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Prospective evaluation of the clinical utility of whole-exome sequencing using buccal swabbing for undiagnosed rare diseases

  • Chong Kun Cheon;Yong Beom Shin;Soo-Yeon Kim;Go Hun Seo;Hane Lee;Changwon Keum;Seung Hwan Oh
    • Journal of Genetic Medicine
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    • v.19 no.2
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    • pp.76-84
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    • 2022
  • Purpose: Whole-exome sequencing (WES) has been a useful tool for novel gene discovery of various disease categories, further increasing the diagnostic yield. This study aimed to investigate the clinical utility of WES prospectively in undiagnosed genetic diseases. Materials and Methods: WES tests were performed on 110 patients (age range, 0-28 years) with suspected rare genetic diseases. WES tests were performed at a single reference laboratory and the variants reported were reviewed by clinical geneticists, pediatricians, neurologists, and laboratory physicians. Results: The patients' symptoms varied with abnormalities in the head or neck, including facial dysmorphism, being the most common, identified in 85.4% of patients, followed by abnormalities in the nervous system (83.6%). The average number of systems manifesting phenotypic abnormalities per patient was 3.9±1.7. The age at presentation was 2.1±2.7 years old (range, 0-15 years), and the age at WES testing was 6.7±5.3 years (range, 0-28 years). In total, WES test reported 100 pathogenic/likely pathogenic variants or variants of uncertain significance for 79 out of 110 probands (71.8%). Of the 79 patients with positive or inconclusive calls, 55 (50.0%) patients were determined to have good genotype-phenotype correlations after careful review. Further clinical reassessment and family member testing determined 45 (40.9%) patients to have been identified with a molecular diagnosis. Conclusion: This study showed a 40.9% diagnostic yield for WES test for a heterogeneous patient cohort with suspected rare genetic diseases. WES could be the feasible genetic test modality to overcome the diversity and complexity of rare disease diagnostics.

The relationship between the personality types and satisfaction of education in dental hygiene students (일부 치위생(학)과 학생의 성격유형과 교육만족도의 관련성)

  • Kim, Chang-Suk;Cheon, Sae-Hee;Cho, Mi-Suk
    • Journal of Korean society of Dental Hygiene
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    • v.14 no.6
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    • pp.943-949
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    • 2014
  • Objectives: The purpose of the study is to investigate the relationship between the personality types and satisfaction of education satisfaction in dental hygiene students. Methods: A self-reported questionnaire was filled out by 898 students in Busan, Gyeongnam, and Ulsan from March 2 to 25, 2014. Data were analyzed through t-test, correlation analysis, and multiple regression analysis. The instruments used personality types and satisfaction of education. The personality types was adapted from Korean Eyesenck Personality Questionnaire that was modified by Lee on the basis of Eysenck Personality Questionnaire(Eysenck & Eysenck, 1971). The questionnaire consisted of 44 questions including extroversion factors(18 questions) and neurotic tendency(26 questions). The questionnaire was score by Likert 5 scale. Cronbach alpha was 0.835 in the study. The neurotic tendency consisted of 26 questions and the higher score showed the higher neurotic tendency. Cronbach alpha was 0.927 in the study. The instrument for satisfaction of education was adapted from Kim and Go and partly modified. The instrument was categorized into dental hygiene department satisfaction(6 questions), major satisfaction(6 questions), facilities satisfaction(4 questions), lecture satisfaction(7 questions), and faculty satisfaction(4 questions). The instrument was scored by Likert 5 scale. Cronbach alpha of education satisfaction was 0.928 in the study. Results: Extroverted students showed 3.70 point which was the highest score in the department satisfaction(p<0.001). Less neurotic students showed 3.68 point which was the highest score in the department satisfaction(p<0.001). There was a strong positive correlation between the major satisfaction and department satisfaction(p<0.01). The personality types that affected the education satisfaction were related to the extroverted students and less neurotic students(p<0.01). Conclusions: The personality types had much influences on the satisfaction of the major and academic accomplishment.

