• Title/Summary/Keyword: CMT1A

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A Case of Cauda Equina Syndrome in Early-Onset Chronic Inflammatory Demyelinating Polyneuropathy Clinically Similar to Charcot-Marie-Tooth Disease Type 1

  • Lee, Seung Eun;Park, Seung Won;Ha, Sam Yeol;Nam, Taek Kyun
    • Journal of Korean Neurosurgical Society
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    • v.55 no.6
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    • pp.370-374
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    • 2014
  • To present a case of cauda equina syndrome (CES) caused by chronic inflammatory demyelinating polyneuropathy (CIDP) which seemed clinically similar to Charcot-Marie-Tooth disease type1 (CMT1). CIDP is an immune-mediated polyneuropathy, either progressive or relapsing-remitting. It is a non-hereditary disorder characterized by symmetrical motor and sensory deficits. Rarely, spinal nerve roots can be involved, leading to CES by hypertrophic cauda equina. A 34-year-old man presented with low back pain, radicular pain, bilateral lower-extremity weakness, urinary incontinence, and constipation. He had had musculoskeletal deformities, such as hammertoes and pes cavus, since age 10. Lumbar spine magnetic resonance imaging showed diffuse thickening of the cauda equina. Electrophysiological testing showed increased distal latency, conduction blocks, temporal dispersion, and severe nerve conduction velocity slowing (3 m/s). We were not able to find genetic mutations at the PMP 22, MPZ, PRX, and EGR2 genes. The pathologic findings of the sural nerve biopsy revealed thinly myelinated nerve fibers with Schwann cells proliferation. We performed a decompressive laminectomy, intravenous IgG (IV-IgG) and oral steroid. At 1 week after surgery, most of his symptoms showed marked improvements except foot deformities. There was no relapse or aggravation of disease for 3 years. We diagnosed the case as an early-onset CIDP with cauda equine syndrome, whose initial clinical findings were similar to those of CMT1, and successfully managed with decompressive laminectomy, IV-IgG and oral steroid.

Study on the Optimization Field Welding Conditions of Low Heat-Input Pluse MIG Welding Process for 5052 Aluminum Alloy Sheets (Al 5052 합금의 저입열 Pulse MIG 최적 현장 용접조건 산정에 관한 실험적 연구)

  • Kim, Jae-Seong;Lee, Young-Gi;An, Ju-Sun;Lee, Bo-Young
    • Journal of Welding and Joining
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    • v.29 no.1
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    • pp.80-84
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    • 2011
  • The weight reduction of the transportations has become an important technical subject Al and Al alloys, especially Al 5052 alloys have been being applied as door materials for automobile. One of the most widely known car weight-reduction methods is to use light and corrosion-resistant aluminum alloys. However, because of high electrical and thermal conductivity and a low melting point, it is difficult to obtain good weld quality when working with the aluminum alloys. Also, Pulse MIG welding is the typical aluminum welding process, but it is difficult to apply to the thin plate, because of melt-through and humping-bead. In order to enhance weld quality, welding parameters should be considered in optimizing the welding process. In this experiment, Al 5052 sheets were used as specimens, and these materials were welded by adopting new Cold Metal Transfer (CMT) pulse process. The proper welding conditions such as welding current, welding speed, torch angle $50^{\circ}$ and gap 0~1mm are determined by tensile test and bead shape. Through this study, range of welding current are confirmed from 100A to 120A. And, the range of welding speed is confirmed from 1.2m/min to 1.5m/min.

암호 모듈 평가 프로그램(CMVP) 분석과 소개

  • 김석우;정성민;박성근;김일준
    • The Magazine of the IEIE
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    • v.30 no.6
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    • pp.624-637
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    • 2003
  • CMVP(Cryptographic Module Validation Program) validates cryptographic modules to FIPS 140-1, 2, and other FIPS cryptography based standards. This paper gives an overview of the CMVP, cryptographic modules, cryptographic algorithms, and the applicable standards. This provides a brief overview of the security requirements that must be met by each cryptographic module that is submitted to a CMT laboratory for conformance testing and describes the Cryptographic Algorithm Testing.

