• Title/Summary/Keyword: identification rate

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Kabuki syndrome: clinical and molecular characteristics

  • Cheon, Chong-Kun;Ko, Jung Min
    • Clinical and Experimental Pediatrics
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    • v.58 no.9
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    • pp.317-324
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    • 2015
  • Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. Whole exome sequencing has uncovered the genetic basis of KS. Prior to 2013, there was no molecular genetic information about KS in Korean patients. More recently, direct Sanger sequencing and exome sequencing revealed KMT2D variants in 11 Korean patients and a KDM6A variant in one Korean patient. The high detection rate of KMT2D and KDM6A mutations (92.3%) is expected owing to the strict criteria used to establish a clinical diagnosis. Increased awareness and understanding of KS among clinicians is important for diagnosis and management of KS and for primary care of KS patients. Because mutation detection rates rely on the accuracy of the clinical diagnosis and the inclusion or exclusion of atypical cases, recognition of KS will facilitate the identification of novel mutations. A brief review of KS is provided, highlighting the clinical and genetic characteristics of patients with KS.

Polymer Quality Control Using Subspace-based Model Predictive Control with BLUE Filter

  • Song, In-Hyoup;Yoo, Kee-Youn;Rhee, Hyun-Ku
    • 제어로봇시스템학회:학술대회논문집
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    • 2000.10a
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    • pp.357-357
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    • 2000
  • In this study, we consider a multi-input multi-output styrene polymerization reactor system for which the monomer conversion and the weight average molecular weight are controlled by manipulating the jacket inlet temperature and the feed flow rate. The reactor system is identified by using a linear subspace identification method and then the output feedback model predictive controller is constructed on the basis of the identified model. Here we use the Best Linear Unbiased Estimation (BLUE) filter as a stochastic estimator instead of the Kalman filter. The BLUE filter observes the state successfully without any a priori information of initial states. In contrast to the Kalman filter, the BLUE filter eliminates the offset by observing the state of the augmented system regardless of a priori information of the initial state for an integral white noise augmented system. A BLUE filter has a finite impulse response (FIR) structure which utilizes finite measurements and inputs on the most recent time interval [i-N, i] in order to avoid long processing times.

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Identification and Expression Analyses of Equine Endogenous Retroviruses in Horses

  • Gim, Jeong-An;Kim, Heui-Soo
    • Molecules and Cells
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    • v.40 no.10
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    • pp.796-804
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    • 2017
  • Endogenous retroviruses (ERVs) have been integrated into vertebrate genomes and have momentously affected host organisms. Horses (Equus caballus) have been domesticated and selected for elite racing ability over centuries. ERVs played an important role in the evolutionary diversification of the horse genome. In the present study, we identified six equine ERV families (EqERVs-E1, I1, M2, P1, S1, and Y4), their full-length viral open reading frames (ORFs), and elucidated their phylogenetic relationships. The divergence time of EqERV families assuming an evolutionary rate of 0.2%/Myr indicated that EqERV-S3 (75.4 million years ago; mya) on chromosome 10 is an old EqERV family and EqERV-P5 (1.2 Mya) on chromosome 12 is a young member. During the evolutionary diversification of horses, the EqERV-I family diverged 1.7 Mya to 38.7 Mya. Reverse transcription quantitative real-time PCR (RT-qPCR) amplification of EqERV pol genes showed greater expression in the cerebellum of the Jeju horse than the Thoroughbred horse. These results could contribute further dynamic studies for horse genome in relation to EqERV gene function.

Contents of Poncirin and Naringin in Fruit of Poncirus Trifoliata according to Different Harvesting Times and Locations for Two Years (2년 동안 지실의 채취시기 및 지역에 따른 Poncirin과 Naringin의 함량)

  • Lee, Sul-Lim;Seo, Chang-Seob;Kim, Jung-Hoon;Shin, Hyeun-Kyoo
    • Korean Journal of Pharmacognosy
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    • v.42 no.2
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    • pp.138-143
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    • 2011
  • A high performance liquid chromatography (HPLC) method was developed for simultaneous determination of two major flavonoid glycosides (poncirin and nanringin) in Poncirus trifoliata Raf. by different harvesting times and locations for two years. A SunFire $C_{18}$ column (4.6 mm${\times}$250 mm, 5 ${\mu}M$) was used at $40^{\circ}C$ for the determination of poncirin and naringin. The mobile phase using gradient flow consisted of two solvent systems. Solvent A was 1.0% (v/v) aqueous acetic acid and solvent B was acetonitrile with 1.0% (v/v) acetic acid. Flow rate was 1.0 mL/min and injection volume was 10 ${\mu}l$. The chromatogram was monitored by photodiode array (PDA) detection at 280 nm for the identification of two flavonoid glycosides in P. trifoliata. The contents of the two components in P. trifoliata ranged from 0.32~13.02%.

