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Exome and genome sequencing for diagnosing patients with suspected rare genetic disease

  • Go Hun Seo;Hane Lee
    • Journal of Genetic Medicine
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    • v.20 no.2
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    • pp.31-38
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    • 2023
  • Rare diseases, even though defined as fewer than 20,000 in South Korea, with over 8,000 rare Mendelian disorders having been identified, they collectively impact 6-8% of the global population. Many of the rare diseases pose significant challenges to patients, patients' families, and the healthcare system. The diagnostic journey for rare disease patients is often lengthy and arduous, hampered by the genetic diversity and phenotypic complexity of these conditions. With the advent of next-generation sequencing technology and clinical implementation of exome sequencing (ES) and genome sequencing (GS), the diagnostic rate for rare diseases is 25-50% depending on the disease category. It is also allowing more rapid new gene-disease association discovery and equipping us to practice precision medicine by offering tailored medical management plans, early intervention, family planning options. However, a substantial number of patients remain undiagnosed, and it could be due to several factors. Some may not have genetic disorders. Some may have disease-causing variants that are not detectable or interpretable by ES and GS. It's also possible that some patient might have a disease-causing variant in a gene that hasn't yet been linked to a disease. For patients who remain undiagnosed, reanalysis of existing data has shown promises in providing new molecular diagnoses achieved by new gene-disease associations, new variant discovery, and variant reclassification, leading to a 5-10% increase in the diagnostic rate. More advanced approach such as long-read sequencing, transcriptome sequencing and integration of multi-omics data may provide potential values in uncovering elusive genetic causes.

Development of the Hospital Nurses' Silence Behavior Scale (병원 간호사의 침묵 행위 측정도구 개발)

  • Chung, Soojin;Hwang, Jee-In
    • Journal of Korean Academy of Nursing
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    • v.54 no.2
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    • pp.279-295
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    • 2024
  • Purpose: This study aimed to develop a scale to measure hospital nurses' silence behavior and examine its validity and reliability. Methods: A total of 52 preliminary items on hospital nurses' silence behavior were selected using a content validity test by seven experts on 53 candidate items derived from a literature review and in-depth interviews with 14 nurses. A total of 405 hospital nurses participated in a psychometric testing. Data analysis comprised item analysis, exploratory and confirmatory factor analyses, and convergent and discriminant validity tests. Pearson's correlation coefficient was used for assessing concurrent validity, and Cronbach's alpha was used for the reliability test. Results: The final scale consisted of nine factors with 31 items, exhibiting acceptable model fit indices, convergent validity, and discriminant validity. The score of the entire scale was positively correlated with the 'Organizational Silence Scale (OSS)-the issues on which nurses remain silent' (r = .60, p < .001) and 'OSS-the reasons why nurses remain silent' (r = .68, p < .001). Cronbach's α of the scale was .92, and α of each subscale ranged from .71 to .90. Conclusion: The Hospital Nurses' Silence Behavior Scale is a useful tool for assessing multifaceted silence behavior among nurses. It can provide basic data for developing better communication strategies among nurses and other hospital staff.

How Long Will Your Videos Remain Popular? Empirical Study with Deep Learning and Survival Analysis

  • Min Gyeong Choi;Jae Hong Park
    • Asia pacific journal of information systems
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    • v.33 no.2
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    • pp.282-297
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    • 2023
  • One of the emerging trends in the marketing field is digital video marketing. Online videos offer rich content typically containing more information than any other type of content (e.g., audible or textual content). Accordingly, previous researchers have examined factors influencing videos' popularity. However, few studies have examined what causes a video to remain popular. Some videos achieve continuous, ongoing popularity, while others fade out quickly. For practitioners, videos at the recommendation slots may serve as strong communication channels, as many potential consumers are exposed to such videos. So,this study will provide practitioners important advice regarding how to choose videos that will survive as long-lasting favorites, allowing them to advertise in a cost-effective manner. Using deep learning techniques, this study extracts text from videos and measured the videos' tones, including factual and emotional tones. Additionally, we measure the aesthetic score by analyzing the thumbnail images in the data. We then empirically show that the cognitive features of a video, such as the tone of a message and the aesthetic assessment of a thumbnail image, play an important role in determining videos' long-term popularity. We believe that this is the first study of its kind to examine new factors that aid in ensuring a video remains popular using both deep learning and econometric methodologies.