A Study on the Awareness of Applying Blockchain to the Fisheries (수산분야 블록체인기술 도입에 관한 인식도 연구)

  • Go, Dong-Hun;Kim, Jong-Cheon
    • The Journal of Fisheries Business Administration
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    • v.52 no.1
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    • pp.65-82
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    • 2021
  • This study utilizes the IPA (Importance-Performance Analysis) method to assess the importance, possibility, and urgency of using blockchain technology for fisheries sectors and the related policies. Based on a field survey targeting experts and stakeholders in the fisheries and blockchain technology sectors, the following major results and corresponding implications are drawn. First of all, the respondents of our survey have an outlook that the introduction and utilization of blockchain will be required in four major parts. These parts include i) the seafood' information system managed by the government or public institutions, ii) traceability and certification process for domestic and foreign seafoods, iii) meeting the need of seafood safety from consumers, and iv) taking prompt actions to seafood safety related accidents. Next, the seafood information system managed by the government or public institutions has been limited in maintaining information consistency and continuity once the fisheries ministries and departments are integrated, closed or partially transferred. Thus, it is assessed that the technology will be able to improve consistency and continuity of the seafood information in case of applying blockchain to the seafood information management system. This result that blockchain is necessary for the seafood information system have a significant implication in Korea's seafood management which has been independently controlled until now. Lastly, the application of blockchain to seafood traceability and certification systems has the most well-known cases through international and domestic pilot projects, and the results of our survey reflect this reality. Our results contribute to showing an additonal characteristics of blockchain in the fisheries sector, resulting in the possiblity that blockchain can be used for taking swift steps in the event of seafood safety accidents and meeting the need of seafood consumers for safety.

An Analysis of Formation Process and Construction of Space in Sorok-Island Leprosy Villages (소록도 한센마을의 형성과정 및 공간구성에 관한 연구)

  • Yang, Ga-Yeong;Cheon, Deuk-Youm;Choi, Jeong-Mi
    • Journal of the Architectural Institute of Korea Planning & Design
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    • v.34 no.8
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    • pp.105-116
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    • 2018
  • The architecture reflects geographical characteristics such as geographical environments and climate, it has the characteristics and cultural characteristics of the region that has been constructed. Hansen Village constructed in Period of Japanese Occupation at 'Sorok-Island' in Go-heung, Jeollanam-do was also based on this point. The village, which is a ward of Sorok-Island Province, consists of a village in which patients are self-sufficient in economic and social activities, unlike the modern hospital systems where patients and treatments are concentrated in a single room. Additionally, the facilities for patient acceptance were gradually expanded, with limited interaction with external. Sorok-island shows the expansion of the village center where the new village is formed with the increase of the number of the early adopters in the 1910s and the accommodation facility is built, and it gradually increases the necessary space by opening and repairing the existing facilities by the 1990s Change. In addition, the spatial composition of the village can be divided into three types : decentralized, centralized and single-shift ; it has the same causal relationship as the village's formation. The purpose of this study is identifying the uniqueness of Sorok-Island by analyzing the correlation between the formation of a village to accommodate Hansen Patients in Sorok-Island and the spatial Component Factor.

Genome-wide Expression Profiling of Piperine and Piper nigrum Linne (호초(胡椒)와 Piperine에 의한 총체적 유전자 발현 비교)

  • Jo, Eun-Young;Jeong, Ji-Cheon
    • Journal of Physiology & Pathology in Korean Medicine
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    • v.24 no.5
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    • pp.831-836
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    • 2010
  • In addition to spice, black pepper (Piper nigrum Linne : PnL) has been used as herbal medicine because of its function in anti-oxidation, anti-inflammation, and anti-carcinogenesis. Recently, it has been reported that piperine, a component of PnL, inhibits adipocyte differentiation by repressing various adipogenic gene expressions. In this study, we determined whether piperine is a major constituent of PnL that confers the anti-adipogenic activity at whole genome level. Differentiation of 3T3-L1 pre-adipocytes was induced in presence of PnL extract or piperine. To compare genes that are regulated by PnL extract or piperine, we performed expression profiling using microarrays (Agilent Mouse 44k 4plex). RNA samples were labeled with Cy3 and Cy5, respectively. Labeled samples were hybridized to the microarrays. Results were filtered and cut off set p<0.05. Genes exhibiting significant differences in expression level were classified into Gene Ontology (GO)-based functional categories (http://www.geneontology.org) and KEGG (http://www.genome.jp/kegg/). Extract of PnL and its component piperine reduced lipid accumulation in 3T3-L1 cells during adipogenesis. Such anti-adipogenic activity appears to result from down-regulation of transcription factor genes involved in adipogenesis, and other genes involved in fatty acid synthesis, transport, triglyceride synthesis, and carbohydrate metabolism. These genome-wide studies lead to conclude that piperine, as a critical component of PnL, plays common role with PnL in anti-adipogenesis.