Identification of Productive Mulberry Silkworm Hybrids Resistant to Densonucleosis Virus Type 1 (BmDNV1)

  • Rao, P. Sudhakara;Nataraju B.;Balavenkatasubbaiah M.;Dandin S.B.
    • International Journal of Industrial Entomology and Biomaterials
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    • v.13 no.2
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    • pp.109-112
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    • 2006
  • The use of commercial silkworm hybrids resistant to important silkworm diseases is economical and better option particularly in tropical areas. This necessitated the evolution of productive bivoltine silkworm breeds non-susceptible to $BmDNV_1$. Non-susceptibility to $BmDNV_1$, infection was found to be controlled by a single recessive gene, nsd-l or a dominant gene, Nid-l. A major dominant/recessive gene confers resistance to $BmDNV_1$, from potent donor parents have been transferred to 10 productive but susceptible bivoltine silkworm strains through conventional breeding methods. By utilizing these breeds prepared 25 hybrids $(5{\times}5)$ and hybrid evaluation was carried out to identify most promising hybrids resistant to $BmDNV_1$. All these hybrids are inoculated with $BmDNV_1$ inoculum along with productive control hybrid $CSR2{\times}CSR4$ and reared under standard rearing procedure. Based on inoculated rearing and test reeling results, two most promising hybrids $(CSR18DR{\times}CSR29DR\;and\;CSR21DR{\times}CSR50DR)$ were selected for commercial exploitation. The selected hybrids have shown a survival rate of >85% with productive traits, where as control hybrid have shown 11.1% survival with inferior cocoon traits. The methodologies adopted were discussed.

Identification of boundary migration during the wound healing through the visualization of cell migrations (세포 운동 가시화를 통한 상처 치유 과정 내 경계 이동의 규명)

  • Jeong, Hyuntae;Lee, Jaesung;Shin, Jennifer Hyunjong
    • Journal of the Korean Society of Visualization
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    • v.18 no.2
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    • pp.10-17
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    • 2020
  • The curvature of wound boundaries has been identified as a key modulator that determines a type of force responsible for cell migration. While several studies report how certain curvatures of the boundary correlate with the rate at which the wound closes, it remains unclear how these curvatures are spatiotemporally formed to regulate the healing process. We investigated the dynamic changes in the boundary curvatures by visualizing cell migration patterns. Locally, cells at the convex boundary continuously move forward with transmitting kinetic responses behind to the cells away from the boundary, and cells at the concave boundary exhibit dramatic contracting motion, like a purse-string, when they accumulate enough negative curvatures to gain the thrust toward the void. Globally, the dynamics of boundary geometries are controlled by the diffusive flow of cells driven by the density gradient between the wound area and the cell layer.

Prevalence of intestinal parasites of pet dogs in Taejon city (대전광역시 애완견의 장내기생충 감염실태조사)

  • 오윤희;송운재;이필돈;박배근
    • Korean Journal of Veterinary Service
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    • v.21 no.4
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    • pp.391-400
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    • 1998
  • In order to survey the prevalence of intestinal parasites in dogs, 304 fecal samples were taken from dogs in Taejon city, The prevalence and identification of intestinal parasites were determined by the fecal examinations using sheather's floating technique and sedimentation methods and then Cryptosporidium oocysts were identified by kinyoun's modified acid fast stainning method. The results were obtained as follows ; 1. Parasite eggs and oocysts were detected in 105 samples (34.5%) from 304 cases of dog feces. 2. The 11 kinds of eggs and oocysts were isolated from the feces of dog. Those were Ancylostoma caninum (12.1%, 37 dogs), Trichuris vulpis (11.5%, 35 dogs), Toxocara canis (10.2%, 31 dogs), Isospora sp (7.2%, 22 dogs), Cryptosporidium sp (3.6%, 11 dogs), Toxascaris leonine (1.9%, 6 dogs), Strongyloides sp (1.9%, 6 dogs), Taenia sp (0.6%, 2 dogs), Diphylidium caninum (0.3%, 1 dog), Spirometra sp (0.3%, 1 dog) and Clonorchis sinensis (0.3%, 1 dog). 3. It was mixed infection such as single, double, triple and quadruple, 64.8%, 25.7%, 8.6% and 0.9%, respectively. 4. In indiviually-raised 4095, the infectious late of T canis (11.4%), A Caninum(13.2%), Cryptosporidium sp (6.1%), T leontna (2.6%) were higher than those of group raised dogs. But the infectious rate of T vulpis (12.1%) in group raised dogs was higher than that of individually-raised dogs. 5. Adults of Demodex and Sarcoptes which have been found in this survey are excluded in this report.

