• Title/Summary/Keyword: variant

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Role of MYH Polymorphisms in Sporadic Colorectal Cancer in China: A Case-control, Population-based Study

  • Yang, Liu;Huang, Xin-En;Xu, Lin;Zhou, Jian-Nong;Yu, Dong-Sheng;Zhou, Xin;Li, Dong-Zheng;Guan, Xin
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.11
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    • pp.6403-6409
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    • 2013
  • Purpose: Biallelic germline variants of the 8-hydroxyguanine (8-OG) repair gene MYH have been associated with colorectal neoplasms that display somatic $G:C{\rightarrow}T:A$ transversions. However, the effect of single germline variants has not been widely studied, prompting the present investigation of monoallelic MYH variants and susceptibility to sporadic colorectal cancer (CRC) in a Chinese population. Patients and Methods: Between January 2006 and December 2012, 400 cases of sporadic CRC and 600 age- and sex-matched normal blood donors were screened randomly for 7 potentially pathogenic germline MYH exons using genetic testing technology. Variants of heterozygosity at the MYH locus were assessed in both sporadic cancer patients and healthy controls. Univariate and multivariate analyses were performed to determine risk factors for cancer onset. Results: Five monoallelic single nucleotide polymorphisms (SNPs) were identified in the 7 exon regions of MYH, which were detected in 75 (18.75%) of 400 CRC patients as well as 42 (7%) of 600 normal controls. The region of exon 1 proved to be a linked polymorphic region for the first time, a triple linked variant including exon 1-316 $G{\rightarrow}A$, exon 1-292 $G{\rightarrow}A$ and intron 1+11 $C{\rightarrow}T$, being identified in 13 CRC patients and 2 normal blood donors. A variant of base replacement, intron 10-2 $A{\rightarrow}G$, was identified in the exon 10 region in 21 cases and 7 controls, while a similar type of variant in the exon 13 region, intron 13+12 $C{\rightarrow}T$, was identified in 8 cases and 6 controls. Not the only but a newly missense variant in the present study, p. V463E (Exon 14+74 $T{\rightarrow}A$), was identified in exon 14 in 6 patients and 1 normal control. In exon 16, nt. 1678-80 del GTT with loss of heterozygosity (LOH) was identified in 27 CRC cases and 26 controls. There was no Y165C in exon 7 or G382D in exon 14, the hot-spot variants which have been reported most frequently in Caucasian studies. After univariate analysis and multivariate analysis, the linked variant in exon 1 region (p=0.002), intron 10-2 $A{\rightarrow}G$ (p=0.004) and p. V463E (p=0.036) in the MYH gene were selected as 3 independent risk factors for CRC. Conclusions: According to these results, the linked variant in Exon 1 region, Intron 10-2 $A{\rightarrow}G$ of base replacement and p. V463E of missense variant, the 3 heterozygosity variants of MYH gene in a Chinese population, may relate to the susceptibility to sporadic CRC. Lack of the hot-spot variants of Caucasians in the present study may due to the ethnic difference in MYH gene.

Signal transient simulation of multi-coupledm frequency-variant transmission lines (주파수 종속 다중 전송선의 신호 천이 특성)

  • Cho, Young-Il;Eo, Yung-Seon
    • Journal of the Institute of Electronics Engineers of Korea SD
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    • v.43 no.12 s.354
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    • pp.89-101
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    • 2006
  • Frequency-variant transmission line parameters are determined. Then the signal transient characterizations of frequency-dependent multi-coupled lines are investigated. With the proposed method, an accurate signal integrity degradation such as signal ringing (overshoot, undershoot) and crosstalk noises relevant to the switching patterns of signals, rising / falling time(tr, tf) and line lengths is investigated. It is shown that there may be approximately 26% discrepancy of signal transients and 260% difference of crosstalk noises between the constant RLC model and frequency-variant RLC model in on-chip global interconnects while those of package lines are 11% and 70%, respectively.

Warthin-Like Tumor of Thyroid Gland : A Case Report (갑상선의 Warthin 모양 종양 1예)

  • Kwon Ki-Hwan;Yoon Jong-Ho;Hong Soon-Won;Koo Ja-Seung;Chung Woung-Youn;Park Cheong-Soo
    • Korean Journal of Head & Neck Oncology
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    • v.20 no.1
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    • pp.33-36
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    • 2004
  • Papillary carcinoma of thyroid is the most common thyroid carcinoma carrying better prognosis than the other thyroid carcinoma. Among the variants in the papillary thyroid carcinoma, the tall cell variant and diffuse sclerosing variants have more aggressive behavior than the classic papillary carcinoma. Recently, a new variant of papillary carcinoma has been reported which was named warthin-like tumor of the thyroid because of its close histologic resemblance to a tumor encountered in the salivary gland, carrying favorable prognosis. Since then, in English literature, a few cases have been reported, but in Korea have not been reported yet. We report a case of warthin-like tumor of the thyroid. A 38 year-old woman who had neck mass, was administered for thyroid surgery due to suspicious thyroid cytology. Right total thyroidectomy and left subtotal thyroidectomy with central compartment node dissection was performed. Histologic diagnosis was made as a Warthin-like tumor of the thyroid.

