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The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing

  • Choi, Eun Mi;Lee, Dong Hyun;Kang, Seok Jin;Shim, Ye Jee;Kim, Heung Sik;Kim, Joon Sik;Jeong, Jong In;Ha, Jung-Sook;Jang, Ja-Hyun
    • Clinical and Experimental Pediatrics
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    • 제61권12호
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    • pp.403-406
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    • 2018
  • Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, unique facial features, and language impairment. Here, we present a 6-year-old boy with a triangular face, deep-set protruding eyes, low-set ears, wide nose with narrow nasal bridge, short philtrum, long thin lips, clinodactyly, and developmental delay that was transferred to our pediatric clinic for genetic evaluation. He showed progressive delay in the area of language and cognition-adaption as he grew. He had previously undergone chromosomal analysis at another hospital due to his language delay, but his karyotype was normal. We performed targeted exome sequencing, considering several syndromes with similar phenotypes. Library preparation was performed with the TruSight One sequencing panel, which enriches the sample for about 4,800 genes of clinical relevance. Massively parallel sequencing was conducted with NextSeq. An identified variant was confirmed by Sanger sequencing of the patient and his parents. Finally, the patient was confirmed as the first Korean case of Floating-Harbor syndrome with a novel SRCAP (Snf2 related CREBBP activator protein) mutation (c.7732dupT, p.Ser2578Phefs*6), resulting in early termination of the protein; it was not found in either of his healthy parents or a control population. To our knowledge, this is the first study to describe a boy with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing in Korea.

확장 유클리드 알고리즘을 이용한 파이프라인 구조의 타원곡선 암호용 스칼라 곱셈기 구현 (Implementation of a pipelined Scalar Multiplier using Extended Euclid Algorithm for Elliptic Curve Cryptography(ECC))

  • 김종만;김영필;정용진
    • 정보보호학회논문지
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    • 제11권5호
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    • pp.17-30
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    • 2001
  • 본 논문에서는 타원곡선 암호시스템에 필요한 스칼라 곱셈기를 $GF(2^{163})$의 standard basis상에서 구현하였다. 스칼라 곱셈기는 래딕스-16 유한체 직렬 곱셈기와 유한체 역수기로 구성되어 있다. 스칼라 곱셈을 계산하기 위해서는 유한체 곱셈, 덧셈과 역수의 계산이 필요하지만, 기존의 스칼라 곱셈기는 이러한 스칼라 곱셈을 유한체 곱셈기만으로 계산하였으므로 역수를 계산하는데 많은 시간을 소모하였다. 따라서, 본 논문의 중요한 특징은 가장 많은 연산시간을 필요로 하는 역수 연산을 빠르게 계산하기 위해 유한체 역수기를 추가 사용한 것이다. 유한체 역수기는 기존의 많은 구현 사례 중 두 번의 곱셈 시간이 소요되는 확장 유클리드 알고리즘(Extended Euclid Algorithm)을 이용하였다. 본 논문에서 구현한 유한필드 곱셈기와 역수기는 하드웨어 구조가 규칙적이어서 확장성이 용이하고, 파이프라인 구조와 하드웨어 리소스의 재활용을 이용해 계산과정에서 100%의 효율(throughput)을 발휘할 수 있는 구조를 가지고 있다. 스칼라 곱셈기는 현대전자 0.6$\mu\textrm{m}$ CMOS 공정 라이브러리인 IDEC-C631을 이용하여 예측한 결과 최대 140MHz까지 동작이 가능하며, 이때 데이터 처리속도는 64Kbps로 163bit 프레임당 2.53ms 걸린다. 이러한 성능의 스칼라 곱셈기는 전자서명(Digital Signature), 암호화 및 복호화(encryption & decryption) 그리고 키 교환(key exchange)등에 효율적으로 사용될 수 있을 것으로 여겨진다.

