• Title/Summary/Keyword: Del-1

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CHEK2 1100delC Variant and Breast Cancer Risk in Caucasians: A Meta-analysis Based on 25 Studies with 29,154 Cases and 37,064 Controls

  • Yang, Yuan;Zhang, Fan;Wang, Yang;Liu, Sheng-Chun
    • Asian Pacific Journal of Cancer Prevention
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    • v.13 no.7
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    • pp.3501-3505
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    • 2012
  • Links between the CHEK2 1100delC heterozygote and breast cancer risk have been extensively explored. However, both positive and negative associations with this variant have been reported in individual studies. For a detailed assessment of the CHEK2 1100delC heterozygote and breast cancer risk, relevant studies published as recently as May 2012 were identified using PUBMED and EMBASE and selected using a priori defined criteria. The strength of the relationship between the CHEK2 1100delC variant and breast cancer risks was assessed by odds ratios (ORs) under the fixed effects model. A total of 29,154 cases and 37,064 controls from 25 case-control studies were identified in this meta-analysis. The CHEK2 1100delC heterozygote was more frequently detected in cases than in controls (1.34% versus 0.44%). A significant association was found between CHEK2 1100delC heterozygote and breast cancer risk (OR=2.75, 95% CI: [2.25, 3.36]). The ORs and CIs were 2.33 (95% CI: [1.79, 3.05]), 3.72 (95% CI: [2.61, 5.31]) and 2.78 (95% CI: [2.28, 3.39]) respectively in unselected, family, early-onset breast cancer subgroups. The CHEK2 1100delC variant could be a potential factor for increased breast cancer risk in Caucasians. However, more consideration is needed in order to apply it to allele screening or other clinical work.

Effects of a Weight Loss Program on Body Composition and Resting Energy Expenditure according to UCP 2 Genotype in Overweight Subjects

  • Shin, Ho-Jeung;Cho, Mi-Ran;Lee, Hye-Ok;Kim, Young-Sul;Ryowon Choue
    • Nutritional Sciences
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    • v.5 no.4
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    • pp.221-227
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    • 2002
  • The objective of this study was to examine the effects of a weight loss program on the degree of obesity and levels of resting energy expenditure (REE) in overweight subjects according to their mitochondrial uncoupling protein 2 (UCP 2) genotype. Twenty-three subjects with a body mass index (BMI) greater than 27 were recruited from the Obesity Clinic of the Kyung-Hee University Hospital during the period of December 2000 - August 2001. The subjects were genotyped for the exon 8 allele; 15 subjects were found to be of del/del genotype, 8 were del/ins, and none were of ins/ins genotype. No significant association was found between the different UCP 2 genotypes and the initial levels of weight, fat mass (FM), lean body mess (LBM), BMI, REE, and REE/LBM ratio. After 12 weeks of a weight loss program, body weight and FM were significantly decreased, while LBM, total body water (TBW), and REE were not changed, irrespective of UCP 2 genotype. Initial fasting plasma levels of albumin, glucose, triglyceride, lipoprotein cholesterol, insulin, free triiodo-thyronine (T3), free fatty acid (FFA), and leptin were not different according to the UCP 2 genotype; furthermore, these blood parameters were not changed after the 12-week weight loss program. However, plasma levels of leptin decreased in both the del/del and ins/del genotypes, from 18.7 ng/ml to 13.4 ng/ml (p<.05), and from 18.1 ng/ml to 13.9 ng/ml (p<.05), respectively, after the weight loss program. In conclusion, this study found no significant association between the del/del or del/ins UCP 2 genotypes and differing levels of REE or differing degrees of obesity, either before or after a weight loss program. This study provided evidence that a well- managed weight loss program could maintain levels of REE, which plays an important role in the maintenance of energy balance.

