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Clinical Features, Molecular Analysis, and Outcome of ERT in Korean Patients with Mucopolysaccharidosis Type VI (국내 6형 뮤코다당증의 임상 양상, 분자유전학적 특징 및 효소치료의 효과에 대한 고찰)

  • Wichajarn, Khunton;Kim, Jinsup;Yang, Aram;Sohn, Young Bae;Lee, Beom Hee;Yoo, Han-Wook;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.16 no.1
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    • pp.24-33
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    • 2016
  • Mucopolysaccharidosis type VI (MPS VI) is a rare disease caused by the mutation of ARSB with prevalence range from 1/5,000 in northeast Brazil to 1/2,057,529 births in Czech Republic. In Asia, there is only one published figure in Taiwan of about 1/833,000 births. The exact prevalence in the Korean population is unknown, but we estimated the incidence of MPS VI is about 0.03/100,000 live births. Enzyme replacement therapy (ERT) with recombinant human Arylsulfatase B (rhASB) is a modality for the treatment of MPS VI that reduces the excretion of urine glycosaminoglycan (GAG) and improves joint motion, pulmonary function, and endurance. We presented the clinical features, molecular analysis and outcome of ERT in three Korean MPS VI patients. All patients had the typical characteristic clinical features of MPS IV. Short stature, dysostosis multiplex, corneal opacity and valvular heart disease were found at first presentation, while restrictive lung disease and carpal tunnel syndrome developed later in all patients. Molecular analysis demonstrated novel missense and nonsense mutation in the patients, including p.Ile 67Ser, p.Gly328Arg, $p.Arg191^*$, p.Asp352Asn, and p.Gly17Asp. After ERT, urine GAG was decreased in all patients. Skeletal involvement, corneal opacity, heart valve abnormalities and pulmonary function were not improved with ERT, but it had a better outcome on regarding joint motion and endurance. One patient underwent allogeneic bone marrow transplantation (BMT) prior to ERT, but their clinical response was not improved much after BMT. This study demonstrates clinical phenotypes and molecular analysis of the severe form of MPS VI in Korean patients.

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SURFACE CHANCE OF EXTERNAL HEXAGON OF IMPLANT FIXTURE AND INTERNAL HEXAGON OF ABUTMENT AFTER REPEATED DELIVERY AND REMOVAL OF ABUTMENT (지대주의 반복적인 착탈에 따른 임플랜트 고정체의 external hexagon과 지대주 internal hexagon의 변화에 관한 연구)

  • Jung Seok-Won;Kim Hee-Jung;Chung Chae-Heon
    • The Journal of Korean Academy of Prosthodontics
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    • v.43 no.4
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    • pp.528-543
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    • 2005
  • Statement of problem: Repeated delivery and removal of abutment cause some changes such as wear, scratch or defect of hexagonal structure. It may increase the value of rotational freedom(RF) between hexagonal structures. Purpose: The purpose of this study was to evaluate surface changes and rotational freedom between the external hexagon of the implant fixture and internal hexagon of abutment after repeated delivery and removal under SEM and toolmaker's microscope. Materials and methods: Implant systems used for this study were 3i and Avana. Seven pail's of implant fixture, abutment and abutment screws for each system were selected and all fixtures were perpendicularly mounted in liquid unsaturated polyesther with dental surveyor. Each one was embedded beneath the platform of fixture. Surfaces of hexagonal structure before repeated closing and opening of abutment were observed using SEM and rotational freedom was measured by using toolmaker's microscope. Each abutment was secured to the implant future by each abutment screw with recommended torque value using a digital torque controller and was repeatedly delivered and removed by 20 times respectively. After experiment, evaluation for the change of hexagonal structures and measurement of rotational freedom were performed. Result : The results were as follows; 1. Wear of contact area between implant fixture and abutment was considerable in both 3i and Avana system. Scratches and defects were frequently observed at the line-angle of hexagonal structures of implant fixture and abutment. 2. In the SEM view of the external hexagon of implant fixture, the point-angle areas at the corner edge of hexagon were severely worn out in both systems. It was more notable in the case of 3i systems than in that of Avana systems. 3. In the SEM view of the internal hexagon of abutment, Gingi-Hue abutment of 3i systems showed severe wear in micro-stop contacts that were machined into the corners to prevent rotation and cemented abutment of Avana systems showed wear in both surface area adjacent to the corner mating with external hexagon of implant fixture. 4 The mean values of rotational freedom between the external hexagon of the implant fixture and internal hexagon of abutment were 0.48$\pm$0.04$^{\circ}$ in pre-tested 3i systems and 1.18$\pm$0.25$^{\circ}$ after test, and 1.80$\pm$0.04$^{\circ}$ in pre-tested Avana systems and 2.61$\pm$0.16$^{\circ}$ after test. 5. Changes of rotational freedom after test shouted statistical)y a significant increase in both 3i and Avana systems(P<0.05, paired t-test). 6. Statistically, there was no significant difference between amount of increase in the rotational freedom of 3i systems and amount of increase in that of Avana ones(P>0.05, unpaired t-test). Conclusion: Conclusively, it was considered that repeated delivery and remove of abutment by 20 times would not have influence on screw joint stability. However, it caused statistically the significant change of rotational freedom in tested systems. Therefore, it is suggested that repeated delivery and remove of abutment should be minimal as possible as it could be and be done carefully Additionally, it is suggested that the means or treatment to prevent the wear of mating components should be devised.