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Bioserotype and drug resistance of Salmonella spp isolated from feces in zoo animals (동물원(動物園)의 야생동물(野生動物) 분변(糞便)에서 분리(分離)한 살모넬라균의 생물형(生物型), 혈청형(血淸型) 및 약제내성(藥劑耐性))

  • Youn, En-sun;Park, Seog-gee;Oh, Young-hee;Kim, Tae-jong
    • Korean Journal of Veterinary Research
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    • v.34 no.2
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    • pp.267-273
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    • 1994
  • Feces samples, obtained from zoo animals around Seoul, were examined for the isolation of Salmonella species, bioserotype and drug resistance for the prevention and treatment of salmonellosis, Salmonella spp were isolated 19(4.7%) from 408 samples of zoo animals. The subspecies in 19 Salmonella were all subspecies 1. The serological identification of Salmonella isolated were 31.6% in Sal typhimurium, 26.3% in Sal hadar, 21.1% in Sal muenchen, 15.8% in Sal enteritidis and 5.3% in Sal ayinde. The antibiotic resistance of Salmonella isolated were 13(68.4%) strains. The multiple resistant patterns of antibiotics in Salmonella were 2 drugs- and 3 drugs-resistance 30.8% respectively. The transferred rate of resistance to recipients(E coli ML 1410 $NA^r$) in Salmonella was 38.5%.

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Comparision of Priorities in Health Center Nutrition Service Needs between Provider and Consumer (보건소 영양서비스에 대한 공급자와 소비자의 요구도 분석)

  • 장경희;김영옥
    • Korean Journal of Community Nutrition
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    • v.5 no.3
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    • pp.529-536
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    • 2000
  • The major purpose of this study was to identify the differences in priorities of nutrition service needs between the service provider and consumers (general population). Identification of the personal characteristics which influence the priorities of nutrition service needs among the general population was also examined. An interview survey using a questionnaire was conducted to collect the data required for analysis. The questionnaire included the priorities of various nutrition service needs as well as the personal characteristics of the study subjects. The study subjects were 300 residents over 40 years of age, and 15 health workers representing health center service personnel in Kyounggi province. Wilcoxon Rank Sums test were adopted to analize the differences in priority between the service providers and consumers. The results showed that priority of nutrition service needs for provider were significantly different from that of consumer. Gender, age, family type, and education levels of the population were the significant factors affecting the differences in priorities for nutrition service needs among consumers (general population). Out of the results, it could be suggested that consumers need should be considered in developing nutrition services to promote nutrition services utilization in health centers. The results may also suggest that one of the causes for the low utilization rate of nutrition services in health centers was the provider oriented program development regardless of the needs of consumers.

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Modeling and Characteristic Analysis of HEV Li-ion Battery Using Recursive Least Square Estimation (최소 자승법을 이용한 하이브리드용 리튬이온 배터리 모델링 및 특성분석)

  • Kim, Ho-Gi;Heo, Sang-Jin;Kang, Gu-Bae
    • Transactions of the Korean Society of Automotive Engineers
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    • v.17 no.1
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    • pp.130-136
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    • 2009
  • A lumped parameter model of Li-ion battery in hybrid electric vehicle(HEV) is constructed and system parameters are identified by using recursive least square estimation for different C-rates, SOCs and temperatures. The system characteristics of pole and zero in frequency domain are analyzed with the parameters obtained from different conditions. The parameterized model of Li-ion battery indicates highly dependant of temperatures. The system pole and internal resistance changes 6.6 and 18 times at $-20^{\circ}C$, comparing with those at $25^{\circ}C$, respectively. These results will be utilized on constructing model-based state observer or an on-line identification and an adaptation of the model parameters in battery management systems for hybrid electric vehicle applications.