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Distributional Change and Climate Condition of Warm-temperate Evergreen Broad-leaved Trees in Korea (한반도 난온대 상록활엽수의 분포변화 및 기후조건)

  • Yun, Jong-Hak;Kim, Jung-Hyun;Oh, Kyoung-Hee;Lee, Byoung-Yoon
    • Korean Journal of Environment and Ecology
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    • v.25 no.1
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    • pp.47-56
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    • 2011
  • The research was conducted to find optimal habitats of warm-temperate evergreen broad-leaved trees, and to investigate climate factors to determine their distribution using classification tree (CT) analysis. The warm-temperate evergreen broad-leaved trees model (EG-model) constructed by CT analysis showed that Mean minimum temperature of the coldest month (TMC) is a major climate factor in determining distribution of warm-temperate evergreen broad-leaved trees. The areas above the $-5.95^{\circ}C$ of TMC revealed the optimal habitats of the trees. The coldest month mean temperature (CMT) equitable to $-5.95^{\circ}C$ of TMC is $-1.7^{\circ}C$, which is lower than $-1^{\circ}C$ of CMT of warm-temperate evergreen broad-leaved trees. Suitable habitats were defined for warm-temperate evergreen broad-leaved trees in Korea. These habitats were classified into two areas according to the value of TMC. One area with more than$-5.95^{\circ}C$ of TMC was favorable to trees if the summer precipitation (PRS) is above 826.5mm; the other one with less than $-5.95^{\circ}C$ of TMC was favorable if PRS is above 1219mm. These favorable conditions of habitats were similar to those of warm-temperate evergreen broad-leaved trees in Japan. We figured out from these results that distribution of warm-temperate evergreen broad-leaved trees were expanded to inland areas of southern parts of Korean peninsula, and ares with the higher latitude. Finally, the northern limits of warm-temperate evergreen broad-leaved trees might be adjusted accordingly.

Isolation and Characterization of Zymomonas mobilis DNA Fragments Showing Promoter Activity in Escherichia coli (Escherichia coli에서 Promoter 활성을 보이는 Zymomonas mobilis DNA 조각의 분리와 분석)

  • Kim, Eun-Joon;Yoon, Ki-Hong;M.Y. Pack
    • Microbiology and Biotechnology Letters
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    • v.17 no.6
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    • pp.600-605
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    • 1989
  • For the purpose of isolation of the Zymomonas mobilis DNA fragments showing promoter activity in Escherichia coli, a promoter screening vector, PCMT215 was constructed by transferring a promoterless chloramphenicol acetyltransferase (CAT) gene of pYEJ001 into pMT21 which contains $\beta$-lactamase gene and multiple cloning sites. A library of Z, mobilis Sau3AI DNA fragments was constructed in E. coli using the newly constructed pCMT215. Fourteen clones showing resistance to chloramphenicol ranging in concentration from 30 to 750 $\mu$g/$m\ell$ were selected. From five clones of them, the Z. mobilis DNA fragments expressing CAT gene of the recombinant plasmids were sequenced and then sites of transcriptional initiation were identified. The nucleotide sequences of the cloned DNA shared AT rich regions, poly A's or T's stretches and palindromic regions. The positions of transcriptional initiation for CAT gene occurred at more than one site spaced over by 4 to 190 base pairs on the cloned fragments in E. coli.

