• Clinical Psychopharmacology and Neuroscience
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• v.16 no.4
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• pp.415-421
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• 2018

Objective: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social skills and communication with repetitive behaviors. Etiology is still unclear although it is thought to develop with interaction of genes and environmental factors. Oxytocin has extensive effects on intrauterine brain development. Vitamin D, affects neural development and differentiation and contributes to the regulation of around 900 genes including oxytocin receptor gene. In the present study, the contribution of D vitamin receptor and oxytocin receptor gene polymorphisms in the development of ASD in Turkish community was investigated. To our knowledge, this is the first study examining these two associated genes together in the literature. Methods: Eighty-five patients diagnosed with ASD according to DSM-5 who were referred to outpatient clinics of Child and Adolescent Psychiatry of Başkent University and Mersin University and 52 healthy, age and gender-matched controls were included in the present study. Vitamin D receptor gene rs731236 (Taq1), rs2228570 (Fok1), rs1544410 (Bsm1), rs7975232 (Apa1) polymorphisms and oxytocin receptor gene rs1042778 and rs2268493 polymorphisms were investigated using real time polymerase chain reaction method. Results: No significant difference between groups in terms of distribution of genotype and alleles in each of polymorphisms for these genes could be found. Conclusion: Knowledge of genes and polymorphisms associated with the development of ASD may be beneficial for early diagnosis and future treatment. Further studies with larger populations are required to demonstrate molecular pathways which may play part in the development of ASD in Turkey.

• Genomics & Informatics
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• v.21 no.4
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• pp.48.1-48.8
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• 2023

Liver cancer is the fourth leading cause of death worldwide. Well-known risk factors include hepatitis B virus and hepatitis C virus, along with exposure to aflatoxins, excessive alcohol consumption, obesity, and type 2 diabetes. Genomic variants play a crucial role in mediating the associations between these risk factors and liver cancer. However, the specific variants involved in this process remain under-explored. This study utilized a bioinformatics approach to identify genetic variants associated with liver cancer from various continents. Single-nucleotide polymorphisms associated with liver cancer were retrieved from the genome-wide association studies catalog. Prioritization was then performed using functional annotation with HaploReg v4.1 and the Ensembl database. The prevalence and allele frequencies of each variant were evaluated using Pearson correlation coefficients. Two variants, rs2294915 and rs2896019, encoded by the PNPLA3 gene, were found to be highly expressed in the liver tissue, as well as in the skin, cell-cultured fibroblasts, and adipose-subcutaneous tissue, all of which contribute to the risk of liver cancer. We further found that these two SNPs (rs2294915 and rs2896019) were positively correlated with the prevalence rate. Positive associations with the prevalence rate were more frequent in East Asian and African populations. We highlight the utility of this population-specific PNPLA3 genetic variant for genetic association studies and for the early prognosis and treatment of liver cancer. This study highlights the potential of integrating genomic databases with bioinformatic analysis to identify genetic variations involved in the pathogenesis of liver cancer. The genetic variants investigated in this study are likely to predispose to liver cancer and could affect its progression and aggressiveness. We recommend future research prioritizing the validation of these variations in clinical settings.

• Asia pacific journal of information systems
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• v.29 no.4
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• pp.856-874
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• 2019

The performance of recommender systems (RS) has been measured mainly in terms of accuracy. However, there are other aspects of performance that are difficult to understand in terms of accuracy, such as coverage, serendipity, and satisfaction with recommended results. Moreover, particularly with RSs that suggest multiple items at a time, such as YouTube, user satisfaction with recommended results may vary not only depending on their accuracy, but also on their configuration, content, and design displayed to the user. This is true when classifying an RS as a single RS with one recommended result and as a multiple RS with diverse results. No empirical analysis has been conducted on the influence of the content and distribution of recommendation items on user satisfaction. In this study, we propose a research model representing the content and distribution of recommended items and how they affect user satisfaction with the RS. We focus on RSs that recommend multiple items. We performed an empirical analysis involving 149 YouTube users. The results suggest that user satisfaction with recommended results is significantly affected according to the HHI (Herfindahl-Hirschman Index). In addition, satisfaction significantly increased when the recommended item on the top of the list was the same category in terms of content that users were currently watching. Particularly when the purpose of using RS is hedonic, not utilitarian, the results showed greater satisfaction when the number of views of the recommended items was evenly distributed. However, other characteristics of selected content, such as view count and playback time, had relatively less impact on satisfaction with recommended items. To the best of our knowledge, this study is the first to show that the category concentration of items impacts user satisfaction on websites recommending diverse items in different categories using a content-based filtering system, such as YouTube. In addition, our use of the HHI index, which has been extensively used in economics research, to show the distributional characteristics of recommended items, is also unique. The HHI for categories of recommended items was useful in explaining user satisfaction.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.5
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• pp.1873-1880
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• 2015

