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Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran

  • Azadegan-Dehkordi, Fatemeh;Bahrami, Tayyebe;Shirzad, Maryam;Karbasi, Gelareh;Yazdanpanahi, Nasrin;Farrokhi, Effat;Koohiyan, Mahbobeh;Tabatabaiefar, Mohammad Amin;Hashemzadeh-Chaleshtori, Morteza
    • Journal of Audiology & Otology
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    • v.23 no.1
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    • pp.20-26
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    • 2019
  • Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Subjects and Methods: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). Results: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001). Conclusions: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.

Development of Liberal Art and Natural Science Integration Computational Thinking Education Program Based on the IoT (IoT 기반의 문·이과 통합형 CT 교육 프로그램 개발)

  • Jeong, Sang-Mok;Shin, Soo-Bum;Yim, Taek-Kyun;Mun, Seong-Yun;Jeon, In-Seong
    • Journal of Korea Entertainment Industry Association
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    • v.13 no.4
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    • pp.255-262
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    • 2019
  • The informatics curriculum which was revised in 2015 presents the growth of creative and convergent talents as a main goal, and what is essential in the growth of creative and convergent talents is Computational Thinking(CT). In this study, in line with the goal of the growth of creative and convergent talents, the subject of IoT technology and liberal arts and natural sciences integration course was combined with the contents of informatics textbook, and the teaching-learning program was developed. In order to verify the effect of the developed teaching-learning program, the experimental research was conducted, and as a result of study, the mean of the experimental group was 10 points higher than that of the control group. Therefore, it could be known that there was an effect in the teaching-learning program suggested in this study. It is expected that the teaching-learning program suggested in this study can induce the learning motive and interest in SW education by directly implementing SW skill to the various fields of a real life through CT education based on Iot as well as a programing language, and improve convergent and scientific thinking through the experience of solving the problems which are blended with many subjects through liberal arts and natural sciences integration course, and designing them creatively.

A Study on the Development Strategies of University Students in Sports Colleges by Evaluating Core Competencies (스포츠계열 대학생들의 핵심역량 평가에 따른 발전방안 연구)

  • Kim, Jin-Kook;Kim, Soo-Hyun
    • Journal of Korea Entertainment Industry Association
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    • v.13 no.4
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    • pp.195-206
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    • 2019
  • The purpose of this study is to analyze the importance and performance of core competencies recognized by Korean sports students and to identify directions and methods for strengthening the competence of sports students in the future direction of future society. The results of analysis of 309 students of sports major students are as follows. First, the importance of core competencies recognized by college students in sports was in the order of self - management capacity, interpersonal capacity, communication capacity, comprehensive thinking ability, resource information technology utilization capability, and global capability. Second, the students' performance of their core competencies evaluated by sports college students was in the order of interpersonal competence, self-management competence, communication competence, comprehensive thinking ability, global competency, and resource information technology utilization competency. Third, the difference between the importance of core competence and the degree of performance was found to be significant in all areas, and the areas of great difference were total thinking, communication ability, resource information technology utilization capacity, self-management capability, Relationship competence. While college students in sports college have relatively high level of interpersonal competence, self-management competence and communication ability, comprehensive thinking ability, resource information technology utilization capacity and global competency are weak. Therefore, It will be able to be reborn as the talent required by society. Therefore, universities need to cultivate competitive sports talent through innovation of curriculum and capacity of faculty, and it should be recognized that this can be linked to the competitiveness of universities.

