• Title/Summary/Keyword: E. Wilson

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A case of Mowat-Wilson syndrome with developmental delays and Hirschsprung's disease

  • Lee, Darae;Kim, Ja Hye;Cho, Ja Hyang;Oh, Moon-Yun;Lee, Beom Hee;Kim, Gu-Hwan;Choi, Jin-Ho;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.11 no.2
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    • pp.79-82
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    • 2014
  • Mowat-Wilson syndrome is an extremely rare genetic disease that is characterized by intellectual disability, facial dysmorphism, Hirschsprung's disease, and other congenital anomalies. This disorder is caused by heterozygous mutations or deletions in the zinc finger E-box-binding homeobox-2 gene (ZEB2). Thus far, approximately 200 cases of Mowat-Wilson syndrome have been reported worldwide. In Korea, only one case with a 2q22 deletion, which also affects ZEB2, has been previously reported. Here, we describe a patient with Mowat-Wilson syndrome who presented with developmental delays, typical facial dysmorphism, and Hirschsprung's disease. Molecular analysis of ZEB2 identified a novel heterozygous mutation at c.190dup ($p.S64Kfs^*6$). To our knowledge, this is the second report of a Korean patient with Mowat-Wilson syndrome that has been confirmed genetically.

Periventricular nodular heterotopia in a child with a mild Mowat-Wilson phenotype caused by a novel missense mutation of ZEB2

  • Kim, Young Ok;Lee, Yun Young;Kim, Myeong-Kyu;Woo, Young Jong
    • Journal of Genetic Medicine
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    • v.16 no.2
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    • pp.71-75
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    • 2019
  • Periventricular nodular heterotopia (PNH) is a malformation of cortical development in which normal neurons inappropriately cluster in periventricular areas. Patients with Mowat-Wilson syndrome (MWS) typically present with facial gestalt, complex neurologic problems (e.g., severe developmental delay with marked speech impairment and epilepsy), and multiple anomalies (e.g., Hirschsprung disease, urogenital anomalies, congenital heart defects, eye anomalies, and agenesis of the corpus callosum [CC]). MWS is mostly caused by haploinsufficiency of the gene encoding zinc-finger E-box-binding homeobox 2 (ZEB2) due to premature stops or large deletions. We present a case report of a 9-year-old girl with PNH, drug-responsive epilepsy, severe intellectual disability, and facial dysmorphisms only in whom we performed whole-exome sequencing and found a de novo heterozygous missense mutation (c.3134A>C; p.His1045Pro) of ZEB2 (NM_014795.3; NP_055610.1). This mild case of MWS caused by a rare novel missense mutation of ZEB2 represents the first report of MWS with isolated PNH.

Excess Molar Enthalpies and Excess Molar Volumes for the Binary Mixtures {1,2-dichloropropane+2-(2-methoxyethoxy)ethanol, and +2-(2-ethoxyethoxy)ethanol} at 298.15 K (2성분계 {1,2-dichloropropane+2-(2-methoxyethoxy)ethanol 및 + 2-(2-ethoxyethoxy)ethanol}에 대한 298.15 K에서의 과잉몰엔탈피 및 과잉몰부피)

  • Kim, Jaewon;Kim, Moongab
    • Korean Chemical Engineering Research
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    • v.44 no.5
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    • pp.444-452
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    • 2006
  • This paper reports experimental excess molar volumes $V^E_m$ using a digital vibrating-tube densimeter and excess molar enthalpies $H^E_m$ by means of an isothermal microcalorimeter with a flow mixing cell for the binary mixtures{1,2-dichloropropane + 2-(2-methoxyethoxy)ethanol} and {1,2-dichloropropane + 2-(2-ethoxyethoxy)ethanol} at 298.15 K under atmospheric pressure. All the $V^E_m$ and $H^E_m$ of the two binary mixtures showed S-shaped forms, being negative for poor and positive for rich 1,2-dichloropropane mole fractions. These show that the excess properties were shown to be negative deviation from ideality due to the strong self-association effect among 2-(2-alkoxyethoxy)ethanol molecules at an early stage of mixing, a relatively high energy then is needed to break hydrogen bonds of 2-(2-alkoxyethoxy)ethanol with an increase ofhalogenated hydrocarbon molecular at high mole fraction of 1,2-dichloropropane. The values of excess molar properties($V^E_m$ and $H^E_m$) were fitted by the Redlich-Kister equation using Nelder-Mead's simplex pattern search method. The Wilson, NRTL, and UNIQUAC models were used to correlate the $H^E_m$ values.

