• Title/Summary/Keyword: Genetic Testing

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Sex Identification in Cinereous Vulture (Aegypius monachus) from Feather and Blood Samples: A Case Report

  • Seok, Seong Hoon;Kang, Sun Young;Han, Jae Ik;Im, Young Bin;Yoo, Han Sang;Yeon, Seong-Chan
    • Journal of Veterinary Clinics
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    • v.37 no.1
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    • pp.50-52
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    • 2020
  • Twenty-four cinereous vultures that had been taken to a wildlife center due to starvation and exhaustion were studied to evaluate approaches for determining sex. Coelioscopy was performed to identify sexes of two vultures, whereas, DNA testing was performed to identify the sexes of the 24 vultures. Testes and ovaries could be unambiguously identified with an endoscope and DNA analyses could identify sex sex in most, but not all of the specimens. Although the coelioscopy examination can unambiguously confirm sex, the approach is invasive and requires anesthesia. Thus, coelioscopic examination should only be performed when sex cannot be determined through DNA analysis.

Identification of Plant Viruses Infecting Pear Using RNA Sequencing

  • Kim, Nam-Yeon;Lee, Hyo-Jeong;Kim, Hong-Sup;Lee, Su-Heon;Moon, Jae-Sun;Jeong, Rae-Dong
    • The Plant Pathology Journal
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    • v.37 no.3
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    • pp.258-267
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    • 2021
  • Asian pear (Pyrus pyrifolia) is a widely cultivated and commercially important fruit crop, which is occasionally subject to severe economic losses due to latent viral infections. Thus, the aim of the present study was to examine and provide a comprehensive overview of virus populations infecting a major pear cultivar ('Singo') in Korea. From June 2017 to October 2019, leaf samples (n = 110) of pear trees from 35 orchards in five major pear-producing regions were collected and subjected to RNA sequencing. Most virus-associated contigs matched the sequences of known viruses, including apple stem grooving virus (ASGV) and apple stem pitting virus (ASPV). However, some contigs matched the sequences of apple green crinkle-associated virus and cucumber mosaic virus. In addition, three complete or nearly complete genomes were constructed based on transcriptome data and subjected to phylogenetic analyses. Based on the number of virus-associated reads, ASGV and ASPV were identified as the dominant viruses of 'Singo.' The present study describes the virome of a major pear cultivar in Korea, and looks into the diversity of viral communities in this cultivar. This study can provide valuable information on the complexity of genetic variability of viruses infecting pear trees.

Evolutionary-base finite element model updating and damage detection using modal testing results

  • Vahidi, Mehdi;Vahdani, Shahram;Rahimian, Mohammad;Jamshidi, Nima;Kanee, Alireza Taghavee
    • Structural Engineering and Mechanics
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    • v.70 no.3
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    • pp.339-350
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    • 2019
  • This research focuses on finite element model updating and damage assessment of structures at element level based on global nondestructive test results. For this purpose, an optimization system is generated to minimize the structural dynamic parameters discrepancies between numerical and experimental models. Objective functions are selected based on the square of Euclidean norm error of vibration frequencies and modal assurance criterion of mode shapes. In order to update the finite element model and detect local damages within the structural members, modern optimization techniques is implemented according to the evolutionary algorithms to meet the global optimized solution. Using a simulated numerical example, application of genetic algorithm (GA), particle swarm (PSO) and artificial bee colony (ABC) algorithms are investigated in FE model updating and damage detection problems to consider their accuracy and convergence characteristics. Then, a hybrid multi stage optimization method is presented merging advantages of PSO and ABC methods in finding damage location and extent. The efficiency of the methods have been examined using two simulated numerical examples, a laboratory dynamic test and a high-rise building field ambient vibration test results. The implemented evolutionary updating methods show successful results in accuracy and speed considering the incomplete and noisy experimental measured data.

Congenital Long QT Syndrome Type 8 Characterized by Fetal Onset of Bradycardia and 2:1 Atrioventricular Block

