• Title/Summary/Keyword: Internal deletion

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Anesthetic considerations for a pediatric patient with Wolf-Hirschhorn syndrome: a case report

  • Tsukamoto, Masanori;Yamanaka, Hitoshi;Yokoyama, Takeshi
    • Journal of Dental Anesthesia and Pain Medicine
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    • v.17 no.3
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    • pp.231-233
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    • 2017
  • Wolf-Hirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. Patients with this syndrome are characterized by craniofacial dysgenesis, seizures, growth delay, intellectual disability, and congenital heart disease. Although several cases have been reported, very little information is available on anesthetic management for patients with Wolf-Hirschhorn syndrome. We encountered a case requiring anesthetic management for a 2-year-old girl with Wolf-Hirschhorn syndrome. The selection of an appropriately sized tracheal tube and maintaining intraoperatively stable hemodynamics might be critical problems for anesthetic management. In patients with short stature, the tracheal tube size may differ from what may be predicted based on age. The appropriate size ( internal diameter ) of tracheal tubes for children has been investigated. Congenital heart disease is frequently associated with Wolf-Hirschhorn syndrome. Depending on the degree and type of heart disease, careful monitoring of hemodynamics is important.

Variation of nuclear and mitochondrial DNAs in Korean and Chinese isolates of Clonorchis sinensis

  • Lee, Soo-Ung;Huh, Sun
    • Parasites, Hosts and Diseases
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    • v.42 no.3
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    • pp.145-148
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    • 2004
  • We compared the DNA sequence difference of isolates of Clonorchis sinensis from one Korean (Kimhae) and two Chinese areas (Guangxi and Shenyang), The sequences of nuclear rDNA (18S, internal transcribed spacer 1 and 2: ITS1 and ITS2) and mitochondrial DNA (cytochrome c oxidase subunit 1: cox1) were compared. A very few intraspecific nucleotide substitution of the 18S, ITS1, ITS2 and cox1 was found among three isolates of C. sinensis and a few nucleotide insertion and deletion of ITS1 were detected. The 18S, ITS1, ITS2 and cox1 sequences were highly conserved among three isolates. These findings indicated that the Korean and two Chinese isolates are similar at the DNA sequence level.

RTN4 3'-UTR Insertion/Deletion Polymorphism and Susceptibility to Non-Small Cell Lung Cancer in Chinese Han Population

  • Lu, De-Yi;Mao, Xu-Hua;Zhou, Ying-Hui;Yan, Xiao-Long;Wang, Wei-Ping;Zheng, Ya-Biao;Xiao, Juan-Juan;Zhang, Ping;Wang, Jian-Guo;Ashwani, Neetika;Ding, Wei-Liang;Jiang, Hua;Shang, Yan;Wang, Ming-Hua
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.13
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    • pp.5249-5252
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    • 2014
  • Nogo protein, encoded by gene reticulon-4 (RTN4), includes three major isoforms by different splicing, named Nogo-A Nogo-B and Nogo-C. Nogo proteins play an important role in the apoptosis of cells, especially in tumor cells. RTN4 single nucleotide polymorphisms (SNPs) can influence the efficiency of transcription and translation thus being related with an individual's predisposition to cancer. The CAA insertion/deletion polymorphism (rs34917480) within RTN4 3'-UTR has been reported to be associated with many cancer types. In order to investigate the relationship between this polymorphism and susceptibility to non-small cell lung cancer (NSCLC) in the Chinese population, we conducted the present case-control study including 411 NSCLC patients and 471 unrelated healthy controls. The genotype distributions were significantly different between cases and controls (p=0.014). We found that the del allele could significantly increase NSCLC risk (ins/ins vs ins/del: p=0.007, OR 1.46, 95%CI=1.11-1.93; dominant model: p=0.004, OR 1.47, 95%CI=1.13-1.92 and allele model: p=0.008, OR 1.35, 95%CI=1.08-1.67). This association was stronger in participants over 60 years old, males and smokers. We therefore conclude that the CAA insertion/deletion polymorphism (rs34917480) contributes to non-small cell lung cancer risk in Chinese population. Age, sex and environmental exposure are also related to carcinogenic effects of rs34917480.