Effect of feeding raw potato starch on the composition dynamics of the piglet intestinal microbiome

  • Yi, Seung-Won;Lee, Han Gyu;So, Kyoung-Min;Kim, Eunju;Jung, Young-Hun;Kim, Minji;Jeong, Jin Young;Kim, Ki Hyun;Oem, Jae-Ku;Hur, Tai-Young;Oh, Sang-Ik
    • Animal Bioscience
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    • 제35권11호
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    • pp.1698-1710
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    • 2022
  • Objective: Raw potato starch (RPS) is resistant to digestion, escapes absorption, and is metabolized by intestinal microflora in the large intestine and acts as their energy source. In this study, we compared the effect of different concentrations of RPS on the intestinal bacterial community of weaned piglets. Methods: Male weaned piglets (25-days-old, 7.03±0.49 kg) were either fed a corn/soybean-based control diet (CON, n = 6) or two treatment diets supplemented with 5% RPS (RPS5, n = 4) or 10% RPS (RPS10, n = 4) for 20 days and their fecal samples were collected. The day 0 and 20 samples were analyzed using a 16S rRNA gene sequencing technology, followed by total genomic DNA extraction, library construction, and high-throughput sequencing. After statistical analysis, five phyla and 45 genera accounting for over 0.5% of the reads in any of the three groups were further analyzed. Furthermore, short-chain fatty acids (SCFAs) in the day 20 fecal samples were analyzed using gas chromatography. Results: Significant changes were not observed in the bacterial composition at the phylum level even after 20 d post feeding (dpf); however, the abundance of Intestinimonas and Barnesiella decreased in both RPS treatment groups compared to the CON group. Consumption of 5% RPS increased the abundance of Roseburia (p<0.05) and decreased the abundance of Clostridium (p<0.01) and Mediterraneibacter (p< 0.05). In contrast, consumption of 10% RPS increased the abundance of Olsenella (p<0.05) and decreased the abundance of Campylobacter (p<0.05), Kineothrix (p<0.05), Paraprevotella (p<0.05), and Vallitalea (p<0.05). Additionally, acetate (p<0.01), butyrate (p<0.05), valerate (p = 0.01), and total SCFAs (p = 0.01) were upregulated in the RPS5 treatment group Conclusion: Feeding 5% RPS altered bacterial community composition and promoted gut health in weaned piglets. Thus, resistant starch as a feed additive may prevent diarrhea in piglets during weaning.

인지기능 감퇴가 있는 노인의 이중 과제 보행과 인지기능과의 상관성에 대한 체계적 문헌 고찰 (The Correlation between Gait and Cognitive Function in Dual-task Walking of the Elderly with Cognitive Impairment: A Systematic Literature Review)

  • 신재연;김예진;김지수;민수빈;박재니;배재한;서희은;신희선;유영은;임주영;장지수;조영우;이한숙
    • 대한물리의학회지
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    • 제17권1호
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    • pp.93-108
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    • 2022
  • PURPOSE: This review sought to confirm the correlation between dual-task gait and cognitive function in cognitively impaired and healthy older adults. METHOD: We used four databases (DBs), Pubmed, Cochrane library, Kmbase, and Koreamed. Searches were carried out according to the PICOS method, P (participants) were the elderly (above 65 years) with cognitive decline, I (intervention) was walking with dual tasks, C (control group) comprised the elderly without cognitive decline, O (outcome) was the correlation between gait and cognitive function and S (study) was the cross-sectional study. For the methodological quality assessment of each study, we used the Quality Assessment Tool for Observation Cohort and Cross-Sectional Studies provided by the National Institutes of Health (NIH). RESULTS: A total of 10 articles were included in this systematic review. For the components of gait, we used pace, rhythm, and variability and we observed that mild cognitive impairment mostly causes low gait performance while performing dual tasks. Among the 10 articles, 9 articles studied pace, of which 7 showed significant results. However, 2 were not significant. Also, 1 article that studied rhythm and 3 articles that studied variability showed significant results. The methodological quality of the 10 studies was fair. CONCLUSION: Gait pace was found to have a high correlation between memory, which is a cognitive ability, and overall cognitive function. It was observed that older adults with mild cognitive impairment have reduced gait pace in single-task walking, and further decrease in dual-task gait pace shows the correlation between memory and gait pace during walking.