The usefulness of the contrast agent high in gadolinium for the contrast-enhanced magnetic resonance hip arthrography (고관절의 자기공명관절조영검사 시 가돌리늄 함유량이 높은 조영제의 유용성)

  • Choi, Kwan-Woo;Kim, Yoon-Shin;Son, Soon-Yong;Lee, Ho-Beom;Na, Sa-Ra;Min, Jung-Whan;Yoo, Beong-Gyu;Lee, Jong-Seok
    • Journal of the Korea Academia-Industrial cooperation Society
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    • v.14 no.11
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    • pp.5682-5688
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    • 2013
  • The purpose of this study is to maximize diagnositc usefulness with increasing signal to noise ratio(SNR) and contrast to noise ratio(CNR) by using a 1mmol/mL gadolinium contrast agent. From January 2012 to June 2013 fourty-seven patients were underwent the MRI scanning to investigate the contrast difference in gadolinium content. Twenty of the patients were injencted the commercial contrast agent containing 0.5mmol/mL gadolinium and the rest of them were injected the new contrast agent containing 1mmol/mL gadolinium called gadobutrol. We measured and evaluated each SNR and CNR of the hip joint space, iliopsoas muscle and femoral head. As a result, using the 1mmol/mL gadolinium contrast agent had the higher SNR results than using the 0.5mmol/mL agent(27% in the hip joint, 30.01% in the femoral head). Also CNR using the 1mmol/mL gadolinium agent was proved to be higher than that of using 0.5mmol/mL agent(28.31% in the ilopsoas muscle and 26.74% in the femoral head). Therefore, the contrast agent containing more gadolinium like 1mmol/mL used in this study is more effective to shorten T1 relaxation time, so it increases the signal intensity and CNR and furthermore maximizes diagnostic value. This study reports the usefulness of the 1mmol/mL contrast agent in the contrast-enhanced magnetic resonance hip arthrography for the first. Therefore, it can be considered to have an meaningful academic value as showing the method for increasing the diagnostic usefulness by using the 1mmol/mL contrast agent.

Newly Revised Lung Cancer Staging System and Survival in Non-Small Cell Lung Cancer Patients (새로 개정된 폐암 병기 판정에 따른 비소세포폐암 환자의 생존 분석)