Background: A recent genome-wide association study (GWAS) on patients with chronic hepatitis C (CHC) treated with peginterferon and ribavirin (pegIFN-${\alpha}$/RBV) identified a single nucleotide polymorphism (SNP) on chromosome 19 (rs12979860) which was strongly associated with a sustained virological response (SVR). The aim of this study was twofold: to study the relationship between IL28B rs12979860 and sustained virological response (SVR) to pegIFN-${\alpha}$/RVB therapy among CHC patients and to detect the rs12979860 polymorphism by high resolution melting curve (HRM) assay as a simple, fast, sensitive, and inexpensive method. Materials and Methods: The study examined outcomes in 100 patients with chronic hepatitis C in 2 provinces of Iran from December 2011 to June 2013. Two methods were applied to detect IL28B polymorphisms: PCR-sequencing as a gold standard method and HRM as a simple, fast, sensitive, and inexpensive method. Results: The frequencies of IL28B rs12979860 CC, CT, and TT alleles in chronic hepatitis C genotype 1a patients were 10% (10/100), 35% (35/100), and 6% (6/100) and in genotype 3a were 13% (13/100), 31% (31/100), and 5% (5/100), respectively. In genotype 3a infected patients, rs12979860 (CC and CT alleles) and in genotype 1a infected patients (CC allele) were significantly associated with a sustained virological response (SVR). The SVR rates for CC, CT and TT (IL28B rs12979860) were 18%, 34% and 4%, respectively. Multiple logistic regression analysis identified two independent factors that were significantly associated with SVR: IL-28B genotype (rs 12979860 CC vs TT and CT; odds ratio [ORs], 7.86 and 4.084, respectively), and HCV subtype 1a (OR, 7.46). In the present study, an association between SVR rates and IL28B polymorphisms was observed. Conclusions: The HRM assay described herein is rapid, inexpensive, sensitive and accurate for detecting rs12979860 alleles in CHC patients. This method can be readily adopted by any molecular diagnostic laboratory with HRM capability and will be clinically beneficial in predicting treatment response in HCV genotype 1 and 3 infected patients. In addition, it was demonstrated that CC and CT alleles in HCV-3a and the CC allele in HCV-1a were significantly associated with response to pegIFN-${\alpha}$/RBV treatment. The present results may help identify subjects for whom the therapy might be successful.

• Genomics & Informatics
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• v.8 no.4
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• pp.206-211
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• 2010

The Fas (TNF receptor superfamily, member 6) (FAS)/FAS ligand (FASLG) interaction plays a central role in the regulation of programmed cell death. FAS and FASLG polymorphisms in promoter regions affect transcriptional activities. To investigate whether FAS and FASLG polymorphisms are associated with the development and clinical phenotypes of stroke, 2 promoter single nucleotide polymorphisms (SNPs) in FAS (rs1800682, -670C/T) and FASLG (rs763110, -844C/T) were selected and genotyped by direct sequencing in 220 stroke patients [107 ischemic stroke (IS), 77 intracerebral hemorrhage (ICH), and 36 subarachnoid hemorrhage (SAH)] and 369 control subjects. For the analysis of clinical symptoms, all stroke patients were divided into 3 clinical phenotypes according to the respective results of the National Institutes of Health Stroke Survey (NIHSS) and the Modified Barthel Index (MBI) and the presence or absence of complex regional pain syndrome (CRPS). The SNPStats, SNPAnalyzer, and Helixtree programs were used to analyze the genetic data. Multiple logistic regression models (codominant, dominant, and recessive) were used to estimate odds ratios (ORs), 95% confidence intervals (CIs), and p-values. The promoter SNP rs1800682 was associated with stroke in the codominant (OR=0.48, 95% CI=0.25-0.94, p=0.04) and dominant models (OR=0.51, 95% CI=0.30-0.87, p=0.011). However, a FASLG SNP (rs763110) was not in Hardy-Weinberg equilibrium (p<0.05). In the analysis of stroke types, rs1800682 was associated with IS in the codominant (OR=0.30, 95% CI=0.12-0.74, p=0.025), dominant (OR=0.44, 95% CI=0.23-0.88, p=0.018), and recessive models (OR=0.45, 95% CI=0.21-0.99, p=0.042). The genotype frequencies of rs1800682 were different between ICH and controls in the dominant model (OR=0.49, 95% CI=0.26-0.94, p=0.031) but not between SAH and controls. In the analysis of clinical symptoms, however, rs1800682 was not related to the 3 clinical phenotypes (NIHSS, MBI, and CRPS). These results suggest that a promoter SNP (rs1800682, -670C/T) in FAS may be associated with the development of stroke in the Korean population.

