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Novel SLC5A2 Mutations and Genetic Characterization in Korean Patients with Familial Renal Glucosuria

  • Lee, Weon Kyung;Oh, Seung Hwan;Chung, Woo Yeong
    • Childhood Kidney Diseases
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    • v.22 no.2
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    • pp.37-41
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    • 2018
  • Purpose: Familial renal glucosuria (FRG, OMIM #233100) is a rare but relatively benign genetic condition characterized by persistent isolated glucosuria with a normal blood glucose level. We report three additional SLC5A2 mutations and examine their phenotypic and genetic characteristics in a Korean FRG cohort. We also reviewed the literature and summarized the genotypes of all Korean patients with FRG. Methods: A genetic analysis was conducted by directly sequencing all 14 exons of the SLC5A2 gene and their flanking regions in six unrelated Korean children with FRG and their family members. Novel non-synonymous single-nucleotide polymorphisms were identified and compared with known mutations that are repeatedly detected in the Korean population. Results: We found two novel mutations [c.274G>A (G92S) and c.1168C>T (L390F)] and one known [c.1382G>A (S461N)] mutation in each family and one recurrent mutation [c.1346G>A (G449D) (rs768392222)] in two pedigrees. The recurrent G449D was predicted to be "possibly damaging," with a score of 0.883 in Polyphen-2, while G92S, L390F, and S461N were predicted to be "probably damaging," with scores of 1.000, 0.999, and 0.996, respectively. Conclusions: Two novel, one previously reported, and one recurrent mutation were identified in six Korean FRG pedigrees as causative mutations of renal glucosuria. Sequence variations in the SLC5A2 gene were frequently detected in children with persistent isolated glucosuria. A long-term follow-up of this FRG cohort is needed to understand how these specific SGLT2 mutations impair kidney function and energy homeostasis.

PIGEON PEA AS A RUMINANT FEED

  • Cheva-Isarakul, B.
    • Asian-Australasian Journal of Animal Sciences
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    • v.5 no.3
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    • pp.549-558
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    • 1992
  • The study on the potential use of pigeon pea (PP) as a ruminant feed was carried out with sheep in 3 experiments. Digestibility of dry pigeon pea leaves (PPL) and pigeon pea seeds (PPS) determined by differential and regression methods respectively, with rice straw (RS) as a basal diet, revealed that PPS contained higher nutritive value and palatability than PPL. On dry matter (DM) basis, PPL and PPS contained 19.8 and 20.0% CP, 7.3 and 2.3% EE, 6.0 and 4.4% ash, 61.1 and 51.7% NDF, and 29.4 and 17.5% ADF, respectively. The trypsin inhibitor activity in the seed was 3 times of that in the leaves (19.5 vs 7.0 mg TIA/g DM). The digestibility of PPL and PPS were 50.2 and 72.2% in DM, 52.7 and 73.3% in OM, 51.0 and 65.1% in CP respectively. DM intake as well as the digestibility of most nutrients increased with the increasing level of PPS. Digestible energy (DE), Total digestible nutrient (TDN) and N-balance of sheep fed solely PPS, estimated by regression method, was 3.2 kcal/g, 71.1% and 6.3 g/d respectively. Pigeon pea seeds can be well used to substitute soybean meal in concentrate rations for ruminants or directly supplemented to low quality roughages.

The Relationship between the Amisulpride-Induced Hyperprolactinemia and Taq1A Polymorphism of the Dopamine D2 Receptor Gene in Schizophrenia Patients (조현병 환자에서 아미설프라이드에 의한 고프로락틴혈증과 DRD2 유전자 Taq1A 다형성의 연관성)