Epidemiological Aspects and Trends of the Extensive Eradication Programs for Bovine Brucellosis Outbreaks-Associated Human Brucellosis in Korea, 2002~2013

  • Lee, Won-Chang;Yoon, Hachung;Lee, Myeong-Jin;Kwon, Young Hwan
    • Korean journal of aerospace and environmental medicine
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    • v.29 no.2
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    • pp.72-76
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    • 2019
  • Over the last decade, human brucellosis (HB) has become a principal zoonosis in Korea. The objective of this study was observing the epidemiological trends of the extensive eradication programs for bovine brucellosis (BB) outbreaks-associated HB in Korea from 2002 to 2013. The raw data analysis in this study was obtained from the website of brucellosis outbreaks by Korea Center for Disease Control and Prevention (KCDC) and Animal and Plant Quarantine Agency (QIA), Korea, 2002~2013. The number of cases of BB outbreaks-associated HB in Korea was increased after 2003 and peaked in 2006 before decreasing thereafter. There were a total of 89,240 infected BB in domestic cattle with a cumulative incidence rate (CIR) of 611.8 per 100,000 cattle; during the same period there were a total of 703 cases of HB with a CIR of 0.12 per 100,000 persons. Moreover, the correlation coefficient of brucellosis outbreaks between cattle and human was highly significant (r=+0.985). The attack ratio of HB was 7.88 per 1,000 BB cases. All of the control measures of HB were applied in the extensive eradication programs for brucellosis outbreaks of infection source in domestic animals and contributed significantly to the reduction in the outbreaks of HB in Korea.

The role of voice onset time (VOT) and post-stop fundamental frequency (F0) in the perception of Tohoku Japanese stops (도호쿠 일본어의 폐쇄음 지각에 있어서 voice onset time(VOT)과 후속모음 fundamental frequency(F0)의 역할)

  • Hi-Gyung Byun
    • Phonetics and Speech Sciences
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    • v.15 no.1
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    • pp.35-45
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    • 2023
  • Tohoku Japanese is known to have voiced stops without pre-voicing in word-initial position, whereas traditional or conservative Japanese has voiced stops with pre-voicing in the same position. One problem with this devoicing of voiced stops is that it affects the distinction between voiced and voiceless stops because their voice onset time (VOT) values overlap. Previous studies have confirmed that Tohoku speakers use post-stop fundamental frequency (F0) as an acoustic cue along with VOT to avoid overlap. However, the role of post-stop F0 as a perceptual cue in this region has barely been investigated. Therefore, this study explored the role of post-stop F0 in stop voicing perception along with VOT. Several perception tests were conducted using resynthesized stimuli, which were manipulated along a VOT continuum orthogonal to an F0 continuum. The results showed no significant regional difference (Tohoku vs. Chubu) for nonsense words (/ta-da/). However, for meaningful words (/pari/ 'Paris' vs. /bari/ 'Bali,' /piza/ 'pizza' vs. /biza/ 'visa'), a significant word effect was found, and it was confirmed that some listeners utilized the post-stop F0 more consistently and steadily than others. Based on these results, we discuss innovative listeners who may lead the change in the perception of stop voicing.

Antimalarial effect of synthetic endoperoxide on synchronized Plasmodium chabaudi infected mice

  • Nagwa S. M. Aly;Hiroaki Matsumori;Thi Quyen Dinh;Akira Sato;Shin-Ichi Miyoshi;Kyung-Soo Chang;Hak Sun Yu;Fumie Kobayashi;Hye-Sook Kim
    • Parasites, Hosts and Diseases
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    • v.61 no.1
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    • pp.33-41
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    • 2023
  • The discovery of new antimalarial drugs can be developed using asynchronized Plasmodium berghei malaria parasites in vivo in mice. Studies on a particular stage are also required to assess the effectiveness and mode of action of drugs. In this report, we used endoperoxide 6-(1,2,6,7-tetraoxaspiro [7.11] nonadec-4-yl) hexan-1-ol (N-251) as a model antimalarial compound on P. chabaudi parasites. We examined the antimalarial effect of N-251 against ring-stage- and trophozoite-stage-rich P. chabaudi parasites and asynchronized P. berghei parasites using the 4-day suppressive test. The ED50 values were 27, 22, and 22 mg/kg, respectively, and the antimalarial activity of N-251 was verified in both rodent malaria parasites. To assess the stage-specific effect of N-251 in vivo, we evaluated the change of parasitemia and distribution of parasite stages using ring-stage- and trophozoite-stage-rich P. chabaudi parasites with one-day drug administration for one life cycle. We discovered that the parasitemias decreased after 13 and 9 hours post-treatment in the ring-stage- and trophozoite-stage-rich groups, respectively. Additionally, in the ring-stage-rich N-251 treated group, the ring-stage parasites hindered trophozoite parasite development. For the trophozoite-stage-rich N-251 treated group, the distribution of the trophozoite stage was maintained without a change in parasitemia until 9 hours. Because of these findings, it can be concluded that N-251 suppressed the trophozoite stage but not the ring stage. We report for the first time that N-251 specifically suppresses the trophozoite stage using P. chabaudi in mice. The results show that P. chabaudi is a reliable model for the characterization of stage-specific antimalarial effects.