• Proceedings of the Korean Journal of Food and Nutrition Conference
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• 2001.12a
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• pp.124-124
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• 2001

난소화성전분(resistant starch, RS)는 건강한 사람의 소장에서 흡수되지 않는 전분과 분해된 전분의 산물을 총칭하는데. 대장에서 발효와 미생물성장, 식후 혈당, 변부피, 장통과시간, 식품의 열량가 등에 영향을 미치므로 생리적인 이점을 갖는다. 본 연구에서는 고지방식이와 콜레스테롤을 섭취란 흰쥐에서 제조과정이 다른 RS의 섭취가 저 열량원으로서 체중감소나 혈액내 지방성분을 낮추는 효과가 있는지를 알아보는 것을 목적으로 하였다. 연구방법으로 실험동물은 생후 4주된 Sprague-Dawl ey계 수컷 흰쥐로, 지방을 식이 무게의 20%, 콜레스테롤이 식이 무게의 1%로 첨가 된 고지방식이로 6주를 사육시켜 비만과 고콜레스테롤증을 유발시켰다. 고콜레스테롤이 유발된 실험동물은 섭취하는 전분의 형태가 다른 실험식이로 4주간을 더 사육하였고 사육기간이 끝난 실험동물들은 희생하여 생화학적인 실험- 혈액과 간의 총지방양, 중성지방양, 콜레스테롤양을 측정하였고, 면역능력으로 비장세포 증식, 혈장내 IgG, $C_3$양을 측정하였고. 혈장내 leptin 양을 측정하였다. 실험결과는 체중과 체내 저장지방무게가 난소화성전분 혼합군(RSNE)에서 유의적으로 감소하였다. 혈장내 지방성분을 보면, 총 지방의 경우 고지방대조군(HC)이 저지방 대조군(LC)에 비래 유의적으로 높았으며, RS를 섭취하면 유의적으로 낮아지는 경향을 보여 저지방을 섭취한 LC군에 비해서 낮은 수치를 나타내고 있다. 혈장 중성지방은 저지방 즉 고 탄수화물식이를 섭취하는 LC군이 유의적으로 높았으며 고지방을 섭취하는 경우는 실험군에 차이가 없었다. 혈장 총 콜레스테롤은 LC군에 비해 고지방과 콜레스테롤을 섭취하는 HC군이 유의적으로 높았으며. RSNE군에서는 유의적인 감소를 보였다. HDL-콜레스테롤에서는 실험군간에 차이가 없었다. 간내 총지방과 콜레스테롤량, 중성지방량은 LC군이 다른 군에 비해 유의적으로 적었으며 고지방섭취군들은 섭취하는 전분의 종류에 따른 차이가 나타나지 않았다. 면역능력을담당하는 체내 기관인 비장세포의 중식능력은 실험군간에 유의적인 차이가 없으나 혈장의 Ig G 양은 RSNE군이 유의적으로 높고, $C_3$ 양은 난소화성 전분 추출군(RSEX)에서 유의적으로 높게 나타났다. 혈장에서의 leptin 농도는 고지방 대조군인 HC군이 유의적으로 높았으며, RSNE군이 LC군과 같이 유의적으로 낮았다. 결론으로 난소화성 전분(RS)를 식이무게의 10%로 첨가하는 수준에서 순수한 RS보다는 RS제조과정 중 순수한 RS를 분리하기 전 단계인 RS를 포함한 전분이 체중감소, 체내 저장지방감소, 혈액 내 콜레스테롤을 저하시키는 효과를 보였다. 그러므로 RS의 섭취는 섭취형태에 따라 저 열량원으로, 혈액 내 지방성분을 낮추는 효과를 가진 기능성 식품소재로 사용될 수 있을 것이다.

• Journal of Ginseng Research
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• v.23 no.2 s.54
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• pp.61-66
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• 1999

Experiments were carried out to examine the rusty tolerance in 61 inbred lines of ginseng cultivated in field, and chemical components were analyzed to clarify the difference between healthy and rusty ginseng roots. Among them, 10 lines showed rusty tolerance (RT) while 10 lines showed rusty sensitivity (RS). The content of phenolic compound in RT was lower than that in RS in cortex, epidermis and branch & fine roots, but it was not difference between RT and RS in stele. The contents of K, Ca, Na in RT were lower than RS in cortex, and the content of Mg, Fe, Na, Mn, AI, Si in RT were lower than RS in epidermis, and the content of Fe in RT were lower than RS in branch & fine roots, but mineral contents were not difference between RT and RS in stele. The content of phenolic compound in healthy cortex was lower than that in rusty cortex in same 6-year roots, but the mineral contents were not difference between healthy and rusty cortex in same 6-year roots. In root of seedlings, the contents of phenolic compound, K and Na in RT were lower than RS. It was suggested that the contents of phenolic compound, K and Na might be marker to select rusty tolerance ginseng lines.