Dew Point Prediction by Lower Flash Points of Binary Mixtures (이성분계 혼합물의 하부 인화점에 의한 이슬점 예측)

  • Ha, Dong-Myeong;Lee, Sungjin
    • Journal of the Korean Society of Safety
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    • v.32 no.6
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    • pp.34-39
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    • 2017
  • Vapor-liquid equilibrium calculation is required to properly design and operation of distillation process. The general calculation method is to use binary interaction parameter. Lower flash points of cyclohexanol+aniline and cyclohexanol+cyclohexanone were measured by using Seta-flash closed cup apparatus. The measured flash points were compared with those calculated by the method based on Raoult's law and the optimization method using Wilson equation. The absolute average errors(A.A.E.) of the results calculated by Raout's law are $0.25^{\circ}C$ and $1.07^{\circ}C$ for cyclohexanol+aniline and cyclohexanol+cyclohexanone, respectively. The absolute average errors of the results calculated by the optimization method are $0.22^{\circ}C$ and $0.65^{\circ}C$ for cyclohexanol+aniline and cyclohexanol+cyclohexanone, respectively. As can be seen from A.A.E., the calculated values based on the optimization method were found to be better than those based on the Raoult's law. The binary interaction parameters calculated by the optimization method are used to predict the dew points of cyclohexanol+aniline and cyclohexanol+cyclohexanone. The A.A.E. for these mixtures show that there is an acceptable agreement between experimental and calculated dew poins.

The Measurement of Flash Point of Water-Methanol and Water-Ethanol Systems Using Seta Flash Closed Cup Tester (Seta Flash 밀폐식 장치를 이용한 Water-Methanol과 Water-Ethanol계의 인화점 측정)

  • Ha, Dong-Myeong;Park, Sang Hun;Lee, Sungjin
    • Fire Science and Engineering
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    • v.29 no.2
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    • pp.39-43
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    • 2015
  • The flash point is the major property to characterize fire and explosion hazard of liquid mixtures. The flash point is the lowest temperature at which a liquid gives off enough vapor to form a flammable air-vapor mixture. The flash points of two aqueous mixtures, water-methanol and water-ethanol, were measured using Seta flash closed cup tester. A prediction method based on activity coefficient models, Wilson and UNIQUAC equations, was used to calculate the flash point. The calculated flash points were compared to the results by the calculating method using Raoult's law. The calculated values based on activity coefficients models were found to be better than those based on the Raoult's law.

Fusion Approach to Targeted Opinion Detection in Blogosphere (블로고스피어에서 주제에 관한 의견을 찾는 융합적 의견탐지방법)

  • Yang, Kiduk
    • Journal of Korean Library and Information Science Society
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    • v.46 no.1
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    • pp.321-344
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    • 2015
  • This paper presents a fusion approach to sentiment detection that combines multiple sources of evidence to retrieve blogs that contain opinions on a specific topic. Our approach to finding opinionated blogs on topic consists of first applying traditional information retrieval methods to retrieve blogs on a given topic and then boosting the ranks of opinionated blogs based on the opinion scores computed by multiple sentiment detection methods. Our sentiment detection strategy, whose central idea is to rely on a variety of complementary evidences rather than trying to optimize the utilization of a single source of evidence, includes High Frequency module, which identifies opinions based on the frequency of opinion terms (i.e., terms that occur frequently in opinionated documents), Low Frequency module, which makes use of uncommon/rare terms (e.g., "sooo good") that express strong sentiments, IU Module, which leverages n-grams with IU (I and you) anchor terms (e.g., I believe, You will love), Wilson's lexicon module, which uses a collection-independent opinion lexicon constructed from Wilson's subjectivity terms, and Opinion Acronym module, which utilizes a small set of opinion acronyms (e.g., imho). The results of our study show that combining multiple sources of opinion evidence is an effective method for improving opinion detection performance.