Enfrentamiento con el trauma a través de análisis de personajes femeninos en (영화, <루시아>의 여성 인물 분석을 통한 트라우마 직면의 문제)

  • Park, Chong-Wook
    • Iberoamérica
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    • v.12 no.1
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    • pp.187-212
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    • 2010
  • El cine como medio de narrar el trauma histórico de los cubanos se formó especialmente en los años sesenta gracias al Instituto Cubano del Arte e Industria Cinematográficos y se sitúa en la cumbre. En el cine hecho por el director cubano Humberto Solás el discurso de historia, trauma y su memoria tiende a relatar básicamente sobre el mensaje de no olvidar el trauma histórico a través de buscar la manera eficaz e intrínseca de narrarlo. El hecho de no olvidar el trauma histórico y de poder enfrentarse con los elementos causantes del trauma significa el poder de tener la posibilidad probable de adquirir la mirada objetiva para observar la experiencia 'histórica' y la memoria 'cotidiana', y sus relaciones. Si consideramos el hecho de que la tendencia de la víctima suele querer olvidar la memoria del trauma por el miedo y dolor de enfrentarse con la representación del trauma, el enfrentarse con el trauma representado ya puede significar que la víctima esté en un trámite de conseguir la penetración con la cual supera lo negativo que le ofrece el trauma a la víctima. Este artículo se dedica especialmente para averiguar la estrategia del director cubano para realizar este fin de encontrar la manera adecuada en narrar el trauma cubano para que los cubanos puedan adquirir la penetración a través de la identificación y la simpatía entre los personajes del cine y los espectadores, enfocando con detalle en los carácteres de los protagonistas femeninas que son tres diferentes individuos en el mismo número de episodios. Cada protagonista, Lucía en cada episodio experimenta el trauma personal con diversos motivos, pero a pesar del dolor y del miedo del trauma histórico se despiertan los espectadores, quienes se identifican con la protagonista a través de la simpatía y la identificación, llegándose al momento de conseguir la penetración con la cual mira el futuro de la sociedad cubana con el objetivismo libre de los traumas históricos.

Correlation between Karyotype and Phenotype in Turner Syndrome (터너증후군의 핵형과 표현형간의 연관성)

  • Shim, Ye-Jee;Hwang, Young-Ju;Lee, Kun-Soo
    • Journal of Genetic Medicine
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    • v.6 no.1
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    • pp.67-73
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    • 2009
  • Purpose : In spite of the karyotype and phenotype diversity in Turner syndrome patients, there are few reports about such differences in Korea. We reviewed the data of chromosome abnormalities, clinical manifestations, and comorbidities of Turner syndrome patients in Kyungpook National University Hospital to compare them to the recent hypotheses about sex chromosome gene loci related to Turner symptoms. Materials and Methods : We identified the cytologic findings of 92 patients with Turner syndrome and the clinical findings of 62 patients among them. Results : 54.3 percent of patients had 45,X while 45.7 percent showed other karyotype combinations (45,X/46,XX, 45,X/46,XX/47,XXX, 46,X,del(Xp), 46,X,del(Xq), 45,X/46,X,del(Xq), 46,X,i(Xq), 45,X/46,X,i (Xq)). The Turner symptoms found included short neck, high arched palate, broad chest, Madelung deformity, short metacarpals, scoliosis, cubitus valgus, low hair line, webbed neck, edematous extremities, pigmented nevus, and sexual infantilism. The specific diseases associated Turner syndrome included renal abnormalities, congenital heart disease, hearing defects, diabetes mellitus, hyperlipidemia, and decreased bone density. The phenotype of the mosaicism group was milder than that of the monosomy group. In the case of 46,X,del(Xp) and 45,X/46,X,del(Xq) groups, all had skeletal abnormalities, but the 46,X,del(Xq) group had none. In the case of 46,X,del(Xp) group, all showed short statures and skeletal abnormalities, but no sexual infantilism was observed. In the case of 46,X,i(Xq) and 45,X/46,X,i(Xq) groups, they all showed delayed puberty and had primary amenorrhea. Conclusion : It is important to study karyotype-phenotype correlations in patients with Turner syndrome to obtain interesting information about the genotype-phenotype correlations related to the X chromosome.

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Characterization of the bacteriophage P4 sid+ derivative overcoming P2sir-associated helper inefficiency through DNA conformational adaptation (DNA 형태 적응을 거쳐 P2sir-관련 도움파지 비효율성을 극복하는 박테리오파지 P4 sid+ 유도체 정성 연구)

