study. In medium altitude region, the yield of head rice was higher in most varieties except for Borami (526 kg/10 a) than the control variety, Chucheongbyeo (533 kg/10 a). On the other hand, Borami, Gopumbyeo, and onnuri were lower in head rice rate than the other varieties. In addition, Borami and Chucheongbyeo shown a lodging risk but the other varieties were safe against lodging. The milled rice protein content of Chucheongbyeo was 6.1% and the other varieties protein content was similar or lower than that of control except for Borami(6.3%). In plain region, the head rice yield of Nampyeongbyeo (527 kg/10 a) was higher than that of control variety, Ilmibyeo (503 kg/10 a). Head rice rate was lower in Hopumbyoe, Sindongjin, and Chilbobyeo than the other varieties. The varieties contained lower protein content compared Ilmibyeo (6.1%) were Hopumbyeo (5.9%), Jinsumi (6.0%), Sindongjin (5.9%), Chilbobyeo (6.0%), Hwangeumnodeul (5.8%), Hopyeongbyeo (6.0%). Amylose content, whiteness, and palatability (Toyo value) were no significant difference among varieties in two different regions. In conclusion, considering head rice rate, yield of head rice, protein content, lodging resistance, ripening rate and palatability, Pungmi1ho, Saenuri, Chilbobyeo in medium altitude region and Jinsumi, Hwanggumnodul in plain region were selected as proper rice varieties for high quality rice production in southern Korea.

Marginal and internal fit of interim crowns fabricated with 3D printing and milling method (3D 프린팅 및 밀링 방법으로 제작된 임시 보철물 적합도 비교 분석)

  • Son, Young-Tak;Son, KeunBaDa;Lee, Kyu-Bok
    • Journal of Dental Rehabilitation and Applied Science
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    • v.36 no.4
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    • pp.254-261
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    • 2020
  • Purpose: The purpose of this study was to assess the marginal and internal fit of interim crowns fabricated by two different manufacturing method (subtractive manufacturing technology and additive manufacturing technology). Materials and Methods: Forty study models were fabricated with plasters by making an impression of a master model of the maxillary right first molar for ceramic crown. On each study model, interim crowns (n = 40) were fabricated using three types of 3D printers (Meg-printer 2; Megagen, Zenith U; Dentis, and Zenith D; Dentis) and one type milling machine (imes-icore 450i; imes-icore GmbH). The internal of the interim crowns were filled with silicon and fitted to the study model. Internal scan data was obtained using an intraoral scanner. The fit of interim crowns were evaluated in the margin, absolute margin, axial, cusp, and occlusal area by using the superimposition of 3D scan data (Geomagic control X; 3D Systems). The Kruskal-wallis test, Mann-Whitney U test and Bonferroni correction method were used to compare the results among groups (α = 0.05). Results: There was no significant difference in the absolute marginal discrepancy of the temporary crown manufactured by three 3D printers and one milling machine (P = 0.812). There was a significant difference between the milling machine and the 3D printer in the axial and occlusal area (P < 0.001). The temporary crown with the milling machine showed smaller axial gap and higher occlusal gap than 3D printer. Conclusion: Since the marginal fit of the temporary crown produced by three types of 3D printers were all with in clinically acceptable range (< 120 ㎛), it can be sufficiently used for the fabrication of the temporary crown.

Water Digital Twin for High-tech Electronics Industrial Wastewater Treatment System (II): e-ASM Calibration, Effluent Prediction, Process selection, and Design (첨단 전자산업 폐수처리시설의 Water Digital Twin(II): e-ASM 모델 보정, 수질 예측, 공정 선택과 설계)

