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Identification of novel mutations of the ATP7A gene and prenatal diagnosis of Menkes disease by mutation analysis (DNA 분석을 이용한 ATP7A 유전자의 새로운 돌연변이 발견과 멘케스병의 산전 진단)

  • Choi, Jin-Ho;Kim, Gu-Hwan;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.4 no.1
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    • pp.38-44
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    • 2007
  • Purpose : Menkes disease is an X-linked recessively inherited disorder caused by the mutation of the ATP7A gene encoding copper-transporting P-type AT Pase. The phenotypic features are progressive neurological degeneration, mental retardation, loose skin, and vascular complications. Early diagnosis and treatment are very important for the prognosis of Menkes disease. Here, we describe nov el mutations of the ATP7A gene and prenatal diagnosis by mutation analysis. Methods : Five unrelated Korean Menkes patients were included in this study. They presented with depigmented wool-like hair, progressive neurologic deterioration, and hypotonia in infancy. Serum copper and ceruloplasmin levels w ere decreased. Brain magnetic resonance imaging revealed tortuous intracranial vessels. Mutation analysis has been carried out using cDNA from cultured skin fibroblasts or genomic DNA from peripheral leukocytes. Prenatal diagnosis was performed in two cases using chorionic villi samples or amniocytes. Results : Four novel mutations have been identified from four different families; c.3511+1G>A (p.E1099_N1171delinsMfsX 18), c.4005+5 G>A (p.V1268_R1335del), c.1870_2172del (p.S624_Q724del), and c.3352 G>A (p.G1118S). T he remaining one was previously reported (c.1933 C>T (p.V 1268_R1335del)). On prenatal DNA analysis, one w as diagnosed as normal, while the other turned out to be a female heterozygote with p.S624_Q724del mutation of the ATP7A gene. Conclusion : We identified 4 novel mutations of the ATP7A gene. Prenatal diagnosis in families at risk is critical in order to choose preventiv e options including an early treatment with copper-histidine therapy or therapeutic termination. Most mutations of the ATP7A gene were frame-shift mutations and prenatal diagnosis has been successfully carried out.

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Computer-Aided Diagnosis Parameters of Invasive Carcinoma of No Special Type on 3T MRI: Correlation with Pathologic Immunohistochemical Markers (3T 자기공명영상에서 비특이 침윤성 유방암의 컴퓨터보조진단 인자들과 병리적 면역조직화학 표지자들과의 상관성)

  • Jinho Jeong;Chang Suk Park;Jung Whee Lee;Kijun Kim;Hyeon Sook Kim;Sun-Young Jun;Se-Jeong Oh
    • Journal of the Korean Society of Radiology
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    • v.83 no.1
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    • pp.149-161
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    • 2022
  • Purpose To investigate the correlation between computer-aided diagnosis (CAD) parameters in 3-tesla (T) MRI and pathologic immunohistochemical (IHC) markers in invasive carcinoma of no special type (NST). Materials and Methods A total of 94 female who were diagnosed with NST carcinoma and underwent 3T MRI using CAD, from January 2018 to April 2019, were included. The relationship between angiovolume, curve peak, and early and late profiles of dynamic enhancement from CAD with pathologic IHC markers and molecular subtypes were retrospectively investigated using Dwass, Steel, Critchlow-Fligner multiple comparison analysis, and univariate binary logistic regression analysis. Results In NST carcinoma, a higher angiovolume was observed in tumors of higher nuclear and histologic grades and in lymph node (LN) (+), estrogen receptor (ER) (-), progesterone receptor (PR) (-), human epidermal growth factor 2 (HER2) (+), and Ki-67 (+) tumors. A high rate of delayed washout and a low rate of delayed persistence were observed in Ki-67 (+) tumors. In the binary logistic regression analysis of NST carcinoma, a high angiovolume was significantly associated with a high nuclear and histologic grade, LN (+), ER (-), PR (-), HER2 (+) status, and non-luminal subtypes. A high rate of washout and a low rate of persistence were also significantly correlated with the Ki-67 (+) status. Conclusion Angiovolume and delayed washout/persistent rate from CAD parameters in contrast enhanced breast MRI correlated with predictive IHC markers. These results suggest that CAD parameters could be used as clinical prognostic, predictive factors.