  • Kim, Kyoung-Jin
    • Korean Journal of Microbiology
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    • v.52 no.1
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    • pp.120-124
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    • 2016
  • A certain size of DNA (28-29 kb long) to be packaged into P2-size head and the mutation in sid gene of bacteriophage P4 are the major factors to overcome "P2 sir-associated helper inefficiency". To clarify whether the presence of sid mutation is essential to overcome "P2 sir-associated helper inefficiency" or not, we tested the P4 derivative, P4 delRI::kmr, which is $sid^+$ and whose genome size supposed to be 28.5 kb long in the case of being packaged into $P2_{sir3}$-sized large head. As P4 delRI::kmr showed the low EOP with P2 sir3 lysogen, P4 delRI::kmr phage stock was prepared in P2 sir3 lysogen host to increase the EOP with P2 sir3 lysogen. Through this process, P4 delRI::kmr had been adapted for P2 sir3 lysogen. With a CsCl buoyant equilibrium density gradient experiment and gel electrophoresis of the isolated DNA, it was evident that the adaptation of P4 delRI::kmr for P2 sir3 lysogen was caused by the conformational change of DNA to be packaged into large head. The burst size determination experiments with P4 delRI::kmr phage stock adapted for P2 sir3 lysogen and normal P4 delRI::kmr phage stock showed that not the sid mutation but the size of DNA to be packaged (28-29 kb long) was essential to overcome "P2 sir-associated helper inefficiency".

Mathematics as Syntax: Gödel's Critique and Carnap's Scientific Philosophy (구문론으로서의 수학: 괴델의 비판과 카르납의 과학적 철학)

  • Lee, Jeongmin
    • Korean Journal of Logic
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    • v.21 no.1
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    • pp.97-133
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    • 2018
  • In his unpublished article, "Is Mathematics Syntax of Language?," $G{\ddot{o}}del$ criticizes what he calls the 'syntactical interpretation' of mathematics by Carnap. Park, Chun, Awodey and Carus, Ricketts, and Tennant have all reconstructed $G{\ddot{o}}del^{\prime}s$ arguments in various ways and explored Carnap's possible responses. This paper first recreates $G{\ddot{o}}del$ and Carnap's debate about the nature of mathematics. After criticizing most existing reconstructions, I claim to make the following contributions. First, the 'language relativity' several scholars have attributed to Carnap is exaggerated. Rather, the essence of $G{\ddot{o}}del^{\prime}s$ critique is the applicability of mathematics and the argument based on 'expectability'. Thus, Carnap's response to $G{\ddot{o}}del$ must be found in how he saw the application of mathematics, especially its application to science. I argue that the 'correspondence principle' of Carnap, which has been overlooked in the existing discussions, plays a key role in the application of mathematics. Finally, the real implications of $G{\ddot{o}}del^{\prime}s$ incompleteness theorems - the inexhaustibility of mathematics - turn out to be what both $G{\ddot{o}}del$ and Carnap agree about.

Risk and Protective Factors for Gastrointestinal Symptoms associated with Antibiotic Treatment in Children: A Population Study

  • Bau, Mario;Moretti, Alex;Bertoni, Elisabetta;Vazzoler, Valentino;Luini, Chiara;Agosti, Massimo;Salvatore, Silvia
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.23 no.1
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    • pp.35-48
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    • 2020
  • Purpose: Gastrointestinal symptoms are often related to antibiotic treatment. Their incidence, risk and protective conditions in children are not well defined and represent the aims of this study. Methods: We prospectively enrolled inpatient children submitted to antibiotic treatment. Indication, type, dose and duration of treatment, probiotic supplementation and gastrointestinal symptoms were recorded at recruitment, after two and four weeks. Antibiotic-associated diarrhea (AAD) was defined as the presence of at least 3 loose/liquid stools within 14 days from antibiotic onset. Results: AAD occurred in 59/289 (20.4%) of patients, with increased risk in children younger than 3 years (relative risk [RR]=4.25), in lower respiratory (RR=2.11) and urinary infections (RR=3.67), intravenous administration (RR=1.81) and previous AAD episodes (RR=1.87). Abdominal pain occurred in 27/289 (9.3%), particularly in children >6 years (RR=4.15), with previous abdominal pain (RR=7.2) or constipation (RR=4.06). Constipation was recorded in 23/289 (8.0%), with increased risk in children having surgery (RR=2.56) or previous constipation (RR=7.38). Probiotic supplementation significantly reduced AAD (RR=0.30) and abdominal pain (RR=0.36). Lactobacillus rhamnosus GG (LGG) and L. reuteri significantly reduced AAD (RR=0.37 and 0.35) and abdominal pain (RR=0.37 and 0.24). Conclusion: AAD occurred in 20.4% of children, with increased risk at younger age, lower respiratory and urinary tract infections, intravenous treatment and previous AAD. LGG and L. reuteri reduced both AAD and associated abdominal pain.