편두통의 침도 치료에 대한 체계적 문헌고찰 (Effectiveness of Acupotomy for Migraine: A Systematic Review)

  • 전석희;정수민;신정철
    • Korean Journal of Acupuncture
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    • 제40권3호
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    • pp.62-78
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    • 2023
  • Objectives : This study aims to assess the impact of acupotomy on migraine through an examination of clinical studies conducted since 2015. Methods : We conducted a comprehensive search for randomized controlled trials (RCTs) and non-randomized controlled trials (nRCTs) related to acupotomy treatment for migraine, utilizing five Korean online databases (OASIS, Science ON, DBPIA, KISS, RISS), as well as four foreign online databases (CNKI, PubMed, EMBASE, Cochrane Library). We identified a total of 10 relevant studies for analysis. Participants characteristics, treatment points, combination treatments, treatment cycles or frequencies, evaluation indices, efficacy, and adverse events were analyzed. The risk of bias in the 10 RCTs was assessed using the Revised Cochrane risk-of-bias tool for randomized trials (RoB 2.0). Results : A total of 931 participants were included in 10 studies. In the intervention group, the average duration of migraine morbidity ranged from 15.5±4.5 months to 15.9±4.2 years. Six studies based their diagnoses on the International Classification of Headache Disorders (ICHD), while five studies relied on Chinese diagnostic criteria. All studies specified the treatment area as the region exhibiting tenderness or induration on the head and neck. Treatment cycles ranged from a minimum of 2 days to a maximum of 1 week, with the number of days per treatment course varied from 5 days to 4 weeks. The diameter of acupuncture needles used varied between 0.3 mm and 1 mm. Of the eight studies specifying needle length, the shortest was 20 mm, and the longest was 40 mm. A total of eight evaluation indices were employed, with total efficacy rate (TER) and visual analogue scale (VAS) being the most frequently used. Statistically, all intervention groups showed more significant results compared to the control groups. Adverse events were reported in only two studies within the intervention group. Overall, the risk of bias assessment for the selected RCTs ranged from 'some concerns' to 'high risk of bias.' Conclusions : This study showed that acupotomy treatments for migraine were effective.

뇌성마비 아동에게 시지각 중재가 미치는 효과에 대한 체계적 고찰 (A Systematic Review of the Effects of Visual Perception Interventions for Children With Cerebral Palsy)

  • 하예나;채송은;정미연;유은영
    • 재활치료과학
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    • 제12권2호
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    • pp.55-68
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    • 2023
  • 목적 : 본 연구는 뇌성마비 아동에게 시지각 중재를 적용한 연구들에 대해 체계적으로 고찰하여, 시지각중재의 효과에 대해 분석하고자 한다. 연구방법 : 데이터 베이스는 PubMed, EMbase, Science Direct, ProQuest, Koreanstudies Information Service System (KISS), Research Information Sharing Service (RISS), 국회도서관을 사용하였다. 키워드는 뇌성마비, 시지각, cerebral palsy, CP, visual perception을 사용하였다. PRISMA Flowchart에 따라 2012년 1월 1일부터 2022년 3월 30일까지 게재된 연구 중에서 10편을 선정하였다. 선정된 연구들의 질적 수준, 연구 대상자의 인구학적 특성, 중재의 효과, 중재의 영역과 전략, 중재의 효과를 측정하기 위한 평가도구, 비뚤림 위험에 대해 분석하였다. 결과 : 선정된 모든 연구에서 시지각 중재가 시지각 기능 증진에 효과적임을 확인하였다. 또한 시지각중재는 시지각 기능뿐만 아니라 상지기능, 일상생활활동, 자세조절, 목표달성, 심리사회 영역에서도 긍정적인 결과를 나타냈다. 눈-손 협응 영역은 모든 연구에서 중재되었다. 결론 : 시지각 중재 시 시지각 기능을 영역별로 평가하고, 개인별 체계적으로 단계화된 맞춤 중재를 적용해야 한다.