  • Kim, Jae Jun;Seo, Min Jae;Choi, Tae Young;Lee, Jong Hun
    • Korean Journal of Biological Psychiatry
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    • v.24 no.1
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    • pp.32-38
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    • 2017
  • Objectives This study was aimed to investigate the association between amisulpride-induced hyperprolactinemia and the Taq1A polymorphism in the D2 dopamine receptor gene (DRD2) in schizophrenic patients. Methods The plasma concentrations of prolactin were measured before and after treatment with amisulpride in one hundred and twenty-five schizophrenic patients. The effect of the Taq1A variants of the DRD2 on the risk of amisulpride-induced hyperprolactinemia was the main the outcome measure. The genotyping for Taq1A (rs1800497) polymorphism was performed using TaqMan single nucleotide polymorphism (SNP) genotyping assay. Results There was a significant difference between the prolactin level at baseline and the 6th week after treatment with amisulpride in all the subjects. However, there were no significant correlations between ΔProlactin (the difference between prolactin level at baseline and the 6th week after treatment) and the Taq1A genotypes. Conclusions This is the first study to investigate the-correlations between the Taq1A polymorphism and the amisulpride-induced hyperprolactinemia in Korean schizophrenic patients. The current results suggested the further large-scale researches on various SNPs in the DRD2 gene will establish clear goals and provide answers to the unanswered questions described in this study.

Effect of fiber glass on the physical properties of denture base resins (화이버 글라스가 의치상 레진의 기계적 특성에 미치는 영향)

  • Park, Yeon-Kyung
    • Journal of Technologic Dentistry
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    • v.35 no.2
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    • pp.97-103
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    • 2013
  • Purpose: The purpose of this study was to investigate the effect of addition of fiber glass on the physical properties of silanized fiber mesh and non silanized mesh of denture base resins. Methods: The denture base resins were used in this study heat curing acrylic resins(Vertex Rs, Lucitone 199, $20{\times}80mm$) and fiber glass(SES, Green B&D co., Ltd, $20{\times}80mm$) were used as reinforcement. The specimens were stored in distilled water at $37{\pm}2^{\circ}C$ for 72 hours before test. Bending strength and tensile strength were measured by an universal testing machine(Instron 4301, Instron Corp.). Penetration distribution on fiber was observed by scanning electron microscopy(JSM 840A, Jeol Ltd). Results: The bending strength and modulus were increased by 30% after adding fiber glass on denture base resins. Tensile strength showed significant increasing by adding fiber glass on denture base resins. Conclusion: In this study, Addition of silanized fiber in denture base resins were improved physical properties. we confirmed the fiber glass possibility of the replacement about conventional materials.

Analysis of Landslide Hazard Area using Logistic Regression Analysis and AHP (Analytical Hierarchy Process) Approach (로지스틱 회귀분석 및 AHP 기법을 이용한 산사태 위험지역 분석)

  • Lee, Yong-jun;Park, Geun-Ae;Kim, Seong-Joon
    • KSCE Journal of Civil and Environmental Engineering Research
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    • v.26 no.5D
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    • pp.861-867
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    • 2006
  • The objective of this study is to analyze the landslide hazard areas by combining LRA (Lgistic Regression Analysis) and AHP (Analytic Hierarchy Program) methods with Remote Sensing and GIS data in Anseong-si. In order to classify landslide hazard areas of seven levels, six topographic factors (slope, aspect, elevation, soil drain, soil depth, and land use) were used as input factors of LRA and AHP methods. As results, high-risk areas for landslide (1 and 2 levels) by LRA and AHP of its own were classified as 46.1% and 48.7%, respectively. A new method by applying weighting factors to the results of LRA and AHP was suggested. High-risk areas for landslide (1 and 2 levels) form the new method was classified as 58.9%.

Growth Regulation of Korean Lawngrass and Manilagrass with Several Growth Retardants (잔디류식물에 있어 생장억제제시용효과에 관한 연구)