Factors influencing farmed fish traders' intention to use improved fish post-harvest technologies in Kenya: application of technology acceptance model

  • Jimmy Brian Mboya;Kevin Odhiambo Obiero;Maureen Jepkorir Cheserek;Kevin Okoth Ouko;Erick Ochieng Ogello;Nicholas Otieno Outa;Elizabeth Akinyi Nyauchi;Domitila Ndinda Kyule;Jonathan Mbonge Munguti
    • Fisheries and Aquatic Sciences
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    • v.26 no.2
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    • pp.105-116
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    • 2023
  • Improved fish post-harvest technologies (IFPT) have been promoted as more efficient methods of fish processing, preservation, and value addition than the traditional methods prevalent in developing countries. The adoption rates, however, do not appear to be convincing. The purpose of this study was to determine the socio-demographic and psychological factors that influence intention of Kenyan farmed fish traders to use IFPT. The technology acceptance model (TAM) was used to properly explain the impact of TAM constructs such as perceived usefulness (PU), perceived ease of use (PEOU), and attitude (ATT), as well as socio-demographic factors such as gender, age, education level and fish trading experience on traders' intention to use the technologies. A cross-sectional survey was conducted to collect data using a semi-structured questionnaire from 146 traders in Busia, Siaya and Kakamega counties. At a significance level of p = 0.05, a linear regression model was used to examine the socio-demographic and psychological determinants of the traders' behavioral intention to use the improved technologies. The regression analysis revealed that PU (β = 0.443; p = 0.000), PEOU (β = 0.364; p = 0.000) and ATT (β = 0.615; p = 0.000) influence traders' intention to use IFPT, with ATT having the highest influence on intention. However, the traders' socio-demographic characteristics have no effect on their intention to use the technologies, as the coefficients for gender (β = 0.148; p = 0.096), age (β = 0.016; p = 0.882), level of education (β = -0.135; p = 0.141) and fish trading experience (β = 0.017; p = 0.869) are all insignificant. These findings show that the traders intend to use IFPT and will use them when it is in their best economic interests.

Antifungal and carboxylesterase-producing bacteria applied into corn silage still affected the fermented total mixed ration

  • Dimas Hand Vidya Paradhipta;Myeong Ji Seo;Seung Min Jeong;Young Ho Joo;Seong Shin Lee;Pil Nam Seong;Hyuk Jun Lee;Sam Churl Kim
    • Animal Bioscience
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    • v.36 no.5
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    • pp.720-730
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    • 2023
  • Objective: This study investigated the effects of corn silage as a source of microbial inoculant containing antifungal and carboxylesterase-producing bacteria on fermentation, aerobic stability, and nutrient digestibility of fermented total mixed ration (FTMR) with different energy levels. Methods: Corn silage was used as a bacterial source by ensiling for 72 d with an inoculant mixture of Lactobacillus brevis 5M2 and L. buchneri 6M1 at a 1:1 ratio. The corn silage without or with inoculant (CON vs MIX) was mixed with the other ingredients to formulate for low and high energy diets (LOW vs HIGH) for Hanwoo steers. All diets were ensiled into 20 L mini silo (5 kg) for 40 d in quadruplicate. Results: The MIX diets had lower (p<0.05) acid detergent fiber with higher (p<0.05) in vitro digestibilities of dry matter and neutral detergent fiber compared to the CON diets. In terms of fermentation characteristics, the MIX diets had higher (p<0.05) acetate than the CON diets. The MIX diets had extended (p<0.05) lactic acid bacteria growth at 4 to 7 d of aerobic exposure and showed lower (p<0.05) yeast growth at 7 d of aerobic exposure than the CON diets. In terms of rumen fermentation, the MIX diets had higher (p<0.05) total fermentable fraction and total volatile fatty acid, with lower (p<0.05) pH than those of CON diets. The interaction (p = 0.036) between inoculant and diet level was only found in the immediately fermentable fraction, which inoculant was only effective on LOW diets. Conclusion: Application of corn silage with inoculant on FTMR presented an antifungal effect by inhibiting yeast at aerobic exposure and a carboxylesterase effect by improving nutrient digestibility. It also indicated that fermented feedstuffs could be used as microbial source for FTMR. Generally, the interaction between inoculant and diet level had less effect on this FTMR study.