SNS Effect of the negative event on the Firm Performance: Comparison between Pre and Post SNS media appearance

  • Kim, Sang Yong;Lee, Da Eun
    • Asia Marketing Journal
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    • 제16권1호
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    • pp.21-33
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    • 2014
  • When the negative event is published, the company tends to go through the negative impact on the firm performance. Especially, with the SNS, the negative event is instantly spread on indefinite region so the impact seems bigger than the period before the SNS media appearance. It seems that everyone considers the SNS media impact on the firm performance quite big. However, there has been no empirical study on the impact comparison on the firm performance between pre and post SNS media occurrence periods. This study tries to empirically compare the impact of the negative event on the firm performance between pre and post SNS media appearance. Our study starts fromthe basic but not verified question; Does really the negative event have more negative impact in the post-SNS-occurrence period than in the pre-SNS-occurrence period? In order to examine the impact of the negative publicity on firm performance in two eras, pre and post SNS media appearance, we used CAR (Cumulative Abnormal Resturns) model. By using this model, we could verify the statistical significance of cumulative abnormal returns in market between before and after the events. For event samples, we focused on food manufacturers and collected the negative events from 1991 to 2003 for pre-SNS occurrence period, and from 2010 to 2013 for post-SNS occurrence period. Based on the listed food companies at KOSPI, we researched Naver News Library (newslibrary.naver.com) and Naver News (news.naver.com) for all the individual negative events published for both periods. Firm returns data were collected from TS 2000 (KOCO Info) and market portfolio data were collected from KRX Exchange. Through our empirical analysis, our finding is interesting to note that the type of events differently influences on the firm performance. With the SNS, the health-related events have influence on the firm performance 'after the event day' whereas the company behavior trust events have influence 'before the event day'. Our findings have implications for management. When a negative event directly related to or threatening customers or their life such as health, it is crucial to fix up the situation right after the event occurs. On the other hand, when a negative event is not publicly available information such as company behavior trust, it is important for marketers to strengthen the firms' trust reputation and control the bad WOM before the event.

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Influence of the root canal filling technique on the success rate of primary endodontic treatments: a systematic review

  • Daniel Feijolo Marconi ;Giovana Siocheta da Silva ;Theodoro Weissheimer;Isadora Ames Silva ;Gabriel Barcelos So;Leonardo Thomasi Jahnke ;Jovito Adiel Skupien ; Marcus Vinicius Reis So ; Ricardo Abreu da Rosa
    • Restorative Dentistry and Endodontics
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    • 제47권4호
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    • pp.40.1-40.18
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    • 2022
  • Objectives: This study aimed to investigate the influence of different obturation techniques compared to cold lateral compaction on the success rate of primary non-surgical endodontic treatments. Materials and Methods: Systematic searches were performed for studies published up to May 17th, 2022 in MEDLINE/PubMed, Cochrane Library, Web of Science, Scopus, EMBASE, and Grey Literature Reports. Randomized clinical trials and nonrandomized (nonrandomized clinical trials, prospective or retrospective) studies that evaluated the success rate of primary non-surgical endodontic treatments obturated with the cold lateral compaction (control) and other obturation techniques were included. The revised Cochrane risk of bias tools for randomized trials (RoB 2) and nonrandomized studies of interventions (ROBINS-I) were used to evaluate the risk of bias. The Grading of Recommendations Assessment, Development, and Evaluation (GRADE) tool was used to evaluate the certainty of evidence. Results: Eleven studies (4 randomized clinical trials (RCTs), 4 prospective, and 3 retrospectives) were included. Two RCTs were classified as having some concerns risk of bias and 2 as a low risk of bias. Two nonrandomized studies were classified as having a critical risk of bias and 5 as having a moderate risk of bias. The GRADE analysis demonstrated a very low to moderate certainty of evidence. Conclusions: This systematic review generally evidenced no differences in the success rate of primary non-surgical endodontic treatments when the cold lateral compaction technique and other obturation techniques are performed. Further well-designed studies are still necessary.