The Comparative Imaging Study on Mn-phthalocyanine and Mangafodipir trisodium in Experimental VX2 Animal Model (실험적으로 유발시킨 VX2 동물모델에서의 Mn-phthalocyanine과 Mangafodipir trisodium의 비교영상)

  • Park Hyun-Jeong;Ko Sung-Min;Kim Yong-Sun;Chang Yongmin
    • Investigative Magnetic Resonance Imaging
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    • v.8 no.1
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    • pp.32-41
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    • 2004
  • Purpose : To measure the NMR relaxation properties of MnPC, to observe the characteristics of liver enhancement patterns on MR images in experimentally implanted rabbit VX2 tumor model, and to estimate the possibility of tissue specific contrast agent for MnPC in comparison with the hepatobiliary agent. Materials and Methods : Phthalocyanine (PC) was chelated with paramagnetic ions, manganese (Mn). 2.01 g (5.2 mmol) of phthalocyanine was mixed with 0.37 g (1.4 nlmol) of Mn chloride at $310^{\circ}C$ for 36 hours and then purified by chromatography ($CHCl_3:\;CH_3OH=98:2$, volume ratio) to obtain 1.04 g $(46\%)$ of MnPC (molecular weight = 2000 daltons). The T1/T2 relaxivity (R1/R2) for MnPC were determined at a 1.5 T (64 MHz) MR spectrometer. VX2 tumor model was experimentally implanted in the liver parenchyma of rabbits. All MR studies were performed on 1.5 T. The human extremity radio frequency coil of a bird cage type was employed. MR images were acquired at 17 to 24 days after VX2 carcinoma implantation.4 mmol/kg MnPC and 0.01 mmol/kg Mn-DPDP were injected via the ear vein of rabbits. T1-weighted images were obtained with spin-echo (TR/TE=516/14 msec) and fast multiplanar spoiled gradient recalled (TR/TE : 80/4 msec, $60^{\circ}$ flip angle) pulse sequence. Fast spin-echo (TR/TE=1200/85 msec) was used to obtain the T2-weighted images. Results : The value of T1/T2 relaxivity (R1/R2) of MnPC was $7.28\;mM^{-1}S^{-1}$ and $55.56\;mM^{-1}S^{-1}$ respectively at 1.5 T (64 MHz). Because the T2 relaxivity of MnPC that bonded strongly, covalently manganese with phthalocyanine was very high, the signal intensity of liver parenchyma was decreased on postcontrast T2-weighted images and we could easily distinguish the VX2 carcinoma within the liver parenchyma. When MnPC was administrated intravenously, the tumor margin delineation was more remarkable than Mn-DPDP-enhanced images. The enhancement of liver parenchyma with MnPC persisted at relatively high levels over at least one hour after injection of the contrast agents. Conclusion : The hepatic uptake and biliary excretion of MnPC, which are similar to Mn-DPDP, suggest that this agent is a new liver-specific agent. Also, MnPC seems to be used as a dual contrast agent (T1 and T2) with high T2 relaxivity. However, it is warranted that MnPC needs further investigation as a potential contrast agent for MR imaging of the liver. That is, further characterizations of MnPC are needed in vivo and in vitro before clinical trials. The diagnostic potential of MnPC will also have to be examined more in the animal models of additional types.

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Development of a split beam transducer for measuring fish size distribution (어체 크기의 자동 식별을 위한 split beam 음향 변환기의 재발)