  • Kim, Byeong-Cheol;Moon, Doo-Seop;Yoon, Su-Mi;Yang, Seok-Chul;Yoon, Ho-Yoo;Shin, Dong-Ho;Park, Sung-Soo;Lee, Jung-Hee
    • Tuberculosis and Respiratory Diseases
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    • v.47 no.3
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    • pp.339-346
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    • 1999
  • Background : Non-small cell lung carcinoma is a common tumor with a poor prognosis. Of all malignancies, it is the main cause of death for male and female patients in the Western world. Resection remains the most effective treatment when feasible. Accurate description and classification of the extent of cancer growth are important in planning treatment, estimating prognosis, evaluating end results of therapy, and exchanging information on human cancer research. Until effective systemic therapy is available for non-small cell lung cancer, development of new treatment strategies depends on knowledge of the end results achieved for carefully staged groups of patients in the lung cancer populations. For these reasons, we investigated the survival rate in radically resected non-small cell lung cancer patients by newly revised staging system adopted by the American Joint Committee on Cancer and the Union Internationale Contre le Cancer. Methods: Clinical, surgical-pathologic and follow-up informations on 84 consecutive, previously untreated, patients who received their primary treatment for non-small cell lung cancer were investigated. Staging definitions for the T(primary tumor), N(reginal lymph node), and M(distant metastasis) components were according to the International Staging System for Lung Cancer. Death from any causes was the primary target of the evaluation. Results: The median survival rates were as follows; stage I ;79.1 months, stage II ;47.3 months, stage IIIa; 22.7 months, stage IIIb; 16.1 months, and stage IV;15.2 months versus newly revised stage Ia;58.5 months, stage I b;76.0 months, stage IIa; not available, stage IIb;43.0 months, stage IIIa;22.5 months, stage IIIb; 16.1 months, and stage IV;15.2 months. The survival rates were not significantly different between old and newly revised staging system. Cumulative percent survival at 36months after treatment was 100% in stage Ia, 80% in stage Ib, not available in stage IIa, 26 % in stage IIb, and 21 % in stage m a respectively. Conclusions: Although these data were not significantly different statistically, the newly revised lung cancer staging system might be more promising for the accurate evaluation of the prognosis in the non-small cell lung caner patients.

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Prevalence of Signs and Symptoms of Temporomandibular disorders with aging (연령에 따른 턱관절장애의 증상과 징후의 유병률)

  • Chang, Joo-Yeon;Kang, Soo-Kyung;Auh, Q-Schick;Hong, Jung-Pyo;Chun, Yang-Hyun
    • Journal of Oral Medicine and Pain
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    • v.37 no.3
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    • pp.183-188
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    • 2012
  • Previous studies of the relationship of TMJ signs and symptoms in elderly people have provided inconsistent findings. The objective of this study was to retrospectively analyze the prevalence of signs and symptoms of temporomandibular disorders(TMD). Additionally, young subjects were examined as a control group. Forty old patients (28 female, 12 male, mean age: $65.2{\pm}2.5$ years) and forty young patients (30 female, 10 male, mean age: $23.3{\pm}2.6$ years) clinically diagnosed with TMD were screened. Patient records were analyzed regarding: pain on chief complain, amount of range of mouth opening, TMJ noises(clicking sounds, crepitus), pain on palpation of the TMJ and masticatory muscles and neck and upper back muscles. Differences between the groups were assessed using t-test and the chi-squared test. (SPSS v.17) P value <0.05 was considered statistically significant. Geriatric subjects more often exhibited crepitus on mouth opening (25%), muscular palpation pain of masseter muscles (82.5%) and temporal muscles(60%). In contrast, young subjects more frequently exhibited joint sounds (62.5%), more amount of range of passive mouth opening (p=0.043). It was found that the younger subjects (82.5%) and the older subjects (87.5%) suffered from subjective sign (orofacial pain on chief complain). There were not statistically significant relationships between orofacial pain (VAS) and the groups. Differences between the groups with respect to joint sounds, muscular palpation pain and mandibular range of motion were significant. Although older subjects more frequently exhibited objective signs (crepitus on opening, pain on muscular palpation) of TMD, younger subjects more frequently objective signs (clicking sound on mouth opening, amount of mandibular range of motion).