• Journal of the Institute of Electronics Engineers of Korea SD
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• v.45 no.2
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• pp.101-111
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• 2008

This paper introduces a high-speed Reed-Solomon(RS) decoder, which reduces the hardware complexity, and presents an RS decoder based FEC architecture which is used for 40Gb/s optical communication systems. We introduce new pipelined degree computationless modified Euclidean(pDCME) algorithm architecture, which has high throughput and low hardware complexity. The proposed 16 channel RS FEC architecture has two 8 channel RS FEC architectures, which has 8 syndrome computation block and shared single KES block. It can reduce the hardware complexity about 30% compared to the conventional 16 channel 3-parallel FEC architecture, which is 4 syndrome computation block and shared single KES block. The proposed RS FEC architecture has been designed and implemented with the $0.18-{\mu}m$ CMOS technology in a supply voltage of 1.8 V. The result show that total number of gate is 250K and it has a data processing rate of 5.1Gb/s at a clock frequency of 400MHz. The proposed area-efficient architecture can be readily applied to the next generation FEC devices for high-speed optical communications as well as wireless communications.

• Proceedings of the Korean Society of Crop Science Conference
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• 2022.10a
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• pp.269-269
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• 2022

Pre-harvest sprouting (PHS) on rice panicles is getting problematic in recent several years in Korea due to climate changes such as high temperature and more frequent typhoons during harvesting season. PHS negatively affects grain quality severely and also yield. Genetic improvement of Korean varieties (Oryza sativa ssp. japonica) through a marker assisted-backcross breeding (MAB) with the known PHS resistant genes must be one of ideal solutions. However, the final breeding products of MAB occasionally exhibit unwanted traits, especially the cross between genetically distant parents. This might be caused by linkage drag and/or presence of the gene-unlinked donor introgressions, resulting that the final products could not be released to the farmers. The major PHS resistance gene, Sdr4 (Seed dormancy 4) originated from an indica cultivar, Kasalath was selected as a donor gene. In order to avoid unexpected phenotypes in the breeding products, we performed a precision marker-based breeding (PMBB) consisting of foreground, recombinant, and background selections (FS, RS, and BS) which aim to develop 'single small introgression lines' (~100 kb introgression). Korean varieties (Ilpum and Gopum) were crossed with Kasalath. We developed Sdr4-allele specific markers for FS and a set of polymorphic flanking markers near the Sdr4 (-350kb and +420kb) for RS. To minimize linkage drag, the small introgression (< 125kb) containing Sdr4 was selected in Ilpum background (BC₂F₄) through 1^st RS with ~1,200 F₂ or BC₁F₂ plants (one side trimmed) and then 2^nd RS with ~1,000 progenies from the 1^st RS selected plants (another side trimmed). After RS, the selected lines were genotyped by using Infinium 7K SNP chip to detect other donor introgressions and the lines were backcrossed. Currently BS is on-going from the backcross-derived progenies with BS markers to remove residual introgressions. During the PMBB process, genetic effect of Sdr-4-Kasalath allele was confirmed in Ilpum and Gopum backgrounds by PHS phenotyping using the segregating BC₂F₃ or BC₁F₄ materials. The Sdr4 PMBB lines in Ilpum background (< 125kb introgression) will be valuable genetic resources to improve PHS resistance in modem popular temperate japonica varieties.

• Journal of Dental Anesthesia and Pain Medicine
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• v.18 no.4
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• pp.261-265
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• 2018

Rett syndrome (RS) is a neurodevelopmental disorder characterized by loss of cognitive, motor, and social skills, epilepsy, autistic behavior, abnormal airway patterns, gastroesophageal reflux, nutritional problems, and severe scoliosis. Although girls with RS show normal or near-normal growth until 6-8 months, they lose their skills after that. The anesthetic management of these patients requires care because of all these clinical features. Especially in the postoperative period, prolonged apnea is common and extubation is delayed. In this case report, the effect of using sugammadex was presented in a 16-year-old girl with RS. The patient's all bimaxillary teeth and 4 wisdom teeth were extracted under general anesthesia in one session with minimal surgical trauma and moderate bleeding. Sugammadex can be a rapid and reliable agent for the reversal of the neuromuscular block in neurodegenerative patients.