On the Suitable Shape of Bottom for the Application of Air Cavity on Hull Bottom to the Practical Hull Form (선저부 공기공동을 이용한 실선선형의 저항성능 개선을 위한 선저형상 개량연구)

  • Seok-Cheon Go;Hyo-Chul Kim
    • Journal of the Society of Naval Architects of Korea
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    • v.36 no.3
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    • pp.1-7
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    • 1999
  • This paper describes the modification of hull bottom for the air lubrication technique to the passenger boat in service at the Chung-Ju lake, which has a large beam-draft ratio. From numerical analysis of 2-D cavity problem by potential theory, the cavity shape, length and the pressure in cavity are estimated for the simplified geometry of hull bottom, and the non-dimensional parameters affecting air cavity phenomena are investigated. Extensive resistance tests for the model ship which has variation of step height and side strip have been performed to investigate the formation of air cavity and the drag reduction effectiveness. And also, the development of attached cavity to the bottom were observed from the flat bottom made by transparent acrylic plate. From this survey on the modification of bottom shape and the air lubrication technique, the total resistance of model ship could be reduced by about 25% at the design speed compared to the proto type hull form.

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The literatual study on Pulmonary emphysema (폐기종(肺氣腫)의 한의학적(韓醫學的) 병인(病因) 병리(病理) 및 치료(治療)에 관(關)한 문헌적(文獻的) 고찰(考察))

  • Seo, Woon-Kyo;Jeong, Ji-Cheon
    • The Journal of Internal Korean Medicine
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    • v.16 no.1
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    • pp.81-103
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    • 1995
  • Study on Pulmonary emphysema based on literature and thesis, etc. Knowing the cause of the oriental medicine and treatment. The results were obtained as follows: 1. In the oriental medicine, we could find that emphysema was similiar to Pye-Chang, Huh-Chun. Sang-Qi, Dan-Qi, So-Qi. 2. The cause was divided to asthenia of the lung and kidney, yang-asthenia of the spleen and kidney with energy-asthenia of the lung as the root, and sputum(痰) had been important in the early period of disease, extravasated blood in the latter period. The proximate cause was clonic pulmonary disease, smoking, air pollution. occupation and symptoms of senility, congenital cause etc. 3.The treatment was divided to Gang-Qi-Wha-Dam, Whal-Hyul-Wha-Eo, Jin-Hae-Pyung-Chun in progress of disease and it was divided to Geon-Bi, Nab-Qi, On-Yang, Yang(養)-Eum, Qi-Eum-Ssang-Bo in relieve period. 4.The medicine used to Bu-Bi-Seng-Maek-San, Jo- Jung-Ik-Qi-Tang, Jung-Won-Eum, Geum-Guae-Sin-Qi-Whan, Jin-Mu-Tang, Yuk-Mi-Whan and So-ja-Gang-Qi-Tang, Pae-Mo-Tang, Ja-Won-Tang, Do-Dam-Tang, Chun-min-Tang, Jeon-Ho-Tang etc. The popular used medicine used to Bo-Pae-Tang, Pyung-Chun-Go-Bon-Tang, In-Sam-Hap-Gae-San-Ga-Gam, In-Sam-Yun-Pae-Won, Jung-Chun-Tang, Bo-Shin-Lee-Pae-Tang etc. Exogenous pathogenic fact and increasing of symptom used to Sam-So-Eum, Sang-Gook-Eum, Wol-Bi-Ga-Ban-Ha-Tang, Sa-Baek-Tang, Ma-Hwang-Tang etc.