A Fast 4X4 Intra Prediction Method using Motion Vector Information and Statistical Mode Correlation between 16X16 and 4X4 Intra Prediction In H.264|MPEG-4 AVC (H.264|MPEG-4 AVC 비디오 부호화에서 움직임 벡터 정보와 16~16 및 4X4 화면 내 예측 최종 모드간 통계적 연관성을 이용한 화면 간 프레임에서의 4X4 화면 내 예측 고속화 방법)

  • Na, Tae-Young;Jung, Yun-Sik;Kim, Mun-Churl;Hahm, Sang-Jin;Park, Chang-Seob;Park, Keun-Soo
    • Journal of Broadcast Engineering
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    • v.13 no.2
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    • pp.200-213
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    • 2008
  • H.264| MPEG-4 AVC is a new video codingstandard defined by JVT (Joint Video Team) which consists of ITU-T and ISO/IEC. Many techniques are adopted fur the compression efficiency: Especially, an intra prediction in an inter frame is one example but it leads to excessive amount of encoding time due to the decision of a candidate mode and a RDcost calculation. For this reason, a fast determination of the best intra prediction mode is the main issue for saving the encoding time. In this paper, by using the result of statistical relation between intra $16{\times}16$ and $4{\times}4$ intra predictions, the number of candidate modes for $4{\times}4$ intra prediction is reduced. Firstly, utilizing motion vector obtained after inter prediction, prediction of a block mode for each macroblock is made. If an intra prediction is needed, the correlation table between $16{\times}16$ and $4{\times}4$ intra predicted modes is created using the probability during each I frame-coding process. Secondly, using this result, the candidate modes for a $4{\times}4$ intra prediction that reaches a predefined specific probability value are only considered in the same GOP For the experiments, JM11.0, the reference software of H.264|MPEG-4 AVC is used and the experimental results show that the encoding time could be reduced by 51.24% in maximum with negligible amounts of PSNR drop and bitrate increase.

Effects of Catalpa Ovata on the Collagen-induced Arthritis in Lewis Rats (개오동이 흰쥐의 Collagen 유발 관절염에 미치는 영향)

  • Kim, Sun-Jung;Seo, Il-Bok;Yoon, Je-Pil
    • The Journal of Korea CHUNA Manual Medicine
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    • v.4 no.1
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    • pp.75-88
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    • 2003
  • Objectives : The purpose of this study is to find out the effects of Catalpa Ovata on the collagen-induced arthritis in the lewis rats. and we infere the effects of Catalpa Ovata on the rheumatoid arthritis in the human body. Methods : We investigated the effect of Catalpa Ovata on the Collagen-induced arthritis in Lewis rats via morphology, histology and serology as an experimental group, a control group, and a normal group. We feed Catalpa Ovata. only to an experimental group. Results : According to this research, the abnormal finding In Moire topography was 53.7% (1,018 students), and students needed X-ray re-examination were 11.2% (213 students). Students diagnosed scoliosis by X-ray re-examination were 1.8%. According to statistical analysis, interval between vertical base line of pelvis and vertical base line of neck, gap between left distance and right distance to the vertical base line of pelvis and difference of contour lines have strong correlations with deformity degree of the body surface examined by Moire. Conclusions : 1. The weight of an experimental group were lower than control group with statistically significant at 15 days later. 2, The paw edema volume of an experimental group were lower than control group at 10 days, 15 days later. but couldn't be found meaning. 3. The size of the tarsal joint of an experimental group were lower than control group at 5 days, 10 days, 15 days later, but couldn't be found meaning. 4. The volume of tumor necrosis factor-a at an experimental group were lower than control group with statistically significant. 5. The volume of interleukin-$1{\beta}$ at an experimental group were lower than control group with statistically significant. 6. An experimental group and a control group were showed ankylosing osteoarthritis, but an experimental group compared with a control group, alleviated In the fibrous ankylosis, destruction of articular cartilage and destruction of subchondral bony tissue. According to the above results, it might be considered that Catalpa Ovata has the suppression of the advance of the Collagen-induced arthritis and that result were presumed to bo connected with suppression of volume of the tumor necrosis $factor-{\alpha}$ and $interleukin-1{\beta}$ in the blood.