  • 이대재;신형일
    • Journal of the Korean Society of Fisheries and Ocean Technology
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    • v.37 no.3
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    • pp.196-213
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    • 2001
  • A split beam ultrasonic transducer operating at a frequency of 70 kHz to use in the fish sizing echo sounder was developed and the acoustic radiation characteristics were experimentally analyzed. The amplitude shading method utilizing the properties of the Chebyshev polynomials was used to obtain side lobe levels below -20 dB and to optimize the relationship between main beam width and side lobe level of the transducer, and the amplitude shading coefficient to each of the elements was achieved by changing the amplitude contribution of elements with 4 weighting transformers embodied in the planar array transducer assembly. The planar array split beam transducer assembly was composed of 36 piezoelectric ceramics (NEPEC N-21, Tokin) of rod type of 10 mm in diameter and 18.7 mm in length of 70 kHz arranged in the rectangular configuration, and the 4 electrical inputs were supplied to the beamformer. A series of impedance measurements were conducted to check the uniformity of the individual quadrants, and also in the configurations of reception and transmission, resonant frequency, and the transmitting and receiving characteristics were measured in the water tank and analyzed, respectively. The results obtained are summarized as follows : 1. Average resonant and antiresonant frequencies of electrical impedance for four quadrants of the split beam transducer in water were 69.8 kHz and 83.0 kHz, respectively. Average electrical impedance for each individual transducer quadrant was 49.2$\Omega$ at resonant frequency and 704.7$\Omega$ at antiresonant frequency. 2. The resonance peak in the transmitting voltage response (TVR) for four quadrants of the split beam transducer was observed all at 70.0 kHz and the value of TVR was all about 165.5 dB re 1 $\mu$Pa/V at 1 m at 70.0 kHz with bandwidth of 10.0 kHz between -3 dB down points. The resonance peak in the receiving sensitivity (SRT) for four combined quadrants (quad LU+LL, quad RU+RL, quad LU+RU, quad LL+RL) of the split beam transducer was observed all at 75.0 kHz and the value of SRT was all about -177.7 dB re 1 V/$\mu$Pa at 75.0 kHz with bandwidth of 10.0 kHz between -3 dB down points. The sum beam transmitting voltage response and receiving senstivity was 175.0 dB re 1$\mu$Pa/V at 1 m at 75.0 kHz with bandwidth of 10.0 kHz, respectively. 3. The sum beam of split beam transducer was approximately circular with a half beam angle of $9.0^\circ$ at -3 dB points all in both axis of the horizontal plane and the vertical plane. The first measured side lobe levels for the sum beam of split beam transducer were -19.7 dB at $22^\circ$ and -19.4 dB at $-26^\circ$ in the horizontal plane, respectively and -20.1 dB at $22^\circ$ and -22.0 dB at $-26^\circ$ in the vertical plane, respectively. 4. The developed split beam transducer was tested to estimate the angular position of the target in the beam through split beam phase measurements, and the beam pattern loss for target strength corrections was measured and analyzed.

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Comparison of Epileptic Seizures between Preterm and Term-born Epileptic Children with Periventricular Leukomalacia (뇌실 주위 백질연화증이 있는 간질 환아에서 조산 및 만삭 출산군 간의 간질 발작 유형의 비교)

  • Jeong, Hee Jeong;Lee, Eun Sil;Moon, Han Ku
    • Clinical and Experimental Pediatrics
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    • v.48 no.11
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    • pp.1225-1231
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    • 2005
  • Purpose : This study compares the first epileptic seizures between preterm and term-born children with periventricular leukomalacia and epilepsy. Methods : From 108 cases having lesions of high signal intensity around the ventricles in T2 weighted imaging of a brain magnetic resonance study, we selected 37 cases that showed epileptic seizures two times or more and divided them into the group of preterm-born(27 cases) and term-born children(10 cases). A retrospective study was made by comparing the two groups with regard to age, type of the first epileptic seizures, EEG findings and responsiveness to anticonvulsants. Results : The age of the first epileptic seizure was $22.2{\pm}18.3$ months in the preterm-born group and $26.9{\pm}21.1$ months in the term-born group(P=0.505). As for the first epileptic seizure, 11 out of the 27 cases in the preterm-born group had infantile spasms. Out of the 10 cases in the term-born group, 7 had complex partial seizures. In the preterm group, hypsarrhythmias were found in 11 cases, focal epileptiform discharges in 6 cases. In term-born group, focal epileptiform discharges were found in 5 cases but no epileptiform discharge was found in 3 cases. Intractable epilepsies were diagnosed in 6 cases and all of them belonged to the preterm-born group. Conclusion : More severe epilepsies such as infantile spasm and intractable epilepsies seem to be more common in preterm-born epileptic children with PVL as well as more severely abnormal EEG finding compared to term-born epileptic children.