Application of peak based-Bayesian statistical method for isotope identification and categorization of depleted, natural and low enriched uranium measured by LaBr3:Ce scintillation detector

  • Haluk Yucel;Selin Saatci Tuzuner;Charles Massey
    • Nuclear Engineering and Technology
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    • 제55권10호
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    • pp.3913-3923
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    • 2023
  • Todays, medium energy resolution detectors are preferably used in radioisotope identification devices(RID) in nuclear and radioactive material categorization. However, there is still a need to develop or enhance « automated identifiers » for the useful RID algorithms. To decide whether any material is SNM or NORM, a key parameter is the better energy resolution of the detector. Although masking, shielding and gain shift/stabilization and other affecting parameters on site are also important for successful operations, the suitability of the RID algorithm is also a critical point to enhance the identification reliability while extracting the features from the spectral analysis. In this study, a RID algorithm based on Bayesian statistical method has been modified for medium energy resolution detectors and applied to the uranium gamma-ray spectra taken by a LaBr3:Ce detector. The present Bayesian RID algorithm covers up to 2000 keV energy range. It uses the peak centroids, the peak areas from the measured gamma-ray spectra. The extraction features are derived from the peak-based Bayesian classifiers to estimate a posterior probability for each isotope in the ANSI library. The program operations were tested under a MATLAB platform. The present peak based Bayesian RID algorithm was validated by using single isotopes(241Am, 57Co, 137Cs, 54Mn, 60Co), and then applied to five standard nuclear materials(0.32-4.51% at.235U), as well as natural U- and Th-ores. The ID performance of the RID algorithm was quantified in terms of F-score for each isotope. The posterior probability is calculated to be 54.5-74.4% for 238U and 4.7-10.5% for 235U in EC-NRM171 uranium materials. For the case of the more complex gamma-ray spectra from CRMs, the total scoring (ST) method was preferred for its ID performance evaluation. It was shown that the present peak based Bayesian RID algorithm can be applied to identify 235U and 238U isotopes in LEU or natural U-Th samples if a medium energy resolution detector is was in the measurements.

기능성 할로겐화 페닐피롤 (Development of Functional Halogenated Phenylpyrrole Derivatives)

  • 정민희;공희정;김영옥;이진호
    • 생명과학회지
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    • 제33권10호
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    • pp.842-850
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    • 2023
  • 피롤니트린, 피롤로마이신, 피오루테오린 등은 미생물 유래의 다양한 항균활성을 갖는 기능성 할로겐화 페닐피롤 유도체들이다. 그 중에서 피롤니트린은 Pseudomonas fluorescens, Burkholderia cepacia, Serratia plymuthica 등에서 L-트립토판으로부터 4단계 반응을 거쳐 만들어내는 이차대사산물이다. 현재 표재성 피부 사상진균 감염의 치료용으로 사용되며, 토양유래 및 엽면 진균감염에 높은 길항작용을 하며, 인체에 무해하여 산업적 응용가치가 높다. 한편 피롤니트린은 빛에 의해 잘 분해되기 때문에 야외에서 광범위하게 사용하는데 어려움이 있다. 그 대안으로 구조적으로 유사하고 광 안정성이 우수한 합성으로 생산되는 비침습성 표면 살균제인 플루디옥소닐이 개발되어, 주로 식물의 종자 및 엽면 처리용으로 광범위하게 사용되고 있다. 그러나, 수생생물에 높은 독성을 야기하며, 인간 세포주에서 잠재적인 내분비 교란물질로 작용할 수 있는 위험요인이 있어 각국에서 잔류허용 기준량을 설정하여 관리하고 있다. 한편, 천연 피롤로마이신, 피오루테오린과 같은 화합물이 미생물에서 분리, 확인되었으며, 각각. 그람양성균에 대한 항생/항생물막 활성, 식물 병원 난균류 Pythium ultimum에 높은 항균활성을 갖는다. 본 총설은 여러 기능성 할로겐화 페닐피롤 유도체 중 세균 유래의 피롤니트린의 생합성에 관한 특징과 생산, 합성 플루디옥소닐의 특징, 그 외 천연 페닐피롤 유도체들의 특징등을 요약하였다. 우리는 다양한 천연 HPD의 미생물에 의한 생산과 화학합성법에 의한 다양한 합성 HPD의 개발을 통해 인간과 환경에서 높은 치료 효능과 안전성을 제공하는 새로운 HPD의 개발을 기대한다.