  • Joo, Donghoon;Lee, Hyoung Doo;Kim, Taehong;Ko, Hoon;Byun, Joung-Hee
    • Neonatal Medicine
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    • v.28 no.1
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    • pp.59-63
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    • 2021
  • An important, albeit rare, cause of fetal bradycardia is long QT syndrome (LQTS). Congenital LQTS is an ion channelopathy caused by mutations in genes encoding cardiac ion channel proteins. Fetal onset of LQTS imposes high risk of life-threatening tachyarrhythmias and sudden cardiac death. Here, we report the case of a female newborn with fetal onset of bradycardia and a 2:1 atrioventricular (AV) block. After birth, a 12-lead electrocardiogram (ECG) revealed bradycardia with QT prolongation of a corrected QT (QTc) interval of 680 ms and pseudo 2:1 AV block. Genetic testing identified a heterozygous Gly402Ser (c.1204G>A) mutation in CACNA1C, confirming the diagnosis of LQTS type 8 (LQT8). The patient received propranolol at a daily dose of 2 mg/kg. Mexiletine was subsequently administered owing to the sustained prolongation of the QT interval and pseudo 2:1 AV block. One week after mexiletine inception, the ECG still showed QT interval prolongation (QTc, 632 ms), but no AV block was observed. There were no life-threatening tachyarrhythmias in a follow-up period of 13 months.

Review of Potential Import Restrictions by Japan on Korean Fishery Products - A Focus on Radionuclides Dispute between Korea and Japan - (일본의 한국산 수산물 수입규제 가능성 검토 - 한·일 방사능 분쟁을 중심으로 -)

  • Lim, Byeong-Ho;Hong, Suk-Gu;Yoo, Jin-Hee
    • Korea Trade Review
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    • v.44 no.6
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    • pp.119-134
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    • 2019
  • This study focuses on a recent WTO SPS dispute related to Korea Import Bans and Testing and Certification Requirements for Radionuclides (DS495) in order to learn from the case and take proactive measures to prevent potential import restrictions by Japan on Korean seafood. Korean-Radionuclides (Japan) emphasizes the importance of sufficient scientific evidence, especially scientific information from relevant international organizations, in an effort to take preventive measures towards Japan's restrictions on Korean seafood imports. Japan claims that a novel parasite, Kudoa septempuctata, in Korean flatfish causes food poisoning. As food poisoning is a serious concern, there is a low possibility that Japan's enhanced monitoring measures would be more trade restrictive than required as prescribed in Article 5.6 of the WTO SPS Agreement. In addition, Korea is the biggest exporter of olive flounder to Japan. Hence, the possibility that similar conditions could be established is low in relation to non-discriminatory principles under the WTO SPS Agreement. Accordingly, we should collect relevant scientific evidence, improve domestic sanitary management of fishery products, and seek export diversification so that we prepare for potential import restrictions by Japan and minimize implications.

Experiential treatment of ankylosing spondylitis using Ortho-Cellular Nutrition Therapy (OCNT)

  • Baek, Kyungsin
    • CELLMED
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    • v.12 no.3
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    • pp.14.1-14.2
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    • 2022
  • Currently, a 70-year-old woman started suffering from S.I joint pain from 1973 and had severe pain in the S.I joint, wrist, and elbow from 1975 to 1977, and was diagnosed with spinal tuberculosis at a general hospital. From 1978 to 1987, she suffered from chronic fatigue and insomnia, and since January 1, 1988, she was unable to get up while lying down, suffering from whole body joint, muscle pain, and fibromyalgia. In May 1989, she was also diagnosed with ankylosing spondylitis through genetic testing at the Catholic St. Mary's Hospital Rheumatology Department in Korea, and was treated with sulfasalazine, analgesic, and immunosuppressant, methotrexate, for 12 years until 1999, but none of the drugs eliminated the pain. She was hospitalized and discharged repeatedly, and continued to receive salt water poultice and exercise therapy at home, but was unable to move at all. In 2000, after biologic treatment with Remicade injection (Remsima®), she was able to walk and move, and after that, she was continuously prescribed biologics. From 2015 to 2019, Enbrel® (Etanercept) injection was prescribed once a week, but the symptoms such as severe pain (joint and muscle, fibromyalgia), scleroderma, Sjogren's syndrome (dryness of eyes, nose and mouth), difficulty swallowing, chronic fatigue, and stiff body appeared. Around January 2018, hepatic indicators were high and lymphocytes became enlarged. However, most serious injuries were highly improved after the OCNT combination therapy using active phytonutrients, anthocyanin-fucoidan nanocomplex. Therefore, for patients with such experiences, OCNT treatment is proposed as an alternative.