Comparative Analysis of Peptide Nucleic Acid (PNA)-Mediated Real-Time PCR Clamping and DNA Direct Sequencing for EGFR Mutation Detection (EGFR 돌연변이 검출에 있어 PNA-Mediated Real-Time PCR Clamping과 직접 염기서열 분석법의 비교 분석)

  • Kim, Hee-Joung;Kim, Wan-Seop;Shin, Kyeong-Cheol;Lee, Gwan-Ho;Kim, Mi-Jin;Lee, Jeong-Eun;Song, Kyu-Sang;Kim, Sun-Young;Lee, Kye-Young
    • Tuberculosis and Respiratory Diseases
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    • v.70 no.1
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    • pp.21-27
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    • 2011
  • Background: Although the gold standard method for research trials on epidermal growth factor receptor (EGFR) mutations has been direct sequencing, this approach has the limitations of low sensitivity and of being time-consuming. Peptide nucleic acid (PNA)-mediated polymerase chain reaction (PCR) clamping is known to be a more sensitive detection tool. The aim of this study was to compare the detection rate of $EGFR$ mutation and EGFR-tyrosine kinase inhibitor (TKI) responsiveness according to $EGFR$ mutation status using both methodologies. Methods: Clinical specimens from 112 NSCLC patients were analyzed for $EGFR$ mutations in exons 18, 19, 20, and 21. All clinical data and tumor specimens were obtained from 3 university hospitals in Korea. After genomic DNA was extracted from paraffin-embedded tissue specimens, both PNA-mediated PCR clamping and direct-sequencing were performed. The results and clinical response to $EGFR$-TKIs were compared. Results: Sequencing revealed a total of 35 (22.9%) mutations: 8 missense mutations in exon 21 and 26 deletion mutations in exon 19. PNA-mediated PCR clamping showed the presence of genomic alterations in 45 (28.3%) samples, including the 32 identified by sequencing plus 13 additional samples (6 in exon 19 and 7 in exon 21). Conclusion: PNA-mediated PCR clamping is simple and rapid, as well as a more sensitive method for screening of genomic alterations in $EGFR$ gene compared to direct sequencing. This data suggests that PNA-mediated PCR clamping should be implemented as a useful screening tool for detection of $EGFR$ mutations in clinical setting.

Physiological Effects of GLT1 Modulation in Saccharomyces cerevisiae Strains Growing on Different Nitrogen Sources

  • Brambilla, Marco;Manuela Adamo, Giusy;Frascotti, Gianni;Porro, Danilo;Branduardi, Paola
    • Journal of Microbiology and Biotechnology
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    • v.26 no.2
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    • pp.326-336
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    • 2016
  • Saccharomyces cerevisiae is one of the most employed cell factories for the production of bioproducts. Although monomeric hexose sugars constitute the preferential carbon source, this yeast can grow on a wide variety of nitrogen sources that are catabolized through central nitrogen metabolism (CNM). To evaluate the effects of internal perturbations on nitrogen utilization, we characterized strains deleted or overexpressed in GLT1, encoding for one of the key enzymes of the CNM node, the glutamate synthase. These strains, together with the parental strain as control, have been cultivated in minimal medium formulated with ammonium sulfate, glutamate, or glutamine as nitrogen source. Growth kinetics, together with the determination of protein content, viability, and reactive oxygen species (ROS) accumulation at the single cell level, revealed that GLT1 modulations do not significantly influence the cellular physiology, whereas the nitrogen source does. As important exceptions, GLT1 deletion negatively affected the scavenging activity of glutamate against ROS accumulation, when cells were treated with H2O2, whereas Glt1p overproduction led to lower viability in glutamine medium. Overall, this confirms the robustness of the CNM node against internal perturbations, but, at the same time, highlights its plasticity in respect to the environment. Considering that side-stream protein-rich waste materials are emerging as substrates to be used in an integrated biorefinery, these results underline the importance of preliminarily evaluating the best nitrogen source not only for media formulation, but also for the overall economics of the process.

PCR-RFLP and Sequence Analysis of the rDNA ITS Region in the Fusarium spp.