A Case of Balsalazide-Induced Limited Form of Granulomatosis with Polyangiitis with Bronchiolitis Obliterans Organizing Pneumonia-like Variant in Ulcerative Colitis

  • Kang, Shin-Myung;Jang, Young-Rock;Yoon, Hyun-Hwa;Kim, Su-Ji;Kim, Eun-Young;Ha, Seung-Yeon;Park, Jeong-Woong
    • Tuberculosis and Respiratory Diseases
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    • v.72 no.3
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    • pp.323-327
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    • 2012
  • 5-Aminosalicylate agents are the main therapeutic agents for ulcerative colitis. Balsalazide is a prodrug of 5-aminosalicylate and has fewer side effects than the other 5-aminosalicylate agents. Pulmonary complications resembling granulomatosis with polyangiitis in ulcerative colitis are extremely rare. Here, we report a patient with ulcerative colitis on balsalazide presenting respiratory symptoms and multiple pulmonary nodules from a chest radiography that was pathologically diagnosed with a limited form of granulomatosis with polyangiitis with bronchiolitis obliterans organizing pneumonia-like variant. To our knowledge, this is the first report of a balsalazide-induced limited form of granulomatosis with polyangiitis with bronchiolitis obliterans organizing pneumonia-like variant.

Fine Needle Aspiration Cytology of Diffuse Sclerosing Variant of Papillary Carcinoma of the Thyroid - A Case Report - (갑상선의 미만성 경화성 변종 유두상 암종의 세침흡인 세포학적 소견 - 1예 보고 -)

  • Kim, Joon-Mee;Min, Soo-Kee;Chu, Young-Chae;Kim, Mi-Rim;Kim, Kyung-Rae
    • The Korean Journal of Cytopathology
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    • v.11 no.1
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    • pp.47-52
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    • 2000
  • Diffuse sclerosing papillary carcinoma(DSPC), a variant of papillary carcinoma of the thyroid, is characterized by diffuse involvement of one or both thyroid lobes, and histologic features such as prominent sclerosis, intense lymphocytic infiltrate, numerous psammoma bodies, and squamous metaplasia together with the characteristic cytoarchitectural pattern of classical papillary carcinoma. We experienced a case of fine needle aspiration cytologic(FNAC) findings of DSPC, which was confirmed by histologic examination of the thyroidectomy specimens. The patient was 26 years old female who presented with diffuse firm enlargement of the thyroid gland with enlargement of many cervical lymph nodes. FNAC smears showed numerous psammoma bodies, many lymphocytes, metaplastic squamous cells, absence of stringy colloid, and epithelial cells showing classical features of papillary carcinoma, such as nuclear grooves, intranuclear unclusions, and ground glass chromatin pattern.

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A VARIANT OF THE QUADRATIC FUNCTIONAL EQUATION ON GROUPS AND AN APPLICATION

  • Elfen, Heather Hunt;Riedel, Thomas;Sahoo, Prasanna K.
    • Bulletin of the Korean Mathematical Society
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    • v.54 no.6
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    • pp.2165-2182
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    • 2017
  • Let G be a group and $\mathbb{C}$ the field of complex numbers. Suppose ${\sigma}:G{\rightarrow}G$ is an endomorphism satisfying ${{\sigma}}({{\sigma}}(x))=x$ for all x in G. In this paper, we first determine the central solution, f : G or $G{\times}G{\rightarrow}\mathbb{C}$, of the functional equation $f(xy)+f({\sigma}(y)x)=2f(x)+2f(y)$ for all $x,y{\in}G$, which is a variant of the quadratic functional equation. Using the central solution of this functional equation, we determine the general solution of the functional equation f(pr, qs) + f(sp, rq) = 2f(p, q) + 2f(r, s) for all $p,q,r,s{\in}G$, which is a variant of the equation f(pr, qs) + f(ps, qr) = 2f(p, q) + 2f(r, s) studied by Chung, Kannappan, Ng and Sahoo in [3] (see also [16]). Finally, we determine the solutions of this equation on the free groups generated by one element, the cyclic groups of order m, the symmetric groups of order m, and the dihedral groups of order 2m for $m{\geq}2$.