Development of JPEG2000 Viewer for Mobile Image System (이동형 의료영상 장치를 위한 JPEG2000 영상 뷰어 개발)

  • 김새롬;정해조;강원석;이재훈;이상호;신성범;유선국;김희중
    • Progress in Medical Physics
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    • v.14 no.2
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    • pp.124-130
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    • 2003
  • Currently, as a consequence of PACS (Picture Archiving Communication System) implementation many hospitals are replacing conventional film-type interpretations of diagnostic medical images with new digital-format interpretations that can also be saved, and retrieve However, the big limitation in PACS is considered to be the lack of mobility. The purpose of this study is to determine the optimal communication packet size. This was done by considering the terms occurred in the wireless communication. After encoding medical image using JPGE2000 image compression method, This method embodied auto-error correction technique preventing the loss of packets occurred during wireless communication. A PC class server, with capabilities to load, collect data, save images, and connect with other network, was installed. Image data were compressed using JPEG2000 algorithm which supports the capability of high energy density and compression ratio, to communicate through a wireless network. Image data were also transmitted in block units coeded by JPEG2000 to prevent the loss of the packets in a wireless network. When JPGE2000 image data were decoded in a PUA (Personal Digital Assistant), it was instantaneous for a MR (Magnetic Resonance) head image of 256${\times}$256 pixels, while it took approximately 5 seconds to decode a CR (Computed Radiography) chest image of 800${\times}$790 pixels. In the transmission of the image data using a CDMA 1X module (Code-Division Multiple Access 1st Generation), 256 byte/sec was considered a stable transmission rate, but packets were lost in the intervals at the transmission rate of 1Kbyte/sec. However, even with a transmission rate above 1 Kbyte/sec, packets were not lost in wireless LAN. Current PACS are not compatible with wireless networks. because it does not have an interface between wired and wireless. Thus, the mobile JPEG2000 image viewing system was developed in order to complement mobility-a limitation in PACS. Moreover, the weak-connections of the wireless network was enhanced by re-transmitting image data within a limitations The results of this study are expected to play an interface role between the current wired-networks PACS and the mobile devices.

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Diagnostic Value of MRI in Schwannoma (신경초종 진단에 있어 자기공명영상촬영(MRI)의 진단적 가치)

  • Kim, Jeung Il;Kim, Um Ji;Moon, Tae Yong;Lee, In Sook;Song, You Seon;Choi, Kyung Un
    • The Journal of the Korean bone and joint tumor society
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    • v.20 no.2
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    • pp.60-65
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    • 2014
  • Purpose: To diagnose soft tissue tumor, such as lipoma and Schwannoma, magnetic resonance imaging (MRI) is sufficient in most cases. However, various characteristics are found in MRI images of Schwannoma, thus other type of tumors are often misdiagnosed as Schwannoma with MRI images. In this study, we evaluate the diagnostic value of specific MRI findings of Schwannoma. Materials and Methods: From January 2002 to May 2013, 104 patients who are suspected as Schwannoma rith MRI images are included in data, and the final diagnosis is confirmed with biopsy. Patients are divided into group 1 and group 2 who are confirmed as Schwannoma and other disease with biopsy, respectively. Results: 92 patients were diagnosed as Schwannoma (group 1) and 12 patients were diagnosed as other disease (group 2). We investigate the diagnostic value of specific MRI findings of Schwannoma. 41 patients of group 1 (45%) and 0 patients of group 2 (0%) showed target sign, 47 patients of group 1 (51%) and 2 patients of group 2 (17%) showed fascicular sign, 44 patients of group 1 (48%) and 5 patients of group 2 (42%) showed fat split sign, 28 patients of group 1 (30%) and 1 patients of group 2(9%) showed nerve entering and exiting sign, and 8 patients of group 1 (9%) and 6 patients of group 2 (50%) showed none of four specific findings on their MRI images. 52 patients of group 1 (57%) and 5 patients of group 2 (42%) have tumors on the pathway of nerve. Target sign could be considered as the best diagnostic value of the sign we investigate (p<0.05). Conclusion: Although specific MRI findings have powerful diagnostic value, patients are often misdiagnosed as Schwannoma with MRI findings. Therefore, if patients who are suspected as Schwannoma based on MRI findings have no target sign on their MRI images, we should consider the possibility of other disease.