  • Min, Byung-Re;Lee, Young-Mi;Choi, Yong-Keel
    • Journal of Microbiology
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    • v.38 no.2
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    • pp.66-73
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    • 2000
  • To investigate the genetic relationship among 12 species belonging to the Fusarium section Martiella, Dlaminia, Gibbosum, Arthrosporiella, Liseola and Elegans, the internal transcribed spacer(ITS) regions of ribosomal DNA (rDNA) were amplified with primer pITS1 and pITS4 using the polymerase chain reaction(PCR). After the amplified products were digested with 7 restriction enzymes, restriction fragment length polymorphism (RFLP) patterns were analyzed. The partial nucleotide sequences of the ITS region were determined and compared. Little variation was observed in the size of the amplified product having sizes of 550bp or 570bp. Based on the RFLP analysis, the 12 species studied were divided into 5 RFLP types. In particular, strains belonging to the section Martiella were separated into three RFLP types. Interestingly, the RFLP type of F. solani f. sp. piperis was identical with that of isolates belonging to the section Elegans. In the dendrogram derived from RFLP analysis of the ITS region, the Fusarium spp. examined were divided into two major groups. In general, section Martiella excluding F. solani f. sp. piperis showed relatively low similarity with the other section. The dendrogram based on the sequencing analysis of the ITS2 region also gave the same results as that of the RFLP analysis. As expected, 5.8S, a coding region, was highly conserved, whereas the ITS2 region was more variable and informative. The difference in the ITS2 region between the length of F. solani and its formae speciales excluding F. solani f. sp. piperis and that of other species was caused by the insertion/deletion of nucleotides in positions 143-148 and 179-192.

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Reliability and Validity of The Korean Version Scale of Impact of Weight on Quality of Life in $Kids^{(C)}$ (한국어 버전 청소년의 체중 관련 삶의 질 측정도구의 신뢰도와 타당도 검증)

  • Kim, Jeoung-Hyun;Chun, Sungsoo;Choi, Han-Sik
    • The Journal of Korean Society for School & Community Health Education
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    • v.15 no.3
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    • pp.105-125
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    • 2014
  • Background: The purpose of this study was to evaluate reliability and validity of a 27-item Korean Version of the Impact of Weight on Quality of Life in adolescents ($IWQOL-Kids^{(C)}$: Korean Version). Methods: This instrument was administered to 872 adolescents (mean z-BMI: 2.61, mean $age{\pm}SD$: $13.9{\pm}1.2$, male: 51.9%). Reliability was tested by internal consistency method and item analysis, validity test was performed by index of content validity, exploratory factor analysis, confirmatory factor analysis and concurrent validity. Sensitivity was tested by ANOVA and t-test. Analyses were performed using SPSS and Amos 18.0. Results: By an exploratory factor analysis, 4 factors were extracted; 'Body esteem' consisted of 9 items with 35.9% of variance (social life: 6 items, 10.23%, physical comfort: 6 items, 8.21%, family relations: 6 items, 7.0%). Four factors explained 61.34% of total variance. Internal consistency coefficients ranged from .766 to .929 for scales on 27 items and equal to .920 for total score for both the 26-item and 27-item tools. A confirmatory factor analysis was conducted for the convergent validity and discriminant validity. The standardized factor loadings to test the convergent validity showed more than .5(C.R<1.965) on all paths after deletion of item PC1 (avoid stairs). The average variances extracted were more than .50 and the construct reliabilities were more than .70. The average variances extracted were stronger than the squares of correlation coefficient of inter-latent variables. Conclusions: These results support that the $IWQOL-Kids^{(C)}$: Korean Version with a 26-item is a reliable and valid tool in Korean obese adolescents.