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BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease

  • Kim, Seung Ju;Nam, Soo Hyun;Kanwal, Sumaira;Nam, Da Eun;Yoo, Da Hye;Chae, Jong?Hee;Suh, Yeon?Lim;Chung, Ki Wha;Choi, Byung?Ok
    • Genes and Genomics
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    • v.40 no.12
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    • pp.1269-1277
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    • 2018
  • Bcl2-associated athanogene 3 (BAG3) mutations have been reported to cause the myofibrillar myopathy (MFM) which shows progressive limb muscle weakness, respiratory failure, and cardiomyopathy. Myopathy patients with BAG3 mutation are very rare. We described a patient showing atypical phenotypes. We aimed to find the genetic cause of Korean patients with sensory motor polyneuropathy, myopathy and rigid spine. We performed whole exome sequencing (WES) with 423 patients with sensory motor polyneuropathy. We found BAG3 mutation in one patient with neuropathy, myopathy and rigid spine syndrome, and performed electrophysiological study, whole body MRI and muscle biopsy on the patient. A de novo heterozygous p.Pro209Leu (c.626C>T) mutation in BAG3 was identified in a female myopathy. She first noticed a gait disturbance and spinal rigidity at the age of 11, and serum creatine kinase levels were elevated ninefolds than normal. She showed an axonal sensory-motor polyneuropathy like Charcot-Marie-Tooth disease (CMT), myopathy, rigid spine and respiratory dysfunction; however, she did not show any cardiomyopathy, which is a common symptom in BAG3 mutation. Lower limb MRI and whole spine MRI showed bilateral symmetric fatty atrophy of muscles at the lower limb and paraspinal muscles. When we track traceable MRI 1 year later, the muscle damage progressed slowly. As far as our knowledge, this is the first Korean patient with BAG3 mutation. We described a BAG3 mutation patient with atypical phenotype of CMT and myopathy, and those are expected to broaden the clinical spectrum of the disease and help to diagnose it.

Adult Patients with Congenital Muscular Torticollis Treated with Bipolar Release : Report of 31 Cases

  • Lee, Gun Sang;Lee, Myung Ki;Kim, Woo Jae;Kim, Ho Sang;Kim, Jeong Ho;Kim, Yun-Suk
    • Journal of Korean Neurosurgical Society
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    • v.60 no.1
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    • pp.82-88
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    • 2017
  • Objective : We assessed the surgical results of bipolar release in 31 adult patients with uncorrected congenital muscular torticollis (CMT) and more than 12 months of follow-up. Methods : Thirty-one patients underwent a bipolar release of the sternocleidomastoid muscle (SCM) and were retrospectively analyzed. The mean follow-up period was 14.9 months (range, 12-30). The mean age at time of surgery was 30.3 years (range, 20-54). Patients were evaluated with a modified Lee's scoring system, cervicomandibular angle (CMA) measurement, and a global satisfaction rating scale using patient self-reporting. Results : The modified Lee's scoring system indicated excellent results in 4 (12.9%) patients, good in 18 (58.1%), and fair in 9 (29.0%) at the last follow-up after surgery. The improvements in neck movement and head tilt were statistically significant (p<0.05). The preoperative mean CMA was $15.4^{\circ}$ (range, 5.4-29.0), which was reduced to a mean of CMA of $6.3^{\circ}$ (range, 0-25) after surgery (p<0.05). The global satisfaction rating scale was 93.7% (range, 90-100). A transient sensory deficit on the ipsilateral lower ear lobe was noted in three cases. No significant permanent complications occurred. Conclusion : Bipolar release of the SCM is a safe and reliable technique for the treatment of CMT in adults.

Clinical Study on the Case of Charcot-Marie-Tooth Disease Treated with Korean Medicine: A Case Report (Charcot-Marie-Tooth Disease 환자에 대한 한방치료 1례)