The influence of implant diameter, length and design changes on implant stability quotient (ISQ) value in artificial bone (임플란트의 직경, 길이 및 디자인변화가 임플란트 안정성지수(ISQ)에 미치는 영향)

  • Lee, Jeong-Yol;Lee, Won-Chang;Kim, Min-Soo;Kim, Jong-Eun;Shin, Sang-Wan
    • The Journal of Korean Academy of Prosthodontics
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    • v.50 no.4
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    • pp.292-298
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    • 2012
  • Purpose: The purpose of this study is to ascertain the stability of the implant by comparing the effects of the change of implant diameter, length and design on implant stability quotient. Materials and methods: To remove the variable due to the difference of bone quality, the uniform density (0.48 g/$cm^3$) Polyuretane foam blocks (Sawbones$^{(R)}$, Pacific Research Laboratories Inc, Vashon, Washington) were used. Implants (Implantium$^{(R)}$, Dentium, Seoul, Korea) were placed with varying diameters (${\phi}3.8$, ${\phi}4.3$ and ${\phi}4.8$) and length (8 mm, 10 mm and 12 mm), to assess the effect on implant stability index (ISQ). Also the influence of the design of the submerged and the non-submerged (SimplelineII$^{(R)}$, Dentium, Seoul, Korea) on ISQ was evaluated. To exclude the influence of insertion torque, a total of 60 implants (n = 10) were placed with same torque to 35 N. Using Osstell$^{TM}$ mentor (Integration Diagnostic AB, Sweden) ISQ values were recorded after measuring the resonant frequency, one-way ANOVA and Tukey HSD test results were analyzed. (${\alpha}$=0.05). Results: 1. The change of the diameter of the implant did not affect the ISQ (P>.05), but the increase of implant length increased the ISQ(P<.001). 2. The change in implant design were correlated with the ISQ, and the ISQ of submerged design was significantly higher than that of the non-submerged design(P<.05). Conclusion: In order to increase implant stability, the longer implant is better to be selected, and on the same length of implant, submerged design is thought to be able to get a higher ISQ than the non-submerged.

Recent Progress in Air Conditioning and Refrigeration Research - A Review of Papers Published in the Korean Journal of Air-Conditioning and Refrigeration Engineering in 2004 and 2005 - (공기조화, 냉동 분야의 최근 연구 동향 -2004년 및 2005년 학회지 논문에 대한 종합적 고찰-)