Growth and Physiological Effects of Immunity Feed Additives on the Juvenile Red Sea Cucumber Stichopus japonicus (홍해삼(Stichopus japonicus) 치삼의 성장 및 면역증강을 위한 면역증강사료첨가제의 개발)

  • Namgung, Jin;Ahn, Kyoung-Jin;Yeo, In-Kyu
    • Korean Journal of Fisheries and Aquatic Sciences
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    • v.48 no.4
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    • pp.466-473
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    • 2015
  • The juvenile red variant of the sea cucumber Stichopus japonicus is distributed worldwide. It is a valuable food source in Korea, China, and Japan. Major issues in farming the juvenile red variant sea cucumber include growth rates and disease resistance. In recent years, studies have focused on feed additives to enhance immune system and health. In this study, we used a common diet (CD), a nutritional diet (ND; mixed nutritional supplements), and an immunity diet (ID; mixed probiotics, spirulina, and levan) and compared the growth rates and immunity of juvenile red variant sea cucumbers fed the experimental diets for 12 weeks. The growth and survival rates in the ID group were significantly increased (P>0.05). This suggests that the feed additives positively influenced immunity and growth in the ID group. However, the immune activity was exhibit a stabilizing effect, and further investigation of immune effects is required.

Probabilistic-based prediction of lifetime performance of RC bridges subject to maintenance interventions

  • Tian, Hao;Li, Fangyuan
    • Computers and Concrete
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    • v.17 no.4
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    • pp.499-521
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    • 2016
  • In this paper, a probabilistic- and finite element-based approach to evaluate and predict the lifetime performance of reinforced concrete (RC) bridges undergoing various maintenance actions is proposed with the time-variant system reliability being utilized as a performance indicator. Depending on their structural state during the degradation process, the classical maintenance actions for RC bridges are firstly categorized into four types: Preventive type I, Preventive type II, Strengthening and Replacement. Preventive type I is used to delay the onset of steel corrosion, Preventive type II can suppress the corrosion process of reinforcing steel, Strengthening is the application of various maintenance materials to improve the structural performance and Replacement is performed to restore the individual components or overall structure to their original conditions. The quantitative influence of these maintenance types on structural performance is investigated and the respective analysis modules are written and inputted into the computer program. Accordingly, the time-variant system reliability can be calculated by the use of Monte Carlo simulations and the updated the program. Finally, an existing RC continuous bridge located in Shanghai, China, is used as an illustrative example and the lifetime structural performance with and without each of the maintenance types are discussed. It is felt that the proposed approach can be applied to various RC bridges with different structural configurations, construction methods and environmental conditions.

Edge-Preserving Iterative Reconstruction in Transmission Tomography Using Space-Variant Smoothing (투과 단층촬영에서 공간가변 평활화를 사용한 경계보존 반복연산 재구성)

  • Jung, Ji Eun;Ren, Xue;Lee, Soo-Jin
    • Journal of Biomedical Engineering Research
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    • v.38 no.5
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    • pp.219-226
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    • 2017
  • Penalized-likelihood (PL) reconstruction methods for transmission tomography are known to provide improved image quality for reduced dose level by efficiently smoothing out noise while preserving edges. Unfortunately, however, most of the edge-preserving penalty functions used in conventional PL methods contain at least one free parameter which controls the shape of a non-quadratic penalty function to adjust the sensitivity of edge preservation. In this work, to avoid difficulties in finding a proper value of the free parameter involved in a non-quadratic penalty function, we propose a new adaptive method of space-variant smoothing with a simple quadratic penalty function. In this method, the smoothing parameter is adaptively selected for each pixel location at each iteration by using the image roughness measured by a pixel-wise standard deviation image calculated from the previous iteration. The experimental results demonstrate that our new method not only preserves edges, but also suppresses noise well in monotonic regions without requiring additional processes to select free parameters that may otherwise be included in a non-quadratic penalty function.

Stabilization of the Time-variant Cointegrating Relations (시간가변적 공적분관계의 안정화)

  • Kim, Tae-Ho;Park, Ji-Won
    • The Korean Journal of Applied Statistics
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    • v.21 no.5
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    • pp.727-738
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    • 2008
  • If a cointegrating relation is affected by important economic and political events occurred in the sample period, the assumption of the time-invariant cointegrating vector is violated, which leads to the misrep-resentation of the actual relations between the variables. From such a viewpoint, this study utilizes the recursive estimation process in testing for the stability of the long-run equilibrium of the domestic stock market system and then attempts to develop the framework for stabilizing time-variant cointegraing relations by introducing the dummy variables where the structural changes are found to exist.