  • Heo, SungKu;Jeong, Chanhyeok;Lee, Nahui;Shim, Yerim;Woo, TaeYong;Kim, JeongIn;Yoo, ChangKyoo
    • Clean Technology
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    • v.28 no.1
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    • pp.79-93
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    • 2022
  • In this study, an electronics industrial wastewater activated sludge model (e-ASM) to be used as a Water Digital Twin was calibrated based on real high-tech electronics industrial wastewater treatment measurements from lab-scale and pilot-scale reactors, and examined for its treatment performance, effluent quality prediction, and optimal process selection. For specialized modeling of a high-tech electronics industrial wastewater treatment system, the kinetic parameters of the e-ASM were identified by a sensitivity analysis and calibrated by the multiple response surface method (MRS). The calibrated e-ASM showed a high compatibility of more than 90% with the experimental data from the lab-scale and pilot-scale processes. Four electronics industrial wastewater treatment processes-MLE, A2/O, 4-stage MLE-MBR, and Bardenpo-MBR-were implemented with the proposed Water Digital Twin to compare their removal efficiencies according to various electronics industrial wastewater characteristics. Bardenpo-MBR stably removed more than 90% of the chemical oxygen demand (COD) and showed the highest nitrogen removal efficiency. Furthermore, a high concentration of 1,800 mg L-1 T MAH influent could be 98% removed when the HRT of the Bardenpho-MBR process was more than 3 days. Hence, it is expected that the e-ASM in this study can be used as a Water Digital Twin platform with high compatibility in a variety of situations, including plant optimization, Water AI, and the selection of best available technology (BAT) for a sustainable high-tech electronics industry.

The Validation of a Commercial Testosterone RIA Test Kits (Testosterone RIA 검사 kit 별 유효성 비교평가)

  • Ryu, Hwa-jin;Shin, Seon-yeong;Cho, Seong-uk
    • The Korean Journal of Nuclear Medicine Technology
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    • v.26 no.1
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    • pp.38-41
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    • 2022
  • Purpose Testosterone is a steroid hormone synthesized by the Leydig cells of the testes in men, and by the adrenal cortex and ovaries in women. Testosterone production is regulated by luteinzing hormone secreted by the anterior pituitary gland. In this experiment, the effectiveness of testosterone radioimmunoassay (RIA) kits produced by three companies was evaluated and compared in case the production of testosterone kits was stopped or supply problems occurred. Materials and Methods In October 2021, samples were collected from the patients (n=49) who requested the testosterone RIA test. The experiment was conducted by dividing the patient's sample into low concentration (1.0 ng/mL or less), medium concentration (2.0-4.0 ng/mL) and high concentration (6.0 ng/mL or more). The Testosterone RIA test compared and evaluated the validity of Company A kits used in this hospital and those of Company B and C used in other hospitals. The precision, sensitivity, recovery, linearity and correlation were evaluated for each kit. The testosterone RIA test was carried out in accordance with the insert kit manual for each manufacturer. Results As a result of measuring the precision of the intra assay, the Coefficient of Variation (CV) value of the company A kit was high at 11.4% only in the low concentration sample, and in the case of the company B and C kits, the CV value was less than 10% at low, medium, and high concentrations. In the inter-assay precision measurement, the CV value was less than 15% in both A and C kits, but in the case of the B kit, the CV value exceeded 15% at low and medium concentrations. Sensitivity was 0.13 ng/mL for company A, 0.01 ng/mL for company B, and 0.01 ng/mL for company C, and the linearity of all three kits showed excellent linearity. In the case of recovery rate, all of the A, B, and C company kits showed results that were out of 90-110%. In the case of correlation test, when compared with the company A kit currently use in here, the correlation coefficient (R2) value for the company B kit was 0.9508, and for the company C kit was 0.9352 Conclusion As a result, there was a slight difference in precision at the low concentration sample. The correlation test showed an excellent correlation coefficient. However, it was difficult to secure samples of various concentrations because there were not many tests of testosterone requested at this hospital. So, additional experiments should be carried out by acquiring samples of various concentrations on each laboratory later.