Analysis of suicide statistics and trends between 2011 and 2021 among Korean women

  • Hyunjung Jang;Seokmin Lee;Sanghee Park;Bobae Kang;Hyunkyung Choi
    • Women's Health Nursing
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    • v.29 no.4
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    • pp.348-356
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    • 2023
  • Purpose: This study aims to analyze the number of suicide deaths in women, trends in suicide mortality, characteristics of suicide by age, and outcomes of suicide means over the past decade (2011-2021) in South Korea. Methods: Using cause of death data from Statistics Korea, an in-depth analysis of Korean women's suicide trends was conducted for the period of 2011-2021. Results: In 2021, women's suicide death in Korea was 4,159, a rate of 16.2 per 100,000 population. The rate increased by 1.4% from the previous year. Since 2011, women's suicide rate has been on a steady downward trend, but since 2018, it has been on the rise again. Suicide rates among women in their 20s and 30s have increased, especially since the coronavirus disease 2019 pandemic, and suicide rates among women over 70 years remain high. As compared to 2011, pesticide poisoning and hanging among the means of suicide have decreased significantly, while drug and carbon monoxide continue to increase. Conclusion: Suicide rates for Korean women in their 20s and 30s have increased significantly in recent years, and those for women over 70 years remain high. Therefore, it is necessary to investigate the causes and establish national policies for targeted management of these age groups, which contributes significantly to the rising suicide rate among Korean women.

The prevalence and prevention strategies of pediatric obesity: a narrative review

  • Mi Seon Lee
    • Journal of Yeungnam Medical Science
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    • v.41 no.3
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    • pp.141-149
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    • 2024
  • Pediatric obesity has rapidly increased globally over the past few decades, including in Korea. We aimed to discuss trends in the prevalence of pediatric obesity and effective prevention strategies. Its prevalence has markedly increased in most high-income nations. According to recent reports, this increase has slowed in developed countries, but the levels remain alarmingly high. In Korea, the rate of pediatric obesity has surged notably since the 1990s; however, since the 2000s, this increase has become more gradual. According to recently published 2017 growth charts, the prevalence of pediatric obesity in Korea varies slightly depending on the data source. The National School Health Examination data showed that pediatric obesity gradually increase from 11.5% in 2014 to 15.1% in 2019, and after the coronavirus disease 2019 pandemic, it sharply increased to 19% in 2021. Based on data from the Korea National Health and Nutrition Examination Survey, the prevalence of pediatric obesity gradually increased from 10.8% in 2017 to 13.6% in 2019. This trend, which accelerated sharply to 15.9% in 2020 and 19.3% in 2021, was especially severe in boys and older children. Pediatric obesity not only affects health during childhood but also increases the risk of developing obesity and associated health conditions in adulthood. Despite ongoing research on treatment options, obesity prevention and control remain challenging. Hence, prioritizing early intervention and prevention of pediatric obesity through healthy eating habits and lifestyles is crucial. This requires intervention at the individual, family, school, and community levels.