  • 심재성
    • Asian Journal of Turfgrass Science
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    • v.3 no.1
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    • pp.39-52
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    • 1989
  • Native Kerean lawngrass (Zeysia japonica steud.) and Manilagrass ( Zeysia matrella Merr.) are frequently used as sport turf and lawn in Kerea and ether Asian countries because of its excellent summer qualities and superior winter-hardiness compared to ether warm-season turfgrass . The objective of this study was to investigate the effect of the plant growth retardants ( PGR ) en the inhibition (d the growth of the two Kerean native turfgrasses. Kerean lawngrass and Manilagrass were treated with [2 RS , 3 RS] -1- [4- chlorophenyl ] -4, 4-dimethyl -2- [1 H -1, 2, 4- tiazol -1- y] pentan -3- ol ( PP -333) at 93 and 930 gha -j ; 5-[4- chlorphenyl ]-3, 4, 5, 9, 10- peiitaaza - tetracyclo [5, 4, 1, 0 2 6 . o ~'~I -3, 9- diene ( BAS -106) at 16 and 160 gha ; [ E I-] - cyclohexyl -4, 4- dimethyl -2- [1, 2, 4- triazol -1- yl ]-1-pentene - 3- ol ( NTN -821) at 56 and 560 gha ', and 4- chloro -2- [$\alpha$- hydrozybenzy I isonicotin anilide ( CGR -811) at 92 gha in pot study . All PGR treatments were effective in reducing the plant height, with the exception of BAS -106 at 16 gha for Korean lawngrass ; however , all increased quality to some degree , with the exception of PP -333 at 93 gha . The low PGR rates significantly increased Korean lawngrass height during late jtily aitd mid-August . On the other hand , BAS -106 significantly increased Manilagrass height {rom 24 Septeml)er onwards . All PGR treatments haol higher turfgrass quality than untreatments , and also the high rates of PGIt treatments were more effective in increasing quality than the low rates observed on 8 October . Meanwhile , Manilagrass quality was increased to some extent than Korean lawegrass . PP - 333 was significantly effective in reducing clipping yield and the same results were found with the application of NTN -821 at 560 gha -l for both Korean lawngrass and Manilagrass , BAS -106 at 160 gha for Korean lawegrass , and CGR -811 at 92 gha for Manilagrass . The high PGR rates had higher turfgrass shoot weight observed on 8 October than the low rates , and there were little increases obtained with the low rates of PP -333 for Korean lawngrass and BAS - 1 06 for Manilagrass . Effeets on stolon growth varied between growth retardants , and between retardant treatments ; the high rates of PGR as well as the low rate of NTN -821 elongated stolon of Korean lawngrass and manoilagrass . However , PP -333 at 93 gha and BAS -106 at 16 gha - shortened stolons of Korean lawugrass , resulting in inhibition or little difference of stolon dry weight . NTN -821 at 560 gha and CGR -811 had no positive effect on the stolon length of Manilagrass . 101) -333 and the low rate of BAS -106 and NTN -821 decreased root weight of Korean lawng - rass All PGR rates had negative effect on the root weight of Manilagrass with the exception of BAS -106 CR -811 and the high rate of NTN -821 which made no difference in root weight between retarolant treatments and the control .

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Step-size Normalization of Information Theoretic Learning Methods based on Random Symbols (랜덤 심볼에 기반한 정보이론적 학습법의 스텝 사이즈 정규화)

  • Kim, Namyong
    • Journal of Internet Computing and Services
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    • v.21 no.2
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    • pp.49-55
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    • 2020
  • Information theoretic learning (ITL) methods based on random symbols (RS) use a set of random symbols generated according to a target distribution and are designed nonparametrically to minimize the cost function of the Euclidian distance between the target distribution and the input distribution. One drawback of the learning method is that it can not utilize the input power statistics by employing a constant stepsize for updating the algorithm. In this paper, it is revealed that firstly, information potential input (IPI) plays a role of input in the cost function-derivative related with information potential output (IPO) and secondly, input itself does in the derivative related with information potential error (IPE). Based on these observations, it is proposed to normalize the step-size with the statistically varying power of the two different inputs, IPI and input itself. The proposed algorithm in an communication environment of impulsive noise and multipath fading shows that the performance of mean squared error (MSE) is lower by 4dB, and convergence speed is 2 times faster than the conventional methods without step-size normalization.