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Joint stability of internal conical connection abutments with or without hexagon indexes: an in vitro study (내부연결 원추형 임플란트의 육각구조의 유무에 따른 연결부 안정성: 실험적 연구)

  • Lee, Sang-Woon;Cha, Min-Sang;Lee, Ji-Hye;Cho, Lee-Ra;Park, Chan-Jin
    • Journal of Dental Rehabilitation and Applied Science
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    • v.36 no.2
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    • pp.95-103
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    • 2020
  • Purpose: The purpose of this study was to compare the axial displacement of the hexagonal and conical abutment in internal conical connection implant after screw tightening and cyclic loading. Materials and Methods: Internal conical connection implants were divided into two groups (n = 10): group HEX, hexagonal abutment; and group CON, conical 2-piece abutments. The axial displacement and removal torque values were measured after 30 Ncm torque tightening and 250N loading test of 100,000 cycles. The Student t test with 5% significance level was used to evaluate the data. Results: HEX group demonstrated significantly higher axial displacement values after 30 Ncm tightening in comparison to the CON group (P < 0.05). No significant difference was found in axial displacement after cyclic loading (P = 0.052). Removal torque loss before and after the cyclic loading both revealed no significant difference between groups (P = 0.057 and P = 0.138). Removal torque value decreased after cyclic loading in both groups (P < 0.05). Conclusion: Overall, both abutment with or without hexagon index presented similar biomechanical performance except HEX group demonstrated significantly more axial displacement after applying tightening torque.

Diagnosis of Meniscal Tear of the Knee Using Proton-weighted Fast Spin-Echo MR Imaging : Can be an Alternative to Conventional Spin-Echo Imaging\ulcorner (양지밀도강조 고속 스핀에코 자기공명영상을 이용한 슬관절 반월판 열상의 진단 : 고식적 스핀에코를 대체할 수 있는가\ulcorner)

  • 김기준;이재희;주종관;이성용
    • Investigative Magnetic Resonance Imaging
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    • v.3 no.1
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    • pp.73-77
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    • 1999
  • Purpose : The purpose of the study was to evaluate the sensitivity and specificity of proton-weighted fast spin-echo MR imaging in diagnosing the meniscal tear of knee as an reasonable substitute for conventional spin-echo imaging. Materials and Methods : 102 consecutive patients, proved by surgery, proved by surgery, were participated in this study. All of them were suspected internal derangement of knee, examined by fast spin-echo MR imaging including sagittal and coronal images on a 1.5T MR imager and underwent arthroscopic or open surgery of knee joint within 2 months. These images were reviewed retrospectively by three radiologists. The sensitivity and specificity of meniscal tear were calculated. Results : The sensitivity and specificity of meniscal tear using proton-weighted fast spin-echo MR imaging were 94%, 93% inmedialmeniscus and 92%, 88% in lateral meniscus. Conclusion : The sensitivity and specificity of meniscal tear using proton weighted fast-spin echo MR images were as high as those using conventional spin-echo images. The proton-weighted fast-spin echo MR imaging can be an alternative to conventional spin-echo MR imaging in diagnosing meniscal tear of the knee.

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The Changes of Isokinetic Strength in Accordance with Short-term Weight loss of Wrestlers (레슬링 선수들의 단기간 체중감량이 슬관절의 등속성 운동능력에 미치는 영향)

  • 염종우
    • Journal of Life Science
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    • v.12 no.6
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    • pp.780-785
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    • 2002
  • The purpose of this study is to investigate isokinetic strength changes of knee joint in accordance with short-term weight loss of wrestlers. For this purpose, 14 male wrestlers of a K technical high school in B city participated in our research. The wrestlers were divided into two groups; one group of the wrestlers didn't lose any weight, and the other lost over 5% of their weights. The isokinetic strength was also observed before and after weight loss. The isokinetic strenght test were processed at test speed of the$60^{\circ}C$/sec, $90^{\circ}C$/sec, and $250^{\circ}C$/sec with the CYBEX NORM system(Cybex 770+TMS, USA). Peak torque, peak torque %BW, total work, total work %BW, and endurance ratio were measured. Results showed that the isokinetic strength after the short-term weight loss of wrestlers decreased meaningfully Although endurance ratio didn't show any meaningful difference in our research, but more accurate research may find out the relationship between short-term weight loss and the endurance ratio of isokinetic strength.