A Study on Earth Pressure Properties of Granulated Blast Furnace Slag Used as Back-fill Material (뒷채움재로 이용한 고로 수쇄슬래그의 토압특성에 관한 실험적 연구)

  • Baek, Won-Jin;Lee, Kang-Il
    • Journal of the Korean Geotechnical Society
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    • v.22 no.8
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    • pp.119-127
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    • 2006
  • Granulated Blast Furnace Slag (GBFS) is produced in the manufacture process of pig-iron and shows a similar particle formation to that of natural sea sand and also shows light weight, high shear strength, well permeability, and especially has a latent hydraulic property by which GBFS is solidified with time. Therefore, when GBFS is used as a backfill material of quay or retaining walls, the increase of shear strength induced by the hardening is presumed to reduce the earth pressure and consequently the construction cost of harbor structures decreases. In this study, using the model sand box (50 cm$\times$50 cm$\times$100 cm), the model wall tests were carried out on GBFS and Toyoura standard sand, in which the resultant earth pressure, a wall friction and the earth pressure distribution at the movable wall surface were measured. In the tests, the relative density was set as Dr=25, 55 and 70% and the wall was rotated at the bottom to the active earth pressure side and followed by the passive side. The maximum horizontal displacement at the top of the wall was set as ${\pm}2mm$. By these model test results, it is clarified that the resultant earth pressure obtained by using GBFS is smaller than that of Toyoura sand, especially in the active-earth pressure.

High Resolution Seismic Reflection Method Using S-Waves: Case Histories for Ultrashallow Bedrocks (S파를 이용한 고해상도 탄성파 반사법 탐사: 지반표층부에 대한 적용사례)

  • Kim Sung-Woo;Woo Ki-Han;Han Myung-Ja;Jang Hae-Dong;Choi Yong-Kyu;Kong Young-Sae
    • Journal of the Korean Geotechnical Society
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    • v.22 no.4
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    • pp.41-49
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    • 2006
  • This paper demonstrates the feasibility of using shallow S-wave, high-resolution seismic reflection surveys to characterize geological structure and stratigraphy of basement rocks for civil engineering purposes. S-wave seismic reflections from depths less than 20 m were recorded along the top of steep readout slopes. Seismic reflection data were recorded using a standard CDP acquisition method with a 24-channel seismograph and a sledge-hammer SH-wave source. The data were acquired using a split-spread source-receiver geometry with a 2 m shot-and-receiver interval, and then were processed to enhance S/N ratio of the data, to improve resolvable power of the seismic section, and to get velocity information of the basement rock. The final seismic reflection profiles using the CDP technique has imaged surfaces as shallow as less than 1m and resolved beds as thin as 1m. The migrated reflection sections possess sufficient quality to correlate the prominent reflection events to the bedding planes and faults identified on the readout outcrops. Similar S-wave reflection surveys could also be used to produce the necessary details of a geological structure of shallow bedrocks to pinpoint optimum locations for monitor wells of civil engineering purposes.