Molecular Pathology of Gastric Cancer

  • Kim, Moonsik;Seo, An Na
    • Journal of Gastric Cancer
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    • v.22 no.4
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    • pp.273-305
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    • 2022
  • Gastric cancer (GC) is one of the most common lethal malignant neoplasms worldwide, with limited treatment options for both locally advanced and/or metastatic conditions, resulting in a dismal prognosis. Although the widely used morphological classifications may be helpful for endoscopic or surgical treatment choices, they are still insufficient to guide precise and/or personalized therapy for individual patients. Recent advances in genomic technology and high-throughput analysis may improve the understanding of molecular pathways associated with GC pathogenesis and aid in the classification of GC at the molecular level. Advances in next-generation sequencing have enabled the identification of several genetic alterations through single experiments. Thus, understanding the driver alterations involved in gastric carcinogenesis has become increasingly important because it can aid in the discovery of potential biomarkers and therapeutic targets. In this article, we review the molecular classifications of GC, focusing on The Cancer Genome Atlas (TCGA) classification. We further describe the currently available biomarker-targeted therapies and potential biomarker-guided therapies. This review will help clinicians by providing an inclusive understanding of the molecular pathology of GC and may assist in selecting the best treatment approaches for patients with GC.

Desmopressin responding female nephrogenic diabetes insipidus: a case report

  • Juyeon Lee;Hae Il Cheong;Jung Won Lee;Ki Soo Pai
    • Childhood Kidney Diseases
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    • v.26 no.2
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    • pp.107-110
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    • 2022
  • Nephrogenic diabetes insipidus, decreased ability to concentrate urine, with production of large amounts of urine, is caused by the refractory response of renal tubules to the action of antidiuretic hormone. This rare disorder, known as X-linked nephrogenic diabetes insipidus, is caused by a mutation in the AVPR2 gene. Because it is hereditary, most patients are male. This report highlights a case of nephrogenic diabetes insipidus in a 3-year 5-month-old female; upon presentation to the hospital, her symptoms included frequent urinationand consumptionof a significant amount ofwater,which had begun2 years ago. The results of blood tests showed increased levels of serum antidiuretic hormone, and sellar magnetic resonance imaging showed no abnormality. The results of the water restriction test and the desmopressin administration test confirmed the diagnosis of nephrogenic diabetes insipidus showing a partial response to desmopressin. The results of genetic testing indicated the presence of an AVPR2 mutation, a heterozygous missense mutation (p.Val88Met), suggesting inheritance of X-linked nephrogenic diabetes insipidus. This report describes a significant case of symptomaticX-linked nephrogenic diabetes insipidus in a female patient who showed a partial response to desmopressin.

Current status and future of gene engineering in livestock

  • Dong-Hyeok Kwon;Gyeong-Min Gim;Soo-Young Yum;Goo Jang
    • BMB Reports
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    • v.57 no.1
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    • pp.50-59
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    • 2024
  • The application of gene engineering in livestock is necessary for various reasons, such as increasing productivity and producing disease resistance and biomedicine models. Overall, gene engineering provides benefits to the agricultural and research aspects, and humans. In particular, productivity can be increased by producing livestock with enhanced growth and improved feed conversion efficiency. In addition, the application of the disease resistance models prevents the spread of infectious diseases, which reduces the need for treatment, such as the use of antibiotics; consequently, it promotes the overall health of the herd and reduces unexpected economic losses. The application of biomedicine could be a valuable tool for understanding specific livestock diseases and improving human welfare through the development and testing of new vaccines, research on human physiology, such as human metabolism or immune response, and research and development of xenotransplantation models. Gene engineering technology has been evolving, from random, time-consuming, and laborious methods to specific, time-saving, convenient, and stable methods. This paper reviews the overall trend of genetic engineering technologies development and their application for efficient production of genetically engineered livestock, and provides examples of technologies approved by the United States (US) Food and Drug Administration (FDA) for application in humans.

Feature Variance and Adaptive classifier for Efficient Face Recognition (효과적인 얼굴 인식을 위한 특징 분포 및 적응적 인식기)

  • Dawadi, Pankaj Raj;Nam, Mi Young;Rhee, Phill Kyu
    • Proceedings of the Korea Information Processing Society Conference
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    • 2007.11a
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    • pp.34-37
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    • 2007
  • Face recognition is still a challenging problem in pattern recognition field which is affected by different factors such as facial expression, illumination, pose etc. The facial feature such as eyes, nose, and mouth constitute a complete face. Mouth feature of face is under the undesirable effect of facial expression as many factors contribute the low performance. We proposed a new approach for face recognition under facial expression applying two cascaded classifiers to improve recognition rate. All facial expression images are treated by general purpose classifier at first stage. All rejected images (applying threshold) are used for adaptation using GA for improvement in recognition rate. We apply Gabor Wavelet as a general classifier and Gabor wavelet with Genetic Algorithm for adaptation under expression variance to solve this issue. We have designed, implemented and demonstrated our proposed approach addressing this issue. FERET face image dataset have been chosen for training and testing and we have achieved a very good success.