  • Kim, Yu Ri;Kim, Dae Hun;Kim, Kun Hyung;Yang, Gi Young;Kim, Jae Kyu;Lee, Byung Ryul
    • Journal of Acupuncture Research
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    • v.31 no.4
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    • pp.173-183
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    • 2014
  • Objectives : The purpose of this study is to report the effect of Korean Medicine treatment on a patient with Charcot-Marie-Tooth disease. Methods : A 60-year-old woman who was diagnosed as Charcot-Marie-Tooth disease was admitted with both lower and upper limbs weakness, difficulty in walking, palm pain and neck pain. The patient was treated with acupuncture, electroacupuncture, herbal medicine, cupping therapy and physical treatment from 2th September 2013 to 14th November 2013. Improvement of the patient's symptoms was evaluated by numeric rating scale(NRS), visual analog scale(VAS), SF-36 bodily pain and patient global assessment(PGA). Results : After treatment, pain Intensity evaluated by VAS was significantly decreased(from 7.2 to 2). Increased SF-36 bodily pain score(from 10 to 67.5) showed that patient's quality of life has been improved. Conclusions : These results suggest that Korean medicine treatment may be effective in reducing the symptoms of Charcot-Marie-Tooth disease.

Outcomes of Preoperative Chemoradiotherapy and Combined Chemotherapy with Radiotherapy Without Surgery for Locally Advanced Rectal Cancer

  • Supaadirek, Chunsri;Pesee, Montien;Thamronganantasakul, Komsan;Thalangsri, Pimsiree;Krusun, Srichai;Supakalin, Narudom
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.7
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    • pp.3511-3514
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    • 2016
  • Purpose: To evaluate the treatment outcomes of patients with locally advanced rectal cancer treated with preoperative concurrent chemoradiotherapy (CCRT) or combined chemotherapy together with radiotherapy (CMT-RT) without surgery. Materials and Methods: A total of 84 patients with locally advanced rectal adenocarcinoma (stage II or III) between January $1^{st}$, 2003 and December $31^{st}$, 2013 were enrolled, 48 treated with preoperative CCRT (Gr.I) and 36 with combined chemotherapy and radiotherapy (CMT-RT) without surgery (Gr.II). The chemotherapeutic agents used concurrent with radiotherapy were either 5-fluorouracil short infusion plus leucovorin and/or capecitabine or 5-fluorouracil infusion alone. All patients received pelvic irradiation. Results: There were 5 patients (10.4%) with a complete pathological response. The 3 year-overall survival rates were 83.2% in Gr.I and 24.8 % in Gr.II (p<0.01). The respective 5 year-overall survival rates were 70.3% and 0% (p<0.01). The 5 year-overall survival rates in Gr.I for patients who received surgery within 56 days after complete CCRT as compared to more than 56 days were 69.5% and 65.1% (p=0.91). Preoperative CCRT used for 12 of 30 patients in Gr.I (40%) with lower rectal cancer demonstrated that in preoperative CCRT a sphincter sparing procedure can be performed. Conclusions: The results of treatment with preoperative CCRT for locally advanced rectal cancer showed comparable rates of overall survival and sphincter sparing procedures as compared to previous studies.

Performance analysis of automatic depressurization system in advanced PWR during a typical SBLOCA transient using MIDAC

  • Sun, Hongping;Zhang, Yapei;Tian, Wenxi;Qiu, Suizheng;Su, Guanghui
    • Nuclear Engineering and Technology
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    • v.52 no.5
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    • pp.937-946
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    • 2020
  • The aim in the present work is to simulate accident scenarios of AP1000 during the small-break loss-of-coolant accident (SBLOCA) and investigate the performance and behavior of automatic depressurization system (ADS) during accidents by using MIDAC (The Module In-vessel Degradation severe accident Analysis Code). Four types of accidents with different hypothetical conditions were analyzed in this study. The impact on the thermal-hydraulic of the reactor coolant system (RCS), the passive core cooling system and core degradation was researched by comparing these types. The results show that the RCS depressurization becomes faster, the core makeup tanks (CMT) and accumulators (ACC) are activated earlier and the effect of gravity water injection is more obvious along with more ADS valves open. The open of the only ADS1-3 can't stop the core degradation on the basis of the first type of the accident. The open of ADS1-3 has a great impact on the injection time of ACC and CMT. The core can remain intact for a long time and the core degradation can be prevent by the open of ADS-4. The all results are significant and meaningful to understand the performance and behavior of the ADS during the typical SBLOCA.