Angiogenic Responce to Transmyocardial Mechanical Reveascularization(TMMR) with Polymer Myocardial Stent (고분자 중합체 심근 스템트를 이용한 기계적 경심근 혈류재건술의 혈관생성 반응)

  • Choi, Ho;Lee, Cheol-Joo;Moon, Kwang-Deok;Kim, Young-Jin;Kang, Joon-Kyu;Hong, Jun-Wha;Jee, Kyung-Soo;Han, Man-Jung;Cho, Sang-Ho
    • Journal of Chest Surgery
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    • v.33 no.6
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    • pp.494-501
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    • 2000
  • Background: Transmyocardial laser revascularization(TMLR) for revascularizing ischemic myocardium in patients was originally based on the assumption that laser channels remain their patency much longer. But recent studies show that laser channels did not remain open and that TMLR could achieve treatment benefits without long-term channel patency. The angiongencesis is currently thought to be induced by non-specific inflammatory response to mechanical tissue injury. This study is to evaluate hypothesis that various transmyocaridal mechanical revascularization(TMMR) may induce the angiogenic responses similar to that seen with TMLR, and transmyocaridal polymer stent revascularization(TMSR), the polymer stent in the myocardial tissue is hydrolyzed in 2 weeks, may enhance the non-specific inflammatory reaction resulting angiogenesis. Furthermore, polymer myocaridal stent channels remain long-term patency. Material and Method: Eight domestic pigs underwent ligation of the proximal circumflex artery, and 2 weeks later they were randomized to undergo transmycardial acupunctural revascularization (TMPR, Group I) of the left lateral wall with 18-G needle(n=2), to undergo transmyocardial (TMDR, Group II) with industrial 2mm steel drill(n=2), to undergo transmyocardial polymer stent revascularization (TMSR, Group III) after drilling the infarcted myocardium(n=2), the stent is poly(lactic acid-co-glycolic acid), which is self-degradated in the myocardium, and to a control group the ischemic zone was unterated(n=2). All the pigs were sacrificed after 4 weeks TMMR. Sections from the ischemic zone were submitted for vascular endothelial growth factor (VEGF) ELISA and histology. Result: There were makedly increase in the VEGF immunoassay in the ischemic zone of the TMMR group compared to the ischemic zone of the control group(control: each 30.85 and 43.15pg/mg protein, TMPR: each 44.14 and 68.61 pg/mg protein, TMDR: each 65.92 and 78.65 pg/mg protein, TMSR: each 177.39 and 168.87 pg/mg protein). TMSR channels caused greatest VEGF expression than channels made by other group and the polymer stent channels remained vacuole after 4 weeks. Conclusion: Transmyocardial polymer stent revascularization promoted the most angiogenci response by the VEGF immunoassay, although our study did not show the statistical significancy. The channels remained but the flow patency was not verified. Transmyocardial polymer stent revascularization (TMSR) is desirable in future experimental trials and in view of the significant cost implications comparable to that of laser.

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An Architectural Study on the Building Remains at the Site of Beopsusa Temple in Seongju - With a focus on the remains of Buildings No.2 and 3 - (성주 법수사지 건물지에 대한 건축적 고찰 - 2호, 3호 건물지를 중심으로 -)

  • Hyun, Seung-Wook
    • Journal of the Regional Association of Architectural Institute of Korea
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    • v.20 no.6
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    • pp.131-137
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    • 2018
  • The two recent excavations at the site of Beopsusa Temple in Seongju revealed that it contained eight building remains, three pedestrian facilities, four drainage facilities, two walls, three embankments, and an estimated pagoda remain. Even though this investigation was restricted to some sections of the site, it confirmed remains of architectural significance and thus attracted the attention of concerned researchers. This study thus set out to make an architectural survey of the site based on the excavation results and examine the characteristics and nature of remains of Buildings No.2 and 3 at the site. The planar analysis results show that Building No.2 (Remains 2-2) at the site of Beopsusa Temple was a gable-roofed building with a single story including 6 kan(間) in the front and 4 kan(間) in the flank and that Building No.3 (Remains 3-3) was a single-story building with a hipped-and-gable roof including 5 kan(間) in the front and 3 kan(間) in the flank. The most noteworthy remain of this excavation was the north-south square platform discovered at the Building No.2 at the site. It is estimated as a high chair platform used for Buddhist sermons. It was confirmed only at the lecture hall remains of Hwangnyongsa Temple and Anyangsa Temple in the nation and had never been found at remains related to Chinese and Japanese Buddhist Temples, being regarded as a very important and unique artifact. Since it was found at the remains of Building No.2, they was estimated as the lecture hall remain at the site. Found at the remains of Building No.3 at the site, the oblong altar remains were also very unique and rare and never found at other Buddhist temple sites. The inside of oblong altar was evenly covered with roof tiles instead of rubble, and there were small crushed stones for internal division, which is an altar construction method distinctly different from its counterparts at other Buddhist temple sites. Those findings raise the possibility high that a wooden facility was put up at the top of oblong remains.