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Immunogenicity of a novel inactivated canine adenovirus type 2 variant vaccine for dogs

  • Dong-Kun Yang;Sangjin Ahn;Hye Jeong Lee;Minuk Kim;Jong-Taek Kim;Ju-Yeon Lee;Yun Sang Cho
    • Clinical and Experimental Vaccine Research
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    • v.13 no.3
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    • pp.253-258
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    • 2024
  • Purpose: The immunogenicity of vaccines containing the canine adenovirus (CAdV) type 2 (CAdV-2) variant has not yet been reported. We prepared a novel inactivated CAdV-2 variant vaccine using the CAV2232-41 strain, and evaluated its safety and immunogenicity in raccoon dogs. Materials and Methods: The growth kinetics of CAV2232-41 were determined using Madin-Darby Canine Kidney (MDCK) cells. The nucleotide sequences of CAV2232 and CAV2232-41 were determined by next-generation sequencing. To generate the CAdV-2 variant vaccine, CAV2232-41 propagated in the MDCK cells was inactivated with 0.1% formaldehyde. Two vaccines were prepared by blending inactivated CAV2232-41 with Cabopol and Rehydragel adjuvants. Safety and immunogenicity of the CAV2232C and CAV2232R vaccines were evaluated in guinea pigs. Safety and immunogenicity of the CAV2232C vaccine were also evaluated in raccoon dogs. The virus neutralizing antibody (VNA) titer against CAV2232-41 was measured in sera collected from immunized guinea pigs and raccoon dogs. Results: CAV2232-41 showed the highest viral titer on days 4-6 post-inoculation and had a deletion in the E3 gene, which was confirmed as a CAdV-2 variant. Guinea pigs inoculated with CAV2232C showed slightly higher VNA titers than those inoculated with CAV2232R 2 weeks after booster vaccination. Raccoon dogs immunized with the CAV2232C vaccine developed high mean VNA titers, while non-vaccinated raccoon dogs were antibody-negative. Conclusion: The CAV2232C vaccine is safe and induces a protective VNA titer in raccoon dogs.

No Association of the rs17822931 Polymorphism in ABCC11 with Breast Cancer Risk in Koreans

  • Na, Ann-Yae;Heo, Jin-Chul;Sung, Jin Young;Lee, Jong-Ha;Kim, Yoon-Nyun;Kim, Dae-Kwang
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.5
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    • pp.2625-2628
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    • 2016
  • ABCC11 is reported to be associated with breast cancer. However, whether ABCC11 polymorphisms relate to breast cancer risk remains unclear. This study aimed to evaluate any association of a single nucleotide polymorphism (SNP), rs17822931, in ABCC11 with breast cancer in Koreans. Genomic DNA samples of 170 women with breast cancer and 100 controls were assessed for SNP rs17822931 of ABCC11 by single-strand conformation polymorphism (SSCP) and DNA sequencing. A 27-bp deletion (${\Delta}27$) of ABCC11 was analyzed by PCR amplification. The genotype of SNP rs17822931 was confirmed to be AA in all samples from breast cancer patients and ${\Delta}27$ was found in none of the samples. Our finding indicated that the SNP rs17822931 in ABCC11 is not associated with breast cancer. However, this study does provide information on fundamental genetic aspects of ABCC11 with regard to breast cancer risk in Koreans.

The Development of the Environmental Literacy Instrument for the Elementary School Students (초등학생 환경 소양 측정 도구의 개발)

  • Jung, Hyun-Hee;Seo, Woo-Seok
    • Hwankyungkyoyuk
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    • v.21 no.4
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    • pp.79-93
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    • 2008
  • The purpose of this study was to develop an instrument for measuring elementary school students' environmental literacy. The process of instrument development was four phases. The first two phases involved defining the domain of the construct, writing an initial pool of 55 items, and reviewing the items for revision and deletion. These steps were taken to provide the evidence of content-related validity, and to reduce a number of items. The third phase was, through item analysis, to determine the most appropriate items for the environmental literacy for the elementary school students. For the forth phases, the fifth and sixth students in elementary school participated in this survey. To examine the reliability and validity of environmental literacy for the elementary school students, internal consistency estimate, and factor analysis were used. The results of this study were summarized as follows; Firstly, thorough factor analysis, we developed Environmental Literacy Instrument for the elementary school students, consisted of total 41 items (knowledge 8 items, emotion 11 items, skill 10 items, and behavior 13 items); Secondly, Cronbach's alpha was .783 for knowledge, .832 for emotion, .866 for skill and 8.61 for behavior.

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