Biological Treatment of Piggery Liquid Manure by Malodor Reducing Bacteria (악취 저감용 세균에 의한 돈분뇨의 생물학적 처리)

  • Quan, Xiao-Tian;Shin, Jae-Hyeong;Wang, Yan-Qing;Choi, Min-Gyung;Kim, Sang-Min;Kim, Soo-Ki
    • Journal of Life Science
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    • v.32 no.12
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    • pp.971-978
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    • 2022
  • Sulfur-oxidizing, ammonium-oxidizing, and nitrogen-oxidizing media were used to isolate bacteria to degrade malodor gas effectively in piggery manure or soil. Twelve different strains were isolated: Paenibacillus amylolyticus, Rhodococcus jostii, Rhodococcus qingshengii, Rhodococcus opacus, Alcaligenes faecalis, Alcaligenes faecalis, Kastia adipate, Kastia adipata, Microbacterium oxydans, Halomonas campisalis, Acinetobacter oleivorans, and Micrococcus luteus. By inoculating each strain in the piggery liquid manure by 1%, the pH in most strain treatments was maintained at 8.0. Total bacterial counts were maintained at 7.3~7.9 log CFU/ml until 15 days, and then they dropped dramatically down to 5.1~5.5 log CFU/ml. On the 30th day, the treatment group inoculated with Rhodococcus opacus SK2659 showed a relatively high level of ammonium nitrogen removal, which was 39% of that of the control group. When Rhodococcus opacus SK2659 was inoculated, H2S concentration after 100 days was 3.23% compared with the control (no inoculation), suggesting that Rhodococcus opacus SK2659 is an excellent strain for removing malodor gas. The gas production of the treatments was lower than that of the control. The total accumulated amount of gas production in most strain treatments was a quarter of the gas production compared to the control throughout the experimental periods. Acinetobacter oleivorans SK2675 showed the lowest level at 12.39% compared to the control in gas production. In conclusion, the use of mixture strains, such as Rhodococcus opacus SK2659 and Acinetobacter oleivorans SK2675 isolated in this study could increase the efficacy of malodor gas reduction in the biological treatment of piggery manure.

Geometry and Kinematics of the Northern Part of Yeongdeok Fault (영덕단층 북부의 기하와 운동학적 특성)

  • Gwangyeon Kim;Sangmin Ha;Seongjun Lee;Boseong Lim;Min-Cheol Kim;Moon Son
    • Korean Journal of Mineralogy and Petrology
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    • v.36 no.1
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    • pp.55-72
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    • 2023
  • This study aims to identify the fault zone architecture and geometric and kinematic characteristics of the Yeongdeok Fault, based on the geometry and kinematic data of various structural elements obtained by detailed field survey and anisotropy of magnetic susceptibility (AMS) of the fault rocks. The Yeongdeok Fault extends from Opo-ri, Ganggu-myeon, Yeongdeok-gun to Gilgok-ri, Maehwa-myeon and Bangyul-ri, Giseong-myeon, Uljin-gun, and cuts various rock types from the Paleo-proterozoic to the Mesozoic with a range of 4.6-5.0 km (4.77 km in average) of right-lateral offset or forms the rock boundaries. The fault is divided into four segments based on its geometric features and shows N-S to NNW strikes and dips of an angle of ≥ 54° to the east at most outcrops, even though the outcrops showing the westward dipping (a range of 54°-82°) of fault surface increase as it goes north. The Yeongdeok Fault shows the difference in the fault zone architecture and in the fault core width ranging from 0.3 to 15 m depending on the bedrock type, which is interpreted as due to differences in the physical properties of bedrock such as ductility, mineral composition, particle size, and anisotropy. Combining the results of paleostress reconstruction and AMS in this and previous studies, the Yeongdeok Fault experienced (1) sinistral strike-slip under NW-SE maximum horizontal principle stress (σHmax) and NE-SW minimum horizontal principle stress (σHmin) in the late Cretaceous to early Cenozoic, and then (2) dextral strike-slip under NE-SW maximum horizontal principle stress (σHmax) and NW-SE minimum horizontal principle stress (σHmin) in the Paleogene. It is interpreted that the deformation caused by the Paleogene dextral strike-slip movement was the most dominant, and the crustal deformation was insignificant thereafter.