Motion and Image Matching Algorithms and Implementation for Motion Synchronization in a Vehicle Driving Simulator (차량 운전 시뮬레이터에서 모션과 영상의 동기화를 위한 알고리즘 및 구현 방안)

  • Kim, Hun-Se;Kim, Dae-Seop;Kim, Dong Hwan
    • The Journal of Korea Robotics Society
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    • v.12 no.2
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    • pp.184-193
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    • 2017
  • This work shows how to create an algorithm and implementation for motion and image matching between a vehicle simulator and Unity 3D based virtual object. The motion information of the virtual vehicle is transmitted to the real simulator via a RS232 communication protocol, and the motion is controlled based on the inverse kinematics solution of the platform adopting rotary-type six actuators driving system. Wash-out filters to implement the effective motion of the motion platform are adopted, and thereby reduce the dizziness and increase the realistic sense of motion. Furthermore, the simulator system is successfully designed aiming to reducing size and cost with adaptation of rotary-type six actuators, real driving environment via VR (Virtual Reality), and control schemes which employ a synchronization between 6 motors and 3rd order motion profiles. By providing relatively big sense of motion particularly in impact and straight motions mainly causing simulator sickness, dizziness is remarkably reduced, thereby enhancing the sense of realistic motion.

실수계의 공리를 이용한 지수 ar의 학습과 지도

  • Lee, Byung-Soo
    • East Asian mathematical journal
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    • v.28 no.2
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    • pp.159-172
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    • 2012
  • In all Mathematics I Textbooks(Kim, S. H., 2010; Kim, H. K., 2010; Yang, S. K., 2010; Woo, M. H., 2010; Woo, J. H., 2010; You, H. C., 2010; Youn, J. H., 2010; Lee, K. S., 2010; Lee, D. W., 2010; Lee, M. K., 2010; Lee, J. Y., 2010; Jung, S. K., 2010; Choi, Y. J., 2010; Huang, S. K., 2010; Huang, S. W., 2010) in high schools in Korea these days, it is written and taught that for a positive real number $a$, $a^{\frac{m}{n}}$ is defined as $a^{\frac{m}{n}}={^n}\sqrt{a^m}$, where $m{\in}\mathbb{Z}$ and $n{\in}\mathbb{N}$ have common prime factors. For that situation, the author shows his opinion that the definition is not well-defined and $a^{\frac{m}{n}}$ must be defined as $a^{\frac{m}{n}}=({^n}\sqrt{a})^m$, whenever $^n\sqrt{a}$ is defined, based on the field axiom of the real number system including rational number system and natural number system. And he shows that the following laws of exponents for reals: $$\{a^{r+s}=a^r{\cdot}a^s\\(a^r)^s=a^{rs}\\(ab)^r=a^rb^r$$ for $a$, $b$>0 and $s{\in}\mathbb{R}$ hold by the completeness axiom of the real number system and the laws of exponents for natural numbers, integers, rational numbers and real numbers are logically equivalent.

Development of a Device for Estimating the Optimal Artificial Insemination Time of Individually Stalled Sows Using Direct-reflex Photo-sensors (직접반사형 포토센서를 이용한 스톨 사육 모돈의 인공수정적기 예측 장치 개발)

  • Kim D. J.;Yeon S. C.;Chang H. H.
    • Journal of Biosystems Engineering
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    • v.29 no.6 s.107
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    • pp.515-520
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    • 2004
  • A device far estimating the optimal artificial insemination time consisted of a computer, RS module, and six direct-reflex photo-sensors. Program was written in LabWindows CVI. In order to establish references for estimating optimal artificial insemination time, lying rate of the thirty three $Berkshire{\times}Hampshire crossbred sows (parity 5 to 6) was recorded from 2 days after moving into stalls to artificial insemination using a time lapse VCR and was measured every hour with one minute interval using the scan point sampling method. Twenty low hours in a day were divided into three comparing periods : 21:00 to 06:59, 07:00 to 13:59, and 14:00 to 20:59. If sum of the percentages of tying during a comparing period was less than the reference value, the starting hour of the comparing period was considered as onset of estrus and the optimal artificial insemination time was estimated at 20 to 24 hours after onset of estrus. The experimental device was evaluated with twenty five $Berkshire{\times}Hampshire$ crossbred sows (parity 2 to 7) and 23 of 25 sows $(92\%)$ were pregnant. This result suggests that the experimental device is excellent in performance for estimating optimal artificial insemination time.