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Comparison of Caco-2 and MDCK Cells As an In-Vitro ADME Screening Model (In-Vitro 흡수특성 검색모델로서 Caco-2 및 MDCK 세포배양계의 특성 비교 평가)

  • Go, Woon-Jung;Cheon, Eun-Pa;Han, Hyo-Kyung
    • Journal of Pharmaceutical Investigation
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    • v.38 no.3
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    • pp.183-189
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    • 2008
  • The present study compared the feasibility of Caco-2 and MDCK cells as an efficient in-vitro model for the drug classification based on Biopharmaceutics Classification System (BCS) as well as an in-vitro model for drug interactions mediated by P-gp inhibition or P-gp induction. Thirteen model drugs were selected to cover BCS Class I{\sim}IV$ and their membrane permeability values were evaluated in both Caco-2 and MDCK cells. P-gp inhibition studies were conducted by using vinblastine and verapamil in MDCK cells. P-gp induction studies were also performed in MDCK cells using rifampin and the P-gp expression level was determined by western blot analysis. Compared to Caco-2 cells, MDCK cells required shorter period of time to culture cells before running the transport study. Both Caco-2 and MDCK cells exhibited the same rank order relationship between in-vitro permeability values and human permeability values of all tested model compounds, implying that those in-vitro models may be useful in the prediction of human permeability (rank order) of new chemical entities at the early drug discovery stage. However, in the case of BCS drug classification, Caco-2 cells appeared to be more suitable than MDCK cells. P-gp induction by rifampin was negligible in MDCK-cells while MDCK cells appeared to be feasible for P-gp inhibition studies. Taken all together, the present study suggests that Caco-2 cells might be more applicable to the BCS drug classification than MDCK-cells, although MDCK cells may provide some advantage in terms of capacity and speed in early ADME screening process.

An Empirical Study on Comparative Analysis of Determinants of Management Performance for Domestic Ventures (국내 벤처의 경영성과 영향요인 비교 분석에 관한 실증연구)

  • Lee, Sang-Cheon;Bae, Sung-Moon;Go, Bong-Sang
    • The Journal of Society for e-Business Studies
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    • v.13 no.4
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    • pp.145-159
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    • 2008
  • The purpose of this study is to identify the determinants of new venture performance in the view of integrated research framework and to investigate key determinants of superior and inferior ventures. We propose the integrated new ventures performance model which is composed of entrepreneur, organization/resources, industrial environment, strategy/foundation process and availability of supporting systems as corresponding variables to new ventures performance. The superior venture performance is affected mainly by entrepreneur's managerial ability and industry expertise, but the inferior by resources and management strategy. Though this study has limitation of small sample, limited questionnaire and performance measure, it has contribution of identifying key determinants of new venture performance with the integrated frame of study.

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Korean Medical Treatment of Cognitive Impairments after Traumatic Epidural Hemorrhage: A Case Report (외상성 경막외 출혈 이후 발생한 인지장애에 대한 한방치료 1례)

  • Song, Juyeon;Kim, Youngji;Kim, Hakkyeom;Hong, Seungcheol;Park, Song-won;Ahn, Lib;Jeong, Ji-Cheon
    • The Journal of Internal Korean Medicine
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    • v.40 no.5
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    • pp.920-928
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    • 2019
  • Objectives: After epidural hemorrhage, sequelae may cause cognitive impairments, such as attention, memory, and performance disturbances. This case study reports on the use of traditional Korean medicine in a patient with cognitive impairments after a traumatic epidural hemorrhage. Methods: During the 46-day hospitalization period, traditional Korean medicine treatments, including Sunkihwalhyul-tang-gamibang, Ukgan-san-gajinpibanha Granule, Kyungohk-go, acupuncture, and cupping, were administered. The degree of cognitive impairment was measured based on the Mini Mental State Examination-Korea (MMSE-K), Modified Barthel Index (MBI), and correct answer ratio. Results: After traditional Korean medicine treatment, the MMSE-K score increased from 13 to 19 and the MBI score increased from 63 to 71. The patient's conversations in daily life also proceeded more smoothly than before hospitalization, and the correct answer ratio rose. Conclusion: This case reports the improvement of cognitive impairment after traumatic epidural hemorrhage in response to traditional Korean medicine treatment; further study is needed.