A Basic Study on the Comparison for Restoration with 3×2 Kan Central Hall Remains and Extant Hall of Buddhist Temple in Joseon Dynasty (조선시대 3×2칸 주불전지 복원을 위한 현존 주불전과의 평면 계획비교에 관한 기초연구)

  • Kim, Hwan-Chol;An, Dai-Whan
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.19 no.12
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    • pp.340-352
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    • 2018
  • This study presents a method to find the extant central halls with the plan most similar to the remains and to find out and compare the architectural style of extant buildings for the restoration. In the Joseon dynasty, there existed both remains and the extant hall. In particular, the $3{\times}2Kan$ hall is the minimum size that functions as the hall, so the number of comparison articles is small. The subjects are three remains and 29 Extant Halls. The absolute size of the comparison articles are the Area, Ratio of front/side, and the relative sizes are the Ratio of front Eokan/Hyeopkan and Ratio of the front Eokan/the side row. The Daeungjeon remain in Bugjijangsa is similar in absolute size and relative sizes to Oeosa daeungjeon. The Bubdang remain in Seonchalsaji is similar to Sangwonsa daeungjeon in the Area and Ratio of front/side, and similar to Daejeogsa geungnakjeon in the Ratio of front/side and Ratio of front Eokan/Hyeopkan. The Bubdang remain in Seungseonsaji is similar to Seodongsa daeungjeon in the Area, Ratio of front Eokan/Hyeopkan and Ratio of the front Eokan /the side row. Consequently, this method has high value as a way to expand by other comparison articles.

Athermalized Polymeric Arrayed-Waveguide Grating by Partial Detachment from a Si Substrate

  • Lee, Jong-Moo;Ahn, Joon-Tae;Park, Sun-Tak;Lee, Myung-Hyun
    • ETRI Journal
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    • v.26 no.3
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    • pp.281-284
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    • 2004
  • We demonstrate a new fabrication method for adjusting the temperature dependence of a polymeric arrayed-waveguide grating (AWG) on a Si substrate. A temperature-dependent wavelength shift of-0.1nm/$^{\circ}C$ in a polymeric AWG on a Si substrate is reduced of+0.1nm/$^{\circ}C$ by detaching part of the polymer film, including the grating channel region of the AWG, from the Si substrate while the other parts remain fixed on the substrate.

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General Relativity and Light Bending/Gravitational Lensing (일반상대성이론과 빛의 꺾임/중력렌즈)

  • Park, Myeong-Gu
    • The Bulletin of The Korean Astronomical Society
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    • v.40 no.1
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    • pp.57.4-57.4
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    • 2015
  • Light bending by gravity was the key prediction of general relativity. Solar eclipse expedition of 1919 provided the observational support for the theory of general relativity. Diverse gravitational lensing, i.e., light bending, phenomena have been speculated and predicted by general relativity and ultimately discovered many years later. Gravitationally lensed quasars, luminous arcs, weak lensing, and microlensing have provided invaluable information about the distribution of matter, especially of dark matter, and the cosmology. Gravitational lensing is one of the most spectacular manifestation of general relativity and will remain as an extremely useful astrophysical tools in the future.

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