Anti-inflammatory and utero-relaxant effect of α-bisabolol on the pregnant human uterus

  • Munoz-Perez, Victor Manuel;Ortiz, Mario I.;Ponce-Monter, Hector A.;Monter-Perez, Vicente;Barragan-Ramirez, Guillermo
    • The Korean Journal of Physiology and Pharmacology
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    • v.22 no.4
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    • pp.391-398
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    • 2018
  • The aim of this study was to evaluate the in vitro anti-inflammatory and utero-relaxant effect of ${\alpha}$-bisabolol on the pregnant human myometrium. Samples from the pregnant human myometrium were used in functional tests to evaluate the inhibitory effect of ${\alpha}$-bisabolol (560, 860, 1,200 and $1,860{\mu}M$) on spontaneous myometrial contractions. The intracellular cyclic adenosine monophosphate (cAMP) levels generated in response to ${\alpha}$-bisabolol in human myometrial homogenates were measured by ELISA. The anti-inflammatory effect of ${\alpha}$-bisabolol was determined through the measurement of two pro-inflammatory cytokines, tumor necrosis factor-${\alpha}$ ($TNF{\alpha}$) and interleukin $(IL)-1{\beta}$, and the anti-inflammatory cytokine IL-10, in pregnant human myometrial explants stimulated with lipopolysaccharide (LPS). Forskolin was used as a positive control to evaluate the cAMP and cytokine levels. ${\alpha}$-Bisabolol was found to induce a significant inhibition of spontaneous myometrial contractions at the highest concentration level (p<0.05). ${\alpha}$-Bisabolol caused a concentration-dependent decrease in myometrial cAMP levels (p<0.05) and a concentration-dependent decrease in LPS-induced $TNF{\alpha}$ and $IL-1{\beta}$ production, while IL-10 production did not increase significantly (p>0.05). The anti-inflammatory and utero-relaxant effects induced by ${\alpha}$-bisabolol were not associated with an increase in cAMP levels in pregnant human myometrial samples. These properties place ${\alpha}$-bisabolol as a potentially safe and effective adjuvant agent in cases of preterm birth, an area of pharmacological treatment that requires urgent improvement.

Frege and Gödel in Knowledge Change Model ('지식변화모델' 에서 프레게와 괴델)

  • Park, Chang Kyun
    • Journal for History of Mathematics
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    • v.27 no.1
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    • pp.47-57
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    • 2014
  • This paper aims to evaluate works of Frege and G$\ddot{o}$del, who play the trigger role in development of logic, by Knowledge Change Model. It identifies where their positions are in the model respectively. For this purpose I suggest types of knowledge change and their criteria for the evaluation. Knowledge change are classified into five types according to the degree of its change: improvement, weak glorious revolution, glorious revolution, strong glorious revolution, and total revolution. Criteria to evaluate the change are its contents, influence, pervasive effects, and so forth. The Knowledge Change Model consists of the types and the criteria. I argue that in the model Frege belongs to the total revolution and G$\ddot{o}$del to the weak glorious revolution. If we accept that the revolution in logic initiated by Frege was completed by G$\ddot{o}$del, it is a natural conclusion.

Prevalence of infectious reproductive diseases in sows from Tolima-Colombia

  • Nicolas Carrillo-Godoy;Valentina Rueda-Garcia;Heinner Fabian Uribe-Garcia;Iang Schroniltgen Rondon-Barragan
    • Korean Journal of Veterinary Research
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    • v.63 no.1
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    • pp.4.1-4.5
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    • 2023
  • The prevalence of some swine reproductive and zoonotic diseases in Colombia is unknown, making their management difficult. This study assessed the prevalence of porcine circovirus type 3 (PCV3), Leptospira interrogans, pseudorabies virus, and porcine gamma-herpesvirus by polymerase chain reaction in sows in the productive stage, from farms with a history of reproductive failures, at the department of Tolima. The prevalence of PCV3 was 2.6% and 12.6% for L. interrogans, with some samples co-infected with PCV2. Owing to the coinfections with PCV2, it is necessary to establish whether the interactions between these pathogens were related to the presence of reproductive problems.