Isobaric vapor-liquid equilibria for ternary and each corresponding binaries of the system n.Dodecane-1.Decanol-1.Dodecanol at 15 mbar (n.Dodecane-1.Decanol-1.Dodecanol 삼성분계 및 각 이성분계의 15 mbar 정합 기액평형)

  • 박소진;이태종
    • Journal of Energy Engineering
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    • v.2 no.3
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    • pp.308-314
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    • 1993
  • Both Vapor-liquid equilibrium data and boiling temperature have been measured for ternary and each corresponding binaries of n.dodecane-1.decanol-1.dodecanol mixture under constant pressure of 15 mbar. Measured vapor-liquid equilibrium data were correlated with the conventional g$\^$E/ model ; Margules, van Laar, Wilson, NRTL and UNIQUAC equations. Binary equilibrium data were thermodynamically tested by Redlich-Kister integral method and ternary data were also qualitatively checked by two point consistency test, suggested by McDermott-Ellis. Among the binary VLE data, only the system n.dodecane-1.decanol has minimum boiling azeotrope.

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Isothermal vapor-liquid equilibria of n-Dodecane-1-Decanol, n-Dodecane-1 -Dodecanol and 1-Decanol-1-Dodecanol systems by Head Space Analysis (Head Space Analysis에 의한 n-Dodecane-1-Decanol, n-Dodecane-1- Dodecanol과 1-Decanol-1-Dodecanol계의 등온 기액 평형)

  • Park, So-Jin;Kang, Yong;Lee, Tae-Jong;Choi, Myoung-Jai;Lee, Kyu-Wan
    • Journal of Energy Engineering
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    • v.2 no.2
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    • pp.225-230
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    • 1993
  • Isothermal vapor-liquid equilibrium data have been measured for binary systems n-dodecane-1-defanol, n-doderane-1-dodecanol, and 1-decanoi-1-dodecanol at 140$^{\circ}C$ by using head space gas chromatography (H.S.G.C) as a static method. The activity coefficients, calculated taking into acount the nonideality of the liquid phase, were correlated with the conventional g$\^$E/ model, Margules, van Laar, Wilson, NRTL equations. These equilibrium data were thermodynamically consistent by Rrdlich- kister test, among these data, system n-dodecane-1-detanoi has minimum azeotrope.

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A taxonomic study on Lachnidae(Homoptera, Aphidoidea) of Korea (한국산 왕진딧물과(매미목, 진딧물상과)의 분류)

  • 이원구;서홍렬;황창연
    • Animal Systematics, Evolution and Diversity
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    • v.10 no.2
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    • pp.157-187
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    • 1994
  • This study includes the taxonomy , and a key to species of aphids in the family Lachnidae from Korea. Specimens examined in this study were collected from 24 kinds of plants. Samplings were accomplished at 95 localities in Korea from March, 1987 to August, 1994. A list of Korean lachnids are as follows. *1. Chinara atlantica (Wilson, 1919), *.2. C. cembrae(Seitner, 1936), *3. C. formosana (Takahashi, 1924), *4. C. fresai Blanchard, 1939, *5. C. idahoensis Knowlton,1935, 6. c. juniperi (de Geer, 1773), 7.C.kochi Inouye,1939, *8. C. laridicola (Matsumura, 1917), *9. C. laricis (Hartig, 2839), *10. C.longipennis (Matasumura, 1917), 11. C. orientalis (Takahashi, 1925), *12. C. pinidensiflorae(Essig & Kuwana, 1918), *13. C. piniformosana(Takahashi, 1923), *14 C. shinjii Inouye, 1938, *15. c. tujafilina (Del Guercio, 1909), *16 . c. watanabei Inouye, 1970, *17. C. togyuensis Seo. 1994. *18. C. deodarae Seo. 1994, *19. Eulachnus agilis (Kaltenbach, 1843), *20. E. pumilae Inouye, 1939, *21. E. thunbergi (Wilson, 1919), *22. Schizolachnus orientalis (Takahashi, 1924) , 23. Lachnus, Chosoni Szelegiewicz, 1975, 24. L. japonicus (Matsumura, 1917) , *.25. L. tropicalis 9van der Goot, 1916), *.26. Maculolachnus sumbacula (Walker, 1848), *27. M. paiki Seo. 1994, *28 Nipppolachnus piri Matsumura, 1917, 29. Stomaphis asiphon Szelegiewica, 1975, *30. S. japonica Takahashi, 1960, *31. S. yanonis Takahashi , 1918 , *32. Tuberolachnus salignus *(Gmelin, 1790). Of them , 27 species preceded by an asterisk were observed in this study, and keys to these 27 Korean lachnids are provided . The relationship between Korean lachnids and their host plants, and geogrpahical distribution are discussed.

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