  • Choi, Yong-Don;Kang, Yong-Tae;Kim, Nae-Hyun;Kim, Man-Hoe;Park, Kyoung-Kuhn;Park, Byung-Yoon;Park, Jin-Chul;Hong, Hi-Ki
    • Korean Journal of Air-Conditioning and Refrigeration Engineering
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    • v.19 no.1
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    • pp.94-131
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    • 2007
  • A review on the papers published in the Korean Journal of Air-Conditioning and Refrigerating Engineering in 2004 and 2005 has been done. Focus has been put on current status of research in the aspect of heating, cooling, air-conditioning, ventilation, sanitation and building environment. The conclusions are as follows. (1) Most of fundamental studies on fluid flow were related with heat transportation of facilities. Drop formation and rivulet flow on solid surfaces were interesting topics related with condensation augmentation. Research on micro environment considering flow, heat, humidity was also interesting for comfortable living environment. It can be extended considering biological aspects. Development of fans and blowers of high performance and low noise were continuing topics. Well developed CFD and flow visualization(PIV, PTV and LDV methods) technologies were widely applied for developing facilities and their systems. (2) The research trends of the previous two yews are surveyed as groups of natural convection, forced convection, electronic cooling, heat transfer enhancement, frosting and defrosting, thermal properties, etc. New research topics introduced include natural convection heat transfer enhancement using nanofluid, supercritical cooling performance or oil miscibility of $CO_2$, enthalpy heat exchanger for heat recovery, heat transfer enhancement in a plate heat exchanger using fluid resonance. (3) The literature for the last two years($2004{\sim}2005$) is reviewed in the areas of heat pump, ice and water storage, cycle analysis and reused energy including geothermal, solar and unused energy). The research on cycle analysis and experiments for $CO_2$ was extensively carried out to replace the Ozone depleting and global warming refrigerants such as HFC and HCFC refrigerants. From the year of 2005, the Gas Engine Heat Pump(GHP) has been paid attention from the viewpoint of the gas cooling application. The heat pipe was focused on the performance improvement by the parametric analysis and the heat recovery applications. The storage systems were studied on the performance enhancement of the storage tank and cost analysis for heating and cooling applications. In the area of unused energy, the hybrid systems were extensively introduced and the life cycle cost analysis(LCCA) for the unused energy systems was also intensively carried out. (4) Recent studies of various refrigeration and air-conditioning systems have focused on the system performance and efficiency enhancement. Heat transfer characteristics during evaporation and condensation are investigated for several tube shapes and of alternative refrigerants including carbon dioxide. Efficiency of various compressors and expansion devices are also dealt with for better modeling and, in particular, performance improvement. Thermoelectric module and cooling systems are analyzed theoretically and experimentally. (5) According to the review of recent studies on ventilation systems, an appropriate ventilation systems including machenical and natural are required to satisfied the level of IAQ. Also, an recent studies on air-conditioning and absorption refrigeration systems, it has mainly focused on distribution and dehumidification of indoor air to improve the performance were carried out. (6) Based on a review of recent studies on indoor environment and building service systems, it is noticed that research issues have mainly focused on optimal thermal comfort, improvement of indoor air Quality and many innovative systems such as air-barrier type perimeter-less system with UFAC, radiant floor heating and cooling system and etc. New approaches are highlighted for improving indoor environmental condition as well as minimizing energy consumption, various activities of building control and operation strategy and energy performance analysis for economic evaluation.

A study of Artificial Intelligence (AI) Speaker's Development Process in Terms of Social Constructivism: Focused on the Products and Periodic Co-revolution Process (인공지능(AI) 스피커에 대한 사회구성 차원의 발달과정 연구: 제품과 시기별 공진화 과정을 중심으로)

  • Cha, Hyeon-ju;Kweon, Sang-hee
    • Journal of Internet Computing and Services
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    • v.22 no.1
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    • pp.109-135
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    • 2021
  • his study classified the development process of artificial intelligence (AI) speakers through analysis of the news text of artificial intelligence (AI) speakers shown in traditional news reports, and identified the characteristics of each product by period. The theoretical background used in the analysis are news frames and topic frames. As analysis methods, topic modeling and semantic network analysis using the LDA method were used. The research method was a content analysis method. From 2014 to 2019, 2710 news related to AI speakers were first collected, and secondly, topic frames were analyzed using Nodexl algorithm. The result of this study is that, first, the trend of topic frames by AI speaker provider type was different according to the characteristics of the four operators (communication service provider, online platform, OS provider, and IT device manufacturer). Specifically, online platform operators (Google, Naver, Amazon, Kakao) appeared as a frame that uses AI speakers as'search or input devices'. On the other hand, telecommunications operators (SKT, KT) showed prominent frames for IPTV, which is the parent company's flagship business, and 'auxiliary device' of the telecommunication business. Furthermore, the frame of "personalization of products and voice service" was remarkable for OS operators (MS, Apple), and the frame for IT device manufacturers (Samsung) was "Internet of Things (IoT) Integrated Intelligence System". The econd, result id that the trend of the topic frame by AI speaker development period (by year) showed a tendency to develop around AI technology in the first phase (2014-2016), and in the second phase (2017-2018), the social relationship between AI technology and users It was related to interaction, and in the third phase (2019), there was a trend of shifting from AI technology-centered to user-centered. As a result of QAP analysis, it was found that news frames by business operator and development period in AI speaker development are socially constituted by determinants of media discourse. The implication of this study was that the evolution of AI speakers was found by the characteristics of the parent company and the process of co-evolution due to interactions between users by business operator and development period. The implications of this study are that the results of this study are important indicators for predicting the future prospects of AI speakers and presenting directions accordingly.